#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
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	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_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	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_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	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_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	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
ATAD3B	83858	broad.mit.edu	37	1	1430871	1430871	+	Missense_Mutation	SNP	G	G	A			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.							63.0	66.0	65.0					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	
TPM3	7170	broad.mit.edu	37	1	154148652	154148652	+	Missense_Mutation	SNP	G	G	A			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.							99.0	92.0	94.0					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	
NR1I3	9970	broad.mit.edu	37	1	161206281	161206281	+	Silent	SNP	C	C	T	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	184.0	164.0	171.0		75,,75,,,75,,,,75,,75,75,75,75	0.2	1.0	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		
AGT	183	broad.mit.edu	37	1	230846235	230846235	+	Missense_Mutation	SNP	T	T	A			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)						96.0	97.0	97.0					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	
TACC2	10579	broad.mit.edu	37	10	123810032	123810032	+	Missense_Mutation	SNP	C	C	T	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	0.0014	5008	,	,		16991	0.0		0.0	False		,,,				2504	0.0					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.							48.0	50.0	49.0					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		
JAKMIP3	282973	broad.mit.edu	37	10	133967449	133967449	+	Silent	SNP	C	C	T			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.							86.0	74.0	78.0					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	
NAALAD2	10003	broad.mit.edu	37	11	89868837	89868837	+	Splice_Site	SNP	C	C	T			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.							85.0	87.0	87.0					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
FAT3	120114	broad.mit.edu	37	11	92570936	92570936	+	Silent	SNP	G	G	A	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	110.0	109.0	109.0		10332	-9.4	0.0	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	
PANX3	116337	broad.mit.edu	37	11	124489539	124489539	+	Missense_Mutation	SNP	G	G	A			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.							135.0	123.0	127.0					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		
SLC2A14	144195	broad.mit.edu	37	12	7980269	7980269	+	Missense_Mutation	SNP	C	C	T			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.							20.0	23.0	22.0					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	
SLC2A3	6515	broad.mit.edu	37	12	8082458	8082458	+	Missense_Mutation	SNP	C	C	T	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	0.0	5008	,	,		-128	0.0		0.001	False		,,,				2504	0.0				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.							91.0	90.0	90.0					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	
MTERF2	80298	broad.mit.edu	37	12	107371855	107371855	+	Missense_Mutation	SNP	A	A	G			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.							44.0	49.0	47.0					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		
BTBD11	121551	broad.mit.edu	37	12	108012011	108012011	+	Missense_Mutation	SNP	G	G	A			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.							59.0	60.0	59.0					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	
MYH6	4624	broad.mit.edu	37	14	23858709	23858709	+	Silent	SNP	G	G	T			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.							60.0	62.0	61.0					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		
AKAP6	9472	broad.mit.edu	37	14	33290999	33290999	+	Missense_Mutation	SNP	A	A	G			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.							52.0	52.0	52.0					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	
EML1	2009	broad.mit.edu	37	14	100363606	100363606	+	Missense_Mutation	SNP	G	G	A			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.							130.0	100.0	111.0					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	
WDR72	256764	broad.mit.edu	37	15	53998200	53998200	+	Silent	SNP	A	A	T			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.							105.0	106.0	106.0					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	
DNM1P47	100216544	broad.mit.edu	37	15	102292749	102292749	+	RNA	SNP	A	A	C			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.chr15:102292749A>C	ENST00000561463.1	+	0	795									DNM1 pseudogene 47																		AGGAGTCGGCAGAGCAGGCAC	0.597																																						uc010usj.2																			0											c.(337-339)Aga>Cga		Homo sapiens cDNA clone IMAGE:40009338.																																						100216544							g.chr15:102292749A>C	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102292749A>C						DQ593624_uc002bxp.4_5'Flank|DQ576888_uc021sxy.1_5'Flank|DQ596486_uc002bxz.4_5'Flank|DQ582294_uc021syc.1_5'Flank|DQ595661_uc021sye.1_5'Flank|DQ588439_uc002byd.3_5'Flank|DQ593353_uc002bye.3_5'Flank|DQ597703_uc002byf.1_5'Flank|DQ585237_uc002byg.3_5'Flank|DQ588452_uc021syg.1_5'Flank|DQ586526_uc002byi.3_5'Flank|DQ588428_uc002byk.3_5'Flank|DQ597703_uc002bym.3_5'Flank|DQ571896_uc010usm.2_5'Flank|DQ586526_uc021syh.1_5'Flank	p.R113R							3	396	+									Silent	SNP	ENST00000561463.1	37	c.337A>C																																																																																					0.597	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149	
