#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_filter	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	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
SCNN1D	6339	broad.mit.edu	37	1	1222541	1222541	+	Missense_Mutation	SNP	C	C	T	rs377696106		TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr1:1222541C>T	ENST00000338555.2	+	6	1824	c.680C>T	c.(679-681)gCg>gTg	p.A227V	SCNN1D_ENST00000400928.3_Missense_Mutation_p.A227V|SCNN1D_ENST00000379116.5_Missense_Mutation_p.A391V|SCNN1D_ENST00000325425.8_Missense_Mutation_p.A293V			P51172	SCNND_HUMAN	sodium channel, non-voltage-gated 1, delta subunit	227					ion transmembrane transport (GO:0034220)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	actin cytoskeleton (GO:0015629)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ligand-gated sodium channel activity (GO:0015280)	p.A227V(1)|p.A391V(1)		lung(6)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	Amiloride(DB00594)|Triamterene(DB00384)	TCAGGCGTGGCGGCTGTCCAG	0.662													c|||	1	0.000199681	0.0008	0.0	5008	,	,		15167	0.0		0.0	False		,,,				2504	0.0					uc001adu.1																			2	Substitution - Missense(2)		lung(2)		0						c.(679-681)GCG>GTG		sodium channel, nonvoltage-gated 1, delta		C	VAL/ALA	0,4396		0,0,2198	47.0	41.0	43.0		1172	-2.0	0.0	1		43	1,8577	1.2+/-3.3	0,1,4288	no	missense	SCNN1D	NM_001130413.3	64	0,1,6486	TT,TC,CC		0.0117,0.0,0.0077	benign	391/803	1222541	1,12973	2198	4289	6487	SO:0001583	missense	6339							g.chr1:1222541C>T	U38254	CCDS44037.1, CCDS44037.2	1p36.3-p36.2	2012-02-28	2012-02-28		ENSG00000162572	ENSG00000162572		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10601	protein-coding gene	gene with protein product		601328	"""sodium channel, nonvoltage-gated 1, delta"", ""sodium channel, non-voltage-gated 1, delta"""			8661065	Standard	NM_001130413		Approved	ENaCdelta, dNaCh	uc001adt.1	P51172	OTTHUMG00000002081	ENST00000338555.2:c.680C>T	1.37:g.1222541C>T	ENSP00000339504:p.Ala227Val					SCNN1D_uc001adt.1_Missense_Mutation_p.A391V|SCNN1D_uc001adw.2_Missense_Mutation_p.A293V|SCNN1D_uc001adx.2_5'UTR|SCNN1D_uc001adv.2_Missense_Mutation_p.A227V	p.A227V	NM_002978	NP_002969				Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	8	1304	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)						A9Z1X6|B1PS44|Q08AQ3|Q09HT0|Q5T7L3|Q8NA24	Missense_Mutation	SNP	ENST00000338555.2	37	c.680C>T		.	.	.	.	.	.	.	.	.	.	C	7.261	0.605268	0.14002	0.0	1.17E-4	ENSG00000162572	ENST00000379110;ENST00000379116;ENST00000338555;ENST00000325425;ENST00000400928;ENST00000379099	T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16	4.61	-2.0	0.07433	.	1.255120	0.06115	N	0.667822	T	0.40595	0.1123	L	0.27053	0.805	0.09310	N	1	B;P	0.35628	0.266;0.513	B;B	0.26416	0.069;0.019	T	0.20806	-1.0264	10	0.33940	T	0.23	.	5.2893	0.15717	0.4415:0.3151:0.0:0.2434	.	227;391	P51172;A6NNF7	SCNND_HUMAN;.	V	258;391;227;293;227;18	ENSP00000368411:A391V;ENSP00000339504:A227V;ENSP00000321594:A293V;ENSP00000383717:A227V	ENSP00000321594:A293V	A	+	2	0	SCNN1D	1212404	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.520000	0.06252	-0.256000	0.09473	-2.045000	0.00415	GCG		PASS	0.662	SCNN1D-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000005802.2	NM_002978		3	41	3	41	---	---	---	---
PTCHD2	57540	broad.mit.edu	37	1	11595162	11595162	+	Silent	SNP	C	C	G	rs570445815		TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr1:11595162C>G	ENST00000294484.6	+	19	3768	c.3630C>G	c.(3628-3630)ccC>ccG	p.P1210P	PTCHD2_ENST00000304391.6_Missense_Mutation_p.R97G|PTCHD2_ENST00000389575.3_Silent_p.P1210P	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	1210					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)	p.P1427P(1)		NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		TCCTGCTGCCCGTGCTCCTCA	0.682																																						uc001ash.3																			1	Substitution - coding silent(1)		lung(1)	skin(3)|ovary(2)|pancreas(1)|breast(1)	7						c.(3628-3630)CCC>CCG		patched domain containing 2							35.0	44.0	41.0					1																	11595162		2191	4275	6466	SO:0001819	synonymous_variant	57540				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	g.chr1:11595162C>G	AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.3630C>G	1.37:g.11595162C>G							p.P1210P	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)	19	3768	+	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	1210			Helical; (Potential).		Q5VTU9|Q9UJD6	Silent	SNP	ENST00000294484.6	37	c.3630C>G	CCDS41247.1	.	.	.	.	.	.	.	.	.	.	C	11.82	1.752786	0.31046	.	.	ENSG00000204624	ENST00000304391	.	.	.	5.38	-10.8	0.00216	.	.	.	.	.	T	0.49558	0.1564	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.65212	-0.6223	5	0.87932	D	0	-16.7844	2.9446	0.05841	0.2089:0.1291:0.1324:0.5296	.	.	.	.	G	97	.	ENSP00000303400:R97G	R	+	1	0	PTCHD2	11517749	0.000000	0.05858	0.121000	0.21740	0.974000	0.67602	-6.819000	0.00052	-3.157000	0.00229	-0.339000	0.08088	CGT		PASS	0.682	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	XM_052561		4	11	4	11	---	---	---	---
ERICH3	127254	broad.mit.edu	37	1	75039113	75039113	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr1:75039113G>T	ENST00000326665.5	-	14	2499	c.2281C>A	c.(2281-2283)Caa>Aaa	p.Q761K	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		761	Glu-rich.							p.Q761K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TGCACCAATTGCTGGGATTCC	0.403																																						uc001dgg.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						c.(2281-2283)CAA>AAA		hypothetical protein LOC127254							93.0	95.0	94.0					1																	75039113		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75039113G>T																												ENST00000326665.5:c.2281C>A	1.37:g.75039113G>T	ENSP00000322609:p.Gln761Lys						p.Q761K	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			14	2500	-			761			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.2281C>A	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	G	10.71	1.426465	0.25726	.	.	ENSG00000178965	ENST00000326665	T	0.13778	2.56	5.26	4.33	0.51752	.	.	.	.	.	T	0.02380	0.0073	N	0.22421	0.69	0.19300	N	0.999978	B	0.23185	0.081	B	0.22753	0.041	T	0.41448	-0.9508	9	0.07030	T	0.85	-2.0929	10.1826	0.42977	0.0:0.1486:0.6973:0.1541	.	761	Q5RHP9	CA173_HUMAN	K	761	ENSP00000322609:Q761K	ENSP00000322609:Q761K	Q	-	1	0	C1orf173	74811701	0.043000	0.20138	0.003000	0.11579	0.001000	0.01503	1.181000	0.32017	1.337000	0.45525	0.655000	0.94253	CAA		PASS	0.403	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			50	92	50	92	---	---	---	---
PAPPA2	60676	broad.mit.edu	37	1	176564599	176564599	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr1:176564599C>T	ENST00000367662.3	+	3	3023	c.1859C>T	c.(1858-1860)tCc>tTc	p.S620F	PAPPA2_ENST00000367661.3_Missense_Mutation_p.S620F	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	620	Metalloprotease.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.S620F(2)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CGCTGCTACTCCTGGAACCGC	0.607																																						uc001gkz.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(1858-1860)TCC>TTC		pappalysin 2 isoform 1							67.0	73.0	71.0					1																	176564599		2128	4239	6367	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176564599C>T	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.1859C>T	1.37:g.176564599C>T	ENSP00000356634:p.Ser620Phe					PAPPA2_uc001gky.1_Missense_Mutation_p.S620F|PAPPA2_uc009www.2_RNA	p.S620F	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			3	3023	+			620			Metalloprotease.		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.1859C>T	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	C	19.32	3.804842	0.70682	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	T;T	0.34472	4.62;1.36	5.42	5.42	0.78866	.	0.327649	0.34245	N	0.004130	T	0.47857	0.1468	L	0.46157	1.445	0.39613	D	0.969901	P;D	0.57899	0.836;0.981	P;P	0.53450	0.519;0.726	T	0.47711	-0.9096	10	0.54805	T	0.06	-4.6957	18.8444	0.92198	0.0:1.0:0.0:0.0	.	620;620	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	F	620	ENSP00000356634:S620F;ENSP00000356633:S620F	ENSP00000356633:S620F	S	+	2	0	PAPPA2	174831222	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.666000	0.37460	2.542000	0.85734	0.650000	0.86243	TCC		PASS	0.607	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			34	94	34	94	---	---	---	---
CHIT1	1118	broad.mit.edu	37	1	203188832	203188832	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr1:203188832C>A	ENST00000367229.1	-	8	909	c.875G>T	c.(874-876)gGc>gTc	p.G292V	CHIT1_ENST00000535569.1_Missense_Mutation_p.G283V|CHIT1_ENST00000484834.1_5'UTR|CHIT1_ENST00000255427.3_Missense_Mutation_p.G273V	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	292					chitin catabolic process (GO:0006032)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|lysosome (GO:0005764)	chitin binding (GO:0008061)|chitinase activity (GO:0004568)|endochitinase activity (GO:0008843)	p.G292V(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						GGTGAAGGGGCCTGGAGTGCC	0.587																																						uc001gzn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(874-876)GGC>GTC		chitotriosidase precursor							62.0	66.0	64.0					1																	203188832		2203	4300	6503	SO:0001583	missense	1118				chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity	g.chr1:203188832C>A	U29615	CCDS1436.1, CCDS58057.1	1q32.1	2013-06-06			ENSG00000133063	ENSG00000133063			1936	protein-coding gene	gene with protein product		600031				9748235, 9492324	Standard	NM_003465		Approved	CHIT, CHI3	uc001gzn.2	Q13231	OTTHUMG00000042126	ENST00000367229.1:c.875G>T	1.37:g.203188832C>A	ENSP00000356198:p.Gly292Val					FMOD_uc010pqi.1_Intron|CHIT1_uc001gzm.1_RNA|CHIT1_uc009xal.1_Missense_Mutation_p.G83V|CHIT1_uc009xam.1_RNA|CHIT1_uc009xan.1_RNA|CHIT1_uc001gzo.2_Missense_Mutation_p.G283V	p.G292V	NM_003465	NP_003456	Q13231	CHIT1_HUMAN			8	971	-			292					B3KNW6|J3KN09|Q0VGG5|Q0VGG6|Q3ZAR1|Q6ISC2|Q9H3V8|Q9UDJ8	Missense_Mutation	SNP	ENST00000367229.1	37	c.875G>T	CCDS1436.1	.	.	.	.	.	.	.	.	.	.	C	17.99	3.522690	0.64747	.	.	ENSG00000133063	ENST00000367229;ENST00000255427;ENST00000535569	T;T;T	0.06849	3.25;3.25;3.25	5.2	3.35	0.38373	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.363413	0.23596	N	0.046495	T	0.39462	0.1079	H	0.96576	3.845	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.46359	-0.9197	10	0.87932	D	0	-5.4837	9.6098	0.39657	0.0:0.8299:0.0:0.1701	.	292;283;292	Q13231-3;G5EA51;Q13231	.;.;CHIT1_HUMAN	V	292;273;283	ENSP00000356198:G292V;ENSP00000255427:G273V;ENSP00000438078:G283V	ENSP00000255427:G273V	G	-	2	0	CHIT1	201455455	0.995000	0.38212	0.131000	0.22000	0.810000	0.45777	4.058000	0.57463	0.585000	0.29608	0.655000	0.94253	GGC		PASS	0.587	CHIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100275.2	NM_003465		46	149	46	149	---	---	---	---
ANGEL2	90806	broad.mit.edu	37	1	213181649	213181649	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr1:213181649T>C	ENST00000366962.3	-	3	699	c.545A>G	c.(544-546)gAt>gGt	p.D182G	ANGEL2_ENST00000360506.2_Missense_Mutation_p.D13G|ANGEL2_ENST00000544555.1_Missense_Mutation_p.D13G|ANGEL2_ENST00000540642.1_Missense_Mutation_p.D56G|ANGEL2_ENST00000535388.1_Missense_Mutation_p.D13G	NM_144567.3	NP_653168.2	Q5VTE6	ANGE2_HUMAN	angel homolog 2 (Drosophila)	182								p.D182G(1)		central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24				OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)		GTGAGAGTTATCTTCCAGTAA	0.363																																						uc001hjz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(544-546)GAT>GGT		LOC90806 protein							116.0	114.0	115.0					1																	213181649		2203	4300	6503	SO:0001583	missense	90806							g.chr1:213181649T>C	AL079275	CCDS1512.1, CCDS73027.1	1q32.3	2014-06-17			ENSG00000174606	ENSG00000174606			30534	protein-coding gene	gene with protein product						11943475	Standard	XM_005273344		Approved	KIAA0759L, FLJ12793, Ccr4d	uc001hjz.3	Q5VTE6	OTTHUMG00000036927	ENST00000366962.3:c.545A>G	1.37:g.213181649T>C	ENSP00000355929:p.Asp182Gly					ANGEL2_uc010pto.1_Missense_Mutation_p.D56G|ANGEL2_uc010ptp.1_Missense_Mutation_p.D56G|ANGEL2_uc001hka.2_Missense_Mutation_p.D13G|ANGEL2_uc010ptq.1_RNA|ANGEL2_uc001hkb.2_Missense_Mutation_p.D160G	p.D182G	NM_144567	NP_653168	Q5VTE6	ANGE2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)	3	700	-			182					B7Z2U4|D3DTA3|Q86X13|Q8NHH3	Missense_Mutation	SNP	ENST00000366962.3	37	c.545A>G	CCDS1512.1	.	.	.	.	.	.	.	.	.	.	T	15.14	2.745318	0.49151	.	.	ENSG00000174606	ENST00000366962;ENST00000360506;ENST00000544555;ENST00000540642;ENST00000535388;ENST00000310246	T;T;T;T;T	0.43688	1.88;0.94;0.94;1.49;0.96	5.76	5.76	0.90799	Endonuclease/exonuclease/phosphatase (2);	0.046049	0.85682	D	0.000000	T	0.55321	0.1913	L	0.40543	1.245	0.80722	D	1	P;D;B	0.89917	0.696;1.0;0.205	B;D;B	0.74348	0.363;0.983;0.098	T	0.51116	-0.8746	10	0.34782	T	0.22	-21.518	16.0916	0.81094	0.0:0.0:0.0:1.0	.	56;160;182	F5H476;Q96AL9;Q5VTE6	.;.;ANGE2_HUMAN	G	182;13;13;56;13;160	ENSP00000355929:D182G;ENSP00000353696:D13G;ENSP00000443193:D13G;ENSP00000446124:D56G;ENSP00000438141:D13G	ENSP00000309755:D160G	D	-	2	0	ANGEL2	211248272	1.000000	0.71417	0.993000	0.49108	0.886000	0.51366	1.896000	0.39789	2.186000	0.69663	0.533000	0.62120	GAT		PASS	0.363	ANGEL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089693.1	NM_144567		39	89	39	89	---	---	---	---
AIDA	64853	broad.mit.edu	37	1	222867551	222867551	+	Splice_Site	SNP	C	C	A	rs377168741		TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr1:222867551C>A	ENST00000340020.6	-	3	441		c.e3+1		AIDA_ENST00000355727.2_Splice_Site|AIDA_ENST00000474863.1_Splice_Site|AIDA_ENST00000541237.1_Splice_Site	NM_022831.2	NP_073742.2	Q96BJ3	AIDA_HUMAN	axin interactor, dorsalization associated						dorsal/ventral pattern formation (GO:0009953)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|regulation of protein homodimerization activity (GO:0043496)	cytoplasm (GO:0005737)		p.?(1)		kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10						AAACTCCTTACCTGTAAAGCT	0.318																																						uc001hnn.2																			1	Unknown(1)		lung(1)		0						c.e3+1		axin interactor, dorsalization associated							113.0	125.0	121.0					1																	222867551		2203	4298	6501	SO:0001630	splice_region_variant	64853				dorsal/ventral pattern formation|negative regulation of JNK cascade|negative regulation of JUN kinase activity|regulation of protein homodimerization activity			g.chr1:222867551C>A	BC043142	CCDS1533.1	1q41	2008-05-22	2008-05-22	2008-05-22	ENSG00000186063	ENSG00000186063			25761	protein-coding gene	gene with protein product	"""axin interaction partner and dorsalization antagonist"""	612375	"""chromosome 1 open reading frame 80"""	C1orf80		8619474, 9110174, 17681137	Standard	NM_022831		Approved	FLJ12806	uc001hnn.3	Q96BJ3	OTTHUMG00000037653	ENST00000340020.6:c.234+1G>T	1.37:g.222867551C>A						AIDA_uc001hno.2_Splice_Site|AIDA_uc010pus.1_Splice_Site_p.Q54_splice	p.Q78_splice	NM_022831	NP_073742	Q96BJ3	AIDA_HUMAN			3	439	-								A8K1F0|Q49A81|Q5JRA4|Q658P1|Q9H9E8	Splice_Site	SNP	ENST00000340020.6	37	c.234_splice	CCDS1533.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.384319	0.82792	.	.	ENSG00000186063	ENST00000340020;ENST00000355727;ENST00000541237	.	.	.	5.57	5.57	0.84162	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4974	0.95079	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	AIDA	220934174	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.336000	0.72954	2.775000	0.95449	0.650000	0.86243	.		PASS	0.318	AIDA-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091818.1	NM_022831	Intron	145	99	145	99	---	---	---	---
CCDC185	164127	broad.mit.edu	37	1	223566951	223566951	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr1:223566951G>T	ENST00000366875.3	+	1	237	c.134G>T	c.(133-135)cGg>cTg	p.R45L		NM_152610.2	NP_689823.2	Q8N715	CC185_HUMAN		45								p.R45L(1)		breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		GCGTGCTCCCGGGCCGGGACT	0.731																																						uc001hoa.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(133-135)CGG>CTG		hypothetical protein LOC164127							7.0	10.0	9.0					1																	223566951		1924	3943	5867	SO:0001583	missense	164127							g.chr1:223566951G>T																												ENST00000366875.3:c.134G>T	1.37:g.223566951G>T	ENSP00000355840:p.Arg45Leu						p.R45L	NM_152610	NP_689823	Q8N715	CA065_HUMAN		GBM - Glioblastoma multiforme(131;0.0704)	1	237	+			45					Q8N746|Q8NA93	Missense_Mutation	SNP	ENST00000366875.3	37	c.134G>T	CCDS1537.1	.	.	.	.	.	.	.	.	.	.	G	10.70	1.423679	0.25639	.	.	ENSG00000178395	ENST00000366875	T	0.18174	2.23	3.53	-1.35	0.09114	.	.	.	.	.	T	0.08758	0.0217	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.33033	-0.9884	9	0.41790	T	0.15	.	6.57	0.22533	0.0:0.1654:0.3285:0.5061	.	45	Q8N715	CA065_HUMAN	L	45	ENSP00000355840:R45L	ENSP00000355840:R45L	R	+	2	0	C1orf65	221633574	0.260000	0.24053	0.001000	0.08648	0.021000	0.10359	3.704000	0.54815	-0.119000	0.11830	0.563000	0.77884	CGG		PASS	0.731	C1orf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092718.1			6	25	6	25	---	---	---	---
CAPN9	10753	broad.mit.edu	37	1	230903311	230903311	+	Silent	SNP	G	G	A			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr1:230903311G>A	ENST00000271971.2	+	5	674	c.561G>A	c.(559-561)ctG>ctA	p.L187L	CAPN9_ENST00000366666.2_Silent_p.L124L|CAPN9_ENST00000354537.1_Silent_p.L187L|RP11-99J16__A.2_ENST00000412344.1_RNA	NM_006615.2	NP_006606.1	O14815	CAN9_HUMAN	calpain 9	187	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				digestion (GO:0007586)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)	p.L187L(2)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				ATGAAGCTCTGAAGGGAGGCA	0.562																																						uc001htz.1																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(559-561)CTG>CTA		calpain 9 isoform 1							67.0	69.0	68.0					1																	230903311		2203	4300	6503	SO:0001819	synonymous_variant	10753				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr1:230903311G>A	AF022799	CCDS1586.1, CCDS31053.1	1q42.11-q42.3	2013-01-10	2004-11-11		ENSG00000135773	ENSG00000135773		"""EF-hand domain containing"""	1486	protein-coding gene	gene with protein product	"""novel calpain large subunit-4"""	606401	"""calpain 9 (nCL-4)"""			9524069, 10835488	Standard	XM_005273010		Approved	nCL-4, GC36	uc001htz.1	O14815	OTTHUMG00000037779	ENST00000271971.2:c.561G>A	1.37:g.230903311G>A						CAPN9_uc009xfg.1_Silent_p.L124L|CAPN9_uc001hua.1_Silent_p.L187L	p.L187L	NM_006615	NP_006606	O14815	CAN9_HUMAN			5	674	+	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)	187			Calpain catalytic.		B1APS1|B1AQI0|Q9NS74	Silent	SNP	ENST00000271971.2	37	c.561G>A	CCDS1586.1																																																																																				PASS	0.562	CAPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092179.1	NM_006615		50	134	50	134	---	---	---	---
IRF2BP2	359948	broad.mit.edu	37	1	234742956	234742956	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr1:234742956C>A	ENST00000366609.3	-	2	1721	c.1691G>T	c.(1690-1692)tGg>tTg	p.W564L	IRF2BP2_ENST00000366610.3_Missense_Mutation_p.W548L|IRF2BP2_ENST00000491430.1_5'Flank|RP4-781K5.2_ENST00000436039.1_RNA	NM_182972.2	NP_892017.2	Q7Z5L9	I2BP2_HUMAN	interferon regulatory factor 2 binding protein 2	564					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.W564L(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)			CATAAAGGCCCAGGGGACATT	0.488																																						uc001hwg.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1690-1692)TGG>TTG		interferon regulatory factor 2 binding protein 2							88.0	102.0	97.0					1																	234742956		2203	4300	6503	SO:0001583	missense	359948				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr1:234742956C>A	AY278023	CCDS1602.1, CCDS41475.1	1q42.3	2008-02-05			ENSG00000168264	ENSG00000168264			21729	protein-coding gene	gene with protein product		615332				12799427	Standard	NM_182972		Approved	IRF-2BP2	uc001hwg.3	Q7Z5L9	OTTHUMG00000037981	ENST00000366609.3:c.1691G>T	1.37:g.234742956C>A	ENSP00000355568:p.Trp564Leu					IRF2BP2_uc009xfw.2_Missense_Mutation_p.W174L|IRF2BP2_uc001hwf.2_Missense_Mutation_p.W548L	p.W564L	NM_182972	NP_892017	Q7Z5L9	I2BP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)		2	1722	-	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	564					B1AM35|B1AM36|Q6P083|Q7Z5L8|Q8N351|Q8WUH8	Missense_Mutation	SNP	ENST00000366609.3	37	c.1691G>T	CCDS1602.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.381898	0.82792	.	.	ENSG00000168264	ENST00000366610;ENST00000366609	T;T	0.71222	-0.49;-0.55	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.85465	0.5703	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.86295	0.1676	10	0.87932	D	0	-6.318	19.943	0.97172	0.0:1.0:0.0:0.0	.	564;548	Q7Z5L9;Q7Z5L9-2	I2BP2_HUMAN;.	L	548;564	ENSP00000355569:W548L;ENSP00000355568:W564L	ENSP00000355568:W564L	W	-	2	0	IRF2BP2	232809579	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.770000	0.85390	2.722000	0.93159	0.650000	0.86243	TGG		PASS	0.488	IRF2BP2-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000092705.1	NM_182972		192	132	192	132	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237806748	237806748	+	Splice_Site	SNP	G	G	C			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr1:237806748G>C	ENST00000366574.2	+	48	7659		c.e48+1		RYR2_ENST00000360064.6_Splice_Site|RYR2_ENST00000542537.1_Splice_Site	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)						BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.?(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATAGCCAAAGGTAAGGCCAAC	0.438																																						uc001hyl.1																			1	Unknown(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.e48+1		cardiac muscle ryanodine receptor							140.0	132.0	135.0					1																	237806748		1926	4116	6042	SO:0001630	splice_region_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237806748G>C	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.7342+1G>C	1.37:g.237806748G>C							p.D2448_splice	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		48	7462	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)						Q15411|Q546N8|Q5T3P2	Splice_Site	SNP	ENST00000366574.2	37	c.7342_splice	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.417608	0.83449	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	.	.	.	5.27	4.36	0.52297	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9382	0.64039	0.0734:0.0:0.9266:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RYR2	235873371	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.813000	0.99286	1.367000	0.46095	0.563000	0.77884	.		PASS	0.438	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	Intron	5	168	5	168	---	---	---	---
APOB	338	broad.mit.edu	37	2	21237993	21237993	+	Silent	SNP	G	G	A			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr2:21237993G>A	ENST00000233242.1	-	23	3775	c.3648C>T	c.(3646-3648)gtC>gtT	p.V1216V		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1216					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.V1216V(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGTTTGAGGGACTCTGTGAT	0.388																																						uc002red.2																			1	Substitution - coding silent(1)		lung(1)	ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(3646-3648)GTC>GTT		apolipoprotein B precursor	Atorvastatin(DB01076)						120.0	119.0	119.0					2																	21237993		2203	4300	6503	SO:0001819	synonymous_variant	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21237993G>A	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.3648C>T	2.37:g.21237993G>A							p.V1216V	NM_000384	NP_000375	P04114	APOB_HUMAN			23	3776	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1216					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	c.3648C>T	CCDS1703.1																																																																																				PASS	0.388	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			79	238	79	238	---	---	---	---
PLB1	151056	broad.mit.edu	37	2	28771759	28771759	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr2:28771759G>C	ENST00000327757.5	+	15	1013	c.969G>C	c.(967-969)ttG>ttC	p.L323F	PLB1_ENST00000329020.6_Missense_Mutation_p.L11F|PLB1_ENST00000422425.2_Missense_Mutation_p.L334F	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1	323	4 X 308-326 AA approximate repeats.				glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)	p.L323F(1)|p.L334F(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					ATGAGCCATTGAGTGTAAAAC	0.547																																						uc002rmb.1																			2	Substitution - Missense(2)		lung(2)	ovary(4)|large_intestine(2)|skin(2)|breast(1)	9						c.(967-969)TTG>TTC		phospholipase B1 precursor							81.0	75.0	77.0					2																	28771759		2203	4300	6503	SO:0001583	missense	151056				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity	g.chr2:28771759G>C		CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179				12150957	Standard	NM_153021		Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.969G>C	2.37:g.28771759G>C	ENSP00000330442:p.Leu323Phe					PLB1_uc010ezj.1_Missense_Mutation_p.L334F|PLB1_uc002rmc.2_Missense_Mutation_p.L11F	p.L323F	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN			15	969	+	Acute lymphoblastic leukemia(172;0.155)		323			4 X 308-326 AA approximate repeats.|Extracellular (Potential).|1.		A8KAX2|Q53S03|Q8IUP7|Q96DP9	Missense_Mutation	SNP	ENST00000327757.5	37	c.969G>C	CCDS33168.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.700|0.700	-0.791249|-0.791249	0.02884|0.02884	.|.	.|.	ENSG00000163803|ENSG00000163803	ENST00000327757;ENST00000422425;ENST00000436544;ENST00000329020|ENST00000404858	T;T;T;T|.	0.13196|.	2.68;2.68;2.61;2.62|.	5.85|5.85	2.09|2.09	0.27110|0.27110	.|.	1.091530|.	0.06831|.	N|.	0.793944|.	T|.	0.09335|.	0.0230|.	N|N	0.02129|0.02129	-0.67|-0.67	0.09310|0.09310	N|N	1|1	B;B;B|.	0.06786|.	0.001;0.001;0.001|.	B;B;B|.	0.10450|.	0.004;0.005;0.005|.	T|.	0.31336|.	-0.9947|.	10|.	0.09084|.	T|.	0.74|.	-3.6288|-3.6288	4.4598|4.4598	0.11661|0.11661	0.0:0.5566:0.1756:0.2678|0.0:0.5566:0.1756:0.2678	.|.	334;11;323|.	Q6P1J6-3;Q6P1J6-2;Q6P1J6|.	.;.;PLB1_HUMAN|.	F|S	323;334;33;11|333	ENSP00000330442:L323F;ENSP00000416440:L334F;ENSP00000392493:L33F;ENSP00000330729:L11F|.	ENSP00000330442:L323F|.	L|X	+|+	3|2	2|2	PLB1|PLB1	28625263|28625263	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.001000|0.001000	0.01503|0.01503	-0.053000|-0.053000	0.11846|0.11846	0.393000|0.393000	0.25203|0.25203	-0.311000|-0.311000	0.09066|0.09066	TTG|TGA		PASS	0.547	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353348.2			4	57	4	57	---	---	---	---
NRXN1	9378	broad.mit.edu	37	2	50724591	50724591	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr2:50724591G>T	ENST00000406316.2	-	14	4235	c.2759C>A	c.(2758-2760)aCc>aAc	p.T920N	NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000401710.1_5'Flank|NRXN1_ENST00000401669.2_Missense_Mutation_p.T920N|NRXN1_ENST00000402717.3_Missense_Mutation_p.T912N|NRXN1_ENST00000405472.3_Missense_Mutation_p.T912N|NRXN1_ENST00000406859.3_Missense_Mutation_p.T920N|NRXN1_ENST00000404971.1_Missense_Mutation_p.T960N	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	920	Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)	p.T920N(1)|p.T961N(1)|p.T960N(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GGCTTGCAAGGTAGCTAAGGC	0.398																																						uc010fbq.2																			3	Substitution - Missense(3)		lung(3)	ovary(2)	2						c.(2878-2880)ACC>AAC		neurexin 1 isoform alpha2 precursor							133.0	123.0	126.0					2																	50724591		1938	4166	6104	SO:0001583	missense	9378				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding	g.chr2:50724591G>T	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.2759C>A	2.37:g.50724591G>T	ENSP00000384311:p.Thr920Asn					NRXN1_uc002rxb.3_Missense_Mutation_p.T592N|NRXN1_uc002rxe.3_Missense_Mutation_p.T920N|NRXN1_uc002rxc.1_RNA	p.T960N	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		14	4356	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Error:Variant_position_missing_in_P58400_after_alignment					A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.2879C>A	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.992591	0.93167	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23;-1.23;-1.23	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.89825	0.6827	M	0.87456	2.885	0.52099	D	0.99994	D;D;D	0.71674	0.998;0.998;0.957	D;D;P	0.70716	0.97;0.962;0.691	D	0.90117	0.4196	10	0.59425	D	0.04	.	19.769	0.96353	0.0:0.0:1.0:0.0	.	960;920;912	Q9ULB1-3;F8WB18;A7E294	.;.;.	N	960;920;912;920;961;912;920	ENSP00000385142:T960N;ENSP00000384311:T920N;ENSP00000434015:T912N;ENSP00000385017:T920N;ENSP00000385434:T912N;ENSP00000385681:T920N	ENSP00000385017:T920N	T	-	2	0	NRXN1	50578095	1.000000	0.71417	0.989000	0.46669	0.993000	0.82548	9.657000	0.98554	2.906000	0.99361	0.655000	0.94253	ACC		PASS	0.398	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			16	76	16	76	---	---	---	---
USP34	9736	broad.mit.edu	37	2	61510333	61510333	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr2:61510333C>G	ENST00000398571.2	-	37	5021	c.4945G>C	c.(4945-4947)Gat>Cat	p.D1649H		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1649					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.D1649H(1)		autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TGATCGCTATCAGCAAGGCTA	0.338																																						uc002sbe.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19						c.(4945-4947)GAT>CAT		ubiquitin specific protease 34							90.0	86.0	87.0					2																	61510333		1859	4104	5963	SO:0001583	missense	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61510333C>G	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.4945G>C	2.37:g.61510333C>G	ENSP00000381577:p.Asp1649His					USP34_uc002sbf.2_5'Flank	p.D1649H	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		37	4967	-			1649					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	c.4945G>C	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	C	32	5.106034	0.94292	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571	T	0.03580	3.88	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.13072	0.0317	L	0.36672	1.1	0.80722	D	1	D	0.76494	0.999	D	0.74023	0.982	T	0.00998	-1.1486	10	0.56958	D	0.05	.	19.9059	0.97007	0.0:1.0:0.0:0.0	.	1649	Q70CQ2	UBP34_HUMAN	H	1497;1497;1649	ENSP00000381577:D1649H	ENSP00000263989:D1497H	D	-	1	0	USP34	61363837	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.693000	0.91896	0.655000	0.94253	GAT		PASS	0.338	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			26	202	26	202	---	---	---	---
RGPD1	400966	broad.mit.edu	37	2	87214094	87214094	+	Nonsense_Mutation	SNP	A	A	T			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr2:87214094A>T	ENST00000559485.1	+	20	4064	c.4048A>T	c.(4048-4050)Aga>Tga	p.R1350*	RGPD1_ENST00000398193.3_Nonsense_Mutation_p.R1358*|RGPD1_ENST00000409776.2_Nonsense_Mutation_p.R1350*	NM_001024457.3	NP_001019628.3	P0DJD0	RGPD1_HUMAN	RANBP2-like and GRIP domain containing 1	1350	RanBD1 2. {ECO:0000255|PROSITE- ProRule:PRU00164}.				protein targeting to Golgi (GO:0000042)			p.R1358*(2)		breast(1)|endometrium(1)|lung(1)	3						AGAACTCTACAGATATGATAA	0.358																																						uc010fgv.2																			2	Substitution - Nonsense(2)		lung(2)		0						c.(4072-4074)AGA>TGA		RANBP2-like and GRIP domain containing 1							14.0	17.0	16.0					2																	87214094		1872	4245	6117	SO:0001587	stop_gained	400966				intracellular transport		binding	g.chr2:87214094A>T		CCDS46358.1, CCDS46358.2	2p11.2	2013-09-24			ENSG00000187627	ENSG00000187627		"""Tetratricopeptide (TTC) repeat domain containing"""	32414	protein-coding gene	gene with protein product		612704				15710750, 15815621	Standard	NM_001024457		Approved	RGP1	uc021vkh.1	P0DJD0	OTTHUMG00000153248	ENST00000559485.1:c.4048A>T	2.37:g.87214094A>T	ENSP00000453170:p.Arg1350*					RMND5A_uc002srs.3_Intron|RGPD1_uc002ssb.2_Nonsense_Mutation_p.R1347*|RGPD1_uc002ssc.2_Nonsense_Mutation_p.R615*	p.R1358*	NM_001024457	NP_001019628	Q68DN6	RGPD1_HUMAN			20	4139	+			1350			RanBD1 2.		P0C839|Q68DN6|Q6V1X0	Nonsense_Mutation	SNP	ENST00000559485.1	37	c.4072A>T	CCDS46358.2	.	.	.	.	.	.	.	.	.	.	.	40	8.085816	0.98646	.	.	ENSG00000187627	ENST00000409776;ENST00000398193;ENST00000456925	.	.	.	2.35	2.35	0.29111	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-30.0105	8.2513	0.31724	1.0:0.0:0.0:0.0	.	.	.	.	X	1350;1358;269	.	ENSP00000381253:R1358X	R	+	1	2	RGPD1	87067605	1.000000	0.71417	0.995000	0.50966	0.470000	0.32858	4.499000	0.60380	1.080000	0.41073	0.155000	0.16302	AGA		PASS	0.358	RGPD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330684.4	NM_001024457		111	242	111	242	---	---	---	---
SLC5A7	60482	broad.mit.edu	37	2	108608587	108608587	+	Silent	SNP	C	C	T			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr2:108608587C>T	ENST00000264047.2	+	3	480	c.204C>T	c.(202-204)atC>atT	p.I68I	SLC5A7_ENST00000540517.1_5'UTR|SLC5A7_ENST00000409059.1_Silent_p.I68I	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	68					acetylcholine biosynthetic process (GO:0008292)|cell death (GO:0008219)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	choline binding (GO:0033265)|choline transmembrane transporter activity (GO:0015220)|choline:sodium symporter activity (GO:0005307)	p.I68I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	GAGGGTATATCAATGGCACAG	0.458																																						uc002tdv.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(202-204)ATC>ATT		solute carrier family 5 (choline transporter),	Choline(DB00122)						174.0	148.0	157.0					2																	108608587		2203	4300	6503	SO:0001819	synonymous_variant	60482				acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	g.chr2:108608587C>T	AF276871	CCDS2074.1	2q12	2013-07-19	2013-07-19		ENSG00000115665	ENSG00000115665		"""Solute carriers"""	14025	protein-coding gene	gene with protein product		608761	"""solute carrier family 5 (choline transporter), member 7"""			11027560	Standard	NM_021815		Approved	hCHT, CHT1	uc002tdv.3	Q9GZV3	OTTHUMG00000130959	ENST00000264047.2:c.204C>T	2.37:g.108608587C>T						SLC5A7_uc010ywm.1_5'UTR|SLC5A7_uc010fjj.2_Silent_p.I68I|SLC5A7_uc010ywn.1_5'UTR	p.I68I	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN			3	480	+			68			Helical; (Potential).		Q53TF2	Silent	SNP	ENST00000264047.2	37	c.204C>T	CCDS2074.1																																																																																				PASS	0.458	SLC5A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253562.1			25	89	25	89	---	---	---	---
THSD7B	80731	broad.mit.edu	37	2	137814256	137814256	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr2:137814256C>T	ENST00000409968.1	+	3	584	c.406C>T	c.(406-408)Cat>Tat	p.H136Y	THSD7B_ENST00000272643.3_Missense_Mutation_p.H136Y|THSD7B_ENST00000543459.1_5'Flank|THSD7B_ENST00000413152.2_Missense_Mutation_p.H105Y			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	136	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)		p.H105Y(1)|p.H136Y(1)		NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GACGGCTCAGCATGGACTGCA	0.542																																						uc002tva.1																			2	Substitution - Missense(2)		lung(2)	ovary(4)|central_nervous_system(2)|pancreas(1)	7						c.(313-315)CAT>TAT		thrombospondin, type I, domain containing 7B							81.0	85.0	84.0					2																	137814256		2055	4218	6273	SO:0001583	missense	80731							g.chr2:137814256C>T			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.406C>T	2.37:g.137814256C>T	ENSP00000387145:p.His136Tyr					THSD7B_uc010zbj.1_RNA|THSD7B_uc002tvb.2_5'UTR	p.H105Y	NM_001080427	NP_001073896				BRCA - Breast invasive adenocarcinoma(221;0.19)	2	313	+									Missense_Mutation	SNP	ENST00000409968.1	37	c.313C>T		.	.	.	.	.	.	.	.	.	.	C	25.8	4.676117	0.88445	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.60424	0.19;0.19;0.19	6.07	6.07	0.98685	.	0.042696	0.85682	D	0.000000	T	0.72637	0.3485	M	0.64997	1.995	0.80722	D	1	D	0.76494	0.999	D	0.70227	0.968	T	0.70400	-0.4882	9	.	.	.	.	15.7038	0.77563	0.0:0.8638:0.1362:0.0	.	105	C9JKN6	.	Y	136;136;105	ENSP00000387145:H136Y;ENSP00000272643:H136Y;ENSP00000413841:H105Y	.	H	+	1	0	THSD7B	137530726	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	4.903000	0.63272	2.890000	0.99128	0.585000	0.79938	CAT		PASS	0.542	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		29	89	29	89	---	---	---	---
THSD7B	80731	broad.mit.edu	37	2	138000107	138000107	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr2:138000107G>T	ENST00000409968.1	+	10	2409	c.2231G>T	c.(2230-2232)aGt>aTt	p.S744I	THSD7B_ENST00000272643.3_Missense_Mutation_p.S744I|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.S713I			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	744	TSP type-1 9. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)		p.S744I(1)|p.S713I(1)		NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		ACTGCTTTCAGTGAGTGGACA	0.463																																						uc002tva.1																			2	Substitution - Missense(2)		lung(2)	ovary(4)|central_nervous_system(2)|pancreas(1)	7						c.(2137-2139)AGT>ATT		thrombospondin, type I, domain containing 7B							120.0	117.0	118.0					2																	138000107		1992	4185	6177	SO:0001583	missense	80731							g.chr2:138000107G>T			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.2231G>T	2.37:g.138000107G>T	ENSP00000387145:p.Ser744Ile					THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.2_Missense_Mutation_p.S603I	p.S713I	NM_001080427	NP_001073896				BRCA - Breast invasive adenocarcinoma(221;0.19)	9	2138	+									Missense_Mutation	SNP	ENST00000409968.1	37	c.2138G>T		.	.	.	.	.	.	.	.	.	.	G	29.8	5.040554	0.93630	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.24350	1.86;1.86;1.86	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.61912	0.2385	M	0.90759	3.145	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.67964	-0.5534	10	0.66056	D	0.02	.	20.0124	0.97464	0.0:0.0:1.0:0.0	.	744;713	Q9C0I4;C9JKN6	THS7B_HUMAN;.	I	744;744;713	ENSP00000387145:S744I;ENSP00000272643:S744I;ENSP00000413841:S713I	ENSP00000272643:S744I	S	+	2	0	THSD7B	137716577	1.000000	0.71417	0.999000	0.59377	0.975000	0.68041	9.230000	0.95299	2.749000	0.94314	0.655000	0.94253	AGT		PASS	0.463	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		35	66	35	66	---	---	---	---
OSBPL6	114880	broad.mit.edu	37	2	179201135	179201135	+	Silent	SNP	G	G	T			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr2:179201135G>T	ENST00000190611.4	+	9	1141	c.765G>T	c.(763-765)tcG>tcT	p.S255S	OSBPL6_ENST00000409045.3_Silent_p.S255S|OSBPL6_ENST00000392505.2_Silent_p.S255S|OSBPL6_ENST00000359685.3_Silent_p.S255S|OSBPL6_ENST00000315022.2_Silent_p.S234S|OSBPL6_ENST00000409631.1_Silent_p.S255S|OSBPL6_ENST00000357080.4_Silent_p.S255S	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	255					lipid transport (GO:0006869)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)	p.S255S(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			TACAGGACTCGGAAGAGATGG	0.507																																						uc002ulx.2																			2	Substitution - coding silent(2)		lung(2)	pancreas(1)	1						c.(763-765)TCG>TCT		oxysterol-binding protein-like protein 6 isoform							143.0	142.0	143.0					2																	179201135		2203	4300	6503	SO:0001819	synonymous_variant	114880				lipid transport		lipid binding	g.chr2:179201135G>T	AF392448	CCDS2277.1, CCDS2278.1, CCDS56150.1, CCDS56151.1, CCDS56152.1	2q32.1	2008-05-27			ENSG00000079156	ENSG00000079156		"""Oxysterol binding proteins"""	16388	protein-coding gene	gene with protein product	"""OSBP-related protein 6"""	606734				11483621	Standard	NM_001201480		Approved	ORP6	uc002uly.3	Q9BZF3	OTTHUMG00000132579	ENST00000190611.4:c.765G>T	2.37:g.179201135G>T						OSBPL6_uc002ulw.2_Silent_p.S255S|OSBPL6_uc002uly.2_Silent_p.S255S|OSBPL6_uc010zfe.1_Silent_p.S255S|OSBPL6_uc002ulz.2_Silent_p.S255S|OSBPL6_uc002uma.2_Silent_p.S234S	p.S255S	NM_032523	NP_115912	Q9BZF3	OSBL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)		9	1143	+			255					B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q86V84|Q8N9T0|Q96SR1	Silent	SNP	ENST00000190611.4	37	c.765G>T	CCDS2277.1																																																																																				PASS	0.507	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334393.2	NM_032523		93	213	93	213	---	---	---	---
CCDC141	285025	broad.mit.edu	37	2	179736975	179736975	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr2:179736975T>C	ENST00000420890.2	-	13	2081	c.1964A>G	c.(1963-1965)aAc>aGc	p.N655S	CCDC141_ENST00000295723.5_Missense_Mutation_p.N80S	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	655								p.N655S(1)|p.N80S(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TGCTTTCTGGTTTTCCATGGT	0.413																																						uc002unf.1																			2	Substitution - Missense(2)		lung(2)	ovary(7)|pancreas(2)|skin(1)	10						c.(238-240)AAC>AGC		coiled-coil domain containing 141							164.0	142.0	149.0					2																	179736975		2203	4300	6503	SO:0001583	missense	285025						protein binding	g.chr2:179736975T>C	AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26821	protein-coding gene	gene with protein product	"""coiled-coil protein associated with myosin II and DISC1"""					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000420890.2:c.1964A>G	2.37:g.179736975T>C	ENSP00000395995:p.Asn655Ser						p.N80S	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)		3	296	-			80			Potential.		H7C0P1|J3KNW6|Q8N8H3	Missense_Mutation	SNP	ENST00000420890.2	37	c.239A>G		.	.	.	.	.	.	.	.	.	.	T	0.528	-0.859343	0.02610	.	.	ENSG00000163492	ENST00000420890;ENST00000343876;ENST00000295723;ENST00000443758;ENST00000446116	T;T;T;T	0.42513	0.97;1.56;1.56;1.59	5.62	0.148	0.14843	.	0.469001	0.19081	N	0.123258	T	0.13713	0.0332	N	0.04508	-0.205	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.20806	-1.0264	10	0.08599	T	0.76	-0.0631	2.7977	0.05406	0.1359:0.0916:0.1402:0.6323	.	80	Q6ZP82	CC141_HUMAN	S	655;99;80;655;590	ENSP00000395995:N655S;ENSP00000344627:N99S;ENSP00000295723:N80S;ENSP00000390190:N655S	ENSP00000295723:N80S	N	-	2	0	CCDC141	179445220	0.097000	0.21791	0.122000	0.21767	0.036000	0.12997	0.002000	0.13061	-0.213000	0.10094	-0.429000	0.05907	AAC		PASS	0.413	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173648		31	101	31	101	---	---	---	---
PTH2R	5746	broad.mit.edu	37	2	209358341	209358341	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr2:209358341C>A	ENST00000272847.2	+	13	1823	c.1610C>A	c.(1609-1611)cCa>cAa	p.P537Q	AC019185.4_ENST00000424628.1_RNA|PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	537					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	parathyroid hormone receptor activity (GO:0004991)	p.P537Q(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	Preotact(DB05829)	GAATCTAACCCAGACACTGAA	0.507																																						uc002vdb.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|skin(1)	3						c.(1609-1611)CCA>CAA		parathyroid hormone 2 receptor precursor							84.0	85.0	84.0					2																	209358341		2203	4300	6503	SO:0001583	missense	5746					integral to plasma membrane	parathyroid hormone receptor activity	g.chr2:209358341C>A	BC036811	CCDS2383.1	2q33	2012-08-10	2007-08-24	2007-08-24	ENSG00000144407	ENSG00000144407		"""GPCR / Class B : Parathyroid hormone receptors"""	9609	protein-coding gene	gene with protein product		601469	"""parathyroid hormone receptor 2"""	PTHR2			Standard	NM_005048		Approved		uc002vdb.4	P49190	OTTHUMG00000132960	ENST00000272847.2:c.1610C>A	2.37:g.209358341C>A	ENSP00000272847:p.Pro537Gln					PTH2R_uc010zjb.1_Missense_Mutation_p.P548Q|PTH2R_uc010fuo.1_Intron	p.P537Q	NM_005048	NP_005039	P49190	PTH2R_HUMAN		Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	13	1823	+			537			Cytoplasmic (Potential).		Q8N429	Missense_Mutation	SNP	ENST00000272847.2	37	c.1610C>A	CCDS2383.1	.	.	.	.	.	.	.	.	.	.	C	5.858	0.342506	0.11069	.	.	ENSG00000144407	ENST00000272847	T	0.49432	0.78	5.6	2.53	0.30540	.	1.409020	0.05169	U	0.499187	T	0.36991	0.0987	L	0.36672	1.1	0.09310	N	1	B;B	0.17852	0.024;0.006	B;B	0.10450	0.005;0.003	T	0.21484	-1.0244	9	.	.	.	.	5.2051	0.15287	0.0:0.6119:0.1682:0.2199	.	426;537	B4DFN8;P49190	.;PTH2R_HUMAN	Q	537	ENSP00000272847:P537Q	.	P	+	2	0	PTH2R	209066586	0.000000	0.05858	0.001000	0.08648	0.021000	0.10359	-0.271000	0.08572	0.579000	0.29504	0.591000	0.81541	CCA		PASS	0.507	PTH2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256519.2	NM_005048		40	132	40	132	---	---	---	---
FN1	2335	broad.mit.edu	37	2	216296577	216296577	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr2:216296577C>G	ENST00000359671.1	-	4	791	c.526G>C	c.(526-528)Gaa>Caa	p.E176Q	FN1_ENST00000323926.6_Missense_Mutation_p.E176Q|FN1_ENST00000432072.2_Missense_Mutation_p.E176Q|FN1_ENST00000356005.4_Missense_Mutation_p.E176Q|FN1_ENST00000345488.5_Missense_Mutation_p.E176Q|FN1_ENST00000421182.1_Missense_Mutation_p.E176Q|FN1_ENST00000357867.4_Missense_Mutation_p.E176Q|FN1_ENST00000446046.1_Missense_Mutation_p.E176Q|FN1_ENST00000443816.1_Missense_Mutation_p.E176Q|FN1_ENST00000354785.4_Missense_Mutation_p.E176Q|FN1_ENST00000336916.4_Missense_Mutation_p.E176Q|FN1_ENST00000346544.3_Missense_Mutation_p.E176Q|FN1_ENST00000426059.1_Missense_Mutation_p.E176Q|FN1_ENST00000357009.2_Missense_Mutation_p.E176Q			P02751	FINC_HUMAN	fibronectin 1	176	Fibrin- and heparin-binding 1.|Fibronectin type-I 3. {ECO:0000255|PROSITE-ProRule:PRU00478}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)	p.E176Q(2)	FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	CAGGTCCATTCTCCTTTTCCA	0.488																																						uc002vfa.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13						c.(526-528)GAA>CAA		fibronectin 1 isoform 1 preproprotein	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						262.0	216.0	231.0					2																	216296577		2203	4300	6503	SO:0001583	missense	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216296577C>G		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.526G>C	2.37:g.216296577C>G	ENSP00000352696:p.Glu176Gln					FN1_uc002vfb.2_Missense_Mutation_p.E176Q|FN1_uc002vfc.2_Missense_Mutation_p.E176Q|FN1_uc002vfd.2_Missense_Mutation_p.E176Q|FN1_uc002vfe.2_Missense_Mutation_p.E176Q|FN1_uc002vff.2_Missense_Mutation_p.E176Q|FN1_uc002vfg.2_Missense_Mutation_p.E176Q|FN1_uc002vfh.2_Missense_Mutation_p.E176Q|FN1_uc002vfi.2_Missense_Mutation_p.E176Q|FN1_uc002vfj.2_Missense_Mutation_p.E176Q|FN1_uc002vfl.2_Missense_Mutation_p.E176Q	p.E176Q	NM_212482	NP_997647	P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	4	792	-		Renal(323;0.127)	176			Fibrin- and heparin-binding 1.|Fibronectin type-I 3.		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37	c.526G>C		.	.	.	.	.	.	.	.	.	.	C	34	5.408444	0.96051	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000426059	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.73;0.73;0.73;0.73;0.73;0.73;0.73;0.73;0.73;0.73	5.78	5.78	0.91487	.	0.000000	0.64402	D	0.000001	T	0.69006	0.3063	M	0.64170	1.965	0.80722	D	1	D;D;D;P;D;D;D;D;D;D;D	0.89917	1.0;0.995;0.999;0.919;1.0;1.0;1.0;0.977;1.0;1.0;0.997	D;D;D;B;D;D;D;D;D;D;D	0.91635	0.999;0.991;0.97;0.409;0.997;0.998;0.999;0.932;0.997;0.997;0.995	T	0.69049	-0.5248	10	0.87932	D	0	.	20.3754	0.98918	0.0:1.0:0.0:0.0	.	176;176;176;176;176;176;176;176;176;176;176	E9PG29;P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.;.	Q	176	ENSP00000394423:E176Q;ENSP00000323534:E176Q;ENSP00000338200:E176Q;ENSP00000350534:E176Q;ENSP00000346839:E176Q;ENSP00000352696:E176Q;ENSP00000265312:E176Q;ENSP00000273049:E176Q;ENSP00000349509:E176Q;ENSP00000410422:E176Q;ENSP00000415018:E176Q;ENSP00000399538:E176Q;ENSP00000348285:E176Q;ENSP00000398907:E176Q	ENSP00000265313:E176Q	E	-	1	0	FN1	216004822	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.445000	0.80570	2.894000	0.99253	0.591000	0.81541	GAA		PASS	0.488	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		10	312	10	312	---	---	---	---
SPP2	6694	broad.mit.edu	37	2	234975204	234975204	+	Missense_Mutation	SNP	C	C	G	rs575643795		TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr2:234975204C>G	ENST00000168148.3	+	5	560	c.472C>G	c.(472-474)Cat>Gat	p.H158D	SPP2_ENST00000373368.1_Missense_Mutation_p.H158D	NM_006944.2	NP_008875.1	Q13103	SPP24_HUMAN	secreted phosphoprotein 2, 24kDa	158					bone remodeling (GO:0046849)|negative regulation of endopeptidase activity (GO:0010951)|protein complex assembly (GO:0006461)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	endopeptidase inhibitor activity (GO:0004866)	p.H158D(1)		breast(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12		Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182)		Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846)		GTTGGGATCTCATAAATGGAG	0.313																																						uc002vvk.1																			1	Substitution - Missense(1)		lung(1)		0						c.(472-474)CAT>GAT		secreted phosphoprotein 2, 24kDa precursor							150.0	152.0	151.0					2																	234975204		2203	4298	6501	SO:0001583	missense	6694				bone remodeling|skeletal system development	extracellular region	endopeptidase inhibitor activity	g.chr2:234975204C>G		CCDS2511.1	2q37.1	2012-08-14	2002-08-29		ENSG00000072080	ENSG00000072080			11256	protein-coding gene	gene with protein product		602637	"""secreted phosphoprotein 2, 24kD"""			9533032	Standard	XM_005246102		Approved	SPP24	uc002vvk.1	Q13103	OTTHUMG00000059208	ENST00000168148.3:c.472C>G	2.37:g.234975204C>G	ENSP00000168148:p.His158Asp					SPP2_uc010fyl.1_Missense_Mutation_p.H78D	p.H158D	NM_006944	NP_008875	Q13103	SPP24_HUMAN		Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846)	5	557	+		Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182)	158					A4QMV3|Q3B892|Q546M5	Missense_Mutation	SNP	ENST00000168148.3	37	c.472C>G	CCDS2511.1	.	.	.	.	.	.	.	.	.	.	C	1.326	-0.598211	0.03744	.	.	ENSG00000072080	ENST00000373368;ENST00000168148;ENST00000425558	T;T	0.45668	0.89;0.89	4.06	-1.83	0.07833	.	1.529410	0.03578	N	0.229666	T	0.33469	0.0864	L	0.47716	1.5	0.09310	N	1	B	0.26195	0.144	B	0.28011	0.085	T	0.18272	-1.0342	10	0.35671	T	0.21	-3.982	2.3866	0.04367	0.3963:0.2845:0.0:0.3192	.	158	Q13103	SPP24_HUMAN	D	158;158;78	ENSP00000362466:H158D;ENSP00000168148:H158D	ENSP00000168148:H158D	H	+	1	0	SPP2	234639943	0.000000	0.05858	0.002000	0.10522	0.209000	0.24338	0.258000	0.18387	-0.079000	0.12707	0.454000	0.30748	CAT		PASS	0.313	SPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131313.3	NM_006944		30	138	30	138	---	---	---	---
HDAC4	9759	broad.mit.edu	37	2	240055998	240055998	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr2:240055998G>C	ENST00000345617.3	-	11	2028	c.1237C>G	c.(1237-1239)Ctt>Gtt	p.L413V	HDAC4_ENST00000553145.1_5'Flank|HDAC4_ENST00000543185.1_5'UTR|HDAC4_ENST00000541256.1_Missense_Mutation_p.L382V	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	413					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.L413V(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		TGCTGCAGAAGAGGGCTGTGC	0.667																																						uc002vyk.3																			1	Substitution - Missense(1)		lung(1)	breast(3)|skin(2)|ovary(1)	6						c.(1237-1239)CTT>GTT		histone deacetylase 4							48.0	43.0	45.0					2																	240055998		2203	4300	6503	SO:0001583	missense	9759				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding	g.chr2:240055998G>C	AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024			14063	protein-coding gene	gene with protein product		605314	"""brachydactyly-mental retardation syndrome"""	BDMR		10206986, 10220385, 20691407	Standard	NM_006037		Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.1237C>G	2.37:g.240055998G>C	ENSP00000264606:p.Leu413Val					HDAC4_uc010fyz.1_Missense_Mutation_p.L408V|HDAC4_uc010zoa.1_Missense_Mutation_p.L408V|HDAC4_uc010fza.2_Missense_Mutation_p.L413V|HDAC4_uc010fyy.2_Missense_Mutation_p.L365V|HDAC4_uc010znz.1_Missense_Mutation_p.L296V|HDAC4_uc010fzb.1_RNA	p.L413V	NM_006037	NP_006028	P56524	HDAC4_HUMAN		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)	11	2029	-		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)	413					Q9UND6	Missense_Mutation	SNP	ENST00000345617.3	37	c.1237C>G	CCDS2529.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.211470	0.79240	.	.	ENSG00000068024	ENST00000345617;ENST00000456922;ENST00000541256;ENST00000393621	T;T	0.62105	0.05;1.21	4.45	4.45	0.53987	.	0.000000	0.85682	D	0.000000	T	0.81413	0.4817	M	0.85041	2.73	0.80722	D	1	D;D;D;D;P;D	0.89917	0.997;1.0;0.96;0.999;0.714;0.999	D;D;P;D;B;D	0.83275	0.978;0.987;0.882;0.996;0.194;0.91	D	0.84098	0.0394	9	.	.	.	.	18.0025	0.89201	0.0:0.0:1.0:0.0	.	408;296;382;382;381;413	B7Z8G5;F5H0Q9;F5H5W4;B7Z8I2;Q53SM2;P56524	.;.;.;.;.;HDAC4_HUMAN	V	413;296;382;296	ENSP00000264606:L413V;ENSP00000443057:L382V	.	L	-	1	0	HDAC4	239720935	1.000000	0.71417	0.139000	0.22197	0.774000	0.43823	6.824000	0.75288	2.409000	0.81822	0.655000	0.94253	CTT		PASS	0.667	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257174.2	NM_006037		17	44	17	44	---	---	---	---
CTNNB1	1499	broad.mit.edu	37	3	41266698	41266698	+	Splice_Site	SNP	G	G	T			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr3:41266698G>T	ENST00000349496.5	+	4	775	c.495G>T	c.(493-495)caG>caT	p.Q165H	CTNNB1_ENST00000405570.1_Splice_Site_p.Q165H|CTNNB1_ENST00000453024.1_Splice_Site_p.Q158H|CTNNB1_ENST00000396185.3_Splice_Site_p.Q165H|CTNNB1_ENST00000396183.3_Splice_Site_p.Q165H	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	165	Interaction with BCL9.				adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.M1_V173del(1)|p.Q165H(1)|p.I35_K170del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		ACGAGGACCAGGTAAGCAATG	0.398		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)	uc010hia.1		15		Dom	yes		3	3p22-p21.3	1499	H|Mis|T	"""catenin (cadherin-associated protein), beta 1"""			"""E, M, O"""	PLAG1		colorectal|cvarian| hepatoblastoma|others|pleomorphic salivary adenoma	CTNNB1/PLAG1(60)	3	Deletion - In frame(2)|Substitution - Missense(1)	p.M1_V173del(1)|p.I35_K170del(1)	lung(1)|liver(1)|skin(1)	liver(806)|soft_tissue(609)|large_intestine(243)|endometrium(222)|kidney(172)|stomach(157)|central_nervous_system(139)|ovary(104)|skin(97)|pancreas(91)|adrenal_gland(85)|pituitary(81)|salivary_gland(62)|haematopoietic_and_lymphoid_tissue(57)|thyroid(55)|biliary_tract(41)|lung(38)|prostate(24)|bone(20)|small_intestine(17)|cervix(9)|parathyroid(9)|urinary_tract(8)|breast(7)|oesophagus(5)|NS(3)|pleura(2)|upper_aerodigestive_tract(2)|eye(1)	3166						c.(493-495)CAG>CAT		beta-catenin	Lithium(DB01356)						111.0	106.0	108.0					3																	41266698		2203	4300	6503	SO:0001630	splice_region_variant	1499	Pilomatrixoma_Familial_Clustering_of	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr3:41266698G>T	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"""Armadillo repeat containing"""	2514	protein-coding gene	gene with protein product		116806	"""catenin (cadherin-associated protein), beta 1 (88kD)"""	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.495+1G>T	3.37:g.41266698G>T						CTNNB1_uc003ckp.2_Missense_Mutation_p.Q165H|CTNNB1_uc003ckq.2_Missense_Mutation_p.Q165H|CTNNB1_uc003ckr.2_Missense_Mutation_p.Q165H|CTNNB1_uc011azf.1_Missense_Mutation_p.Q158H|CTNNB1_uc011azg.1_Missense_Mutation_p.Q93H|uc010hib.1_5'Flank	p.Q165H	NM_001904	NP_001895	P35222	CTNB1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	5	651	+			165			ARM 1.		A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	37	c.495G>T	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	G	18.00	3.525697	0.64860	.	.	ENSG00000168036	ENST00000405570;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185	T;T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19;-0.19	5.7	5.7	0.88788	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.64778	0.2629	M	0.75615	2.305	0.80722	D	1	P;B	0.44260	0.83;0.184	B;B	0.37508	0.252;0.022	T	0.70597	-0.4828	10	0.54805	T	0.06	-15.6668	19.8405	0.96681	0.0:0.0:1.0:0.0	.	93;165	B4DSW9;P35222	.;CTNB1_HUMAN	H	165;165;165;158;165	ENSP00000385604:Q165H;ENSP00000379486:Q165H;ENSP00000344456:Q165H;ENSP00000411226:Q158H;ENSP00000379488:Q165H	ENSP00000344456:Q165H	Q	+	3	2	CTNNB1	41241702	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	9.869000	0.99810	2.692000	0.91855	0.655000	0.94253	CAG		PASS	0.398	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210	Missense_Mutation	38	78	38	78	---	---	---	---
BSN	8927	broad.mit.edu	37	3	49690377	49690377	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr3:49690377C>A	ENST00000296452.4	+	5	3502	c.3388C>A	c.(3388-3390)Ccc>Acc	p.P1130T		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1130					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)	p.P1130T(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CTCACCCTCACCCTCCCTTGA	0.612																																						uc003cxe.3																			1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						c.(3388-3390)CCC>ACC		bassoon protein							64.0	63.0	64.0					3																	49690377		2203	4300	6503	SO:0001583	missense	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49690377C>A	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.3388C>A	3.37:g.49690377C>A	ENSP00000296452:p.Pro1130Thr						p.P1130T	NM_003458	NP_003449	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	5	3502	+			1130					O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	c.3388C>A	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	C	11.81	1.749947	0.30955	.	.	ENSG00000164061	ENST00000296452	T	0.27104	1.69	5.24	5.24	0.73138	.	0.000000	0.51477	D	0.000099	T	0.35913	0.0948	L	0.40543	1.245	0.37452	D	0.914873	D	0.56521	0.976	P	0.52481	0.7	T	0.31166	-0.9953	10	0.62326	D	0.03	.	18.8333	0.92150	0.0:1.0:0.0:0.0	.	1130	Q9UPA5	BSN_HUMAN	T	1130	ENSP00000296452:P1130T	ENSP00000296452:P1130T	P	+	1	0	BSN	49665381	0.758000	0.28405	0.944000	0.38274	0.808000	0.45660	3.522000	0.53480	2.468000	0.83385	0.561000	0.74099	CCC		PASS	0.612	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		52	121	52	121	---	---	---	---