GNPTG	84572	broad.mit.edu	37	16	1412529	1412529	+	Silent	SNP	C	C	T	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	0.0	5008	,	,		15632	0.0		0.0	False		,,,				2504	0.0					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	38.0	42.0	41.0		603	-10.5	0.0	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	
MAPK8IP3	23162	broad.mit.edu	37	16	1815961	1815961	+	Splice_Site	SNP	C	C	T			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.							16.0	22.0	20.0					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
SPATA22	84690	broad.mit.edu	37	17	3366028	3366028	+	Missense_Mutation	SNP	G	G	A			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.							117.0	121.0	120.0					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	
TP53	7157	broad.mit.edu	37	17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	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	83.0	71.0	75.0	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	
TP53	7157	broad.mit.edu	37	17	7578396	7578396	+	Missense_Mutation	SNP	G	G	T			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.							47.0	48.0	47.0					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	
HOXB1	3211	broad.mit.edu	37	17	46607715	46607715	+	Missense_Mutation	SNP	C	C	A			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.							55.0	51.0	52.0					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		
FUT5	2527	broad.mit.edu	37	19	5867712	5867712	+	Missense_Mutation	SNP	G	G	T			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.							23.0	26.0	25.0					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		
ILF3	3609	broad.mit.edu	37	19	10789305	10789305	+	Silent	SNP	C	C	T			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.							96.0	84.0	88.0					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		
PODNL1	79883	broad.mit.edu	37	19	14046616	14046616	+	Missense_Mutation	SNP	G	G	A	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	22.0	24.0	23.0		427,,433	3.9	1.0	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	
NLRP5	126206	broad.mit.edu	37	19	56538455	56538455	+	Missense_Mutation	SNP	G	G	A			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.							48.0	51.0	50.0					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	
ZNF583	147949	broad.mit.edu	37	19	56934399	56934399	+	Missense_Mutation	SNP	T	T	G			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.							87.0	86.0	86.0					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	
CLHC1	130162	broad.mit.edu	37	2	55439915	55439915	+	Silent	SNP	C	C	A			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.							125.0	115.0	118.0					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	
ALMS1	7840	broad.mit.edu	37	2	73680365	73680365	+	Silent	SNP	A	A	G			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.							52.0	51.0	52.0					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	
PLCL1	5334	broad.mit.edu	37	2	198950756	198950756	+	Missense_Mutation	SNP	G	G	A			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)						169.0	141.0	151.0					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	
SLC11A1	6556	broad.mit.edu	37	2	219255987	219255987	+	Missense_Mutation	SNP	G	G	A			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.							73.0	61.0	65.0					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	
OBSL1	23363	broad.mit.edu	37	2	220422920	220422920	+	Missense_Mutation	SNP	T	T	C			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.							36.0	43.0	41.0					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		
TSHZ2	128553	broad.mit.edu	37	20	51872260	51872260	+	Missense_Mutation	SNP	C	C	T			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.							93.0	90.0	91.0					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	
FAM83F	113828	broad.mit.edu	37	22	40417570	40417570	+	Silent	SNP	C	C	T			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.							17.0	18.0	18.0					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	
PKDREJ	10343	broad.mit.edu	37	22	46656782	46656782	+	Missense_Mutation	SNP	C	C	A			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.							67.0	72.0	70.0					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	
CLEC3B	7123	broad.mit.edu	37	3	45077083	45077083	+	Silent	SNP	C	C	T			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)						62.0	56.0	58.0					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	
NPRL2	10641	broad.mit.edu	37	3	50387203	50387203	+	Missense_Mutation	SNP	G	G	A			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.							129.0	126.0	127.0					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	
DZIP1L	199221	broad.mit.edu	37	3	137796433	137796433	+	Missense_Mutation	SNP	C	C	T			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.							180.0	149.0	159.0					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	
ANAPC4	29945	broad.mit.edu	37	4	25396471	25396471	+	Missense_Mutation	SNP	G	G	T			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.							62.0	65.0	64.0					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	
UGT2B28	54490	broad.mit.edu	37	4	70156391	70156391	+	Missense_Mutation	SNP	T	T	C	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	0.0	5008	,	,		13524	0.0		0.001	False		,,,				2504	0.0					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)						111.0	112.0	112.0					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	
DNAH5	1767	broad.mit.edu	37	5	13727709	13727709	+	Silent	SNP	C	C	T	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	102.0	104.0	103.0		11940	3.9	1.0	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	