CACNA2D2	9254	broad.mit.edu	37	3	50402576	50402576	+	Silent	SNP	G	G	C			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr3:50402576G>C	ENST00000479441.1	-	37	3158	c.3159C>G	c.(3157-3159)ctC>ctG	p.L1053L	XXcos-LUCA11.4_ENST00000607362.1_RNA|XXcos-LUCA11.4_ENST00000607088.1_RNA|XXcos-LUCA11.4_ENST00000607583.1_RNA|CACNA2D2_ENST00000423994.2_Silent_p.L1054L|XXcos-LUCA11.4_ENST00000606259.1_RNA|XXcos-LUCA11.4_ENST00000606665.1_RNA|CACNA2D2_ENST00000429770.1_Silent_p.L1047L|CACNA2D2_ENST00000395083.1_Silent_p.L1046L|CACNA2D2_ENST00000424201.2_Silent_p.L1046L|XXcos-LUCA11.4_ENST00000607121.1_RNA|XXcos-LUCA11.5_ENST00000606589.1_Intron|CACNA2D2_ENST00000435965.1_Silent_p.L1053L|CACNA2D2_ENST00000360963.3_Silent_p.L977L|CACNA2D2_ENST00000266039.3_Silent_p.L1046L			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	1053					energy reserve metabolic process (GO:0006112)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|positive regulation of organ growth (GO:0046622)|regulation of insulin secretion (GO:0050796)|regulation of multicellular organism growth (GO:0040014)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.L1046L(1)		breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Amiodarone(DB01118)|Bepridil(DB01244)|Felodipine(DB01023)|Gabapentin(DB00996)|Isradipine(DB00270)|Nitrendipine(DB01054)|Spironolactone(DB00421)	CCACCACAAAGAGAAGATTGG	0.682																																						uc003daq.2																			1	Substitution - coding silent(1)		lung(1)	lung(1)	1						c.(3157-3159)CTC>CTG		calcium channel, voltage-dependent, alpha	Gabapentin(DB00996)						28.0	33.0	31.0					3																	50402576		2186	4270	6456	SO:0001819	synonymous_variant	9254				energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr3:50402576G>C	AF040709	CCDS33763.1, CCDS54588.1, CCDS63647.1	3p21.3	2004-02-27			ENSG00000007402	ENSG00000007402		"""Calcium channel subunits"""	1400	protein-coding gene	gene with protein product	"""gene 26"""	607082					Standard	XM_005265581		Approved	KIAA0558	uc003daq.3	Q9NY47	OTTHUMG00000156887	ENST00000479441.1:c.3159C>G	3.37:g.50402576G>C						CACNA2D2_uc003dap.2_Silent_p.L1046L|CACNA2D2_uc003dao.2_Missense_Mutation_p.L92V	p.L1053L	NM_006030	NP_006021	Q9NY47	CA2D2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	37	3197	-			1053			Extracellular (Potential).		A7MD15|Q9NY48|Q9UEW0|Q9Y268	Silent	SNP	ENST00000479441.1	37	c.3159C>G	CCDS54588.1																																																																																				PASS	0.682	CACNA2D2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346457.1	NM_006030		20	42	20	42	---	---	---	---
CADPS	8618	broad.mit.edu	37	3	62518672	62518672	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr3:62518672C>A	ENST00000383710.4	-	13	2514	c.2165G>T	c.(2164-2166)cGg>cTg	p.R722L	CADPS_ENST00000357948.3_Missense_Mutation_p.R705L|CADPS_ENST00000283269.9_Missense_Mutation_p.R722L	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	722					catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)	p.R722L(2)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		GTGACACCCCCGGACTCCATT	0.493																																						uc003dll.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)|ovary(1)	3						c.(2164-2166)CGG>CTG		Ca2+-dependent secretion activator isoform 1							104.0	96.0	98.0					3																	62518672		2203	4300	6503	SO:0001583	missense	8618				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	g.chr3:62518672C>A	U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.2165G>T	3.37:g.62518672C>A	ENSP00000373215:p.Arg722Leu					CADPS_uc003dlk.1_Missense_Mutation_p.R226L|CADPS_uc003dlm.2_Missense_Mutation_p.R722L|CADPS_uc003dln.2_Missense_Mutation_p.R705L	p.R722L	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)	13	2525	-		Lung SC(41;0.0452)	722					A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	ENST00000383710.4	37	c.2165G>T	CCDS46858.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.605081|5.605081	0.96626|0.96626	.|.	.|.	ENSG00000163618|ENSG00000163618	ENST00000468271;ENST00000478434|ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269	.|T;T;T	.|0.33438	.|1.41;1.41;1.41	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.61211|0.61211	0.2329|0.2329	M|M	0.80422|0.80422	2.495|2.495	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;0.992;0.997;1.0	.|D;D;D;D	.|0.77557	.|0.972;0.979;0.987;0.99	T|T	0.64123|0.64123	-0.6481|-0.6481	5|10	.|0.87932	.|D	.|0	.|.	19.9894|19.9894	0.97361|0.97361	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|705;722;722;722	.|Q9ULU8-2;Q9ULU8-3;Q9ULU8;Q9ULU8-4	.|.;.;CAPS1_HUMAN;.	W|L	67;153|722;722;705;722	.|ENSP00000373215:R722L;ENSP00000350632:R705L;ENSP00000283269:R722L	.|ENSP00000283269:R722L	G|R	-|-	1|2	0|0	CADPS|CADPS	62493712|62493712	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.925000|0.925000	0.55904|0.55904	7.818000|7.818000	0.86416|0.86416	2.728000|2.728000	0.93425|0.93425	0.557000|0.557000	0.71058|0.71058	GGG|CGG		PASS	0.493	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394		47	151	47	151	---	---	---	---
SHQ1	55164	broad.mit.edu	37	3	72891517	72891517	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr3:72891517C>T	ENST00000325599.8	-	3	384	c.245G>A	c.(244-246)gGc>gAc	p.G82D	SHQ1_ENST00000463369.1_Missense_Mutation_p.G54D	NM_018130.2	NP_060600.2	Q6PI26	SHQ1_HUMAN	SHQ1, H/ACA ribonucleoprotein assembly factor	82	CS. {ECO:0000255|PROSITE- ProRule:PRU00547}.				negative regulation of rRNA processing (GO:2000233)|positive regulation of apoptotic process (GO:0043065)|ribonucleoprotein complex assembly (GO:0022618)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.G82D(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)		AAAATGCTGGCCAGGGGTTTC	0.378																																						uc003dpf.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(244-246)GGC>GAC		SHQ1 homolog							84.0	83.0	83.0					3																	72891517		2203	4300	6503	SO:0001583	missense	55164				ribonucleoprotein complex assembly	cytosol|nucleoplasm	protein binding	g.chr3:72891517C>T	BC025270	CCDS33788.1	3p13	2013-01-08	2013-01-08		ENSG00000144736	ENSG00000144736			25543	protein-coding gene	gene with protein product		613663	"""SHQ1 homolog (S. cerevisiae)"""			12477932	Standard	NM_018130		Approved	FLJ10539, Shq1p	uc003dpf.3	Q6PI26	OTTHUMG00000158814	ENST00000325599.8:c.245G>A	3.37:g.72891517C>T	ENSP00000315182:p.Gly82Asp					SHQ1_uc010hod.2_5'UTR	p.G82D	NM_018130	NP_060600	Q6PI26	SHQ1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)	3	352	-		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)	82			CS.		B4DL05|Q6MZJ4|Q7Z748|Q9H7E5|Q9NVS8	Missense_Mutation	SNP	ENST00000325599.8	37	c.245G>A	CCDS33788.1	.	.	.	.	.	.	.	.	.	.	C	34	5.360425	0.95877	.	.	ENSG00000144736	ENST00000325599;ENST00000463369	T;T	0.59502	1.47;0.26	5.96	5.04	0.67666	CS-like domain (1);HSP20-like chaperone (1);	0.053178	0.85682	D	0.000000	T	0.79476	0.4452	M	0.88105	2.93	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82176	-0.0587	10	0.59425	D	0.04	-19.5047	15.6021	0.76634	0.0:0.8619:0.1381:0.0	.	82	Q6PI26	SHQ1_HUMAN	D	82;54	ENSP00000315182:G82D;ENSP00000417452:G54D	ENSP00000315182:G82D	G	-	2	0	SHQ1	72974207	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	5.207000	0.65197	2.833000	0.97629	0.591000	0.81541	GGC		PASS	0.378	SHQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352310.1	NM_018130		40	90	40	90	---	---	---	---
PDZRN3	23024	broad.mit.edu	37	3	73433433	73433433	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr3:73433433C>A	ENST00000263666.4	-	10	2398	c.2284G>T	c.(2284-2286)Gag>Tag	p.E762*	PDZRN3_ENST00000479530.1_Nonsense_Mutation_p.E479*|PDZRN3_ENST00000466780.1_Nonsense_Mutation_p.E419*|PDZRN3_ENST00000466348.1_5'Flank|PDZRN3_ENST00000462146.2_Nonsense_Mutation_p.E419*|PDZRN3_ENST00000535920.1_Nonsense_Mutation_p.E484*	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	762					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E762*(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CGGCAGCTCTCGCCTGTGTTG	0.632																																						uc003dpl.1																			1	Substitution - Nonsense(1)		lung(1)	pancreas(2)|ovary(2)|skin(2)|large_intestine(1)	7						c.(2284-2286)GAG>TAG		PDZ domain containing ring finger 3							27.0	29.0	28.0					3																	73433433		2202	4300	6502	SO:0001587	stop_gained	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73433433C>A	AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"""RING-type (C3HC4) zinc fingers"""	17704	protein-coding gene	gene with protein product	"""likely ortholog of mouse semaF cytoplasmic domain associated protein 3"""	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.2284G>T	3.37:g.73433433C>A	ENSP00000263666:p.Glu762*					PDZRN3_uc011bgh.1_Nonsense_Mutation_p.E419*|PDZRN3_uc010hoe.1_Nonsense_Mutation_p.E460*|PDZRN3_uc011bgf.1_Nonsense_Mutation_p.E479*|PDZRN3_uc011bgg.1_Nonsense_Mutation_p.E482*	p.E762*	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)	10	2380	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	762					A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Nonsense_Mutation	SNP	ENST00000263666.4	37	c.2284G>T	CCDS33789.1	.	.	.	.	.	.	.	.	.	.	C	39	7.335740	0.98221	.	.	ENSG00000121440	ENST00000263666;ENST00000535920;ENST00000462146;ENST00000466780;ENST00000479530;ENST00000492909	.	.	.	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	17.9405	0.89025	0.0:1.0:0.0:0.0	.	.	.	.	X	762;484;419;419;479;460	.	ENSP00000263666:E762X	E	-	1	0	PDZRN3	73516123	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	7.451000	0.80668	2.322000	0.78497	0.591000	0.81541	GAG		PASS	0.632	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363		13	39	13	39	---	---	---	---
VGLL3	389136	broad.mit.edu	37	3	87027889	87027889	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr3:87027889C>G	ENST00000398399.2	-	2	553	c.190G>C	c.(190-192)Gag>Cag	p.E64Q	VGLL3_ENST00000383698.3_Missense_Mutation_p.E64Q	NM_016206.2	NP_057290.2			vestigial-like family member 3									p.E64Q(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		tcctcctcctcTTGTTTGCTG	0.488																																						uc003dqn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(190-192)GAG>CAG		colon carcinoma related protein							54.0	54.0	54.0					3																	87027889		2059	4218	6277	SO:0001583	missense	389136				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr3:87027889C>G	AF099505	CCDS43110.1	3p12.1	2014-03-03	2014-03-03		ENSG00000206538	ENSG00000206538			24327	protein-coding gene	gene with protein product		609980	"""vestigial like 3 (Drosophila)"""			12376544	Standard	NM_016206		Approved	VGL-3	uc003dqn.3	A8MV65	OTTHUMG00000158984	ENST00000398399.2:c.190G>C	3.37:g.87027889C>G	ENSP00000381436:p.Glu64Gln						p.E64Q	NM_016206	NP_057290	A8MV65	VGLL3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)	2	554	-	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)	64						Missense_Mutation	SNP	ENST00000398399.2	37	c.190G>C	CCDS43110.1	.	.	.	.	.	.	.	.	.	.	C	12.93	2.086719	0.36855	.	.	ENSG00000206538	ENST00000398399;ENST00000383698	T;T	0.45668	0.92;0.89	5.14	5.14	0.70334	.	1.024520	0.07763	N	0.950394	T	0.50752	0.1634	N	0.19112	0.55	0.37963	D	0.933036	D	0.71674	0.998	D	0.63381	0.914	T	0.46400	-0.9194	10	0.19147	T	0.46	-9.2165	18.6123	0.91290	0.0:1.0:0.0:0.0	.	64	A8MV65	VGLL3_HUMAN	Q	64	ENSP00000381436:E64Q;ENSP00000373199:E64Q	ENSP00000373199:E64Q	E	-	1	0	VGLL3	87110579	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.231000	0.65327	2.391000	0.81399	0.655000	0.94253	GAG		PASS	0.488	VGLL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352805.1	NM_016206		29	67	29	67	---	---	---	---
KIAA1407	57577	broad.mit.edu	37	3	113737550	113737550	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr3:113737550C>G	ENST00000295878.3	-	8	1284	c.1138G>C	c.(1138-1140)Gaa>Caa	p.E380Q	KIAA1407_ENST00000545063.1_Missense_Mutation_p.E211Q	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	380								p.E380Q(1)		endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						AGATCATTTTCCAAGGCTTGA	0.433																																						uc003eax.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1138-1140)GAA>CAA		hypothetical protein LOC57577							155.0	169.0	164.0					3																	113737550		2203	4300	6503	SO:0001583	missense	57577							g.chr3:113737550C>G	AF509494	CCDS2977.1	3q13.31	2005-01-10			ENSG00000163617	ENSG00000163617			29272	protein-coding gene	gene with protein product						10718198	Standard	NM_020817		Approved		uc003eax.3	Q8NCU4	OTTHUMG00000159337	ENST00000295878.3:c.1138G>C	3.37:g.113737550C>G	ENSP00000295878:p.Glu380Gln					KIAA1407_uc011bin.1_RNA|KIAA1407_uc011bio.1_Missense_Mutation_p.E358Q|KIAA1407_uc011bip.1_Missense_Mutation_p.E367Q	p.E380Q	NM_020817	NP_065868	Q8NCU4	K1407_HUMAN			8	1285	-			380			Potential.		B4DYL1|Q9P2E0	Missense_Mutation	SNP	ENST00000295878.3	37	c.1138G>C	CCDS2977.1	.	.	.	.	.	.	.	.	.	.	C	17.07	3.294555	0.60086	.	.	ENSG00000163617	ENST00000295878;ENST00000545063;ENST00000491000	T;T;T	0.56941	1.26;0.45;0.43	5.76	5.76	0.90799	.	0.101064	0.64402	D	0.000003	T	0.62853	0.2462	L	0.29908	0.895	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.55256	-0.8169	10	0.22109	T	0.4	.	19.9596	0.97236	0.0:1.0:0.0:0.0	.	367;256;380	C9JA89;B4DIZ9;Q8NCU4	.;.;K1407_HUMAN	Q	380;211;367	ENSP00000295878:E380Q;ENSP00000446381:E211Q;ENSP00000418099:E367Q	ENSP00000295878:E380Q	E	-	1	0	KIAA1407	115220240	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.747000	0.47475	2.726000	0.93360	0.655000	0.94253	GAA		PASS	0.433	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354724.2	NM_020817		130	320	130	320	---	---	---	---
HCLS1	3059	broad.mit.edu	37	3	121356041	121356041	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr3:121356041G>C	ENST00000314583.3	-	7	608	c.517C>G	c.(517-519)Ctg>Gtg	p.L173V	HCLS1_ENST00000473883.1_5'UTR|HCLS1_ENST00000428394.2_Intron	NM_005335.4	NP_005326	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	173					actin filament polymerization (GO:0030041)|cellular response to cytokine stimulus (GO:0071345)|erythrocyte differentiation (GO:0030218)|intracellular signal transduction (GO:0035556)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell proliferation (GO:0008284)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|regulation of actin filament polymerization (GO:0030833)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	protein kinase binding (GO:0019901)|RNA polymerase II transcription factor binding (GO:0001085)	p.L173V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		TCATATCCCAGAGCTGCTTTG	0.547																																						uc003eeh.3																			1	Substitution - Missense(1)		lung(1)		0						c.(517-519)CTG>GTG		hematopoietic cell-specific Lyn substrate 1							190.0	162.0	172.0					3																	121356041		2203	4300	6503	SO:0001583	missense	3059				erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:121356041G>C		CCDS3003.1	3q13	2007-08-03			ENSG00000180353	ENSG00000180353			4844	protein-coding gene	gene with protein product	"""cortactin-like"""	601306				8978766, 15710041	Standard	NM_001292041		Approved	HS1, CTTNL	uc003eeh.4	P14317	OTTHUMG00000159409	ENST00000314583.3:c.517C>G	3.37:g.121356041G>C	ENSP00000320176:p.Leu173Val					HCLS1_uc011bjj.1_Intron|HCLS1_uc011bjk.1_RNA	p.L173V	NM_005335	NP_005326	P14317	HCLS1_HUMAN		GBM - Glioblastoma multiforme(114;0.0912)	7	642	-			173			Cortactin 3.		B4DQ69|Q53Y93|Q6IBK9|Q9UDK0	Missense_Mutation	SNP	ENST00000314583.3	37	c.517C>G	CCDS3003.1	.	.	.	.	.	.	.	.	.	.	G	1.636	-0.517751	0.04171	.	.	ENSG00000180353	ENST00000314583	T	0.16743	2.32	5.15	2.26	0.28386	.	0.715535	0.13479	N	0.384858	T	0.04861	0.0131	N	0.02129	-0.67	0.58432	D	0.999995	B	0.19200	0.034	B	0.24974	0.057	T	0.34453	-0.9828	10	0.02654	T	1	-5.4526	4.7664	0.13134	0.0931:0.1825:0.5925:0.1319	.	173	P14317	HCLS1_HUMAN	V	173	ENSP00000320176:L173V	ENSP00000320176:L173V	L	-	1	2	HCLS1	122838731	0.001000	0.12720	0.991000	0.47740	0.984000	0.73092	-0.278000	0.08490	0.563000	0.29222	-0.136000	0.14681	CTG		PASS	0.547	HCLS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355144.1	NM_005335		60	161	60	161	---	---	---	---
P2RY1	5028	broad.mit.edu	37	3	152553885	152553885	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr3:152553885C>T	ENST00000305097.3	+	1	1150	c.314C>T	c.(313-315)cCa>cTa	p.P105L		NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	purinergic receptor P2Y, G-protein coupled, 1	105					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|aging (GO:0007568)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cell surface receptor signaling pathway (GO:0007166)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of binding (GO:0051100)|negative regulation of norepinephrine secretion (GO:0010700)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of hormone secretion (GO:0046887)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of ion transport (GO:0043270)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to plasma membrane (GO:0072659)|regulation of receptor activity (GO:0010469)|regulation of vasodilation (GO:0042312)|relaxation of muscle (GO:0090075)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|sensory perception of pain (GO:0019233)|signal transduction involved in regulation of gene expression (GO:0023019)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ADP binding (GO:0043531)|ADP-activated nucleotide receptor activity (GO:0045032)|ATP binding (GO:0005524)|ATP-activated nucleotide receptor activity (GO:0045031)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)|scaffold protein binding (GO:0097110)	p.P105L(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			CTGACTCTGCCAGCCCTGATC	0.498																																						uc003ezq.2																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(313-315)CCA>CTA		purinergic receptor P2Y1							85.0	79.0	81.0					3																	152553885		2203	4300	6503	SO:0001583	missense	5028				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:152553885C>T	U42029	CCDS3169.1	3q25.2	2012-08-08			ENSG00000169860	ENSG00000169860		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8539	protein-coding gene	gene with protein product		601167				8579591	Standard	NM_002563		Approved	P2Y1	uc003ezq.3	P47900	OTTHUMG00000159694	ENST00000305097.3:c.314C>T	3.37:g.152553885C>T	ENSP00000304767:p.Pro105Leu						p.P105L	NM_002563	NP_002554	P47900	P2RY1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)		1	1150	+			105			Helical; Name=2; (Potential).			Missense_Mutation	SNP	ENST00000305097.3	37	c.314C>T	CCDS3169.1	.	.	.	.	.	.	.	.	.	.	C	32	5.138836	0.94560	.	.	ENSG00000169860	ENST00000305097	T	0.72051	-0.62	5.67	5.67	0.87782	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.89427	0.6712	H	0.95260	3.645	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92111	0.5696	10	0.87932	D	0	.	18.758	0.91839	0.0:1.0:0.0:0.0	.	105	P47900	P2RY1_HUMAN	L	105	ENSP00000304767:P105L	ENSP00000304767:P105L	P	+	2	0	P2RY1	154036575	1.000000	0.71417	0.990000	0.47175	0.991000	0.79684	7.711000	0.84669	2.659000	0.90383	0.655000	0.94253	CCA		PASS	0.498	P2RY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356943.1	NM_002563		60	120	60	120	---	---	---	---
PLCH1	23007	broad.mit.edu	37	3	155200013	155200013	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr3:155200013C>T	ENST00000340059.7	-	23	3825	c.3826G>A	c.(3826-3828)Gaa>Aaa	p.E1276K	PLCH1_ENST00000414191.1_Missense_Mutation_p.E1238K|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000460012.1_Missense_Mutation_p.E1238K|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000334686.6_Missense_Mutation_p.E1238K	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1276					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.E1276K(1)|p.E1238K(1)		NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CAGGTAGTTTCATAAACTGTG	0.478																																						uc011bok.1																			2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(1)	4						c.(3826-3828)GAA>AAA		phospholipase C eta 1 isoform a							182.0	182.0	182.0					3																	155200013		2203	4300	6503	SO:0001583	missense	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155200013C>T	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.3826G>A	3.37:g.155200013C>T	ENSP00000345988:p.Glu1276Lys					PLCH1_uc011boj.1_3'UTR|PLCH1_uc011bol.1_Missense_Mutation_p.E1238K	p.E1276K	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		23	4103	-			1276					Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	ENST00000340059.7	37	c.3826G>A	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	C	13.48	2.249880	0.39797	.	.	ENSG00000114805	ENST00000460012;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T	0.24723	1.84;1.85;1.84;1.84	5.4	2.54	0.30619	.	6.722630	0.00166	N	0.000000	T	0.23171	0.0560	N	0.24115	0.695	0.09310	N	1	B;B	0.10296	0.003;0.002	B;B	0.11329	0.006;0.003	T	0.33701	-0.9858	10	0.52906	T	0.07	.	10.6962	0.45901	0.0:0.6855:0.2467:0.0677	.	1238;1276	Q4KWH8-2;Q4KWH8	.;PLCH1_HUMAN	K	1238;1276;1238;1238	ENSP00000417502:E1238K;ENSP00000345988:E1276K;ENSP00000335469:E1238K;ENSP00000412977:E1238K	ENSP00000335469:E1238K	E	-	1	0	PLCH1	156682707	0.023000	0.18921	0.000000	0.03702	0.034000	0.12701	1.392000	0.34486	0.223000	0.20920	0.460000	0.39030	GAA		PASS	0.478	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		100	238	100	238	---	---	---	---
KLHL6	89857	broad.mit.edu	37	3	183226065	183226065	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr3:183226065C>T	ENST00000341319.3	-	3	726	c.691G>A	c.(691-693)Gag>Aag	p.E231K		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	231	BACK.				B cell receptor signaling pathway (GO:0050853)|germinal center formation (GO:0002467)			p.E231K(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			TGagcctcctcggtcacgtaa	0.522																																						uc003flr.2																			1	Substitution - Missense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(2)|ovary(1)	3						c.(691-693)GAG>AAG		kelch-like 6							121.0	101.0	108.0					3																	183226065		2203	4300	6503	SO:0001583	missense	89857							g.chr3:183226065C>T	AF441792	CCDS3245.2	3q27.3	2013-01-30	2013-01-30		ENSG00000172578	ENSG00000172578		"""Kelch-like"", ""BTB/POZ domain containing"""	18653	protein-coding gene	gene with protein product	"""kelch-like protein KLHL6"""	614214	"""kelch-like 6 (Drosophila)"""			11214971, 12617994	Standard	NM_130446		Approved	FLJ00029	uc003flr.3	Q8WZ60	OTTHUMG00000148673	ENST00000341319.3:c.691G>A	3.37:g.183226065C>T	ENSP00000341342:p.Glu231Lys					KLHL6_uc003fls.1_RNA|KLHL6_uc003flt.1_Missense_Mutation_p.E229K	p.E231K	NM_130446	NP_569713	Q8WZ60	KLHL6_HUMAN	all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)		3	749	-	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		231			BACK.		B2RB31|D3DNS8|Q8N5I1|Q8N892	Missense_Mutation	SNP	ENST00000341319.3	37	c.691G>A	CCDS3245.2	.	.	.	.	.	.	.	.	.	.	C	11.68	1.709947	0.30322	.	.	ENSG00000172578	ENST00000341319	T	0.68181	-0.31	5.87	5.87	0.94306	BTB/Kelch-associated (2);	0.161351	0.64402	D	0.000018	T	0.58148	0.2102	L	0.39397	1.21	0.53688	D	0.999974	B	0.28128	0.201	B	0.20955	0.032	T	0.54132	-0.8339	10	0.11794	T	0.64	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	231	Q8WZ60	KLHL6_HUMAN	K	231	ENSP00000341342:E231K	ENSP00000341342:E231K	E	-	1	0	KLHL6	184708759	0.999000	0.42202	0.774000	0.31636	0.976000	0.68499	4.406000	0.59748	2.941000	0.99782	0.655000	0.94253	GAG		PASS	0.522	KLHL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309024.1	NM_130446		30	937	30	937	---	---	---	---
MASP1	5648	broad.mit.edu	37	3	186943271	186943271	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr3:186943271C>T	ENST00000337774.5	-	13	1971	c.1582G>A	c.(1582-1584)Gaa>Aaa	p.E528K		NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	528	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|negative regulation of complement activation (GO:0045916)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)	p.E528K(1)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		TGTTCATTTTCATCTGACCGG	0.542																																						uc003frh.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|liver(1)	4						c.(1582-1584)GAA>AAA		mannan-binding lectin serine protease 1 isoform							210.0	197.0	202.0					3																	186943271		2203	4300	6503	SO:0001583	missense	5648				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity	g.chr3:186943271C>T	D28593	CCDS33907.1, CCDS33908.1, CCDS33909.1	3q27-q28	2014-09-17	2005-08-17		ENSG00000127241	ENSG00000127241		"""Serine peptidases / Serine peptidases"""	6901	protein-coding gene	gene with protein product		600521	"""mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)"""	CRARF, PRSS5		8018603, 8240317	Standard	NR_033519		Approved	MASP	uc003fri.3	P48740	OTTHUMG00000156461	ENST00000337774.5:c.1582G>A	3.37:g.186943271C>T	ENSP00000336792:p.Glu528Lys						p.E528K	NM_001879	NP_001870	P48740	MASP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)	13	1914	-	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		528			Peptidase S1.		A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Missense_Mutation	SNP	ENST00000337774.5	37	c.1582G>A	CCDS33907.1	.	.	.	.	.	.	.	.	.	.	C	7.585	0.669625	0.14776	.	.	ENSG00000127241	ENST00000337774	D	0.88741	-2.42	6.04	4.28	0.50868	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	T	0.80665	0.4666	L	0.38953	1.18	0.80722	D	1	B	0.14438	0.01	B	0.11329	0.006	T	0.69602	-0.5101	9	0.06236	T	0.91	.	10.813	0.46557	0.0:0.8487:0.0:0.1513	.	528	P48740	MASP1_HUMAN	K	528	ENSP00000336792:E528K	ENSP00000336792:E528K	E	-	1	0	MASP1	188425965	1.000000	0.71417	0.803000	0.32268	0.855000	0.48748	2.205000	0.42770	0.907000	0.36646	-0.251000	0.11542	GAA		PASS	0.542	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344262.1	NM_001879		62	700	62	700	---	---	---	---
NRROS	375387	broad.mit.edu	37	3	196386691	196386691	+	Silent	SNP	C	C	A			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr3:196386691C>A	ENST00000328557.4	+	3	380	c.177C>A	c.(175-177)gcC>gcA	p.A59A		NM_198565.1	NP_940967.1	Q86YC3	NRROS_HUMAN	negative regulator of reactive oxygen species	59					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A59A(1)									CGCCCCACGCCCGGATGCTCA	0.672																																						uc003fwv.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(175-177)GCC>GCA		leucine rich repeat containing 33 precursor							57.0	50.0	52.0					3																	196386691		2203	4300	6503	SO:0001819	synonymous_variant	375387					integral to membrane		g.chr3:196386691C>A	AY358322	CCDS3319.1	3q29	2013-07-02	2013-07-02	2013-07-02	ENSG00000174004	ENSG00000174004			24613	protein-coding gene	gene with protein product		615322	"""leucine rich repeat containing 33"""	LRRC33		12975309	Standard	NM_198565		Approved	UNQ3030, ELLP3030, MGC50789, GARPL1	uc003fwv.3	Q86YC3	OTTHUMG00000155569	ENST00000328557.4:c.177C>A	3.37:g.196386691C>A							p.A59A	NM_198565	NP_940967	Q86YC3	LRC33_HUMAN	Epithelial(36;1.9e-23)|all cancers(36;1.76e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)	3	281	+	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		59			Extracellular (Potential).|LRR 1.			Silent	SNP	ENST00000328557.4	37	c.177C>A	CCDS3319.1																																																																																				PASS	0.672	NRROS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340676.1	NM_198565		26	175	26	175	---	---	---	---
IQCG	84223	broad.mit.edu	37	3	197640812	197640812	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr3:197640812C>G	ENST00000265239.6	-	8	1252	c.828G>C	c.(826-828)caG>caC	p.Q276H	IQCG_ENST00000455191.1_Missense_Mutation_p.Q276H|IQCG_ENST00000453254.1_Missense_Mutation_p.Q276H	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G	276						extracellular vesicular exosome (GO:0070062)		p.Q276H(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		TCTGGGCAATCTGCAGCTCGG	0.458																																						uc003fyo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(826-828)CAG>CAC		IQ motif containing G							359.0	336.0	344.0					3																	197640812		2203	4300	6503	SO:0001583	missense	84223							g.chr3:197640812C>G	AL136889	CCDS3331.1	3q29	2014-07-18			ENSG00000114473	ENSG00000114473			25251	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 9"""	612477				11230166, 23427265, 24362311	Standard	NM_032263		Approved	DKFZp434B227, DRC9, CFAP122	uc003fyo.3	Q9H095	OTTHUMG00000155408	ENST00000265239.6:c.828G>C	3.37:g.197640812C>G	ENSP00000265239:p.Gln276His					IQCG_uc003fyn.2_Missense_Mutation_p.Q178H|IQCG_uc003fyp.2_Missense_Mutation_p.Q276H|IQCG_uc003fyq.3_Missense_Mutation_p.Q276H|IQCG_uc003fym.2_5'Flank	p.Q276H	NM_001134435	NP_001127907	Q9H095	IQCG_HUMAN	Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)	7	974	-	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		276					Q9BST2|Q9HAG8	Missense_Mutation	SNP	ENST00000265239.6	37	c.828G>C	CCDS3331.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.032769	0.75504	.	.	ENSG00000114473	ENST00000265239;ENST00000455191;ENST00000453254	T;T;T	0.51817	0.69;0.69;0.83	6.12	5.25	0.73442	.	0.076976	0.56097	D	0.000037	T	0.66587	0.2804	M	0.66939	2.045	0.34640	D	0.720574	D;P	0.89917	1.0;0.938	D;B	0.91635	0.999;0.391	T	0.76903	-0.2787	10	0.51188	T	0.08	-21.8882	14.6676	0.68921	0.0:0.9295:0.0:0.0705	.	276;276	C9JKX8;Q9H095	.;IQCG_HUMAN	H	276	ENSP00000265239:Q276H;ENSP00000407736:Q276H;ENSP00000389897:Q276H	ENSP00000265239:Q276H	Q	-	3	2	IQCG	199125209	1.000000	0.71417	0.980000	0.43619	0.985000	0.73830	3.678000	0.54627	1.615000	0.50252	0.638000	0.83543	CAG		PASS	0.458	IQCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339730.1	NM_032263		81	652	81	652	---	---	---	---
CEP135	9662	broad.mit.edu	37	4	56830468	56830468	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr4:56830468G>T	ENST00000257287.4	+	7	852	c.728G>T	c.(727-729)cGa>cTa	p.R243L		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	243					centriole replication (GO:0007099)|centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)	protein C-terminus binding (GO:0008022)	p.R243L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					GAGATAGAACGACTGTCAGTT	0.363																																						uc003hbi.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(727-729)CGA>CTA		centrosome protein 4							152.0	150.0	151.0					4																	56830468		2203	4300	6503	SO:0001583	missense	9662				centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding	g.chr4:56830468G>T	AB014535	CCDS33986.1	4q12	2014-02-20	2005-12-02	2005-12-02	ENSG00000174799	ENSG00000174799			29086	protein-coding gene	gene with protein product		611423	"""KIAA0635"", ""centrosomal protein 4"""	KIAA0635, CEP4		9734811, 14654843	Standard	NM_025009		Approved	FLJ13621	uc003hbi.4	Q66GS9	OTTHUMG00000160748	ENST00000257287.4:c.728G>T	4.37:g.56830468G>T	ENSP00000257287:p.Arg243Leu					CEP135_uc003hbj.2_5'Flank|CEP135_uc010igz.1_Missense_Mutation_p.R73L	p.R243L	NM_025009	NP_079285	Q66GS9	CP135_HUMAN			7	962	+	Glioma(25;0.08)|all_neural(26;0.101)		243			Potential.		B2RMY0|O75130|Q58F25|Q9H8H7	Missense_Mutation	SNP	ENST00000257287.4	37	c.728G>T	CCDS33986.1	.	.	.	.	.	.	.	.	.	.	G	33	5.250223	0.95305	.	.	ENSG00000174799	ENST00000257287	T	0.80033	-1.33	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	D	0.90123	0.6914	M	0.81802	2.56	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88407	0.3019	10	0.33940	T	0.23	.	19.4637	0.94929	0.0:0.0:1.0:0.0	.	243	Q66GS9	CP135_HUMAN	L	243	ENSP00000257287:R243L	ENSP00000257287:R243L	R	+	2	0	CEP135	56525225	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	8.648000	0.91062	2.675000	0.91044	0.655000	0.94253	CGA		PASS	0.363	CEP135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362092.2	NM_025009		28	78	28	78	---	---	---	---
UTP3	57050	broad.mit.edu	37	4	71554761	71554761	+	Missense_Mutation	SNP	G	G	A	rs139549167		TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr4:71554761G>A	ENST00000254803.2	+	1	566	c.367G>A	c.(367-369)Gtg>Atg	p.V123M		NM_020368.2	NP_065101.1	Q9NQZ2	SAS10_HUMAN	UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae)	123	Glu-rich.				brain development (GO:0007420)|chromatin modification (GO:0016568)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.V123M(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4)	18			Lung(101;0.235)			TGAGGCCTCTGTGGATCCCAG	0.562																																						uc003hfo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(367-369)GTG>ATG		UTP3, small subunit processome component							76.0	72.0	73.0					4																	71554761		2203	4300	6503	SO:0001583	missense	57050				brain development|chromatin modification|gene silencing	nucleolus		g.chr4:71554761G>A	AL136590	CCDS3546.1	4q13.3	2008-02-05			ENSG00000132467	ENSG00000132467			24477	protein-coding gene	gene with protein product	"""disrupter of silencing 10"""	611614				12477932	Standard	NM_020368		Approved	FLJ23256, DKFZp761F222, SAS10, CRLZ1	uc003hfo.3	Q9NQZ2	OTTHUMG00000129911	ENST00000254803.2:c.367G>A	4.37:g.71554761G>A	ENSP00000254803:p.Val123Met						p.V123M	NM_020368	NP_065101	Q9NQZ2	SAS10_HUMAN	Lung(101;0.235)		1	566	+			123			Glu-rich.		Q6FI82	Missense_Mutation	SNP	ENST00000254803.2	37	c.367G>A	CCDS3546.1	.	.	.	.	.	.	.	.	.	.	g	7.175	0.588414	0.13812	.	.	ENSG00000132467	ENST00000254803	T	0.29917	1.55	5.34	3.59	0.41128	.	0.560078	0.18387	N	0.142789	T	0.25005	0.0607	L	0.44542	1.39	0.09310	N	1	B	0.33448	0.412	B	0.31614	0.133	T	0.11155	-1.0599	10	0.49607	T	0.09	-13.1546	9.568	0.39411	0.073:0.2672:0.6598:0.0	.	123	Q9NQZ2	SAS10_HUMAN	M	123	ENSP00000254803:V123M	ENSP00000254803:V123M	V	+	1	0	UTP3	71773625	0.049000	0.20398	0.898000	0.35279	0.380000	0.30137	1.502000	0.35704	0.601000	0.29879	-0.177000	0.13119	GTG		PASS	0.562	UTP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252163.2	NM_020368		32	77	32	77	---	---	---	---
NAA11	84779	broad.mit.edu	37	4	80247029	80247029	+	Start_Codon_SNP	SNP	C	C	G			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr4:80247029C>G	ENST00000286794.4	-	1	175	c.3G>C	c.(1-3)atG>atC	p.M1I	NAA11_ENST00000513733.1_5'Flank	NM_032693.2	NP_116082.1	Q9BSU3	NAA11_HUMAN	N(alpha)-acetyltransferase 11, NatA catalytic subunit	1	Interaction with NAA15. {ECO:0000250}.|N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				N-terminal protein amino acid acetylation (GO:0006474)	NatA complex (GO:0031415)|nucleus (GO:0005634)	peptide alpha-N-acetyltransferase activity (GO:0004596)	p.M1I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2)	23						TGCGGATGTTCATAATGGCAG	0.507																																						uc003hlt.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1-3)ATG>ATC		alpha-N-acetyltransferase 1B							56.0	54.0	54.0					4																	80247029		2186	4293	6479	SO:0001582	initiator_codon_variant	84779					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding	g.chr4:80247029C>G		CCDS47084.1	4q21.23	2010-05-07	2010-01-14	2010-01-14		ENSG00000156269	2.3.1.88	"""N(alpha)-acetyltransferase subunits"""	28125	protein-coding gene	gene with protein product			"""ARD1 homolog B (S. cerevisiae)"""	ARD1B		16638120, 19660095	Standard	NM_032693		Approved	ARD2, hARD2	uc003hlt.4	Q9BSU3		ENST00000286794.4:c.3G>C	4.37:g.80247029C>G	ENSP00000286794:p.Met1Ile						p.M1I	NM_032693	NP_116082	Q9BSU3	NAA11_HUMAN			1	143	-			1			Interaction with NAA15 (By similarity).|N-acetyltransferase.		Q66K19|Q6P479	Missense_Mutation	SNP	ENST00000286794.4	37	c.3G>C	CCDS47084.1	.	.	.	.	.	.	.	.	.	.	C	8.063	0.768610	0.15983	.	.	ENSG00000156269	ENST00000286794	D	0.99956	-8.96	5.04	4.19	0.49359	GCN5-related N-acetyltransferase (GNAT) domain (1);Acyl-CoA N-acyltransferase (2);	0.000000	0.85682	U	0.000000	D	0.99768	0.9905	.	.	.	0.58432	D	0.999992	B	0.23650	0.089	B	0.26864	0.074	D	0.99995	1.5229	8	.	.	.	-20.6612	11.6166	0.51094	0.0:0.8208:0.1792:0.0	.	1	Q9BSU3	NAA11_HUMAN	I	1	ENSP00000286794:M1I	.	M	-	3	0	NAA11	80466053	1.000000	0.71417	1.000000	0.80357	0.036000	0.12997	1.179000	0.31993	1.482000	0.48325	-0.302000	0.09304	ATG		PASS	0.507	NAA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362922.1		Missense_Mutation	12	39	12	39	---	---	---	---
GK2	2712	broad.mit.edu	37	4	80328678	80328678	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr4:80328678G>A	ENST00000358842.3	-	1	694	c.677C>T	c.(676-678)cCa>cTa	p.P226L		NM_033214.2	NP_149991.2	Q01415	GALK2_HUMAN	glycerol kinase 2	413					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|galactokinase activity (GO:0004335)|N-acetylgalactosamine kinase activity (GO:0033858)	p.P226L(1)		autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						AAGGTCCATTGGAATTTCAAA	0.413																																						uc003hlu.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(676-678)CCA>CTA		glycerol kinase 2							66.0	70.0	68.0					4																	80328678		2203	4300	6503	SO:0001583	missense	2712				glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity	g.chr4:80328678G>A	BC029820	CCDS3585.1	4q13	2008-02-05	2002-10-03	2002-10-04	ENSG00000196475	ENSG00000196475		"""Glycerol kinases"""	4291	protein-coding gene	gene with protein product		600148	"""glycerol kinase pseudogene 2"""	GKP2		7987308	Standard	NM_033214		Approved	GKTA	uc003hlu.3	Q14410	OTTHUMG00000130199	ENST00000358842.3:c.677C>T	4.37:g.80328678G>A	ENSP00000351706:p.Pro226Leu						p.P226L	NM_033214	NP_149991	Q14410	GLPK2_HUMAN			1	695	-			226					Q7Z4Q4	Missense_Mutation	SNP	ENST00000358842.3	37	c.677C>T	CCDS3585.1	.	.	.	.	.	.	.	.	.	.	G	10.91	1.484173	0.26598	.	.	ENSG00000196475	ENST00000358842	T	0.62364	0.03	3.92	3.92	0.45320	Carbohydrate kinase, FGGY, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.83399	0.5246	H	0.95437	3.67	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87171	0.2221	10	0.87932	D	0	-6.4082	11.7305	0.51735	0.0:0.0:1.0:0.0	.	226	Q14410	GLPK2_HUMAN	L	226	ENSP00000351706:P226L	ENSP00000351706:P226L	P	-	2	0	GK2	80547702	1.000000	0.71417	0.906000	0.35671	0.181000	0.23173	3.916000	0.56416	2.496000	0.84212	0.585000	0.79938	CCA		PASS	0.413	GK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252517.2	NM_033214		64	142	64	142	---	---	---	---
ADAD1	132612	broad.mit.edu	37	4	123350789	123350789	+	Silent	SNP	T	T	A			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr4:123350789T>A	ENST00000296513.2	+	13	1811	c.1626T>A	c.(1624-1626)tcT>tcA	p.S542S	ADAD1_ENST00000388724.2_Silent_p.S531S|ADAD1_ENST00000388725.2_Silent_p.S524S	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	542	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				multicellular organismal development (GO:0007275)|RNA processing (GO:0006396)|spermatid development (GO:0007286)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)	p.S542S(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						AGTGTATGTCTGCCTCCTATC	0.348																																						uc003ieo.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1624-1626)TCT>TCA		adenosine deaminase domain containing 1							86.0	82.0	83.0					4																	123350789		2203	4299	6502	SO:0001819	synonymous_variant	132612				multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding	g.chr4:123350789T>A	AK057303	CCDS34058.1, CCDS54800.1, CCDS54801.1	4q27	2007-05-31			ENSG00000164113	ENSG00000164113			30713	protein-coding gene	gene with protein product		614130				7543294, 9541871	Standard	NM_139243		Approved	Tenr	uc003iep.3	Q96M93	OTTHUMG00000150128	ENST00000296513.2:c.1626T>A	4.37:g.123350789T>A						ADAD1_uc003iep.2_Silent_p.S531S|ADAD1_uc003ieq.2_Silent_p.S524S	p.S542S	NM_139243	NP_640336	Q96M93	ADAD1_HUMAN			13	1858	+			542			A to I editase.		A6NKN4|B7WPB0|D3DNX2|Q8IWG6|Q8NA06	Silent	SNP	ENST00000296513.2	37	c.1626T>A	CCDS34058.1																																																																																				PASS	0.348	ADAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316452.1	NM_139243		45	96	45	96	---	---	---	---
SLC25A31	83447	broad.mit.edu	37	4	128689967	128689967	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr4:128689967G>C	ENST00000281154.4	+	5	862	c.694G>C	c.(694-696)Gtg>Ctg	p.V232L		NM_031291.2	NP_112581.1	Q9H0C2	ADT4_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31	232					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|motile cilium (GO:0031514)|nucleus (GO:0005634)	transporter activity (GO:0005215)	p.V232L(1)		NS(1)|breast(1)|large_intestine(10)|lung(8)|skin(2)	22						TGCTCAAGTTGTGACTACATG	0.343																																						uc003ifl.2																			1	Substitution - Missense(1)		lung(1)		0						c.(694-696)GTG>CTG		solute carrier family 25 (mitochondrial carrier;							128.0	119.0	122.0					4																	128689967		2203	4298	6501	SO:0001583	missense	83447				transmembrane transport	cilium|flagellum|integral to membrane|mitochondrial inner membrane	binding|transporter activity	g.chr4:128689967G>C	AL136857	CCDS3733.1	4q28	2013-05-22			ENSG00000151475	ENSG00000151475		"""Solute carriers"""	25319	protein-coding gene	gene with protein product		610796				15670820	Standard	NM_031291		Approved	DKFZP434N1235, ANT4	uc003ifl.3	Q9H0C2	OTTHUMG00000133300	ENST00000281154.4:c.694G>C	4.37:g.128689967G>C	ENSP00000281154:p.Val232Leu						p.V232L	NM_031291	NP_112581	Q9H0C2	ADT4_HUMAN			5	840	+			232			Helical; Name=5; (Potential).|Solcar 3.			Missense_Mutation	SNP	ENST00000281154.4	37	c.694G>C	CCDS3733.1	.	.	.	.	.	.	.	.	.	.	G	15.95	2.984091	0.53827	.	.	ENSG00000151475	ENST00000281154	T	0.79033	-1.23	4.59	4.59	0.56863	Mitochondrial carrier domain (2);	0.000000	0.44688	D	0.000440	D	0.84611	0.5510	M	0.87900	2.915	0.53688	D	0.99997	P	0.40970	0.734	P	0.46237	0.508	D	0.88110	0.2825	10	0.87932	D	0	-11.3058	16.3199	0.82945	0.0:0.0:1.0:0.0	.	232	Q9H0C2	ADT4_HUMAN	L	232	ENSP00000281154:V232L	ENSP00000281154:V232L	V	+	1	0	SLC25A31	128909417	1.000000	0.71417	1.000000	0.80357	0.003000	0.03518	9.004000	0.93583	2.391000	0.81399	0.467000	0.42956	GTG		PASS	0.343	SLC25A31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257094.2	NM_031291		23	41	23	41	---	---	---	---
TLR3	7098	broad.mit.edu	37	4	187004154	187004154	+	Silent	SNP	G	G	T			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr4:187004154G>T	ENST00000296795.3	+	4	1418	c.1314G>T	c.(1312-1314)ctG>ctT	p.L438L	TLR3_ENST00000504367.1_Silent_p.L161L	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	438					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to drug (GO:0035690)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cellular response to interferon-gamma (GO:0071346)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|detection of virus (GO:0009597)|extrinsic apoptotic signaling pathway (GO:0097191)|hyperosmotic response (GO:0006972)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|microglial cell activation involved in immune response (GO:0002282)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic signaling pathway (GO:0097527)|negative regulation of osteoclast differentiation (GO:0045671)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type III interferon production (GO:0034346)|response to exogenous dsRNA (GO:0043330)|signal transduction (GO:0007165)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	double-stranded RNA binding (GO:0003725)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.L438L(1)		breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		TACTTGACCTGGGCCTTAATG	0.413																																						uc003iyq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|prostate(1)|lung(1)|breast(1)	5						c.(1312-1314)CTG>CTT		toll-like receptor 3 precursor							64.0	60.0	61.0					4																	187004154		2203	4300	6503	SO:0001819	synonymous_variant	7098				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity	g.chr4:187004154G>T	U88879	CCDS3846.1	4q35	2014-09-17				ENSG00000164342		"""CD molecules"""	11849	protein-coding gene	gene with protein product		603029				9435236	Standard	NM_003265		Approved	CD283	uc003iyq.3	O15455		ENST00000296795.3:c.1314G>T	4.37:g.187004154G>T						TLR3_uc011ckz.1_Silent_p.L161L|TLR3_uc003iyr.2_Silent_p.L161L	p.L438L	NM_003265	NP_003256	O15455	TLR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)	4	1415	+		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	438			LRR 16.|Lumenal (Potential).		B2RAI7|B7Z7K0|E6Y0F0|E6Y0F1|E9PGH4|Q4VAL2|Q504W0	Silent	SNP	ENST00000296795.3	37	c.1314G>T	CCDS3846.1																																																																																				PASS	0.413	TLR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360313.4			33	64	33	64	---	---	---	---
EXOC3	11336	broad.mit.edu	37	5	454073	454073	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr5:454073C>A	ENST00000512944.1	+	4	1142	c.953C>A	c.(952-954)gCc>gAc	p.A318D	EXOC3_ENST00000315013.5_Missense_Mutation_p.A318D	NM_007277.4	NP_009208.2	O60645	EXOC3_HUMAN	exocyst complex component 3	329					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|secretory granule membrane (GO:0030667)		p.A318D(1)		breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			TACCACCAAGCCCTGAGCACG	0.512																																						uc003jba.2																			1	Substitution - Missense(1)		lung(1)		0						c.(952-954)GCC>GAC		Sec6 protein							47.0	47.0	47.0					5																	454073		2067	4211	6278	SO:0001583	missense	11336				exocytosis|protein transport			g.chr5:454073C>A	BC034427	CCDS54830.1	5p15.33	2013-01-22	2005-11-01	2005-11-01	ENSG00000180104	ENSG00000180104			30378	protein-coding gene	gene with protein product		608186	"""SEC6-like 1 (S. cerevisiae)"""	SEC6L1		8619474	Standard	XM_005248238		Approved	Sec6p	uc003jba.3	O60645	OTTHUMG00000162205	ENST00000512944.1:c.953C>A	5.37:g.454073C>A	ENSP00000425587:p.Ala318Asp						p.A318D	NM_007277	NP_009208	O60645	EXOC3_HUMAN	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)		4	1081	+		Ovarian(839;0.0563)	329					Q6P2E8|Q8TEN6|Q8WUW0|Q96DI4	Missense_Mutation	SNP	ENST00000512944.1	37	c.953C>A	CCDS54830.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.341805	0.81911	.	.	ENSG00000180104	ENST00000512944;ENST00000315013;ENST00000340158	T;T	0.07216	3.21;3.21	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.27967	0.0689	M	0.76328	2.33	0.80722	D	1	D	0.63880	0.993	D	0.71184	0.972	T	0.01198	-1.1421	10	0.19590	T	0.45	-35.4377	17.553	0.87881	0.0:1.0:0.0:0.0	.	329	O60645	EXOC3_HUMAN	D	318;318;328	ENSP00000425587:A318D;ENSP00000323377:A318D	ENSP00000323377:A318D	A	+	2	0	EXOC3	507073	1.000000	0.71417	1.000000	0.80357	0.775000	0.43874	7.333000	0.79214	2.747000	0.94245	0.462000	0.41574	GCC		PASS	0.512	EXOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367882.1	NM_007277		5	78	5	78	---	---	---	---
CTNND2	1501	broad.mit.edu	37	5	11732354	11732354	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr5:11732354G>A	ENST00000304623.8	-	2	257	c.68C>T	c.(67-69)tCa>tTa	p.S23L	CTNND2_ENST00000359640.2_Missense_Mutation_p.S23L|CTNND2_ENST00000458100.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	23					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.S23L(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CTCTGAGGCTGATGAAGGCTG	0.507																																						uc003jfa.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						c.(67-69)TCA>TTA		catenin (cadherin-associated protein), delta 2							118.0	119.0	119.0					5																	11732354		2203	4300	6503	SO:0001583	missense	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11732354G>A	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.68C>T	5.37:g.11732354G>A	ENSP00000307134:p.Ser23Leu					CTNND2_uc011cmz.1_5'UTR|CTNND2_uc010itu.1_RNA	p.S23L	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN			2	213	-			23					B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	c.68C>T	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	G	11.28	1.592757	0.28357	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000502551;ENST00000508761	T;T	0.75477	-0.89;-0.94	5.8	5.8	0.92144	.	0.000000	0.36815	N	0.002386	T	0.67822	0.2934	N	0.08118	0	0.80722	D	1	D	0.54601	0.967	P	0.60789	0.879	T	0.64097	-0.6487	10	0.13470	T	0.59	-8.0657	13.1805	0.59651	0.0:0.16:0.84:0.0	.	23	Q9UQB3	CTND2_HUMAN	L	23;23;9;9	ENSP00000307134:S23L;ENSP00000352661:S23L	ENSP00000307134:S23L	S	-	2	0	CTNND2	11785354	1.000000	0.71417	0.902000	0.35471	0.954000	0.61252	2.509000	0.45459	2.739000	0.93911	0.643000	0.83706	TCA		PASS	0.507	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		32	174	32	174	---	---	---	---
NUP155	9631	broad.mit.edu	37	5	37299569	37299569	+	Nonsense_Mutation	SNP	C	C	T			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr5:37299569C>T	ENST00000231498.3	-	31	3866	c.3663G>A	c.(3661-3663)tgG>tgA	p.W1221*	NUP155_ENST00000502533.1_5'UTR|NUP155_ENST00000381843.2_Nonsense_Mutation_p.W1162*|NUP155_ENST00000513532.1_Nonsense_Mutation_p.W1157*	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	1221					atrial cardiac muscle cell action potential (GO:0086014)|carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear envelope organization (GO:0006998)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)	p.W1221*(1)		endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGATATCTTGCCAAAGTGTCT	0.383																																						uc003jku.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(3661-3663)TGG>TGA		nucleoporin 155kDa isoform 1							135.0	126.0	129.0					5																	37299569		2203	4300	6503	SO:0001587	stop_gained	9631				carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity	g.chr5:37299569C>T	AJ007558	CCDS3921.1, CCDS43310.1, CCDS64142.1	5p13.1	2008-02-05	2002-08-29		ENSG00000113569	ENSG00000113569			8063	protein-coding gene	gene with protein product		606694	"""nucleoporin 155kD"""			10191094	Standard	NM_153485		Approved	KIAA0791, N155	uc003jku.1	O75694	OTTHUMG00000090803	ENST00000231498.3:c.3663G>A	5.37:g.37299569C>T	ENSP00000231498:p.Trp1221*					NUP155_uc003jkt.1_Nonsense_Mutation_p.W1162*|NUP155_uc010iuz.1_Nonsense_Mutation_p.W1157*	p.W1221*	NM_153485	NP_705618	O75694	NU155_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		31	3781	-	all_lung(31;0.000137)		1221					Q9UBE9|Q9UFL5	Nonsense_Mutation	SNP	ENST00000231498.3	37	c.3663G>A	CCDS3921.1	.	.	.	.	.	.	.	.	.	.	C	43	10.104319	0.99337	.	.	ENSG00000113569	ENST00000231498;ENST00000381843;ENST00000434056;ENST00000513532	.	.	.	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.4777	0.99188	0.0:1.0:0.0:0.0	.	.	.	.	X	1221;1162;1183;1157	.	ENSP00000231498:W1221X	W	-	3	0	NUP155	37335326	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.435000	0.80391	2.840000	0.97914	0.655000	0.94253	TGG		PASS	0.383	NUP155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207593.2	NM_153485, NM_004298		88	137	88	137	---	---	---	---
TTC33	23548	broad.mit.edu	37	5	40716430	40716430	+	Silent	SNP	T	T	C			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr5:40716430T>C	ENST00000337702.4	-	5	758	c.606A>G	c.(604-606)ccA>ccG	p.P202P	TTC33_ENST00000503936.2_5'UTR	NM_012382.2	NP_036514.1	Q6PID6	TTC33_HUMAN	tetratricopeptide repeat domain 33	202								p.P202P(1)		NS(1)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|urinary_tract(1)	11						AGTCATAGTCTGGAATTGACT	0.413																																						uc003jma.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(604-606)CCA>CCG		tetratricopeptide repeat domain 33							125.0	112.0	117.0					5																	40716430		2203	4300	6503	SO:0001819	synonymous_variant	23548						binding	g.chr5:40716430T>C	BC015701	CCDS3931.1	5p13.1	2013-01-11			ENSG00000113638	ENSG00000113638		"""Tetratricopeptide (TTC) repeat domain containing"""	29959	protein-coding gene	gene with protein product	"""osmosis responsive factor"""					12477932	Standard	NM_012382		Approved	OSRF	uc003jma.3	Q6PID6	OTTHUMG00000131142	ENST00000337702.4:c.606A>G	5.37:g.40716430T>C						TTC33_uc011cpm.1_Silent_p.P94P|TTC33_uc010ivg.2_3'UTR	p.P202P	NM_012382	NP_036514	Q6PID6	TTC33_HUMAN			5	754	-			202					B2R6G0|O95105	Silent	SNP	ENST00000337702.4	37	c.606A>G	CCDS3931.1																																																																																				PASS	0.413	TTC33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253831.1	NM_012382		54	154	54	154	---	---	---	---
MRPS30	10884	broad.mit.edu	37	5	44815150	44815150	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr5:44815150G>A	ENST00000507110.1	+	5	1204	c.1166G>A	c.(1165-1167)cGt>cAt	p.R389H		NM_016640.3	NP_057724.2	Q9NP92	RT30_HUMAN	mitochondrial ribosomal protein S30	389					apoptotic process (GO:0006915)|translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.R389H(2)		central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1)	20	Lung NSC(6;8.08e-07)					AATAACCCTCGTAAAAATATA	0.363																																						uc003joh.2																			2	Substitution - Missense(2)		lung(2)		0						c.(1165-1167)CGT>CAT		mitochondrial ribosomal protein S30							85.0	88.0	87.0					5																	44815150		2203	4300	6503	SO:0001583	missense	10884				apoptosis|translation	mitochondrion|ribosome	structural constituent of ribosome	g.chr5:44815150G>A	AF146192	CCDS3951.1	5q11	2012-09-13		2001-11-09	ENSG00000112996	ENSG00000112996		"""Mitochondrial ribosomal proteins / small subunits"""	8769	protein-coding gene	gene with protein product		611991		PDCD9		10640817, 11279123	Standard	NM_016640		Approved	PAP	uc003joh.3	Q9NP92	OTTHUMG00000096967	ENST00000507110.1:c.1166G>A	5.37:g.44815150G>A	ENSP00000424328:p.Arg389His						p.R389H	NM_016640	NP_057724	Q9NP92	RT30_HUMAN			5	1204	+	Lung NSC(6;8.08e-07)		389					Q96I91|Q96Q19|Q9H0P8|Q9NSF9|Q9NZ76	Missense_Mutation	SNP	ENST00000507110.1	37	c.1166G>A	CCDS3951.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.255643	0.80135	.	.	ENSG00000112996	ENST00000507110	T	0.25579	1.79	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.55178	0.1904	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.48625	-0.9019	10	0.16896	T	0.51	-11.6487	20.1823	0.98208	0.0:0.0:1.0:0.0	.	389	Q9NP92	RT30_HUMAN	H	389	ENSP00000424328:R389H	ENSP00000424328:R389H	R	+	2	0	MRPS30	44850907	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.648000	0.98483	2.771000	0.95319	0.650000	0.86243	CGT		PASS	0.363	MRPS30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214033.2	NM_016640		26	100	26	100	---	---	---	---
DIAPH1	1729	broad.mit.edu	37	5	140953560	140953560	+	Silent	SNP	A	A	G			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr5:140953560A>G	ENST00000398557.4	-	16	1997	c.1857T>C	c.(1855-1857)ccT>ccC	p.P619P	DIAPH1_ENST00000398562.2_Silent_p.P610P|DIAPH1_ENST00000518047.1_Silent_p.P610P|DIAPH1_ENST00000520569.1_Silent_p.P565P|DIAPH1_ENST00000389057.5_Silent_p.P610P|DIAPH1_ENST00000253811.6_Silent_p.P619P|DIAPH1_ENST00000389054.3_Silent_p.P619P|DIAPH1_ENST00000398566.3_Silent_p.P610P	NM_005219.4	NP_005210.3	O60610	DIAP1_HUMAN	diaphanous-related formin 1	619	FH1.				actin filament polymerization (GO:0030041)|cellular response to histamine (GO:0071420)|cytoskeleton organization (GO:0007010)|positive regulation of cell migration (GO:0030335)|protein localization to microtubule (GO:0035372)|regulation of cell shape (GO:0008360)|regulation of microtubule-based process (GO:0032886)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|ruffle membrane (GO:0032587)	ion channel binding (GO:0044325)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)	p.P619P(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGGCAAaggaggtggaggag	0.572																																						uc003llb.3																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1855-1857)CCT>CCC		diaphanous 1 isoform 1							20.0	20.0	20.0					5																	140953560		1982	4109	6091	SO:0001819	synonymous_variant	1729				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding	g.chr5:140953560A>G	BC007411		5q31	2013-05-24	2013-05-24		ENSG00000131504	ENSG00000131504			2876	protein-coding gene	gene with protein product		602121	"""diaphanous (Drosophila, homolog) 1"", ""diaphanous homolog 1 (Drosophila)"""	DFNA1		9360932, 1350680	Standard	NM_005219		Approved	hDIA1, LFHL1	uc003llb.4	O60610	OTTHUMG00000149893	ENST00000398557.4:c.1857T>C	5.37:g.140953560A>G						DIAPH1_uc003llc.3_Silent_p.P610P|DIAPH1_uc010jgc.1_Silent_p.P58P	p.P619P	NM_005219	NP_005210	O60610	DIAP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		16	1998	-			619			FH1.		A6NF18|B7ZKW2|E9PEZ2|Q17RN4|Q59FH8|Q9UC76	Silent	SNP	ENST00000398557.4	37	c.1857T>C	CCDS43374.1																																																																																				PASS	0.572	DIAPH1-203	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_005219		2	2	2	2	---	---	---	---
PBX2	5089	broad.mit.edu	37	6	32154671	32154671	+	Silent	SNP	G	G	A			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr6:32154671G>A	ENST00000375050.4	-	7	1302	c.1032C>T	c.(1030-1032)ggC>ggT	p.G344G	AGER_ENST00000375067.3_5'Flank|AGER_ENST00000538695.1_5'Flank|XXbac-BPG300A18.13_ENST00000559458.1_RNA|AGER_ENST00000375065.5_5'Flank|AGER_ENST00000375070.3_5'Flank|AGER_ENST00000375069.3_5'Flank|AGER_ENST00000438221.2_5'Flank|AGER_ENST00000375055.2_5'Flank|AGER_ENST00000375076.4_5'Flank	NM_002586.4	NP_002577.2	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	344					embryonic limb morphogenesis (GO:0030326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.G344G(1)		endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						TGAAAGAGCCGCCAGAGCCTT	0.527																																						uc003oav.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1030-1032)GGC>GGT		pre-B-cell leukemia homeobox 2							43.0	45.0	45.0					6																	32154671		2203	4300	6503	SO:0001819	synonymous_variant	5089						transcription factor binding	g.chr6:32154671G>A		CCDS4748.1	6p21.32	2011-06-20	2007-01-30		ENSG00000204304	ENSG00000204304		"""Homeoboxes / TALE class"""	8633	protein-coding gene	gene with protein product		176311	"""pre-B-cell leukemia transcription factor 2"""			7835890	Standard	NM_002586		Approved	G17, HOX12, PBX2MHC	uc003oav.1	P40425	OTTHUMG00000031116	ENST00000375050.4:c.1032C>T	6.37:g.32154671G>A						AGER_uc003oar.2_5'Flank|AGER_uc011dpm.1_5'Flank|AGER_uc011dpn.1_5'Flank|AGER_uc003oal.1_5'Flank|AGER_uc010jtv.1_5'Flank|AGER_uc011dpo.1_5'Flank|AGER_uc003oam.1_5'Flank|AGER_uc003oan.1_5'Flank|AGER_uc003oap.1_5'Flank|AGER_uc003oat.1_5'Flank|AGER_uc003oao.1_5'Flank|AGER_uc003oaq.1_5'Flank|AGER_uc010jtw.1_5'Flank|AGER_uc003oas.1_5'Flank|AGER_uc003oau.1_5'Flank|AGER_uc011dpp.1_5'Flank|AGER_uc011dpq.1_5'Flank|AGER_uc011dpr.1_5'Flank|AGER_uc011dps.1_5'Flank	p.G344G	NM_002586	NP_002577	P40425	PBX2_HUMAN			7	1303	-			344					A2BFJ2	Silent	SNP	ENST00000375050.4	37	c.1032C>T	CCDS4748.1																																																																																				PASS	0.527	PBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076194.4			37	35	37	35	---	---	---	---