PIK3R1	5295	broad.mit.edu	37	5	67589138	67589138	+	Missense_Mutation	SNP	G	G	A			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)						52.0	58.0	56.0					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	
MTX3	345778	broad.mit.edu	37	5	79284349	79284349	+	Missense_Mutation	SNP	A	A	T			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.							66.0	61.0	63.0					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	
HRH2	3274	broad.mit.edu	37	5	175110351	175110351	+	Missense_Mutation	SNP	G	G	A	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)						225.0	195.0	205.0					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		
KIAA0319	9856	broad.mit.edu	37	6	24556864	24556864	+	Missense_Mutation	SNP	C	C	T	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	95.0	85.0	88.0		2801,2828,2693,2828,2828	2.2	0.0	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	
SLC39A7	7922	broad.mit.edu	37	6	33170112	33170112	+	Missense_Mutation	SNP	T	T	C			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.							128.0	134.0	132.0					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	
EPHA7	2045	broad.mit.edu	37	6	94120845	94120845	+	Missense_Mutation	SNP	C	C	T			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.							102.0	107.0	105.0					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		
SHPRH	257218	broad.mit.edu	37	6	146269445	146269445	+	Missense_Mutation	SNP	C	C	T			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.							74.0	72.0	72.0					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	
ELMO1	9844	broad.mit.edu	37	7	37251095	37251095	+	Missense_Mutation	SNP	G	G	C			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.							127.0	105.0	113.0					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	
EGFR	1956	broad.mit.edu	37	7	55233109	55233109	+	Missense_Mutation	SNP	G	G	A	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)						68.0	62.0	64.0					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	
ZNF680	340252	broad.mit.edu	37	7	64004766	64004766	+	Silent	SNP	C	C	T			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.							130.0	135.0	133.0					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	
AUTS2	26053	broad.mit.edu	37	7	70255710	70255710	+	Missense_Mutation	SNP	G	G	A			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		
MUC17	140453	broad.mit.edu	37	7	100677039	100677039	+	Missense_Mutation	SNP	C	C	T			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.							270.0	274.0	273.0					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	
SLC26A3	1811	broad.mit.edu	37	7	107431527	107431527	+	Missense_Mutation	SNP	G	G	A			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.							88.0	77.0	80.0					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	
AASS	10157	broad.mit.edu	37	7	121717919	121717920	+	Frame_Shift_Ins	INS	-	-	G	rs147476318		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.chr7:121717919_121717920insG	ENST00000393376.1	-	22	2729_2730	c.2634_2635insC	c.(2632-2637)accgccfs	p.A879fs	AASS_ENST00000473553.1_5'UTR|AASS_ENST00000417368.2_Frame_Shift_Ins_p.A879fs			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	879	Saccharopine dehydrogenase.				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						GCTGCCATGGCGGTGGGTAACC	0.46																																						uc003vka.3																			0		p.P877P(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.(2632-2637)accgccfs		Homo sapiens aminoadipate-semialdehyde synthase (AASS), nuclear gene encoding mitochondrial protein, mRNA.	L-Glutamic Acid(DB00142)|NADH(DB00157)																																			SO:0001589	frameshift_variant	10157				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity	g.chr7:121717919_121717920insG	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.2635dupC	7.37:g.121717921_121717921dupG	ENSP00000377040:p.Ala879fs					AASS_uc011knu.2_Non-coding_Transcript|AASS_uc011knv.2_Non-coding_Transcript|AASS_uc003vkb.3_Frame_Shift_Ins_p.T878fs|AASS_uc011knw.2_Frame_Shift_Ins_p.T366fs	p.T878fs	NM_005763	NP_005754	Q9UDR5	AASS_HUMAN			21	2730_2731	-			878			Saccharopine dehydrogenase.		O95462	Frame_Shift_Ins	INS	ENST00000393376.1	37	c.2634_2635insC	CCDS5783.1																																																																																				0.460	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347300.1	NM_005763	
POTEA	340441	broad.mit.edu	37	8	43147808	43147808	+	RNA	SNP	G	G	A			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.							60.0	65.0	63.0					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	
UBR5	51366	broad.mit.edu	37	8	103282370	103282370	+	Missense_Mutation	SNP	C	C	A			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.							136.0	127.0	130.0					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	
KIAA0020	9933	broad.mit.edu	37	9	2811564	2811564	+	Missense_Mutation	SNP	G	G	A			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.							84.0	84.0	84.0					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	
KIF27	55582	broad.mit.edu	37	9	86482718	86482718	+	Missense_Mutation	SNP	G	G	A	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	0.0	5008	,	,		14448	0.0		0.001	False		,,,				2504	0.0					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	107.0	106.0	107.0		2815	4.2	1.0	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	
KLHL13	90293	broad.mit.edu	37	X	117035907	117035907	+	Missense_Mutation	SNP	T	T	C	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.							105.0	90.0	95.0					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	