ENPP5	59084	broad.mit.edu	37	6	46133223	46133223	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr6:46133223C>T	ENST00000371383.2	-	4	1167	c.907G>A	c.(907-909)Gaa>Aaa	p.E303K	ENPP5_ENST00000230565.3_Missense_Mutation_p.E303K|ENPP5_ENST00000492313.1_5'UTR					ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)									p.E303K(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						TGCCACCTTTCTGGAACGTCT	0.398																																						uc003oxz.1																			1	Substitution - Missense(1)		lung(1)		0						c.(907-909)GAA>AAA		ectonucleotide pyrophosphatase/phosphodiesterase							238.0	202.0	214.0					6																	46133223		2203	4300	6503	SO:0001583	missense	59084					extracellular region|integral to membrane	hydrolase activity	g.chr6:46133223C>T	AL035701	CCDS4915.1	6p21.1-p11.2	2010-06-24	2010-06-24		ENSG00000112796	ENSG00000112796			13717	protein-coding gene	gene with protein product						11027689	Standard	XM_005249259		Approved		uc003oxz.1	Q9UJA9	OTTHUMG00000014781	ENST00000371383.2:c.907G>A	6.37:g.46133223C>T	ENSP00000360436:p.Glu303Lys					ENPP5_uc003oya.1_Missense_Mutation_p.E303K|ENPP5_uc011dvz.1_Missense_Mutation_p.E209K|ENPP5_uc010jzc.1_Missense_Mutation_p.E303K	p.E303K	NM_021572	NP_067547	Q9UJA9	ENPP5_HUMAN			3	1115	-			303						Missense_Mutation	SNP	ENST00000371383.2	37	c.907G>A	CCDS4915.1	.	.	.	.	.	.	.	.	.	.	C	18.20	3.572292	0.65765	.	.	ENSG00000112796	ENST00000371383;ENST00000230565	T;T	0.71341	-0.56;-0.56	5.64	4.77	0.60923	Alkaline-phosphatase-like, core domain (1);	0.233723	0.42172	D	0.000758	T	0.33702	0.0872	N	0.16016	0.355	0.35406	D	0.791986	B;B	0.24258	0.1;0.1	B;B	0.28305	0.088;0.06	T	0.17623	-1.0363	10	0.07813	T	0.8	-7.2314	14.7371	0.69424	0.0:0.9304:0.0:0.0696	.	303;303	A8K9X7;Q9UJA9	.;ENPP5_HUMAN	K	303	ENSP00000360436:E303K;ENSP00000230565:E303K	ENSP00000230565:E303K	E	-	1	0	ENPP5	46241182	0.950000	0.32346	0.084000	0.20598	0.610000	0.37248	3.361000	0.52306	1.519000	0.48950	0.563000	0.77884	GAA		PASS	0.398	ENPP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040779.2			68	107	68	107	---	---	---	---
IL17A	3605	broad.mit.edu	37	6	52052553	52052553	+	Silent	SNP	C	C	G			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr6:52052553C>G	ENST00000340057.1	+	2	225	c.180C>G	c.(178-180)ccC>ccG	p.P60P		NM_002190.2	NP_002181.1	Q16552	IL17_HUMAN	interleukin 17A	60					apoptotic process (GO:0006915)|cell death (GO:0008219)|cell-cell signaling (GO:0007267)|cellular response to interleukin-1 (GO:0071347)|fibroblast activation (GO:0072537)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of interleukin-23 production (GO:0032747)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein glycosylation (GO:0006486)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)	p.P60P(2)		endometrium(3)|large_intestine(2)|lung(8)|prostate(3)|skin(1)	17	Lung NSC(77;0.116)					ATACCAATCCCAAAAGGTCCT	0.453																																						uc003pak.1																			2	Substitution - coding silent(2)		prostate(1)|lung(1)		0						c.(178-180)CCC>CCG		interleukin 17A precursor							158.0	141.0	147.0					6																	52052553		2203	4300	6503	SO:0001819	synonymous_variant	3605				apoptosis|cell-cell signaling|fibroblast activation|immune response|inflammatory response|positive regulation of interleukin-23 production|positive regulation of osteoclast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein glycosylation	extracellular space	cytokine activity	g.chr6:52052553C>G	U32659	CCDS4937.1	6p12	2011-07-14	2006-04-26	2006-04-26	ENSG00000112115	ENSG00000112115		"""Interleukins and interleukin receptors"""	5981	protein-coding gene	gene with protein product	"""cytotoxic T-lymphocyte-associated protein 8"""	603149	"""interleukin 17 (cytotoxic T-lymphocyte-associated serine esterase 8)"""	CTLA8, IL17		8390535	Standard	NM_002190		Approved	IL-17A, IL-17	uc003pak.1	Q16552	OTTHUMG00000014840	ENST00000340057.1:c.180C>G	6.37:g.52052553C>G							p.P60P	NM_002190	NP_002181	Q16552	IL17_HUMAN			2	225	+	Lung NSC(77;0.116)		60					Q5T2P0	Silent	SNP	ENST00000340057.1	37	c.180C>G	CCDS4937.1																																																																																				PASS	0.453	IL17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040892.1	NM_002190		76	164	76	164	---	---	---	---
POU3F2	5454	broad.mit.edu	37	6	99282855	99282855	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr6:99282855G>C	ENST00000328345.5	+	1	276	c.106G>C	c.(106-108)Gaa>Caa	p.E36Q		NM_005604.3	NP_005595.2	P20265	PO3F2_HUMAN	POU class 3 homeobox 2	36					astrocyte development (GO:0014002)|cellular response to organic substance (GO:0071310)|cerebral cortex radially oriented cell migration (GO:0021799)|epidermis development (GO:0008544)|forebrain ventricular zone progenitor cell division (GO:0021869)|hypothalamus cell differentiation (GO:0021979)|myelination in peripheral nervous system (GO:0022011)|neurohypophysis development (GO:0021985)|neuron differentiation (GO:0030182)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of axonogenesis (GO:0050770)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	identical protein binding (GO:0042802)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E36Q(1)		endometrium(2)|large_intestine(3)|lung(5)	10		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0355)		GGGCTACCGCGAAGCGCAGAG	0.711																																						uc003ppe.2																			1	Substitution - Missense(1)		lung(1)		0						c.(106-108)GAA>CAA		POU domain, class 3, transcription factor 2							13.0	15.0	14.0					6																	99282855		2108	4151	6259	SO:0001583	missense	5454				positive regulation of cell proliferation		identical protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:99282855G>C	Z11933	CCDS5040.1	6q16.2	2011-06-20	2007-07-13		ENSG00000184486	ENSG00000184486		"""Homeoboxes / POU class"""	9215	protein-coding gene	gene with protein product		600494	"""POU domain class 3, transcription factor 2"""	OTF7		8441633	Standard	NM_005604		Approved	POUF3, BRN2, OCT7	uc003ppe.3	P20265	OTTHUMG00000015258	ENST00000328345.5:c.106G>C	6.37:g.99282855G>C	ENSP00000329170:p.Glu36Gln						p.E36Q	NM_005604	NP_005595	P20265	PO3F2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0355)	1	276	+		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)	36					Q14960|Q86V54|Q9UJL0	Missense_Mutation	SNP	ENST00000328345.5	37	c.106G>C	CCDS5040.1	.	.	.	.	.	.	.	.	.	.	g	6.702	0.498180	0.12762	.	.	ENSG00000184486	ENST00000328345;ENST00000425116	D	0.85088	-1.94	3.06	2.19	0.27852	.	2.756020	0.02457	U	0.086210	T	0.63674	0.2531	L	0.34521	1.04	0.23696	N	0.997086	P	0.38280	0.625	B	0.30716	0.119	T	0.58775	-0.7577	10	0.46703	T	0.11	.	10.2965	0.43627	0.0:0.0:0.8003:0.1997	.	36	P20265	PO3F2_HUMAN	Q	36	ENSP00000329170:E36Q	ENSP00000329170:E36Q	E	+	1	0	POU3F2	99389576	1.000000	0.71417	1.000000	0.80357	0.140000	0.21249	4.951000	0.63610	0.473000	0.27368	-0.677000	0.03784	GAA		PASS	0.711	POU3F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041586.2			11	36	11	36	---	---	---	---
RFPL4B	442247	broad.mit.edu	37	6	112671180	112671180	+	Silent	SNP	C	C	G			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr6:112671180C>G	ENST00000441065.2	+	3	582	c.270C>G	c.(268-270)ctC>ctG	p.L90L	RP11-506B6.6_ENST00000587816.1_RNA|RP11-506B6.6_ENST00000590673.1_RNA|RP11-506B6.6_ENST00000585611.1_RNA	NM_001013734.2	NP_001013756.2	Q6ZWI9	RFPLB_HUMAN	ret finger protein-like 4B	90	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)	p.L90L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	14		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)		GGGAGGAGCTCCGGCATTTTC	0.527																																						uc003pvx.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(268-270)CTC>CTG		ret finger protein-like 4B							94.0	84.0	87.0					6																	112671180		2203	4300	6503	SO:0001819	synonymous_variant	442247						zinc ion binding	g.chr6:112671180C>G	AK122906	CCDS34515.1	6q21	2007-04-24			ENSG00000251258	ENSG00000251258		"""RING-type (C3HC4) zinc fingers"""	33264	protein-coding gene	gene with protein product							Standard	NM_001013734		Approved	RNF211	uc003pvx.1	Q6ZWI9	OTTHUMG00000015390	ENST00000441065.2:c.270C>G	6.37:g.112671180C>G							p.L90L	NM_001013734	NP_001013756	Q6ZWI9	RFPLB_HUMAN		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)	3	582	+		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)	90			B30.2/SPRY.		A2RU91	Silent	SNP	ENST00000441065.2	37	c.270C>G	CCDS34515.1																																																																																				PASS	0.527	RFPL4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041885.2	NM_001013734		27	66	27	66	---	---	---	---
LAMA2	3908	broad.mit.edu	37	6	129419420	129419420	+	Nonsense_Mutation	SNP	C	C	T			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr6:129419420C>T	ENST00000421865.2	+	4	548	c.499C>T	c.(499-501)Cag>Tag	p.Q167*		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	167	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)	p.Q167*(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CAAGCCCTGGCAGTATCATGC	0.502																																						uc003qbn.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(8)|breast(1)|skin(1)	10						c.(499-501)CAG>TAG		laminin alpha 2 subunit isoform a precursor							109.0	101.0	104.0					6																	129419420		2203	4300	6503	SO:0001587	stop_gained	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129419420C>T	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.499C>T	6.37:g.129419420C>T	ENSP00000400365:p.Gln167*					LAMA2_uc003qbo.2_Nonsense_Mutation_p.Q167*	p.Q167*	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	4	604	+			167			Laminin N-terminal.		Q14736|Q5VUM2|Q93022	Nonsense_Mutation	SNP	ENST00000421865.2	37	c.499C>T	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	C	38	6.819972	0.97861	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	.	.	.	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.409	0.94660	0.0:1.0:0.0:0.0	.	.	.	.	X	167	.	ENSP00000346769:Q167X	Q	+	1	0	LAMA2	129461113	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.719000	0.84751	2.672000	0.90937	0.467000	0.42956	CAG		PASS	0.502	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			40	119	40	119	---	---	---	---
SGK1	6446	broad.mit.edu	37	6	134495894	134495894	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr6:134495894T>A	ENST00000237305.7	-	1	140	c.52A>T	c.(52-54)Agg>Tgg	p.R18W	SGK1_ENST00000413996.3_Intron|SGK1_ENST00000367857.5_5'UTR|SGK1_ENST00000475719.2_Missense_Mutation_p.R18W|SGK1_ENST00000367858.5_Intron|SGK1_ENST00000489458.2_5'Flank|SGK1_ENST00000528577.1_Intron	NM_005627.3	NP_005618.2	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	18	Necessary for localization to the mitochondria.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|ion transmembrane transport (GO:0034220)|long-term memory (GO:0007616)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of catalytic activity (GO:0050790)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of gastric acid secretion (GO:0060453)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|renal sodium ion absorption (GO:0070294)|response to stress (GO:0006950)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|sodium channel regulator activity (GO:0017080)	p.R18W(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		ACCATGCCCCTCATCCTGGAG	0.542																																						uc003qen.3																			1	Substitution - Missense(1)		lung(1)	skin(3)|stomach(1)|lung(1)|central_nervous_system(1)	6						c.(52-54)AGG>TGG		serum/glucocorticoid regulated kinase 1 isoform							136.0	130.0	132.0					6																	134495894		2203	4300	6503	SO:0001583	missense	6446				apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:134495894T>A	AJ000512	CCDS5170.1, CCDS47476.1, CCDS47477.1, CCDS47478.1	6q23	2008-02-05	2007-12-05	2007-12-05	ENSG00000118515	ENSG00000118515			10810	protein-coding gene	gene with protein product		602958	"""serum/glucocorticoid regulated kinase"""	SGK		9114008, 9722955	Standard	NM_005627		Approved		uc003qeo.4	O00141	OTTHUMG00000015613	ENST00000237305.7:c.52A>T	6.37:g.134495894T>A	ENSP00000237305:p.Arg18Trp					SGK1_uc003qeo.3_Intron|SGK1_uc011ect.1_5'UTR|SGK1_uc011ecu.1_Missense_Mutation_p.R18W|SGK1_uc011ecv.1_Intron|SGK1_uc011ecw.1_Intron	p.R18W	NM_005627	NP_005618	O00141	SGK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)	1	141	-	Colorectal(23;0.221)		18			Necessary for localization to the cytoplasm.		B7UUP7|B7UUP8|B7UUP9|B7Z5B2|E1P583|Q5TCN2|Q5TCN3|Q5TCN4|Q5VY65|Q9UN56	Missense_Mutation	SNP	ENST00000237305.7	37	c.52A>T	CCDS5170.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.415910	0.83449	.	.	ENSG00000118515	ENST00000237305;ENST00000475719	T;T	0.73681	-0.72;-0.77	5.79	1.89	0.25635	.	.	.	.	.	T	0.57888	0.2084	L	0.54323	1.7	0.80722	D	1	P;P	0.45569	0.861;0.833	B;B	0.39971	0.315;0.293	T	0.62492	-0.6843	9	0.87932	D	0	.	14.4272	0.67225	0.0:0.0:0.4871:0.5129	.	18;18	E9PR89;O00141	.;SGK1_HUMAN	W	18	ENSP00000237305:R18W;ENSP00000434302:R18W	ENSP00000237305:R18W	R	-	1	2	SGK1	134537587	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.686000	0.46968	0.076000	0.16826	0.533000	0.62120	AGG		PASS	0.542	SGK1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042312.2			76	232	76	232	---	---	---	---
HBS1L	10767	broad.mit.edu	37	6	135287503	135287503	+	Silent	SNP	G	G	A	rs567806855		TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr6:135287503G>A	ENST00000367837.5	-	17	2213	c.2007C>T	c.(2005-2007)taC>taT	p.Y669Y	HBS1L_ENST00000445176.2_Silent_p.Y393Y|HBS1L_ENST00000415177.2_Silent_p.Y604Y|HBS1L_ENST00000367824.4_Silent_p.Y505Y|HBS1L_ENST00000367826.2_Silent_p.Y627Y|HBS1L_ENST00000527578.1_Silent_p.Y505Y	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN	HBS1-like translational GTPase	669					signal transduction (GO:0007165)|translation (GO:0006412)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)	p.Y669Y(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		TAGAACCACCGTAACGTAGCA	0.378																																						uc003qez.2																			1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(2005-2007)TAC>TAT		Hsp70 subfamily B suppressor 1-like protein							151.0	140.0	144.0					6																	135287503		2203	4300	6503	SO:0001819	synonymous_variant	10767				signal transduction		GTP binding|GTPase activity|translation elongation factor activity	g.chr6:135287503G>A	U87791	CCDS5173.1, CCDS47479.1, CCDS47480.1	6q23.3	2014-04-30	2014-04-30		ENSG00000112339	ENSG00000112339			4834	protein-coding gene	gene with protein product	"""eRF3 family member"""	612450	"""HBS1 (S. cerevisiae)-like"", ""HBS1-like (S. cerevisiae)"""			9872408, 23667253	Standard	NM_006620		Approved	ERFS, HBS1, HSPC276, KIAA1038, DKFZp434g247, EF-1a, eRF3c	uc003qez.2	Q9Y450	OTTHUMG00000015626	ENST00000367837.5:c.2007C>T	6.37:g.135287503G>A						HBS1L_uc003qey.2_Silent_p.Y505Y|HBS1L_uc011ecy.1_Silent_p.Y393Y|HBS1L_uc011ecz.1_Silent_p.Y505Y|HBS1L_uc011eda.1_Silent_p.Y627Y	p.Y669Y	NM_006620	NP_006611	Q9Y450	HBS1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)	17	2214	-	Colorectal(23;0.221)		669					B7Z365|Q4VX89|Q4VX90|Q5T7G3|Q8NDW9|Q9UPW3	Silent	SNP	ENST00000367837.5	37	c.2007C>T	CCDS5173.1																																																																																				PASS	0.378	HBS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042339.2			45	100	45	100	---	---	---	---
BCLAF1	9774	broad.mit.edu	37	6	136597388	136597388	+	Silent	SNP	A	A	T			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr6:136597388A>T	ENST00000531224.1	-	5	1527	c.1275T>A	c.(1273-1275)acT>acA	p.T425T	BCLAF1_ENST00000530767.1_Intron|BCLAF1_ENST00000392348.2_Silent_p.T423T|BCLAF1_ENST00000527759.1_Silent_p.T423T|BCLAF1_ENST00000527536.1_Silent_p.T425T|BCLAF1_ENST00000353331.4_Silent_p.T423T	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	425					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.T425T(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		GGTGAGATGCAGTAGCAAAAC	0.403																																					Colon(142;1534 1789 5427 7063 28491)	uc003qgx.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1273-1275)ACT>ACA		BCL2-associated transcription factor 1 isoform							238.0	230.0	232.0					6																	136597388		2203	4300	6503	SO:0001819	synonymous_variant	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136597388A>T	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.1275T>A	6.37:g.136597388A>T						BCLAF1_uc003qgw.1_Intron|BCLAF1_uc003qgy.1_Silent_p.T423T|BCLAF1_uc011edc.1_Intron|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Silent_p.T423T	p.T425T	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	5	1528	-	Colorectal(23;0.24)		425					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Silent	SNP	ENST00000531224.1	37	c.1275T>A	CCDS5177.1																																																																																				PASS	0.403	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		70	379	70	379	---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152472735	152472735	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr6:152472735C>T	ENST00000367255.5	-	135	25004	c.24403G>A	c.(24403-24405)Gaa>Aaa	p.E8135K	SYNE1_ENST00000341594.5_Missense_Mutation_p.E7747K|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000265368.4_Missense_Mutation_p.E8135K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E8064K|SYNE1_ENST00000539504.1_Missense_Mutation_p.E290K|SYNE1_ENST00000448038.1_Missense_Mutation_p.E8064K|SYNE1_ENST00000354674.4_Missense_Mutation_p.E290K|SYNE1_ENST00000356820.4_Missense_Mutation_p.E2659K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8135					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.E8135K(2)|p.E8064K(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GAAAAATGTTCAATATTAGTG	0.413										HNSCC(10;0.0054)																												uc010kiw.2																			3	Substitution - Missense(3)		lung(3)	central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(24403-24405)GAA>AAA		spectrin repeat containing, nuclear envelope 1							47.0	47.0	47.0					6																	152472735		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152472735C>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.24403G>A	6.37:g.152472735C>T	ENSP00000356224:p.Glu8135Lys	HNSCC(10;0.0054)				SYNE1_uc010kiv.2_Missense_Mutation_p.E2659K|SYNE1_uc003qos.3_Missense_Mutation_p.E2659K|SYNE1_uc003qot.3_Missense_Mutation_p.E8064K|SYNE1_uc003qou.3_Missense_Mutation_p.E8135K|SYNE1_uc003qop.3_Missense_Mutation_p.E297K|SYNE1_uc011eez.1_Missense_Mutation_p.E337K|SYNE1_uc003qoq.3_Missense_Mutation_p.E337K|SYNE1_uc003qor.3_Missense_Mutation_p.E1035K	p.E8135K	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	135	25005	-		Ovarian(120;0.0955)	8135			Spectrin 30.|Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.24403G>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	36	5.818333	0.96982	.	.	ENSG00000131018	ENST00000367255;ENST00000539504;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000313630;ENST00000367247;ENST00000367251;ENST00000354674	T;T;T;T;T;T;T;T;T;T	0.37411	1.2;1.2;1.2;1.2;1.2;1.2;1.2;1.2;1.2;1.2	5.97	5.97	0.96955	.	0.000000	0.56097	D	0.000022	T	0.54711	0.1875	M	0.69823	2.125	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999	D;D;D;D;D	0.97110	1.0;1.0;0.999;1.0;0.996	T	0.40421	-0.9564	10	0.33940	T	0.23	.	20.4388	0.99107	0.0:1.0:0.0:0.0	.	8135;8135;8064;8064;337	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9;B7Z9Y6	SYNE1_HUMAN;.;.;.;.	K	8135;290;781;8064;8135;8064;7747;2659;297;292;1057;290	ENSP00000356224:E8135K;ENSP00000441052:E290K;ENSP00000356226:E781K;ENSP00000396024:E8064K;ENSP00000265368:E8135K;ENSP00000390975:E8064K;ENSP00000341887:E7747K;ENSP00000349276:E2659K;ENSP00000356220:E1057K;ENSP00000346701:E290K	ENSP00000265368:E8135K	E	-	1	0	SYNE1	152514428	1.000000	0.71417	0.953000	0.39169	0.957000	0.61999	7.625000	0.83145	2.836000	0.97738	0.655000	0.94253	GAA		PASS	0.413	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		10	45	10	45	---	---	---	---
TFB1M	51106	broad.mit.edu	37	6	155635542	155635542	+	Silent	SNP	G	G	C			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr6:155635542G>C	ENST00000367166.4	-	1	76	c.21C>G	c.(19-21)ctC>ctG	p.L7L	TFB1M_ENST00000480390.1_5'UTR	NM_016020.3	NP_057104.2	Q8WVM0	TFB1M_HUMAN	transcription factor B1, mitochondrial	7					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mitochondrial nucleoid (GO:0042645)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)	p.L7L(1)		lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;1.48e-12)|BRCA - Breast invasive adenocarcinoma(81;0.0131)		GGCAAGTGCTGAGTTTTCCGG	0.552																																						uc003qqj.3																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(19-21)CTC>CTG		transcription factor B1, mitochondrial							108.0	96.0	100.0					6																	155635542		2203	4300	6503	SO:0001819	synonymous_variant	51106				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	DNA binding|protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity	g.chr6:155635542G>C	AF151833	CCDS5248.1	6q25.1-q25.3	2011-01-28			ENSG00000029639	ENSG00000029639			17037	protein-coding gene	gene with protein product	"""dimethyladenosine transferase 1, mitochondrial"""	607033				10810093, 11809803	Standard	NM_016020		Approved	mtTFB, CGI-75	uc003qqj.4	Q8WVM0	OTTHUMG00000015881	ENST00000367166.4:c.21C>G	6.37:g.155635542G>C						TFB1M_uc003qqk.2_RNA	p.L7L	NM_016020	NP_057104	Q8WVM0	TFB1M_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.48e-12)|BRCA - Breast invasive adenocarcinoma(81;0.0131)	1	85	-		Ovarian(120;0.196)	7					Q05DR0|Q9Y384	Silent	SNP	ENST00000367166.4	37	c.21C>G	CCDS5248.1																																																																																				PASS	0.552	TFB1M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042809.1			27	85	27	85	---	---	---	---
MICALL2	79778	broad.mit.edu	37	7	1487280	1487280	+	Silent	SNP	T	T	C			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr7:1487280T>C	ENST00000297508.7	-	4	631	c.456A>G	c.(454-456)ctA>ctG	p.L152L	MICALL2_ENST00000405088.4_Intron	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	152	Forms an intramolecular interaction with the C-terminal coiled coil domain keeping the protein in a closed conformation. {ECO:0000250}.				actin cytoskeleton reorganization (GO:0031532)|actin filament polymerization (GO:0030041)|endocytic recycling (GO:0032456)|neuron projection development (GO:0031175)|substrate adhesion-dependent cell spreading (GO:0034446)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin filament binding (GO:0051015)|filamin binding (GO:0031005)|zinc ion binding (GO:0008270)	p.L152L(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		GGGCTGGAGATAGTGGAGGCT	0.677																																						uc003skj.3																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(454-456)CTA>CTG		MICAL-like 2 isoform 1							23.0	24.0	24.0					7																	1487280		2162	4279	6441	SO:0001819	synonymous_variant	79778					cytoplasm|cytoskeleton	zinc ion binding	g.chr7:1487280T>C	BC037988	CCDS5324.1	7p22.3	2006-11-24			ENSG00000164877	ENSG00000164877			29672	protein-coding gene	gene with protein product	"""junctional Rab13-binding protein"""					12110185, 16525024	Standard	NM_182924		Approved	MGC46023, FLJ23471, MICAL-L2, JRAB	uc003skj.4	Q8IY33	OTTHUMG00000119021	ENST00000297508.7:c.456A>G	7.37:g.1487280T>C							p.L152L	NM_182924	NP_891554	Q8IY33	MILK2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)	4	603	-		Ovarian(82;0.0253)	152					D3YTD2|Q7RTP4|Q7Z655|Q8TEQ4|Q9H5F9	Silent	SNP	ENST00000297508.7	37	c.456A>G	CCDS5324.1																																																																																				PASS	0.677	MICALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239223.2	NM_182924		9	9	9	9	---	---	---	---
USP42	84132	broad.mit.edu	37	7	6189578	6189578	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr7:6189578G>A	ENST00000306177.5	+	13	1909	c.1751G>A	c.(1750-1752)cGc>cAc	p.R584H		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	584					cell differentiation (GO:0030154)|protein deubiquitination (GO:0016579)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)	p.R584H(1)|p.R712H(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		CCGATCCCCCGCAGTGAATCC	0.527																																						uc011jwo.1																			2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)|pancreas(1)|breast(1)	5						c.(1750-1752)CGC>CAC		ubiquitin specific peptidase 42							53.0	56.0	55.0					7																	6189578		1930	4141	6071	SO:0001583	missense	84132				cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr7:6189578G>A	AK022759	CCDS47535.1	7p22.2	2005-08-08	2005-08-08		ENSG00000106346	ENSG00000106346		"""Ubiquitin-specific peptidases"""	20068	protein-coding gene	gene with protein product			"""ubiquitin specific protease 42"""			12838346	Standard	NM_032172		Approved	FLJ12697	uc011jwp.2	Q9H9J4	OTTHUMG00000151888	ENST00000306177.5:c.1751G>A	7.37:g.6189578G>A	ENSP00000301962:p.Arg584His					USP42_uc010kth.1_Missense_Mutation_p.R517H|USP42_uc011jwp.1_Missense_Mutation_p.R584H|USP42_uc011jwq.1_Missense_Mutation_p.R391H|USP42_uc011jwr.1_Missense_Mutation_p.R429H	p.R584H	NM_032172	NP_115548	Q9H9J4	UBP42_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)	13	1874	+		Ovarian(82;0.0423)	584					A2RUE3|B5MDA5|Q0VIN8|Q3C166|Q6P9B4	Missense_Mutation	SNP	ENST00000306177.5	37	c.1751G>A	CCDS47535.1	.	.	.	.	.	.	.	.	.	.	G	7.438	0.640123	0.14386	.	.	ENSG00000106346	ENST00000306177;ENST00000426246	T;T	0.14640	2.49;2.9	5.51	1.67	0.24075	.	0.465418	0.22019	N	0.065742	T	0.05227	0.0139	N	0.08118	0	0.09310	N	1	P;P;P;P	0.45078	0.767;0.85;0.767;0.476	B;B;B;B	0.33750	0.13;0.169;0.082;0.082	T	0.33574	-0.9863	10	0.45353	T	0.12	.	8.6799	0.34203	0.0:0.6266:0.242:0.1314	.	547;584;584;584	A4D2N7;Q9H9J4-2;Q9H9J4;A4D2N6	.;.;UBP42_HUMAN;.	H	584;430	ENSP00000301962:R584H;ENSP00000408217:R430H	ENSP00000301962:R584H	R	+	2	0	USP42	6156104	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.455000	0.21843	0.036000	0.15547	-1.058000	0.02302	CGC		PASS	0.527	USP42-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324262.3	XM_166526		24	53	24	53	---	---	---	---
CHN2	1124	broad.mit.edu	37	7	29552256	29552256	+	Missense_Mutation	SNP	C	C	A	rs34971642	byFrequency	TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr7:29552256C>A	ENST00000222792.6	+	13	1842	c.1312C>A	c.(1312-1314)Ccc>Acc	p.P438T	CHN2_ENST00000495789.2_Missense_Mutation_p.P451T|CHN2_ENST00000539406.1_Missense_Mutation_p.P513T|AC007255.8_ENST00000447171.1_RNA|CHN2_ENST00000435288.2_Missense_Mutation_p.P162T|CHN2_ENST00000439711.2_Missense_Mutation_p.P256T|AC007255.8_ENST00000450540.2_RNA|CHN2_ENST00000409041.4_Missense_Mutation_p.P302T|CHN2_ENST00000546235.1_Missense_Mutation_p.P423T|CHN2_ENST00000424025.2_Missense_Mutation_p.P257T|CHN2_ENST00000539389.1_Missense_Mutation_p.P294T|CHN2_ENST00000410098.1_3'UTR|CHN2_ENST00000421775.2_Missense_Mutation_p.P244T	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN	chimerin 2	438	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.		P -> S (in dbSNP:rs34971642).		positive regulation of GTPase activity (GO:0043547)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|SH3/SH2 adaptor activity (GO:0005070)	p.P302T(1)|p.P438T(1)		breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						TCTGATGAGGCCCCCTGAGGA	0.423																																					Ovarian(1;44 48 13232 18918 31480)	uc003szz.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1312-1314)CCC>ACC		beta chimerin isoform 2							92.0	93.0	93.0					7																	29552256		2203	4300	6503	SO:0001583	missense	1124				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	g.chr7:29552256C>A	L29126	CCDS5420.1	7p15.3	2013-02-14	2012-10-17		ENSG00000106069	ENSG00000106069		"""Rho GTPase activating proteins"", ""SH2 domain containing"""	1944	protein-coding gene	gene with protein product	"""beta chimerin"", ""chimaerin 2"""	602857	"""chimerin (chimaerin) 2"""			8175705	Standard	XM_005249602		Approved	ARHGAP3, RhoGAP3	uc003szz.3	P52757	OTTHUMG00000023063	ENST00000222792.6:c.1312C>A	7.37:g.29552256C>A	ENSP00000222792:p.Pro438Thr					CHN2_uc011jzs.1_Missense_Mutation_p.P513T|CHN2_uc010kva.2_3'UTR|CHN2_uc010kvb.2_RNA|CHN2_uc010kvc.2_Missense_Mutation_p.P403T|CHN2_uc011jzt.1_Missense_Mutation_p.P451T|CHN2_uc010kvd.2_Missense_Mutation_p.P294T|CHN2_uc011jzu.1_Missense_Mutation_p.P423T|CHN2_uc010kvg.2_Missense_Mutation_p.P256T|CHN2_uc010kvh.2_Missense_Mutation_p.P198T|CHN2_uc010kvi.2_Missense_Mutation_p.P230T|CHN2_uc010kve.2_3'UTR|CHN2_uc003taa.2_Missense_Mutation_p.P302T|CHN2_uc010kvf.2_Missense_Mutation_p.P244T|CHN2_uc010kvj.2_Missense_Mutation_p.P211T|CHN2_uc010kvk.2_Missense_Mutation_p.P113T|CHN2_uc010kvl.2_RNA|CHN2_uc010kvm.2_Missense_Mutation_p.P257T|CHN2_uc011jzv.1_Missense_Mutation_p.P231T	p.P438T	NM_004067	NP_004058	P52757	CHIO_HUMAN			13	1749	+			438			Rho-GAP.		A4D1A2|B3VCF1|B3VCF2|B3VCF3|B3VCF7|B3VCG1|C9J7B0|E9PGE0|F8QPL9|Q2M203|Q75MM2	Missense_Mutation	SNP	ENST00000222792.6	37	c.1312C>A	CCDS5420.1	.	.	.	.	.	.	.	.	.	.	C	12.17	1.856850	0.32791	.	.	ENSG00000106069	ENST00000539406;ENST00000222792;ENST00000435288;ENST00000495789;ENST00000539389;ENST00000546235;ENST00000409041;ENST00000424025;ENST00000439711;ENST00000421775	T;T;T;T;T;T;T;T;T;T	0.19394	2.15;2.15;2.15;2.15;2.15;2.15;2.15;2.15;2.15;2.15	5.41	4.54	0.55810	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.094683	0.85682	D	0.000000	T	0.23410	0.0566	L	0.53780	1.695	0.58432	D	0.999999	B;B;P;P;P;P;P;B;B;B;B;B;P;B	0.42296	0.008;0.029;0.565;0.775;0.622;0.571;0.753;0.107;0.095;0.201;0.268;0.124;0.622;0.124	B;B;B;B;P;B;B;B;B;B;B;B;P;B	0.45099	0.016;0.064;0.282;0.356;0.469;0.403;0.417;0.141;0.141;0.141;0.085;0.19;0.469;0.19	T	0.03095	-1.1073	10	0.06891	T	0.86	.	14.049	0.64725	0.0:0.9263:0.0:0.0737	.	231;423;451;513;257;211;230;198;256;244;294;438;302;438	B7Z215;B7Z1W9;B7Z1V0;F5H003;B3VCF1;B3VCF2;B3VCF5;B3VCF4;B3VCF7;B3VCF3;B3VCG1;A4D1A2;E9PGE0;P52757	.;.;.;.;.;.;.;.;.;.;.;.;.;CHIO_HUMAN	T	513;438;162;451;294;423;302;257;256;244	ENSP00000444063:P513T;ENSP00000222792:P438T;ENSP00000400282:P162T;ENSP00000438587:P451T;ENSP00000440526:P294T;ENSP00000442812:P423T;ENSP00000386849:P302T;ENSP00000406337:P257T;ENSP00000387425:P256T;ENSP00000394284:P244T	ENSP00000222792:P438T	P	+	1	0	CHN2	29518781	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	1.629000	0.37071	1.426000	0.47256	0.650000	0.86243	CCC		PASS	0.423	CHN2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214228.2	NM_004067		34	110	34	110	---	---	---	---
PDE1C	5137	broad.mit.edu	37	7	32109912	32109912	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr7:32109912G>A	ENST00000396191.1	-	1	549	c.94C>T	c.(94-96)Cgc>Tgc	p.R32C	PDE1C_ENST00000321453.7_Missense_Mutation_p.R32C|PDE1C_ENST00000396184.3_Missense_Mutation_p.R32C|PDE1C_ENST00000396193.1_Intron|PDE1C_ENST00000396182.2_Missense_Mutation_p.R32C	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	32					activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)	p.R32C(4)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	TACAGCCCGCGGAGCCGAAGC	0.507																																						uc003tcm.1																			4	Substitution - Missense(4)		lung(2)|skin(2)	skin(3)|central_nervous_system(1)	4						c.(94-96)CGC>TGC		phosphodiesterase 1C							135.0	135.0	135.0					7																	32109912		2203	4300	6503	SO:0001583	missense	5137				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr7:32109912G>A	U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"""Phosphodiesterases"""	8776	protein-coding gene	gene with protein product		602987	"""phosphodiesterase 1C, calmodulin-dependent (70kD)"""			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.94C>T	7.37:g.32109912G>A	ENSP00000379494:p.Arg32Cys					PDE1C_uc003tcn.1_Missense_Mutation_p.R32C|PDE1C_uc003tco.1_Intron|PDE1C_uc003tcr.2_Missense_Mutation_p.R32C|PDE1C_uc003tcs.2_Missense_Mutation_p.R32C	p.R32C	NM_005020	NP_005011	Q14123	PDE1C_HUMAN	GBM - Glioblastoma multiforme(11;0.216)		1	563	-			32					B3KPC6|E9PE92|Q14124|Q8NB10	Missense_Mutation	SNP	ENST00000396191.1	37	c.94C>T	CCDS55099.1	.	.	.	.	.	.	.	.	.	.	G	19.64	3.864767	0.71949	.	.	ENSG00000154678	ENST00000396191;ENST00000321453;ENST00000396184;ENST00000396182;ENST00000396189	T;T;T;T	0.74002	-0.8;-0.8;-0.77;-0.77	4.94	4.94	0.65067	.	.	.	.	.	T	0.74450	0.3718	N	0.14661	0.345	0.47476	D	0.999436	D;D	0.89917	0.999;1.0	D;D	0.77557	0.911;0.99	T	0.77332	-0.2627	9	0.72032	D	0.01	.	12.263	0.54661	0.0:0.0:0.7176:0.2824	.	32;32	Q14123-2;Q14123	.;PDE1C_HUMAN	C	32	ENSP00000379494:R32C;ENSP00000318105:R32C;ENSP00000379487:R32C;ENSP00000379485:R32C	ENSP00000318105:R32C	R	-	1	0	PDE1C	32076437	1.000000	0.71417	1.000000	0.80357	0.666000	0.39218	5.202000	0.65169	2.706000	0.92434	0.655000	0.94253	CGC		PASS	0.507	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328458.1			6	196	6	196	---	---	---	---
BBS9	27241	broad.mit.edu	37	7	33195308	33195308	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr7:33195308G>T	ENST00000242067.6	+	4	843	c.322G>T	c.(322-324)Gtc>Ttc	p.V108F	BBS9_ENST00000354265.4_Missense_Mutation_p.V108F|BBS9_ENST00000355070.2_Missense_Mutation_p.V108F|BBS9_ENST00000396127.2_Missense_Mutation_p.V108F|BBS9_ENST00000350941.3_Missense_Mutation_p.V108F|BBS9_ENST00000425508.2_Missense_Mutation_p.V63F	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	108					cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)		p.V108F(2)	BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			TGTCTACTCTGTCTCAGGTAA	0.318									Bardet-Biedl syndrome																													uc003tdn.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						c.(322-324)GTC>TTC		parathyroid hormone-responsive B1 isoform 2							71.0	70.0	70.0					7																	33195308		2201	4297	6498	SO:0001583	missense	27241	Bardet-Biedl_syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding	g.chr7:33195308G>T		CCDS5441.1, CCDS34618.1, CCDS43566.1, CCDS47572.1	7p14	2014-06-17			ENSG00000122507	ENSG00000122507			30000	protein-coding gene	gene with protein product	"""parathyroid hormone responsive B1 gene"""	607968				16380913, 10221542	Standard	XM_005249701		Approved	B1, PTHB1	uc003tdn.1	Q3SYG4	OTTHUMG00000128659	ENST00000242067.6:c.322G>T	7.37:g.33195308G>T	ENSP00000242067:p.Val108Phe					BBS9_uc003tdo.1_Missense_Mutation_p.V108F|BBS9_uc003tdp.1_Missense_Mutation_p.V108F|BBS9_uc003tdq.1_Missense_Mutation_p.V108F|BBS9_uc010kwn.1_RNA|BBS9_uc011kan.1_Missense_Mutation_p.V108F|BBS9_uc011kao.1_5'Flank	p.V108F	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	GBM - Glioblastoma multiforme(11;0.0894)		4	835	+			108					E9PDC9|P78514|Q7KYS6|Q7KYS7|Q8N570|Q99844|Q99854|Q9Y699|Q9Y6A0	Missense_Mutation	SNP	ENST00000242067.6	37	c.322G>T	CCDS43566.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.226045	0.79576	.	.	ENSG00000122507	ENST00000242067;ENST00000350941;ENST00000396127;ENST00000355070;ENST00000354265;ENST00000396132;ENST00000396125;ENST00000425508	D;D;D;D;D;D	0.85411	-1.98;-1.98;-1.98;-1.98;-1.98;-1.98	4.95	4.95	0.65309	.	0.121927	0.53938	D	0.000043	D	0.91723	0.7383	M	0.72118	2.19	0.50313	D	0.999867	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999	D;D;D;D;D	0.80764	0.962;0.989;0.994;0.989;0.989	D	0.91134	0.4940	9	.	.	.	-14.82	18.6673	0.91495	0.0:0.0:1.0:0.0	.	108;108;108;108;108	B3KQ86;Q3SYG4-2;E9PDC9;Q3SYG4-4;Q3SYG4	.;.;.;.;PTHB1_HUMAN	F	108;108;108;108;108;108;108;63	ENSP00000242067:V108F;ENSP00000313122:V108F;ENSP00000379433:V108F;ENSP00000347182:V108F;ENSP00000346214:V108F;ENSP00000405151:V63F	.	V	+	1	0	BBS9	33161833	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.678000	0.46900	2.682000	0.91365	0.557000	0.71058	GTC		PASS	0.318	BBS9-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329064.1			8	28	8	28	---	---	---	---
ASL	435	broad.mit.edu	37	7	65557572	65557572	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr7:65557572C>A	ENST00000304874.9	+	16	1274	c.1172C>A	c.(1171-1173)tCc>tAc	p.S391Y	ASL_ENST00000395331.3_Missense_Mutation_p.S371Y|ASL_ENST00000380839.4_Missense_Mutation_p.S365Y|AC068533.7_ENST00000450043.1_Silent_p.L159L|ASL_ENST00000464970.1_3'UTR|ASL_ENST00000395332.3_Missense_Mutation_p.S391Y	NM_000048.3	NP_000039.2	P04424	ARLY_HUMAN	argininosuccinate lyase	391					arginine biosynthetic process via ornithine (GO:0042450)|arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|internal protein amino acid acetylation (GO:0006475)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	argininosuccinate lyase activity (GO:0004056)	p.S391Y(1)		breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18					L-Arginine(DB00125)	CACGAGGCCTCCGGGAAAGCT	0.637																																						uc003tuo.2																			1	Substitution - Missense(1)		lung(1)	breast(2)	2						c.(1171-1173)TCC>TAC		argininosuccinate lyase isoform 1	L-Arginine(DB00125)						58.0	59.0	59.0					7																	65557572		2203	4300	6503	SO:0001583	missense	435				arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle	cytosol	argininosuccinate lyase activity	g.chr7:65557572C>A		CCDS5531.1, CCDS47597.1, CCDS47598.1	7q11.21	2012-10-02			ENSG00000126522	ENSG00000126522	4.3.2.1		746	protein-coding gene	gene with protein product		608310					Standard	NM_001024943		Approved		uc003tuo.3	P04424	OTTHUMG00000022876	ENST00000304874.9:c.1172C>A	7.37:g.65557572C>A	ENSP00000307188:p.Ser391Tyr					ASL_uc003tup.2_Missense_Mutation_p.S391Y|ASL_uc003tur.2_Missense_Mutation_p.S365Y|ASL_uc003tuq.2_Missense_Mutation_p.S371Y	p.S391Y	NM_000048	NP_000039	P04424	ARLY_HUMAN			16	1283	+			391					E7EMI0|E9PE48|Q6LDS5|Q96HS2	Missense_Mutation	SNP	ENST00000304874.9	37	c.1172C>A	CCDS5531.1	.	.	.	.	.	.	.	.	.	.	c	27.0	4.791743	0.90453	.	.	ENSG00000126522	ENST00000304874;ENST00000380839;ENST00000395332;ENST00000395331	D;D;D;D	0.90732	-2.72;-2.72;-2.72;-2.72	5.28	5.28	0.74379	L-Aspartase-like (1);	0.056540	0.64402	D	0.000001	D	0.96318	0.8799	M	0.92970	3.365	0.80722	D	1	D;D;D	0.69078	0.987;0.996;0.997	D;P;D	0.66351	0.927;0.876;0.943	D	0.97096	0.9794	10	0.87932	D	0	.	18.2562	0.90020	0.0:1.0:0.0:0.0	.	365;371;391	E9PE48;E7EMI0;P04424	.;.;ARLY_HUMAN	Y	391;365;391;371	ENSP00000307188:S391Y;ENSP00000370219:S365Y;ENSP00000378741:S391Y;ENSP00000378740:S371Y	ENSP00000307188:S391Y	S	+	2	0	ASL	65195007	1.000000	0.71417	0.995000	0.50966	0.907000	0.53573	4.916000	0.63362	2.622000	0.88805	0.491000	0.48974	TCC		PASS	0.637	ASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251695.2	NM_000048		81	192	81	192	---	---	---	---
MAGI2	9863	broad.mit.edu	37	7	77885613	77885613	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr7:77885613G>A	ENST00000354212.4	-	10	1947	c.1694C>T	c.(1693-1695)cCg>cTg	p.P565L	MAGI2_ENST00000522391.1_Missense_Mutation_p.P565L|MAGI2_ENST00000536571.1_Missense_Mutation_p.P397L|MAGI2_ENST00000535697.1_Missense_Mutation_p.P402L|MAGI2_ENST00000419488.1_Missense_Mutation_p.P565L	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	565					cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)	p.P565L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				AGAATGAGGCGGCCGATCTGT	0.507																																						uc003ugx.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|lung(4)|breast(1)|skin(1)	11						c.(1693-1695)CCG>CTG		membrane associated guanylate kinase, WW and PDZ							114.0	95.0	102.0					7																	77885613		2203	4300	6503	SO:0001583	missense	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:77885613G>A	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.1694C>T	7.37:g.77885613G>A	ENSP00000346151:p.Pro565Leu					MAGI2_uc003ugy.2_Missense_Mutation_p.P565L|MAGI2_uc010ldx.1_Missense_Mutation_p.P174L|MAGI2_uc010ldy.1_Missense_Mutation_p.P174L|MAGI2_uc011kgr.1_Missense_Mutation_p.P397L|MAGI2_uc011kgs.1_Missense_Mutation_p.P402L	p.P565L	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN			10	1948	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	565					A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	37	c.1694C>T	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	G	14.15	2.448688	0.43531	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391;ENST00000536571;ENST00000535697	T;T;T;T;T	0.11712	2.84;2.85;2.75;3.75;3.76	5.94	5.94	0.96194	.	0.000000	0.36409	U	0.002613	T	0.09642	0.0237	L	0.34521	1.04	0.80722	D	1	P;B;B;B;P;P	0.40970	0.625;0.007;0.071;0.291;0.534;0.734	B;B;B;B;B;B	0.31337	0.128;0.011;0.006;0.014;0.053;0.101	T	0.13953	-1.0490	10	0.34782	T	0.22	.	19.3473	0.94370	0.0:0.0:1.0:0.0	.	402;397;565;565;565;565	F5GWH1;F5GWK7;B7Z4H4;E7EWI0;Q86UL8-2;Q86UL8	.;.;.;.;.;MAGI2_HUMAN	L	565;565;565;565;397;402	ENSP00000405766:P565L;ENSP00000346151:P565L;ENSP00000428389:P565L;ENSP00000441584:P397L;ENSP00000441603:P402L	ENSP00000346151:P565L	P	-	2	0	MAGI2	77723549	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.664000	0.68045	2.816000	0.96949	0.561000	0.74099	CCG		PASS	0.507	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		36	70	36	70	---	---	---	---
CD36	948	broad.mit.edu	37	7	80290394	80290394	+	Silent	SNP	C	C	A			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr7:80290394C>A	ENST00000435819.1	+	8	981	c.297C>A	c.(295-297)gcC>gcA	p.A99A	CD36_ENST00000432207.1_Silent_p.A99A|CD36_ENST00000394788.3_Silent_p.A99A|CD36_ENST00000534394.1_Silent_p.A23A|CD36_ENST00000538969.1_Silent_p.A99A|CD36_ENST00000544133.1_Silent_p.A99A|CD36_ENST00000309881.7_Silent_p.A99A|CD36_ENST00000433696.2_Silent_p.A99A|CD36_ENST00000447544.2_Silent_p.A99A			P16671	CD36_HUMAN	CD36 molecule (thrombospondin receptor)	99	Required for interaction with thrombospondins, THBS1 and THBS2.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cellular lipid metabolic process (GO:0044255)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to hydroperoxide (GO:0071447)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cGMP-mediated signaling (GO:0019934)|cholesterol transport (GO:0030301)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response (GO:0045087)|lipid metabolic process (GO:0006629)|lipid storage (GO:0019915)|lipoprotein transport (GO:0042953)|long-chain fatty acid import (GO:0044539)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle mediated signaling (GO:0055096)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of transcription factor import into nucleus (GO:0042992)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nitric oxide mediated signal transduction (GO:0007263)|phagocytosis, recognition (GO:0006910)|plasma lipoprotein particle clearance (GO:0034381)|plasma membrane long-chain fatty acid transport (GO:0015911)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood microparticle formation (GO:2000334)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of removal of superoxide radicals (GO:2000121)|response to stilbenoid (GO:0035634)|small molecule metabolic process (GO:0044281)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)|lipoprotein particle binding (GO:0071813)|lipoteichoic acid receptor activity (GO:0070892)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|thrombospondin receptor activity (GO:0070053)|transforming growth factor beta binding (GO:0050431)	p.A99A(4)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						GTTTTCTAGCCAAGGAAAATG	0.393																																						uc003uhc.2																			4	Substitution - coding silent(4)		lung(4)	ovary(1)	1						c.(295-297)GCC>GCA		CD36 antigen							106.0	97.0	100.0					7																	80290394		2203	4300	6503	SO:0001819	synonymous_variant	948				cell adhesion|cGMP-mediated signaling|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation	integral to plasma membrane|membrane fraction|platelet alpha granule membrane	lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding	g.chr7:80290394C>A	Z32770	CCDS34673.1	7q11.2	2010-02-26	2006-03-28		ENSG00000135218	ENSG00000135218		"""CD molecules"""	1663	protein-coding gene	gene with protein product		173510	"""CD36 antigen (collagen type I receptor, thrombospondin receptor)"""			7503937	Standard	NM_001001548		Approved	SCARB3, GPIV, FAT, GP4, GP3B	uc003uhg.4	P16671	OTTHUMG00000155383	ENST00000435819.1:c.297C>A	7.37:g.80290394C>A						CD36_uc003uhd.3_Silent_p.A99A|CD36_uc011kgv.1_Silent_p.A23A|CD36_uc003uhe.3_Silent_p.A99A|CD36_uc003uhf.3_Silent_p.A99A|CD36_uc003uhg.3_Silent_p.A99A|CD36_uc003uhh.3_Silent_p.A99A	p.A99A	NM_001127444	NP_001120916	P16671	CD36_HUMAN			8	981	+			99			Required for interaction with thrombospondins, THBS1 and THBS2.|Extracellular (Potential).		D9IX66|D9IX67|D9IX68|D9IX69|Q13966|Q16093|Q8TCV7|Q9BPZ8|Q9BQC2|Q9BZM8|Q9BZN3|Q9BZN4|Q9BZN5	Silent	SNP	ENST00000435819.1	37	c.297C>A	CCDS34673.1																																																																																				PASS	0.393	CD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339767.6	NM_001001547		63	97	63	97	---	---	---	---
PLXNA4	91584	broad.mit.edu	37	7	131853302	131853302	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr7:131853302C>A	ENST00000359827.3	-	22	5009	c.4047G>T	c.(4045-4047)gaG>gaT	p.E1349D	PLXNA4_ENST00000321063.4_Missense_Mutation_p.E1349D			Q9HCM2	PLXA4_HUMAN	plexin A4	1349					anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.E1349D(2)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TCAGGCCTTTCTCCACACGCT	0.612																																						uc003vra.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(4045-4047)GAG>GAT		plexin A4 isoform 1							58.0	65.0	63.0					7																	131853302		2202	4300	6502	SO:0001583	missense	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131853302C>A	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.4047G>T	7.37:g.131853302C>A	ENSP00000352882:p.Glu1349Asp						p.E1349D	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN			22	4276	-			1349			Cytoplasmic (Potential).		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	c.4047G>T	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.622639	0.87460	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.12879	2.64;2.64	5.49	5.49	0.81192	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.34600	0.0903	L	0.58510	1.815	0.80722	D	1	D	0.76494	0.999	D	0.74348	0.983	T	0.00885	-1.1527	10	0.28530	T	0.3	.	19.3569	0.94418	0.0:1.0:0.0:0.0	.	1349	Q9HCM2	PLXA4_HUMAN	D	1349	ENSP00000323194:E1349D;ENSP00000352882:E1349D	ENSP00000323194:E1349D	E	-	3	2	PLXNA4	131503842	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.049000	0.57397	2.582000	0.87167	0.462000	0.41574	GAG		PASS	0.612	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		37	45	37	45	---	---	---	---
CNOT4	4850	broad.mit.edu	37	7	135080421	135080421	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr7:135080421G>A	ENST00000315544.5	-	9	1373	c.1094C>T	c.(1093-1095)cCt>cTt	p.P365L	CNOT4_ENST00000356162.4_Missense_Mutation_p.P365L|CNOT4_ENST00000414802.1_Missense_Mutation_p.P365L|CNOT4_ENST00000423368.2_Missense_Mutation_p.P365L|CNOT4_ENST00000428680.2_Missense_Mutation_p.P362L|CNOT4_ENST00000541284.1_Missense_Mutation_p.P365L|CNOT4_ENST00000451834.1_Missense_Mutation_p.P362L|CNOT4_ENST00000361528.4_Missense_Mutation_p.P362L	NM_001190848.1	NP_001177777.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	365					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|protein autoubiquitination (GO:0051865)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.P365L(3)|p.P362L(1)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						TGGTGCTGTAGGCCAGTCACT	0.458																																					Ovarian(51;766 1130 5502 35047 50875)	uc003vsv.1																			4	Substitution - Missense(4)		lung(4)		0						c.(1093-1095)CCT>CTT		CCR4-NOT transcription complex, subunit 4							150.0	157.0	155.0					7																	135080421		1996	4168	6164	SO:0001583	missense	4850				nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:135080421G>A	AF180475	CCDS43650.1, CCDS47719.1, CCDS55164.1, CCDS55165.1, CCDS55166.1, CCDS55167.1	7q33	2013-09-19			ENSG00000080802	ENSG00000080802		"""RNA binding motif (RRM) containing"""	7880	protein-coding gene	gene with protein product		604911		NOT4		10637334	Standard	NM_013316		Approved	CLONE243, NOT4H	uc011kpy.2	O95628	OTTHUMG00000155568	ENST00000315544.5:c.1094C>T	7.37:g.135080421G>A	ENSP00000326731:p.Pro365Leu					CNOT4_uc003vss.2_Missense_Mutation_p.P362L|CNOT4_uc011kpz.1_Missense_Mutation_p.P362L|CNOT4_uc003vst.2_Missense_Mutation_p.P365L|CNOT4_uc003vsu.1_Missense_Mutation_p.P362L|CNOT4_uc011kpy.1_Missense_Mutation_p.P365L	p.P365L	NM_001008225	NP_001008226	O95628	CNOT4_HUMAN			9	1401	-			365					B7Z6I4|E7ET38|F8VQP3|O95339|O95627|Q8IYM7|Q8NCL0|Q9NPQ1|Q9NZN6	Missense_Mutation	SNP	ENST00000315544.5	37	c.1094C>T	CCDS55166.1	.	.	.	.	.	.	.	.	.	.	G	19.38	3.816863	0.70912	.	.	ENSG00000080802	ENST00000541284;ENST00000451834;ENST00000423368;ENST00000262563;ENST00000361528;ENST00000414802;ENST00000356162;ENST00000428680;ENST00000315544	T;T;T;T;T;T;T;T	0.51574	0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.59972	0.2233	L	0.29908	0.895	0.80722	D	1	B;P;B;B;D;B	0.76494	0.421;0.557;0.18;0.275;0.999;0.039	B;B;B;B;D;B	0.78314	0.157;0.299;0.035;0.037;0.991;0.047	T	0.61332	-0.7084	10	0.66056	D	0.02	-9.1919	19.0473	0.93027	0.0:0.0:1.0:0.0	.	362;365;365;362;365;362	E7ET38;F8VQP3;O95628;O95628-2;O95628-4;O95628-8	.;.;CNOT4_HUMAN;.;.;.	L	365;362;365;365;362;365;365;362;365	ENSP00000445508:P365L;ENSP00000388491:P362L;ENSP00000406777:P365L;ENSP00000354673:P362L;ENSP00000416532:P365L;ENSP00000348485:P365L;ENSP00000399108:P362L;ENSP00000326731:P365L	ENSP00000262563:P365L	P	-	2	0	CNOT4	134730961	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.753000	0.94483	0.455000	0.32223	CCT		PASS	0.458	CNOT4-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_013316		136	155	136	155	---	---	---	---
KIAA1549	57670	broad.mit.edu	37	7	138593849	138593849	+	Missense_Mutation	SNP	G	G	A	rs368584498		TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr7:138593849G>A	ENST00000422774.1	-	5	3212	c.3164C>T	c.(3163-3165)cCg>cTg	p.P1055L	KIAA1549_ENST00000440172.1_Missense_Mutation_p.P1055L|KIAA1549_ENST00000242365.4_Missense_Mutation_p.P1005L			Q9HCM3	K1549_HUMAN	KIAA1549	1055						integral component of membrane (GO:0016021)		p.P1005L(1)|p.P1055L(1)	KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						ATCCACACTCGGAGGCACAAA	0.433			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)	uc011kql.1				Dom	yes		7	7q34	57670	O	KIAA1549			O	BRAF		pilocytic astrocytoma	KIAA1549/BRAF(229)	2	Substitution - Missense(2)		lung(2)	central_nervous_system(229)|pancreas(1)	230						c.(3163-3165)CCG>CTG		hypothetical protein LOC57670 isoform 1		G	LEU/PRO,LEU/PRO	1,3819		0,1,1909	58.0	56.0	57.0		3164,3164	2.4	1.0	7		57	0,8254		0,0,4127	no	missense,missense	KIAA1549	NM_001164665.1,NM_020910.2	98,98	0,1,6036	AA,AG,GG		0.0,0.0262,0.0083	probably-damaging,probably-damaging	1055/1951,1055/1935	138593849	1,12073	1910	4127	6037	SO:0001583	missense	57670					integral to membrane		g.chr7:138593849G>A		CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.3164C>T	7.37:g.138593849G>A	ENSP00000416040:p.Pro1055Leu					KIAA1549_uc003vuk.3_Missense_Mutation_p.P1005L|KIAA1549_uc011kqj.1_Missense_Mutation_p.P1055L	p.P1055L	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN			5	3213	-			1055					B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	ENST00000422774.1	37	c.3164C>T	CCDS56513.1	.	.	.	.	.	.	.	.	.	.	G	13.06	2.122995	0.37436	2.62E-4	0.0	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.23147	1.92;1.92;1.92	4.53	2.42	0.29668	.	0.431377	0.21173	N	0.078954	T	0.13243	0.0321	N	0.19112	0.55	0.42298	D	0.99216	P;P	0.48407	0.91;0.89	B;B	0.38106	0.265;0.173	T	0.05750	-1.0866	10	0.45353	T	0.12	.	6.9614	0.24599	0.0:0.1131:0.4964:0.3904	.	1055;1055	Q9HCM3;Q9HCM3-2	K1549_HUMAN;.	L	1055;1005;1055	ENSP00000406661:P1055L;ENSP00000242365:P1005L;ENSP00000416040:P1055L	ENSP00000242365:P1005L	P	-	2	0	KIAA1549	138244389	0.849000	0.29639	0.988000	0.46212	0.962000	0.63368	1.407000	0.34657	0.479000	0.27511	0.585000	0.79938	CCG		PASS	0.433	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1			20	11	20	11	---	---	---	---
CNTNAP2	26047	broad.mit.edu	37	7	146829535	146829535	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr7:146829535G>A	ENST00000361727.3	+	8	1798	c.1282G>A	c.(1282-1284)Gaa>Aaa	p.E428K		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	428	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)	p.E428K(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TGACCTCACTGAAAGCAAAGT	0.438										HNSCC(39;0.1)																												uc003weu.1																			1	Substitution - Missense(1)		lung(1)	ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.(1282-1284)GAA>AAA		cell recognition molecule Caspr2 precursor							125.0	108.0	114.0					7																	146829535		2203	4300	6503	SO:0001583	missense	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:146829535G>A	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.1282G>A	7.37:g.146829535G>A	ENSP00000354778:p.Glu428Lys	HNSCC(39;0.1)					p.E428K	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		8	1798	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	428			Extracellular (Potential).|Laminin G-like 2.		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.1282G>A	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.970866	0.92919	.	.	ENSG00000174469	ENST00000361727	T	0.79653	-1.29	5.7	5.7	0.88788	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.170356	0.36519	N	0.002558	T	0.80154	0.4571	M	0.67700	2.07	0.80722	D	1	B	0.22146	0.065	B	0.25759	0.063	T	0.74551	-0.3628	10	0.22109	T	0.4	.	18.3986	0.90507	0.0:0.0:1.0:0.0	.	428	Q9UHC6	CNTP2_HUMAN	K	428	ENSP00000354778:E428K	ENSP00000354778:E428K	E	+	1	0	CNTNAP2	146460468	1.000000	0.71417	0.361000	0.25849	0.990000	0.78478	9.318000	0.96334	2.686000	0.91538	0.591000	0.81541	GAA		PASS	0.438	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			33	141	33	141	---	---	---	---
CUL1	8454	broad.mit.edu	37	7	148463729	148463729	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr7:148463729G>A	ENST00000325222.4	+	8	1145	c.866G>A	c.(865-867)aGg>aAg	p.R289K	CUL1_ENST00000409469.1_Missense_Mutation_p.R289K|CUL1_ENST00000602748.1_Missense_Mutation_p.R289K	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	289					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|SCF ubiquitin ligase complex (GO:0019005)		p.R289K(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			GAATTAGCAAGGAAATGTGAA	0.388																																						uc010lpg.2																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(865-867)AGG>AAG		cullin 1							66.0	64.0	64.0					7																	148463729		2203	4300	6503	SO:0001583	missense	8454				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr7:148463729G>A	U58087	CCDS34772.1	7q36.1	2011-05-24			ENSG00000055130	ENSG00000055130			2551	protein-coding gene	gene with protein product		603134				8681378	Standard	NM_003592		Approved		uc003wey.3	Q13616	OTTHUMG00000152776	ENST00000325222.4:c.866G>A	7.37:g.148463729G>A	ENSP00000326804:p.Arg289Lys					CUL1_uc003wey.2_Missense_Mutation_p.R289K|CUL1_uc003wez.2_Missense_Mutation_p.R179K	p.R289K	NM_003592	NP_003583	Q13616	CUL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)		8	1392	+	Melanoma(164;0.15)		289					D3DWG3|O60719|Q08AL6|Q8IYW1	Missense_Mutation	SNP	ENST00000325222.4	37	c.866G>A	CCDS34772.1	.	.	.	.	.	.	.	.	.	.	G	11.29	1.594330	0.28445	.	.	ENSG00000055130	ENST00000409469;ENST00000325222;ENST00000543583;ENST00000433865	T;T	0.27402	1.67;1.67	4.81	4.81	0.61882	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.107189	0.64402	D	0.000011	T	0.14442	0.0349	N	0.03115	-0.41	0.80722	D	1	B	0.02656	0.0	B	0.08055	0.003	T	0.10847	-1.0612	10	0.06625	T	0.88	-11.4584	18.2561	0.90020	0.0:0.0:1.0:0.0	.	289	Q13616	CUL1_HUMAN	K	289;289;247;216	ENSP00000387160:R289K;ENSP00000326804:R289K	ENSP00000326804:R289K	R	+	2	0	CUL1	148094662	1.000000	0.71417	0.798000	0.32154	0.966000	0.64601	9.506000	0.97992	2.370000	0.80446	0.655000	0.94253	AGG		PASS	0.388	CUL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467785.1	NM_003592		69	72	69	72	---	---	---	---
AGAP3	116988	broad.mit.edu	37	7	150813909	150813909	+	Silent	SNP	C	C	T			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr7:150813909C>T	ENST00000397238.2	+	2	361	c.361C>T	c.(361-363)Ctg>Ttg	p.L121L	AGAP3_ENST00000476375.1_3'UTR|AGAP3_ENST00000473312.1_Silent_p.L121L|AGAP3_ENST00000335367.3_Silent_p.L301L|AGAP3_ENST00000463381.1_5'UTR|AGAP3_ENST00000479901.1_Silent_p.L121L	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	85	Small GTPase-like.				cellular response to reactive oxygen species (GO:0034614)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)	p.L121L(2)		central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						GGAGTGGACGCTGAGCCGCTC	0.687																																						uc003wjg.1																			2	Substitution - coding silent(2)		lung(2)	central_nervous_system(2)|ovary(1)	3						c.(361-363)CTG>TTG		centaurin, gamma 3 isoform a							62.0	69.0	67.0					7																	150813909		2143	4267	6410	SO:0001819	synonymous_variant	116988				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding	g.chr7:150813909C>T	AF413079	CCDS43681.1, CCDS55185.1, CCDS64802.1	7q36.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000133612	ENSG00000133612		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16923	protein-coding gene	gene with protein product			"""centaurin, gamma 3"""	CENTG3			Standard	NM_001042535		Approved		uc003wjg.1	Q96P47	OTTHUMG00000158724	ENST00000397238.2:c.361C>T	7.37:g.150813909C>T						AGAP3_uc003wje.1_5'UTR|AGAP3_uc003wjf.1_Silent_p.L121L|AGAP3_uc010lpy.1_Silent_p.L121L|AGAP3_uc003wjh.1_Silent_p.L301L	p.L121L	NM_031946	NP_114152	Q96P47	AGAP3_HUMAN			2	364	+			85			Small GTPase-like.		B3KNZ8|E9PAL8|Q59EN0|Q96RK3	Silent	SNP	ENST00000397238.2	37	c.361C>T	CCDS43681.1																																																																																				PASS	0.687	AGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351908.3	NM_031946		99	137	99	137	---	---	---	---
UBE3C	9690	broad.mit.edu	37	7	157013451	157013451	+	Silent	SNP	G	G	T			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr7:157013451G>T	ENST00000348165.5	+	15	2343	c.1983G>T	c.(1981-1983)ccG>ccT	p.P661P		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	661					protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.P661P(1)		central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		GGATAGGCCCGCTGCAGTCCA	0.527																																						uc010lqs.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(2)|large_intestine(1)	5						c.(1981-1983)CCG>CCT		ubiquitin protein ligase E3C							94.0	78.0	84.0					7																	157013451		2203	4300	6503	SO:0001819	synonymous_variant	9690				protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	g.chr7:157013451G>T	AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.1983G>T	7.37:g.157013451G>T						UBE3C_uc003wni.3_5'UTR	p.P661P	NM_014671	NP_055486	Q15386	UBE3C_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)	15	2295	+		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	661					A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Silent	SNP	ENST00000348165.5	37	c.1983G>T	CCDS34789.1																																																																																				PASS	0.527	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348108.1	NM_014671		63	75	63	75	---	---	---	---
DLGAP2	9228	broad.mit.edu	37	8	1497519	1497519	+	Missense_Mutation	SNP	C	C	A	rs200420347		TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr8:1497519C>A	ENST00000421627.2	+	2	794	c.660C>A	c.(658-660)gaC>gaA	p.D220E		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	299					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)		p.D264E(1)|p.D242E(1)		breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		GGAGCTCGGACGACAACCTGG	0.692																																						uc003wpl.2																			2	Substitution - Missense(2)		lung(2)		0						c.(658-660)GAC>GAA		discs large-associated protein 2							38.0	50.0	46.0					8																	1497519		2194	4291	6485	SO:0001583	missense	9228				neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	g.chr8:1497519C>A	AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"""discs, large (Drosophila) homolog-associated protein 2"""			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.660C>A	8.37:g.1497519C>A	ENSP00000400258:p.Asp220Glu					DLGAP2_uc003wpm.2_Missense_Mutation_p.D220E	p.D220E	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)	2	757	+		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)	299					A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Missense_Mutation	SNP	ENST00000421627.2	37	c.660C>A	CCDS47760.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.46|19.46	3.831782|3.831782	0.71258|0.71258	.|.	.|.	ENSG00000198010|ENSG00000198010	ENST00000356067;ENST00000421627|ENST00000520901	T|.	0.41065|.	1.01|.	5.42|5.42	-3.56|-3.56	0.04626|0.04626	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77315|0.77315	0.4112|0.4112	M|M	0.89785|0.89785	3.06|3.06	0.33715|0.33715	D|D	0.616295|0.616295	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.998|.	T|T	0.82242|0.82242	-0.0554|-0.0554	10|5	0.87932|.	D|.	0|.	-17.6948|-17.6948	15.6691|15.6691	0.77258|0.77258	0.0:0.1235:0.0:0.8765|0.0:0.1235:0.0:0.8765	.|.	299;299|.	Q9P1A6-2;Q9P1A6|.	.;DLGP2_HUMAN|.	E|K	265;220|237	ENSP00000400258:D220E|.	ENSP00000348366:D265E|.	D|T	+|+	3|2	2|0	DLGAP2|DLGAP2	1484926|1484926	0.984000|0.984000	0.35163|0.35163	0.390000|0.390000	0.26220|0.26220	0.980000|0.980000	0.70556|0.70556	0.040000|0.040000	0.13905|0.13905	-1.006000|-1.006000	0.03412|0.03412	-0.794000|-0.794000	0.03295|0.03295	GAC|ACG		PASS	0.692	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	NM_004745		73	54	73	54	---	---	---	---
CSMD1	64478	broad.mit.edu	37	8	2910062	2910062	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr8:2910062C>G	ENST00000520002.1	-	51	8140	c.7585G>C	c.(7585-7587)Gaa>Caa	p.E2529Q	CSMD1_ENST00000602557.1_Missense_Mutation_p.E2529Q|CSMD1_ENST00000537824.1_Missense_Mutation_p.E2528Q|CSMD1_ENST00000602723.1_Missense_Mutation_p.E2529Q|CSMD1_ENST00000400186.3_Missense_Mutation_p.E2529Q|CSMD1_ENST00000542608.1_Missense_Mutation_p.E2528Q			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2529	Sushi 15. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)		p.E2528Q(1)|p.E2257Q(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGGCTGGATTCAAGCTTGAAG	0.512																																						uc011kwk.1																			2	Substitution - Missense(2)		lung(2)	breast(20)|large_intestine(5)	25						c.(7585-7587)GAA>CAA		CUB and Sushi multiple domains 1 precursor							56.0	56.0	56.0					8																	2910062		1968	4161	6129	SO:0001583	missense	64478					integral to membrane		g.chr8:2910062C>G			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.7585G>C	8.37:g.2910062C>G	ENSP00000430733:p.Glu2529Gln					CSMD1_uc011kwj.1_Missense_Mutation_p.E1858Q|CSMD1_uc010lrg.2_Missense_Mutation_p.E597Q	p.E2529Q	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	50	7975	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	2529			Extracellular (Potential).|Sushi 15.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.7585G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.867|8.867	0.948296|0.948296	0.18356|0.18356	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608|ENST00000335551	T;T;T;T|.	0.63255|.	-0.03;-0.03;-0.03;-0.03|.	5.32|5.32	5.32|5.32	0.75619|0.75619	Complement control module (2);Sushi/SCR/CCP (3);|.	0.347798|.	0.29073|.	N|.	0.013233|.	T|.	0.37652|.	0.1011|.	N|N	0.05158|0.05158	-0.105|-0.105	0.80722|0.80722	D|D	1|1	B;B;B|.	0.13594|.	0.002;0.001;0.008|.	B;B;B|.	0.15052|.	0.005;0.005;0.012|.	T|.	0.28235|.	-1.0050|.	10|.	0.08381|.	T|.	0.77|.	.|.	14.9041|14.9041	0.70703|0.70703	0.0:0.857:0.143:0.0|0.0:0.857:0.143:0.0	.|.	2529;2529;2528|.	E5RIG2;Q96PZ7;F5H2I8|.	.;CSMD1_HUMAN;.|.	Q|S	2529;2529;2390;2528;2528|1945	ENSP00000383047:E2529Q;ENSP00000430733:E2529Q;ENSP00000441462:E2528Q;ENSP00000446243:E2528Q|.	ENSP00000320445:E2390Q|.	E|X	-|-	1|2	0|2	CSMD1|CSMD1	2897469|2897469	0.991000|0.991000	0.36638|0.36638	0.012000|0.012000	0.15200|0.15200	0.019000|0.019000	0.09904|0.09904	4.536000|4.536000	0.60636|0.60636	2.628000|2.628000	0.89032|0.89032	0.655000|0.655000	0.94253|0.94253	GAA|TGA		PASS	0.512	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		6	14	6	14	---	---	---	---
POTEA	340441	broad.mit.edu	37	8	43147713	43147713	+	RNA	SNP	G	G	A			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr8:43147713G>A	ENST00000522175.2	+	0	88							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A									p.C29Y(1)		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						AAGTGGTGCTGCTGCTGCTTC	0.587																																						uc003xpz.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(85-87)TGC>TAC		POTE ankyrin domain family, member A isoform 2							49.0	52.0	51.0					8																	43147713		2199	4300	6499			340441							g.chr8:43147713G>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.43147713G>A						POTEA_uc003xqa.1_Missense_Mutation_p.C29Y	p.C29Y	NM_001005365	NP_001005365	Q6S8J7	POTEA_HUMAN			1	129	+			29			Cys-rich.		A6ND17|A6ND71|Q6S8J6	Missense_Mutation	SNP	ENST00000522175.2	37	c.86G>A																																																																																					PASS	0.587	POTEA-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000383492.1	NM_001002920		61	48	61	48	---	---	---	---
TRPA1	8989	broad.mit.edu	37	8	72936124	72936124	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr8:72936124C>G	ENST00000262209.4	-	26	3281	c.3074G>C	c.(3073-3075)tGc>tCc	p.C1025S	RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	1025					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)	p.C1025S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	TTCCCCAGTGCAAAATAAAAA	0.294																																						uc003xza.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(1)|kidney(1)	6						c.(3073-3075)TGC>TCC		ankyrin-like protein 1	Menthol(DB00825)						66.0	76.0	72.0					8																	72936124		2198	4296	6494	SO:0001583	missense	8989					integral to plasma membrane		g.chr8:72936124C>G	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.3074G>C	8.37:g.72936124C>G	ENSP00000262209:p.Cys1025Ser					uc011lff.1_Intron|uc003xyy.2_Intron	p.C1025S	NM_007332	NP_015628	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		26	3249	-			1025			Cytoplasmic (Potential).		A6NIN6	Missense_Mutation	SNP	ENST00000262209.4	37	c.3074G>C	CCDS34908.1	.	.	.	.	.	.	.	.	.	.	C	2.252	-0.371335	0.05034	.	.	ENSG00000104321	ENST00000523582;ENST00000262209	T;T	0.39592	1.07;1.23	5.82	-2.57	0.06248	.	1.111310	0.06393	N	0.717474	T	0.20577	0.0495	N	0.17723	0.515	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.18366	-1.0339	10	0.11485	T	0.65	1.1812	2.3746	0.04338	0.1021:0.2958:0.3219:0.2802	.	1025	O75762	TRPA1_HUMAN	S	877;1025	ENSP00000428151:C877S;ENSP00000262209:C1025S	ENSP00000262209:C1025S	C	-	2	0	TRPA1	73098678	0.001000	0.12720	0.000000	0.03702	0.010000	0.07245	-0.144000	0.10280	-0.467000	0.06932	0.655000	0.94253	TGC		PASS	0.294	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332		8	31	8	31	---	---	---	---
TRPA1	8989	broad.mit.edu	37	8	72987580	72987580	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr8:72987580T>C	ENST00000262209.4	-	1	272	c.65A>G	c.(64-66)tAt>tGt	p.Y22C		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	22					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)	p.Y22C(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	CACATCCTCATAGACAACGCC	0.642																																						uc003xza.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(1)|kidney(1)	6						c.(64-66)TAT>TGT		ankyrin-like protein 1	Menthol(DB00825)						102.0	104.0	104.0					8																	72987580		2203	4300	6503	SO:0001583	missense	8989					integral to plasma membrane		g.chr8:72987580T>C	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.65A>G	8.37:g.72987580T>C	ENSP00000262209:p.Tyr22Cys						p.Y22C	NM_007332	NP_015628	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		1	240	-			22			Cytoplasmic (Potential).		A6NIN6	Missense_Mutation	SNP	ENST00000262209.4	37	c.65A>G	CCDS34908.1	.	.	.	.	.	.	.	.	.	.	T	6.120	0.390377	0.11581	.	.	ENSG00000104321	ENST00000262209	T	0.39592	1.07	4.58	3.42	0.39159	.	0.208186	0.43110	N	0.000604	T	0.39733	0.1089	M	0.70275	2.135	0.33669	D	0.61071	B	0.19200	0.034	B	0.16722	0.016	T	0.48399	-0.9039	10	0.37606	T	0.19	-7.4485	8.7694	0.34722	0.0:0.0885:0.0:0.9115	.	22	O75762	TRPA1_HUMAN	C	22	ENSP00000262209:Y22C	ENSP00000262209:Y22C	Y	-	2	0	TRPA1	73150134	0.993000	0.37304	0.141000	0.22245	0.010000	0.07245	1.415000	0.34748	0.885000	0.36088	0.482000	0.46254	TAT		PASS	0.642	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332		59	251	59	251	---	---	---	---
STAU2	27067	broad.mit.edu	37	8	74585361	74585361	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr8:74585361G>A	ENST00000521419.1	-	5	583	c.277C>T	c.(277-279)Cgg>Tgg	p.R93W	STAU2_ENST00000519961.1_Missense_Mutation_p.R131W|STAU2_ENST00000523558.1_Intron|STAU2_ENST00000524300.1_Missense_Mutation_p.R131W|RP11-463D19.1_ENST00000533978.1_lincRNA|STAU2_ENST00000517542.1_Missense_Mutation_p.R93W|STAU2_ENST00000521210.1_Missense_Mutation_p.R27W|STAU2_ENST00000522695.1_Missense_Mutation_p.R99W|STAU2_ENST00000521727.1_Missense_Mutation_p.R111W|STAU2_ENST00000355780.5_Missense_Mutation_p.R99W|STAU2_ENST00000524104.1_Missense_Mutation_p.R99W|STAU2_ENST00000522509.1_Missense_Mutation_p.R99W|STAU2_ENST00000522962.1_5'UTR|STAU2_ENST00000521451.1_Intron			Q9NUL3	STAU2_HUMAN	staufen double-stranded RNA binding protein 2	131					transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)	p.R27W(1)|p.R131W(1)|p.R99W(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			TACATGCCCCGAAAGTTGTAA	0.363																																						uc003xzm.2																			3	Substitution - Missense(3)		lung(3)		0						c.(391-393)CGG>TGG		staufen homolog 2 isoform e							105.0	100.0	102.0					8																	74585361		2203	4300	6503	SO:0001583	missense	27067				transport	endoplasmic reticulum|microtubule|nucleolus	double-stranded RNA binding	g.chr8:74585361G>A	Y19062	CCDS6214.1, CCDS55244.1, CCDS55245.1, CCDS55246.1, CCDS55247.1, CCDS55248.1	8q21.11	2013-06-05	2013-06-05		ENSG00000040341	ENSG00000040341			11371	protein-coding gene	gene with protein product		605920	"""staufen (Drosophila, RNA-binding protein) homolog 2"", ""staufen, RNA binding protein, homolog 2 (Drosophila)"""			10585778	Standard	NM_014393		Approved	39K2	uc003xzm.3	Q9NUL3	OTTHUMG00000164499	ENST00000521419.1:c.277C>T	8.37:g.74585361G>A	ENSP00000428681:p.Arg93Trp					STAU2_uc011lfg.1_Intron|STAU2_uc003xzn.2_Missense_Mutation_p.R99W|STAU2_uc011lfh.1_Missense_Mutation_p.R27W|STAU2_uc003xzo.2_Missense_Mutation_p.R131W|STAU2_uc003xzp.2_Missense_Mutation_p.R99W|STAU2_uc011lfi.1_Missense_Mutation_p.R93W|STAU2_uc003xzq.2_Intron|STAU2_uc010lzk.2_Missense_Mutation_p.R99W|STAU2_uc010lzl.1_Intron|STAU2_uc003xzs.2_Missense_Mutation_p.R99W|STAU2_uc003xzr.2_Missense_Mutation_p.R93W	p.R131W	NM_014393	NP_055208	Q9NUL3	STAU2_HUMAN	Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)		6	627	-	Breast(64;0.0138)		131			DRBM 2.		B7Z1I6|B7Z292|B7Z8B4|E7ER74|E9PEI3|E9PF26|E9PF50|Q6AHY7|Q96HM0|Q96HM1|Q9NVI5|Q9UGG6	Missense_Mutation	SNP	ENST00000521419.1	37	c.391C>T		.	.	.	.	.	.	.	.	.	.	G	21.6	4.171828	0.78452	.	.	ENSG00000040341	ENST00000522695;ENST00000524300;ENST00000521210;ENST00000355780;ENST00000519961;ENST00000521727;ENST00000522509;ENST00000517542;ENST00000521447;ENST00000524104;ENST00000521419	T;T;T;T;T;T;T;T;T	0.53206	1.15;1.19;0.97;1.16;1.18;1.18;1.16;1.19;0.63	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.70718	0.3256	M	0.70275	2.135	0.58432	D	0.999998	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;0.989;1.0;0.997;0.999;0.998;0.998;0.998	T	0.71009	-0.4716	10	0.72032	D	0.01	-13.3478	20.4183	0.99029	0.0:0.0:1.0:0.0	.	111;27;99;93;99;131;99;131	E7EPX0;E9PEI3;A8K276;E5RGT3;F8VPI7;E7EVJ4;E9PH62;E9PF26	.;.;.;.;.;.;.;.	W	99;131;27;99;131;111;99;93;99;99;93	ENSP00000428456:R99W;ENSP00000428756:R131W;ENSP00000429173:R27W;ENSP00000348026:R99W;ENSP00000430907:R131W;ENSP00000429973:R111W;ENSP00000427977:R99W;ENSP00000431111:R93W;ENSP00000428829:R99W	ENSP00000348026:R99W	R	-	1	2	STAU2	74747915	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.939000	0.75911	2.834000	0.97654	0.580000	0.79431	CGG		PASS	0.363	STAU2-013	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000379012.2	NM_001164380		18	103	18	103	---	---	---	---
OSGIN2	734	broad.mit.edu	37	8	90936800	90936800	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr8:90936800G>A	ENST00000297438.2	+	6	913	c.558G>A	c.(556-558)atG>atA	p.M186I	OSGIN2_ENST00000451899.2_Missense_Mutation_p.M230I	NM_004337.2	NP_004328.1	Q9Y236	OSGI2_HUMAN	oxidative stress induced growth inhibitor family member 2	186					meiotic nuclear division (GO:0007126)			p.M186I(1)|p.M230I(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(1)	17			BRCA - Breast invasive adenocarcinoma(11;0.0344)			TAAAAGTCATGGGTCTTCAGA	0.343																																						uc003yeg.2																			2	Substitution - Missense(2)		lung(2)		0						c.(556-558)ATG>ATA		oxidative stress induced growth inhibitor family							82.0	91.0	88.0					8																	90936800		2203	4300	6503	SO:0001583	missense	734				germ cell development|meiosis			g.chr8:90936800G>A	AF061326	CCDS6248.1, CCDS47888.1	8q21	2006-10-05	2006-10-05	2006-10-05	ENSG00000164823	ENSG00000164823			1355	protein-coding gene	gene with protein product		604598	"""chromosome 8 open reading frame 1"""	C8orf1		9933573	Standard	NM_004337		Approved	hT41	uc003yeh.3	Q9Y236	OTTHUMG00000163811	ENST00000297438.2:c.558G>A	8.37:g.90936800G>A	ENSP00000297438:p.Met186Ile					OSGIN2_uc003yeh.2_Missense_Mutation_p.M230I	p.M186I	NM_004337	NP_004328	Q9Y236	OSGI2_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0344)		6	904	+			186						Missense_Mutation	SNP	ENST00000297438.2	37	c.558G>A	CCDS6248.1	.	.	.	.	.	.	.	.	.	.	G	17.68	3.449866	0.63290	.	.	ENSG00000164823	ENST00000297438;ENST00000451899	T;T	0.21932	1.98;1.98	5.23	5.23	0.72850	.	0.038067	0.85682	D	0.000000	T	0.41834	0.1176	L	0.56769	1.78	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.66847	0.938;0.947	T	0.06807	-1.0806	10	0.22706	T	0.39	-16.6225	18.7991	0.92008	0.0:0.0:1.0:0.0	.	230;186	Q9Y236-2;Q9Y236	.;OSGI2_HUMAN	I	186;230	ENSP00000297438:M186I;ENSP00000396445:M230I	ENSP00000297438:M186I	M	+	3	0	OSGIN2	91005975	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.971000	0.88012	2.462000	0.83206	0.555000	0.69702	ATG		PASS	0.343	OSGIN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375691.1	NM_004337		93	140	93	140	---	---	---	---
PTDSS1	9791	broad.mit.edu	37	8	97321829	97321829	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr8:97321829G>C	ENST00000517309.1	+	9	1378	c.1052G>C	c.(1051-1053)gGa>gCa	p.G351A	Y_RNA_ENST00000362862.1_RNA|PTDSS1_ENST00000522072.1_Missense_Mutation_p.G148A|PTDSS1_ENST00000455950.2_Missense_Mutation_p.G205A	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	351					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)	p.G351A(1)		endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	AAGCGCGTAGGAACACAATGC	0.428																																						uc003yht.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1051-1053)GGA>GCA		phosphatidylserine synthase 1	Phosphatidylserine(DB00144)						99.0	91.0	94.0					8																	97321829		2203	4300	6503	SO:0001583	missense	9791				phosphatidylserine biosynthetic process	integral to membrane	transferase activity	g.chr8:97321829G>C	D14694	CCDS6271.1	8q22	2008-05-02			ENSG00000156471	ENSG00000156471			9587	protein-coding gene	gene with protein product		612792					Standard	NM_014754		Approved	KIAA0024, PSSA, PSS1	uc003yht.1	P48651	OTTHUMG00000164687	ENST00000517309.1:c.1052G>C	8.37:g.97321829G>C	ENSP00000430548:p.Gly351Ala					PTDSS1_uc003yhu.1_Missense_Mutation_p.G205A	p.G351A	NM_014754	NP_055569	P48651	PTSS1_HUMAN			9	1154	+	Breast(36;6.18e-05)		351					E5RFC5|Q9BUQ5	Missense_Mutation	SNP	ENST00000517309.1	37	c.1052G>C	CCDS6271.1	.	.	.	.	.	.	.	.	.	.	G	33	5.246589	0.95305	.	.	ENSG00000156471	ENST00000517309;ENST00000455950;ENST00000522072	T;T;T	0.68025	-0.3;-0.12;-0.27	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	D	0.86883	0.6040	M	0.94101	3.495	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89274	0.3607	10	0.62326	D	0.03	-14.6411	18.224	0.89911	0.0:0.0:1.0:0.0	.	351	P48651	PTSS1_HUMAN	A	351;205;148	ENSP00000430548:G351A;ENSP00000401248:G205A;ENSP00000430928:G148A	ENSP00000401248:G205A	G	+	2	0	PTDSS1	97391005	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	9.837000	0.99465	2.731000	0.93534	0.650000	0.86243	GGA		PASS	0.428	PTDSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379743.2			18	95	18	95	---	---	---	---
RIMS2	9699	broad.mit.edu	37	8	105257246	105257246	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr8:105257246C>G	ENST00000436393.2	+	24	3732	c.3491C>G	c.(3490-3492)tCt>tGt	p.S1164C	RIMS2_ENST00000339750.2_Missense_Mutation_p.S82C|RIMS2_ENST00000262231.10_Missense_Mutation_p.S985C|RIMS2_ENST00000406091.3_Missense_Mutation_p.S1146C|RIMS2_ENST00000507740.1_Missense_Mutation_p.S960C			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1208					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)	p.S960C(2)|p.S1146C(1)|p.S1164C(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AGCCGAGAGTCTACAGATGGT	0.507										HNSCC(12;0.0054)																												uc003yls.2																			4	Substitution - Missense(4)		lung(4)	ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15						c.(3490-3492)TCT>TGT		regulating synaptic membrane exocytosis 2							114.0	123.0	120.0					8																	105257246		2104	4221	6325	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:105257246C>G	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.3491C>G	8.37:g.105257246C>G	ENSP00000390665:p.Ser1164Cys	HNSCC(12;0.0054)				RIMS2_uc003ylp.2_Missense_Mutation_p.S1146C|RIMS2_uc003ylw.2_Missense_Mutation_p.S1153C|RIMS2_uc003ylq.2_Missense_Mutation_p.S960C|RIMS2_uc003ylr.2_Missense_Mutation_p.S985C	p.S1164C	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		24	3732	+			1208					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37	c.3491C>G		.	.	.	.	.	.	.	.	.	.	C	19.09	3.760074	0.69763	.	.	ENSG00000176406	ENST00000329869;ENST00000406091;ENST00000402998;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393;ENST00000523362;ENST00000339750	T;T;T;T;T;T;T	0.22945	2.3;2.0;2.05;1.94;2.42;1.94;1.93	4.87	4.87	0.63330	.	.	.	.	.	T	0.48804	0.1520	L	0.60067	1.865	0.80722	D	1	D;D;D;D;D	0.69078	0.997;0.993;0.974;0.99;0.995	D;P;D;P;P	0.73708	0.981;0.72;0.976;0.726;0.847	T	0.50355	-0.8838	9	0.87932	D	0	.	18.1901	0.89804	0.0:1.0:0.0:0.0	.	1208;1164;985;960;1146	Q9UQ26;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.	C	1183;1146;1208;985;960;1153;1164;82;82	ENSP00000384892:S1146C;ENSP00000262231:S985C;ENSP00000423559:S960C;ENSP00000386228:S1153C;ENSP00000390665:S1164C;ENSP00000428478:S82C;ENSP00000342051:S82C	ENSP00000262231:S985C	S	+	2	0	RIMS2	105326422	1.000000	0.71417	0.390000	0.26220	0.894000	0.52154	5.868000	0.69605	2.521000	0.84997	0.650000	0.86243	TCT		PASS	0.507	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		196	150	196	150	---	---	---	---
PKHD1L1	93035	broad.mit.edu	37	8	110476933	110476933	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr8:110476933G>T	ENST00000378402.5	+	49	7976	c.7872G>T	c.(7870-7872)atG>atT	p.M2624I		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2624					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.M2626I(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GGTTTGGAATGTGGATCTTTG	0.403										HNSCC(38;0.096)																												uc003yne.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(7870-7872)ATG>ATT		fibrocystin L precursor							142.0	139.0	140.0					8																	110476933		1862	4109	5971	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110476933G>T	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.7872G>T	8.37:g.110476933G>T	ENSP00000367655:p.Met2624Ile	HNSCC(38;0.096)					p.M2624I	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		49	7976	+			2624			Extracellular (Potential).		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.7872G>T	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	4.298	0.054571	0.08291	.	.	ENSG00000205038	ENST00000378402	T	0.79845	-1.31	5.79	-6.25	0.02039	Pectin lyase fold/virulence factor (1);	0.699247	0.13048	N	0.417958	T	0.44603	0.1301	N	0.01679	-0.765	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.42015	-0.9476	10	0.23302	T	0.38	.	3.8675	0.09022	0.4824:0.2848:0.1365:0.0963	.	2624	Q86WI1	PKHL1_HUMAN	I	2624	ENSP00000367655:M2624I	ENSP00000367655:M2624I	M	+	3	0	PKHD1L1	110546109	0.020000	0.18652	0.044000	0.18714	0.990000	0.78478	-1.191000	0.03055	-1.617000	0.01570	-0.136000	0.14681	ATG		PASS	0.403	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		251	302	251	302	---	---	---	---
ZC3H3	23144	broad.mit.edu	37	8	144522215	144522215	+	Silent	SNP	G	G	A			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr8:144522215G>A	ENST00000262577.5	-	11	2842	c.2811C>T	c.(2809-2811)gaC>gaT	p.D937D		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	937					mRNA polyadenylation (GO:0006378)|poly(A)+ mRNA export from nucleus (GO:0016973)|regulation of mRNA export from nucleus (GO:0010793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.D937D(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			GCCTACCTGAGTCCTTGGTGA	0.716																																						uc003yyd.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(2809-2811)GAC>GAT		zinc finger CCCH-type containing 3							6.0	7.0	6.0					8																	144522215		2130	4193	6323	SO:0001819	synonymous_variant	23144				mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding	g.chr8:144522215G>A	D63484	CCDS6402.1	8q24.3	2012-07-05	2005-06-02	2005-06-02	ENSG00000014164	ENSG00000014164		"""Zinc fingers, CCCH-type domain containing"""	28972	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 3"""	ZC3HDC3		8590280	Standard	NM_015117		Approved	KIAA0150	uc003yyd.2	Q8IXZ2	OTTHUMG00000165127	ENST00000262577.5:c.2811C>T	8.37:g.144522215G>A							p.D937D	NM_015117	NP_055932	Q8IXZ2	ZC3H3_HUMAN	Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)		11	2840	-	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		937					Q14163|Q8N4E2|Q9BUS4	Silent	SNP	ENST00000262577.5	37	c.2811C>T	CCDS6402.1																																																																																				PASS	0.716	ZC3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382011.2	NM_015117		8	10	8	10	---	---	---	---
EPPK1	83481	broad.mit.edu	37	8	144943414	144943414	+	Silent	SNP	G	G	C			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr8:144943414G>C	ENST00000525985.1	-	2	4079	c.4008C>G	c.(4006-4008)ctC>ctG	p.L1336L				P58107	EPIPL_HUMAN	epiplakin 1	1336						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)	p.L1336L(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCCACAGAGAGAGGGAGGCCC	0.687																																						uc003zaa.1																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)|skin(1)	2						c.(4006-4008)CTC>CTG		epiplakin 1							28.0	33.0	31.0					8																	144943414		1913	4099	6012	SO:0001819	synonymous_variant	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144943414G>C	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.4008C>G	8.37:g.144943414G>C							p.L1336L	NM_031308	NP_112598	P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		1	4021	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1336			Plectin 23.		Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37	c.4008C>G																																																																																					PASS	0.687	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		38	167	38	167	---	---	---	---
EPPK1	83481	broad.mit.edu	37	8	144944503	144944503	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr8:144944503G>C	ENST00000525985.1	-	2	2990	c.2919C>G	c.(2917-2919)atC>atG	p.I973M				P58107	EPIPL_HUMAN	epiplakin 1	973						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)	p.I973M(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GAGGGTCCATGATGGTTCCGG	0.701																																						uc003zaa.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(2917-2919)ATC>ATG		epiplakin 1							7.0	8.0	8.0					8																	144944503		1933	4107	6040	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144944503G>C	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.2919C>G	8.37:g.144944503G>C	ENSP00000436337:p.Ile973Met						p.I973M	NM_031308	NP_112598	P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		1	2932	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		973			Plectin 18.		Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.2919C>G		.	.	.	.	.	.	.	.	.	.	G	6.464	0.453770	0.12283	.	.	ENSG00000227184	ENST00000525985	D	0.82081	-1.57	4.7	-3.75	0.04372	.	.	.	.	.	T	0.74884	0.3775	M	0.64080	1.96	0.09310	N	1	P	0.34462	0.454	B	0.31016	0.123	T	0.62567	-0.6827	9	0.59425	D	0.04	.	6.0142	0.19592	0.3118:0.3451:0.3431:0.0	.	973	E9PPU0	.	M	973	ENSP00000436337:I973M	ENSP00000436337:I973M	I	-	3	3	EPPK1	145016491	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-1.379000	0.02554	-1.170000	0.02769	-1.876000	0.00548	ATC		PASS	0.701	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		7	19	7	19	---	---	---	---
TONSL	4796	broad.mit.edu	37	8	145663860	145663860	+	Silent	SNP	C	C	T			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr8:145663860C>T	ENST00000409379.3	-	13	1676	c.1647G>A	c.(1645-1647)gtG>gtA	p.V549V	AC084125.4_ENST00000442850.1_RNA|AC084125.4_ENST00000544423.1_RNA	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	549					cytoplasmic sequestering of transcription factor (GO:0042994)|double-strand break repair via homologous recombination (GO:0000724)|regulation of RNA biosynthetic process (GO:2001141)|replication fork processing (GO:0031297)	cytoplasm (GO:0005737)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)	p.V390V(1)|p.V549V(1)		biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						CCACCTGCCTCACAAGGTCCT	0.642																																						uc011llg.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(1645-1647)GTG>GTA		NF-kappa-B inhibitor-like protein 2							37.0	38.0	38.0					8																	145663860		2203	4299	6502	SO:0001819	synonymous_variant	4796				cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity	g.chr8:145663860C>T		CCDS34968.2	8q24.3	2013-01-10	2010-12-02	2010-11-30	ENSG00000160949	ENSG00000160949		"""Ankyrin repeat domain containing"""	7801	protein-coding gene	gene with protein product		604546	"""nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 2"""	NFKBIL2		7738005, 11246458	Standard	NM_013432		Approved	IKBR	uc011llg.2	Q96HA7	OTTHUMG00000153122	ENST00000409379.3:c.1647G>A	8.37:g.145663860C>T						uc011llh.1_Intron	p.V549V	NM_013432	NP_038460	Q96HA7	TONSL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)		13	1662	-	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		549			ANK 1.		B5MDP0|C9JKB1|C9JNV8|Q13006|Q9UGJ2	Silent	SNP	ENST00000409379.3	37	c.1647G>A	CCDS34968.2																																																																																				PASS	0.642	TONSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329668.2	NM_013432		38	149	38	149	---	---	---	---
KANK1	23189	broad.mit.edu	37	9	712577	712577	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr9:712577G>A	ENST00000382303.1	+	7	2463	c.1811G>A	c.(1810-1812)aGc>aAc	p.S604N	KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382297.2_Missense_Mutation_p.S604N|KANK1_ENST00000382293.3_Missense_Mutation_p.S446N	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	604					negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)	p.S604N(1)|p.S446N(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		GAAACAGGCAGCAACACAGAG	0.498																																						uc003zgl.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(1810-1812)AGC>AAC		KN motif and ankyrin repeat domains 1 isoform a							195.0	170.0	179.0					9																	712577		2203	4300	6503	SO:0001583	missense	23189				negative regulation of actin filament polymerization	cytoplasm		g.chr9:712577G>A	AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	19309	protein-coding gene	gene with protein product		607704	"""ankyrin repeat domain 15"""	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.1811G>A	9.37:g.712577G>A	ENSP00000371740:p.Ser604Asn					KANK1_uc003zgm.2_Missense_Mutation_p.S604N|KANK1_uc003zgn.1_Missense_Mutation_p.S604N|KANK1_uc003zgo.1_Missense_Mutation_p.S604N|KANK1_uc003zgp.1_Missense_Mutation_p.S604N|KANK1_uc003zgq.2_Missense_Mutation_p.S446N|KANK1_uc003zgr.1_Missense_Mutation_p.S446N|KANK1_uc003zgs.1_Missense_Mutation_p.S446N	p.S604N	NM_015158	NP_055973	Q14678	KANK1_HUMAN		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)	7	2460	+		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)	604					A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Missense_Mutation	SNP	ENST00000382303.1	37	c.1811G>A	CCDS34976.1	.	.	.	.	.	.	.	.	.	.	G	14.01	2.406448	0.42715	.	.	ENSG00000107104	ENST00000382303;ENST00000354485;ENST00000382297;ENST00000382293	T;T;T	0.79653	-1.29;-1.29;-1.29	5.96	5.96	0.96718	.	0.084429	0.51477	D	0.000086	T	0.76292	0.3967	L	0.54323	1.7	0.80722	D	1	P;P	0.40638	0.725;0.565	B;B	0.38562	0.26;0.276	T	0.75056	-0.3452	10	0.34782	T	0.22	-17.5898	13.1398	0.59428	0.0:0.0:0.7408:0.2592	.	604;604	Q5W0W1;Q14678	.;KANK1_HUMAN	N	604;604;604;446	ENSP00000371740:S604N;ENSP00000371734:S604N;ENSP00000371730:S446N	ENSP00000346479:S604N	S	+	2	0	KANK1	702577	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.906000	0.56340	2.831000	0.97527	0.650000	0.86243	AGC		PASS	0.498	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051484.2	NM_015158		48	222	48	222	---	---	---	---
AKNA	80709	broad.mit.edu	37	9	117113193	117113193	+	Missense_Mutation	SNP	G	G	A	rs139913868	byFrequency	TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr9:117113193G>A	ENST00000307564.4	-	15	3328	c.3167C>T	c.(3166-3168)cCc>cTc	p.P1056L	AKNA_ENST00000374088.3_Missense_Mutation_p.P1056L|AKNA_ENST00000374075.5_Missense_Mutation_p.P975L|AKNA_ENST00000374079.4_5'Flank|AKNA_ENST00000223791.3_Missense_Mutation_p.P516L	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	1056					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.P1056L(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						TGGTCCACAGGGTAGAGGCGC	0.587																																						uc004biq.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(2)	6						c.(3166-3168)CCC>CTC		AT-hook transcription factor							70.0	71.0	71.0					9																	117113193		2203	4300	6503	SO:0001583	missense	80709				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr9:117113193G>A	AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948			24108	protein-coding gene	gene with protein product		605729				11268217, 11853319	Standard	NM_030767		Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.3167C>T	9.37:g.117113193G>A	ENSP00000303769:p.Pro1056Leu					AKNA_uc004bin.3_Missense_Mutation_p.P303L|AKNA_uc004bio.3_Missense_Mutation_p.P516L|AKNA_uc004bip.3_Missense_Mutation_p.P975L|AKNA_uc004bir.3_Missense_Mutation_p.P1056L|AKNA_uc004bis.3_Missense_Mutation_p.P1056L|AKNA_uc010mve.2_Missense_Mutation_p.P937L|AKNA_uc004bit.1_RNA	p.P1056L	NM_030767	NP_110394	Q7Z591	AKNA_HUMAN			14	3302	-			1056					Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Missense_Mutation	SNP	ENST00000307564.4	37	c.3167C>T	CCDS6805.1	.	.	.	.	.	.	.	.	.	.	G	13.68	2.308972	0.40895	.	.	ENSG00000106948	ENST00000307564;ENST00000320310;ENST00000374088;ENST00000223791;ENST00000374075	T;T;T;T	0.16073	2.59;2.59;2.37;2.59	4.11	3.22	0.36961	.	0.702310	0.13004	N	0.421404	T	0.22551	0.0544	L	0.52573	1.65	0.19300	N	0.99998	P;D	0.57257	0.931;0.979	P;P	0.51615	0.476;0.675	T	0.06770	-1.0808	10	0.32370	T	0.25	-8.9462	7.9384	0.29944	0.1103:0.0:0.8897:0.0	.	1056;975	Q7Z591;Q7Z591-2	AKNA_HUMAN;.	L	1056;68;1056;516;975	ENSP00000303769:P1056L;ENSP00000363201:P1056L;ENSP00000223791:P516L;ENSP00000363188:P975L	ENSP00000223791:P516L	P	-	2	0	AKNA	116153014	0.082000	0.21442	0.003000	0.11579	0.015000	0.08874	3.817000	0.55668	1.337000	0.45525	0.563000	0.77884	CCC		PASS	0.587	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053767.2	NM_030767		125	81	125	81	---	---	---	---
CIZ1	25792	broad.mit.edu	37	9	130931780	130931780	+	Nonsense_Mutation	SNP	G	G	A			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr9:130931780G>A	ENST00000393608.1	-	13	2252	c.2050C>T	c.(2050-2052)Cga>Tga	p.R684*	CIZ1_ENST00000538431.1_Nonsense_Mutation_p.R710*|CIZ1_ENST00000476727.2_5'UTR|CIZ1_ENST00000372938.5_Nonsense_Mutation_p.R684*|CIZ1_ENST00000357558.5_Nonsense_Mutation_p.R656*|CIZ1_ENST00000325721.8_Nonsense_Mutation_p.R655*|CIZ1_ENST00000541172.1_Nonsense_Mutation_p.R583*|CIZ1_ENST00000372954.1_Nonsense_Mutation_p.R604*|CIZ1_ENST00000372948.3_Nonsense_Mutation_p.R628*|CIZ1_ENST00000277465.4_Nonsense_Mutation_p.R656*	NM_012127.2	NP_036259.2	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	684					maintenance of protein location in nucleus (GO:0051457)|positive regulation of DNA-dependent DNA replication initiation (GO:0032298)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.R684*(2)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						CAGAAGGGTCGCAAGGATTGT	0.567																																						uc004btt.2																			2	Substitution - Nonsense(2)		large_intestine(1)|lung(1)	ovary(2)|central_nervous_system(2)	4						c.(2050-2052)CGA>TGA		CDKN1A interacting zinc finger protein 1 isoform							106.0	96.0	100.0					9																	130931780		2203	4300	6503	SO:0001587	stop_gained	25792					nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr9:130931780G>A	AB030835	CCDS6894.1, CCDS48033.1, CCDS48034.1, CCDS75910.1	9q34.1	2012-10-05			ENSG00000148337	ENSG00000148337			16744	protein-coding gene	gene with protein product		611420				10529385	Standard	NM_001131015		Approved	LSFR1, ZNF356	uc011mas.2	Q9ULV3	OTTHUMG00000020735	ENST00000393608.1:c.2050C>T	9.37:g.130931780G>A	ENSP00000377232:p.Arg684*					CIZ1_uc004btr.2_Nonsense_Mutation_p.R656*|CIZ1_uc004bts.2_Nonsense_Mutation_p.R655*|CIZ1_uc011maq.1_Nonsense_Mutation_p.R623*|CIZ1_uc004btu.2_Nonsense_Mutation_p.R604*|CIZ1_uc011mar.1_Nonsense_Mutation_p.R583*|CIZ1_uc011mas.1_Nonsense_Mutation_p.R740*|CIZ1_uc004btw.2_Nonsense_Mutation_p.R628*|CIZ1_uc004btv.2_Nonsense_Mutation_p.R684*	p.R684*	NM_001131016	NP_001124488	Q9ULV3	CIZ1_HUMAN			13	2213	-			684					A8K9J8|B4E131|B7ZAS8|Q5SYW3|Q5SYW5|Q8WU72|Q9H868|Q9NYM8|Q9UHK4|Q9Y3F9|Q9Y3G0	Nonsense_Mutation	SNP	ENST00000393608.1	37	c.2050C>T	CCDS6894.1	.	.	.	.	.	.	.	.	.	.	G	40	8.351770	0.98772	.	.	ENSG00000148337	ENST00000372954;ENST00000393608;ENST00000538431;ENST00000357558;ENST00000325721;ENST00000537314;ENST00000541172;ENST00000277465;ENST00000372948;ENST00000372938;ENST00000415526	.	.	.	5.34	2.01	0.26516	.	0.000000	0.38548	N	0.001650	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-18.3476	14.4788	0.67564	0.0:0.0:0.4026:0.5974	.	.	.	.	X	604;684;710;656;655;623;583;656;628;684;606	.	.	R	-	1	2	CIZ1	129971601	1.000000	0.71417	0.997000	0.53966	0.866000	0.49608	1.560000	0.36331	0.148000	0.19059	0.462000	0.41574	CGA		PASS	0.567	CIZ1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054399.1	NM_012127		60	31	60	31	---	---	---	---
MED22	6837	broad.mit.edu	37	9	136208458	136208458	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr9:136208458G>A	ENST00000491289.1	-	5	1081	c.500C>T	c.(499-501)tCg>tTg	p.S167L	MED22_ENST00000471524.1_5'Flank|MED22_ENST00000476080.1_3'UTR|MED22_ENST00000343730.5_Missense_Mutation_p.S167L|MED22_ENST00000344469.5_3'UTR			Q15528	MED22_HUMAN	mediator complex subunit 22	167						cytoplasm (GO:0005737)|mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.S167L(2)		endometrium(1)|large_intestine(1)|ovary(1)|urinary_tract(1)	4				OV - Ovarian serous cystadenocarcinoma(145;1.14e-06)|Epithelial(140;8.2e-06)|all cancers(34;6.94e-05)		CAGAGGGGCCGAGAGGCCATC	0.657																																						uc004cdc.2																			2	Substitution - Missense(2)		lung(1)|breast(1)	ovary(1)	1						c.(499-501)TCG>TTG		mediator complex subunit 22 isoform b							42.0	44.0	43.0					9																	136208458		2203	4300	6503	SO:0001583	missense	6837				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|mediator complex|soluble fraction	protein binding	g.chr9:136208458G>A		CCDS6963.1, CCDS6964.1	9q34.1	2008-02-05	2007-07-30	2007-07-30	ENSG00000148297	ENSG00000148297			11477	protein-coding gene	gene with protein product		185641	"""surfeit 5"""	SURF5		8499913, 15175163	Standard	NM_133640		Approved	Med24	uc004cdc.3	Q15528	OTTHUMG00000020869	ENST00000491289.1:c.500C>T	9.37:g.136208458G>A	ENSP00000420393:p.Ser167Leu					MED22_uc004cdd.2_3'UTR	p.S167L	NM_133640	NP_598395	Q15528	MED22_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.14e-06)|Epithelial(140;8.2e-06)|all cancers(34;6.94e-05)	5	734	-			167					B3KW83|B3KWX4|O76072|Q5T8U0	Missense_Mutation	SNP	ENST00000491289.1	37	c.500C>T	CCDS6963.1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.197614	0.38806	.	.	ENSG00000148297	ENST00000491289;ENST00000343730	.	.	.	4.56	2.73	0.32206	.	0.129140	0.53938	D	0.000047	T	0.28632	0.0709	L	0.29908	0.895	0.27040	N	0.964046	B	0.20261	0.043	B	0.12156	0.007	T	0.23511	-1.0186	9	0.87932	D	0	-0.0601	8.0388	0.30508	0.1856:0.0:0.8144:0.0	.	167	Q15528	MED22_HUMAN	L	167	.	ENSP00000342343:S167L	S	-	2	0	MED22	135198279	1.000000	0.71417	0.128000	0.21923	0.642000	0.38348	5.006000	0.63978	0.550000	0.28991	0.563000	0.77884	TCG		PASS	0.657	MED22-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054898.2	NM_133640		16	45	16	45	---	---	---	---
ANAPC2	29882	broad.mit.edu	37	9	140076197	140076197	+	Silent	SNP	C	C	T			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr9:140076197C>T	ENST00000323927.2	-	7	1408	c.1404G>A	c.(1402-1404)caG>caA	p.Q468Q		NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	468					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)		p.Q468Q(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		CCTCACTGTCCTGGCCTGTCT	0.647																																						uc004clr.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1402-1404)CAG>CAA		anaphase-promoting complex subunit 2							61.0	55.0	57.0					9																	140076197		2202	4298	6500	SO:0001819	synonymous_variant	29882				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity	g.chr9:140076197C>T	AB037827	CCDS7033.1	9q34.3	2011-06-15			ENSG00000176248	ENSG00000176248		"""Anaphase promoting complex subunits"""	19989	protein-coding gene	gene with protein product		606946				11739784	Standard	NM_013366		Approved	APC2, KIAA1406	uc004clr.1	Q9UJX6	OTTHUMG00000020983	ENST00000323927.2:c.1404G>A	9.37:g.140076197C>T						ANAPC2_uc004clq.1_Silent_p.Q324Q	p.Q468Q	NM_013366	NP_037498	Q9UJX6	ANC2_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)	7	1477	-	all_cancers(76;0.0926)		468					Q5VSG1|Q96DG5|Q96GG4|Q9P2E1	Silent	SNP	ENST00000323927.2	37	c.1404G>A	CCDS7033.1																																																																																				PASS	0.647	ANAPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055315.1	NM_013366		30	16	30	16	---	---	---	---
PNPLA7	375775	broad.mit.edu	37	9	140396107	140396107	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr9:140396107C>T	ENST00000277531.4	-	14	1657	c.1471G>A	c.(1471-1473)Gac>Aac	p.D491N	PNPLA7_ENST00000371457.1_Missense_Mutation_p.D97N|PNPLA7_ENST00000406427.1_Missense_Mutation_p.D516N	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	491					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)	p.D491N(1)		breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		CTCACCTGGTCTCCCTGCCTT	0.622																																						uc004cnf.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1471-1473)GAC>AAC		patatin-like phospholipase domain containing 7							33.0	31.0	32.0					9																	140396107		2183	4285	6468	SO:0001583	missense	375775				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity	g.chr9:140396107C>T	AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"""Patatin-like phospholipase domain containing"""	24768	protein-coding gene	gene with protein product		612122	"""chromosome 9 open reading frame 111"""	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.1471G>A	9.37:g.140396107C>T	ENSP00000277531:p.Asp491Asn					C9orf167_uc011mew.1_Intron|PNPLA7_uc011mfa.1_Intron|PNPLA7_uc010ncj.1_Missense_Mutation_p.D516N	p.D491N	NM_152286	NP_689499	Q6ZV29	PLPL7_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)	14	1808	-	all_cancers(76;0.126)		491			cNMP 2.		B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Missense_Mutation	SNP	ENST00000277531.4	37	c.1471G>A	CCDS7045.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.147446	0.77888	.	.	ENSG00000130653	ENST00000371457;ENST00000277531;ENST00000406427;ENST00000371451;ENST00000434090	D;D;D;D	0.94613	-3.47;-3.47;-3.47;-3.47	5.2	5.2	0.72013	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.97204	0.9086	M	0.83118	2.625	0.80722	D	1	D;D	0.89917	1.0;0.994	D;D	0.69307	0.963;0.962	D	0.97380	0.9982	10	0.52906	T	0.07	-26.55	17.7149	0.88333	0.0:1.0:0.0:0.0	.	516;491	Q6ZV29-5;Q6ZV29	.;PLPL7_HUMAN	N	97;491;516;491;482	ENSP00000360512:D97N;ENSP00000277531:D491N;ENSP00000384610:D516N;ENSP00000400582:D482N	ENSP00000277531:D491N	D	-	1	0	PNPLA7	139515928	1.000000	0.71417	1.000000	0.80357	0.250000	0.25880	6.811000	0.75221	2.408000	0.81797	0.544000	0.68410	GAC		PASS	0.622	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254787.1	NM_152286		11	35	11	35	---	---	---	---
ADARB2	105	broad.mit.edu	37	10	1313259	1313259	+	Silent	SNP	G	G	A			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr10:1313259G>A	ENST00000381312.1	-	4	1408	c.1083C>T	c.(1081-1083)ttC>ttT	p.F361F		NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	361					mRNA processing (GO:0006397)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)	p.F361F(2)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		TGGAGTCTGCGAATTCCTGAA	0.612																																						uc009xhq.2																			2	Substitution - coding silent(2)		large_intestine(1)|lung(1)	large_intestine(2)|central_nervous_system(1)	3						c.(1081-1083)TTC>TTT		adenosine deaminase, RNA-specific, B2							91.0	65.0	74.0					10																	1313259		2203	4300	6503	SO:0001819	synonymous_variant	105				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding	g.chr10:1313259G>A	AF034837	CCDS7058.1	10p15.3	2013-05-20	2013-05-20		ENSG00000185736	ENSG00000185736	3.5.-.-		227	protein-coding gene	gene with protein product	"""RED2 homolog (rat)"""	602065	"""adenosine deaminase, RNA-specific, B2 (RED2 homolog rat)"", ""adenosine deaminase, RNA-specific, B2"""			9272162, 10836796	Standard	NM_018702		Approved	RED2, hRED2, ADAR3	uc009xhq.3	Q9NS39	OTTHUMG00000017543	ENST00000381312.1:c.1083C>T	10.37:g.1313259G>A							p.F361F	NM_018702	NP_061172	Q9NS39	RED2_HUMAN		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)	4	1457	-		all_epithelial(10;0.059)|Colorectal(49;0.0815)	361					B2RPJ5|Q5VUT6|Q5VW42	Silent	SNP	ENST00000381312.1	37	c.1083C>T	CCDS7058.1																																																																																				PASS	0.612	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046426.1	NM_018702		14	38	14	38	---	---	---	---
PHYH	5264	broad.mit.edu	37	10	13330438	13330438	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr10:13330438G>T	ENST00000263038.4	-	6	658	c.600C>A	c.(598-600)agC>agA	p.S200R	PHYH_ENST00000396920.3_Missense_Mutation_p.S183R|PHYH_ENST00000396913.2_Missense_Mutation_p.S100R	NM_006214.3	NP_006205.1	O14832	PAHX_HUMAN	phytanoyl-CoA 2-hydroxylase	200					cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|isoprenoid metabolic process (GO:0006720)|methyl-branched fatty acid metabolic process (GO:0097089)|small molecule metabolic process (GO:0044281)	mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	cofactor binding (GO:0048037)|electron carrier activity (GO:0009055)|L-ascorbic acid binding (GO:0031418)|metal ion binding (GO:0046872)|phytanoyl-CoA dioxygenase activity (GO:0048244)	p.S200R(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25		Ovarian(717;0.0448)			Antihemophilic Factor(DB00025)|Vitamin C(DB00126)	CGTTGTTCCGGCTGATGTGCT	0.627																																						uc001imf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(598-600)AGC>AGA		phytanoyl-CoA 2-hydroxylase isoform a precursor	Antihemophilic Factor(DB00025)|Vitamin C(DB00126)						69.0	66.0	67.0					10																	13330438		2203	4300	6503	SO:0001583	missense	5264				fatty acid alpha-oxidation|nervous system development	peroxisomal matrix	electron carrier activity|L-ascorbic acid binding|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding	g.chr10:13330438G>T		CCDS7097.1, CCDS41489.1	10p13	2010-04-27	2006-01-09		ENSG00000107537	ENSG00000107537	1.14.11.18		8940	protein-coding gene	gene with protein product	"""Refsum disease"", ""phytanoyl-CoA dioxygenase"""	602026	"""phytanoyl-CoA hydroxylase (Refsum disease)"", ""phytanoyl-CoA hydroxylase"""			9326939	Standard	XM_005252469		Approved	PAHX, RD, PHYH1	uc001imf.3	O14832	OTTHUMG00000017693	ENST00000263038.4:c.600C>A	10.37:g.13330438G>T	ENSP00000263038:p.Ser200Arg					PHYH_uc001ime.2_Missense_Mutation_p.S100R|PHYH_uc001img.2_Missense_Mutation_p.S183R	p.S200R	NM_006214	NP_006205	O14832	PAHX_HUMAN			6	688	-		Ovarian(717;0.0448)	200					A8MTS8|B1ALH5	Missense_Mutation	SNP	ENST00000263038.4	37	c.600C>A	CCDS7097.1	.	.	.	.	.	.	.	.	.	.	G	10.90	1.481628	0.26598	.	.	ENSG00000107537	ENST00000396913;ENST00000263038;ENST00000396920;ENST00000453759;ENST00000479604	D;D;D;D;D	0.90385	-2.66;-2.66;-2.66;-2.66;-2.66	5.69	3.51	0.40186	.	0.331149	0.39146	N	0.001450	D	0.84397	0.5463	N	0.24115	0.695	0.09310	N	1	B;B	0.19583	0.037;0.018	B;B	0.28305	0.088;0.01	T	0.77846	-0.2436	10	0.66056	D	0.02	-29.5845	11.846	0.52385	0.2369:0.0:0.7631:0.0	.	183;200	B1ALH6;O14832	.;PAHX_HUMAN	R	100;200;183;100;202	ENSP00000380121:S100R;ENSP00000263038:S200R;ENSP00000380126:S183R;ENSP00000412525:S100R;ENSP00000420117:S202R	ENSP00000263038:S200R	S	-	3	2	PHYH	13370444	1.000000	0.71417	0.250000	0.24296	0.024000	0.10985	1.789000	0.38724	1.410000	0.46936	0.655000	0.94253	AGC		PASS	0.627	PHYH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046845.2			41	99	41	99	---	---	---	---
ITGB1	3688	broad.mit.edu	37	10	33199223	33199223	+	Missense_Mutation	SNP	C	C	T	rs200536241		TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr10:33199223C>T	ENST00000396033.2	-	14	2227	c.2092G>A	c.(2092-2094)Gac>Aac	p.D698N	ITGB1_ENST00000423113.1_Missense_Mutation_p.D698N|ITGB1_ENST00000302278.3_Missense_Mutation_p.D698N|ITGB1_ENST00000374956.4_Missense_Mutation_p.D698N	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	698					axon extension (GO:0048675)|axon guidance (GO:0007411)|B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cardiac muscle cell differentiation (GO:0055007)|cell fate specification (GO:0001708)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular calcium ion homeostasis (GO:0006874)|cellular defense response (GO:0006968)|cellular response to ionizing radiation (GO:0071479)|cellular response to mechanical stimulus (GO:0071260)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|formation of radial glial scaffolds (GO:0021943)|G1/S transition of mitotic cell cycle (GO:0000082)|germ cell migration (GO:0008354)|heterotypic cell-cell adhesion (GO:0034113)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|maternal process involved in female pregnancy (GO:0060135)|mesodermal cell differentiation (GO:0048333)|negative regulation of anoikis (GO:2000811)|negative regulation of cell projection organization (GO:0031345)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein transport within lipid bilayer (GO:0032594)|regulation of cell cycle (GO:0051726)|regulation of collagen catabolic process (GO:0010710)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of immune response (GO:0050776)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|response to transforming growth factor beta (GO:0071559)|sarcomere organization (GO:0045214)|tight junction assembly (GO:0070830)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	acrosomal vesicle (GO:0001669)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha1-beta1 complex (GO:0034665)|integrin alpha10-beta1 complex (GO:0034680)|integrin alpha11-beta1 complex (GO:0034681)|integrin alpha2-beta1 complex (GO:0034666)|integrin alpha3-beta1 complex (GO:0034667)|integrin alpha7-beta1 complex (GO:0034677)|integrin alpha8-beta1 complex (GO:0034678)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|intercalated disc (GO:0014704)|invadopodium membrane (GO:0071438)|membrane (GO:0016020)|membrane raft (GO:0045121)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|cell adhesion molecule binding (GO:0050839)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|peptide binding (GO:0042277)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|virus receptor activity (GO:0001618)	p.D698N(2)		autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)			Antithymocyte globulin(DB00098)	AACCAACAGTCGTCAACATCC	0.433																																						uc001iws.3																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(2092-2094)GAC>AAC		integrin beta 1 isoform 1A precursor							80.0	69.0	73.0					10																	33199223		2203	4296	6499	SO:0001583	missense	3688				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity	g.chr10:33199223C>T	BC020057	CCDS7174.1	10p11.2	2010-10-13			ENSG00000150093	ENSG00000150093		"""CD molecules"", ""Integrins"""	6153	protein-coding gene	gene with protein product		135630		FNRB, MSK12, MDF2		2524991	Standard	NM_033668		Approved	CD29, GPIIA	uc001iwt.4	P05556	OTTHUMG00000017928	ENST00000396033.2:c.2092G>A	10.37:g.33199223C>T	ENSP00000379350:p.Asp698Asn					ITGB1_uc001iwp.3_Missense_Mutation_p.D698N|ITGB1_uc001iwq.3_Missense_Mutation_p.D698N|ITGB1_uc001iwr.3_Missense_Mutation_p.D698N|ITGB1_uc001iwt.3_Missense_Mutation_p.D698N|ITGB1_uc001iwu.1_Missense_Mutation_p.D698N	p.D698N	NM_133376	NP_596867	P05556	ITB1_HUMAN			14	2228	-		Ovarian(717;1.34e-05)|Breast(68;0.0634)	698			Extracellular (Potential).		A8K6N2|D3DRX9|D3DRY3|D3DRY4|D3DRY5|P78466|P78467|Q13089|Q13090|Q13091|Q13212|Q14622|Q14647|Q29RW2|Q7Z3V1|Q8WUM6	Missense_Mutation	SNP	ENST00000396033.2	37	c.2092G>A	CCDS7174.1	.	.	.	.	.	.	.	.	.	.	C	14.55	2.567891	0.45798	.	.	ENSG00000150093	ENST00000396033;ENST00000423113;ENST00000302278;ENST00000374956	D;D;D;D	0.92099	-2.97;-2.97;-2.97;-2.97	5.58	5.58	0.84498	Integrin beta subunit, tail (2);	0.000000	0.85682	D	0.000000	D	0.96408	0.8828	M	0.85197	2.74	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.998;1.0	D;D;D;P;D	0.97110	0.999;1.0;0.999;0.842;0.999	D	0.94979	0.8124	10	0.30078	T	0.28	.	19.6323	0.95713	0.0:1.0:0.0:0.0	.	698;698;698;698;698	P05556-2;P05556;P05556-5;P05556-3;P05556-4	.;ITB1_HUMAN;.;.;.	N	698	ENSP00000379350:D698N;ENSP00000388694:D698N;ENSP00000303351:D698N;ENSP00000364094:D698N	ENSP00000303351:D698N	D	-	1	0	ITGB1	33239229	1.000000	0.71417	0.953000	0.39169	0.527000	0.34593	7.818000	0.86416	2.651000	0.90000	0.555000	0.69702	GAC		PASS	0.433	ITGB1-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047496.1	NM_002211		15	31	15	31	---	---	---	---
CTNNA3	29119	broad.mit.edu	37	10	67680201	67680201	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr10:67680201T>A	ENST00000433211.2	-	18	2749	c.2575A>T	c.(2575-2577)Att>Ttt	p.I859F	CTNNA3_ENST00000373744.4_Missense_Mutation_p.I859F|CTNNA3_ENST00000373735.1_5'UTR	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3									p.I859F(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						TCTCTTTTAATCAAGGGTTTT	0.473																																						uc009xpn.1																			2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1)	8						c.(2575-2577)ATT>TTT		catenin, alpha 3							99.0	102.0	101.0					10																	67680201		2203	4300	6503	SO:0001583	missense	29119				cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	g.chr10:67680201T>A	AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.2575A>T	10.37:g.67680201T>A	ENSP00000389714:p.Ile859Phe					CTNNA3_uc001jmw.2_Missense_Mutation_p.I859F	p.I859F	NM_001127384	NP_001120856	Q9UI47	CTNA3_HUMAN			18	2698	-			859						Missense_Mutation	SNP	ENST00000433211.2	37	c.2575A>T	CCDS7269.1	.	.	.	.	.	.	.	.	.	.	T	24.5	4.536219	0.85812	.	.	ENSG00000183230	ENST00000433211;ENST00000373744;ENST00000373735	T;T;T	0.48522	1.38;1.38;0.81	5.92	5.92	0.95590	.	0.000000	0.64402	D	0.000018	T	0.50292	0.1607	L	0.50333	1.59	0.80722	D	1	D	0.54772	0.968	P	0.50970	0.655	T	0.55231	-0.8173	10	0.87932	D	0	-20.9471	8.7861	0.34821	0.0:0.0831:0.0:0.9169	.	859	Q9UI47	CTNA3_HUMAN	F	859;859;198	ENSP00000389714:I859F;ENSP00000362849:I859F;ENSP00000362840:I198F	ENSP00000362840:I198F	I	-	1	0	CTNNA3	67350207	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.784000	0.47774	2.266000	0.75297	0.533000	0.62120	ATT		PASS	0.473	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	NM_013266		56	163	56	163	---	---	---	---
CTNNA3	29119	broad.mit.edu	37	10	68040305	68040305	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr10:68040305C>T	ENST00000433211.2	-	13	1981	c.1807G>A	c.(1807-1809)Gat>Aat	p.D603N	CTNNA3_ENST00000373744.4_Missense_Mutation_p.D603N	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3									p.D603N(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						AATTGATTATCATCCAACACA	0.338																																						uc009xpn.1																			2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1)	8						c.(1807-1809)GAT>AAT		catenin, alpha 3							158.0	150.0	153.0					10																	68040305		2203	4300	6503	SO:0001583	missense	29119				cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	g.chr10:68040305C>T	AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.1807G>A	10.37:g.68040305C>T	ENSP00000389714:p.Asp603Asn					CTNNA3_uc001jmw.2_Missense_Mutation_p.D603N	p.D603N	NM_001127384	NP_001120856	Q9UI47	CTNA3_HUMAN			13	1930	-			603						Missense_Mutation	SNP	ENST00000433211.2	37	c.1807G>A	CCDS7269.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.449159	0.84101	.	.	ENSG00000183230	ENST00000433211;ENST00000373744	T;T	0.40476	1.03;1.03	5.54	5.54	0.83059	.	0.000000	0.56097	D	0.000040	T	0.50837	0.1639	N	0.22421	0.69	0.80722	D	1	D	0.69078	0.997	D	0.77004	0.989	T	0.54050	-0.8351	10	0.72032	D	0.01	-25.1042	14.9737	0.71254	0.0:1.0:0.0:0.0	.	603	Q9UI47	CTNA3_HUMAN	N	603	ENSP00000389714:D603N;ENSP00000362849:D603N	ENSP00000362849:D603N	D	-	1	0	CTNNA3	67710311	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.360000	0.66086	2.609000	0.88269	0.655000	0.94253	GAT		PASS	0.338	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	NM_013266		20	70	20	70	---	---	---	---
DLG5	9231	broad.mit.edu	37	10	79588710	79588710	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr10:79588710G>T	ENST00000372391.2	-	13	2224	c.2219C>A	c.(2218-2220)gCt>gAt	p.A740D	DLG5_ENST00000372388.2_Missense_Mutation_p.A740D	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	740	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)	p.A740D(1)		breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			CACAGCGGCAGCATACACTCC	0.617																																						uc001jzk.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|breast(3)	8						c.(2218-2220)GCT>GAT		discs large homolog 5							71.0	56.0	61.0					10																	79588710		2203	4300	6503	SO:0001583	missense	9231				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity	g.chr10:79588710G>T	U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"""discs, large (Drosophila) homolog 5"""			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.2219C>A	10.37:g.79588710G>T	ENSP00000361467:p.Ala740Asp					DLG5_uc001jzj.2_Missense_Mutation_p.A495D|DLG5_uc009xru.1_RNA|DLG5_uc001jzl.3_Missense_Mutation_p.A344D	p.A740D	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)		13	2289	-	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		740			PDZ 2.		A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Missense_Mutation	SNP	ENST00000372391.2	37	c.2219C>A	CCDS7353.2	.	.	.	.	.	.	.	.	.	.	g	14.70	2.614263	0.46631	.	.	ENSG00000151208	ENST00000372391;ENST00000424842;ENST00000372388;ENST00000372392	T;T;T	0.42900	0.96;2.29;2.29	5.17	4.26	0.50523	PDZ/DHR/GLGF (4);	0.000000	0.36519	N	0.002556	T	0.41442	0.1159	L	0.39898	1.24	0.35154	D	0.770032	P;P;D	0.54207	0.941;0.584;0.965	P;B;P	0.53809	0.735;0.34;0.663	T	0.54463	-0.8290	10	0.72032	D	0.01	.	5.1497	0.15004	0.2894:0.0:0.7106:0.0	.	630;740;740	Q8TDM6-4;Q8TDM6;Q8TDM6-2	.;DLG5_HUMAN;.	D	740;41;740;289	ENSP00000361467:A740D;ENSP00000394797:A41D;ENSP00000361464:A740D	ENSP00000361464:A740D	A	-	2	0	DLG5	79258716	1.000000	0.71417	0.748000	0.31131	0.224000	0.24922	5.741000	0.68638	2.590000	0.87494	0.561000	0.74099	GCT		PASS	0.617	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2			13	39	13	39	---	---	---	---
FAM213A	84293	broad.mit.edu	37	10	82185670	82185670	+	Missense_Mutation	SNP	G	G	A	rs200172480		TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr10:82185670G>A	ENST00000372181.1	+	3	789	c.319G>A	c.(319-321)Gtc>Atc	p.V107I	FAM213A_ENST00000372187.5_Missense_Mutation_p.V107I|FAM213A_ENST00000372185.1_Missense_Mutation_p.V96I|FAM213A_ENST00000372188.1_Missense_Mutation_p.V107I	NM_001243778.1|NM_001243782.1	NP_001230707.1|NP_001230711.1	Q9BRX8	F213A_HUMAN	family with sequence similarity 213, member A	107	Thioredoxin fold. {ECO:0000250}.				oxidation-reduction process (GO:0055114)|regulation of osteoclast differentiation (GO:0045670)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	antioxidant activity (GO:0016209)	p.V107I(1)									CCAGCTGGGCGTCCCCCTCTA	0.517																																						uc001kcc.3																			1	Substitution - Missense(1)		lung(1)		0						c.(319-321)GTC>ATC		hypothetical protein LOC84293 precursor		G	ILE/VAL	0,4406		0,0,2203	125.0	114.0	117.0		319	-0.0	0.4	10		117	2,8598	2.2+/-6.3	0,2,4298	yes	missense	C10orf58	NM_032333.4	29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging	107/230	82185670	2,13004	2203	4300	6503	SO:0001583	missense	84293					extracellular region		g.chr10:82185670G>A	AF086462	CCDS7368.1, CCDS58089.1	10q23.1	2011-12-08	2011-12-08	2011-12-08	ENSG00000122378	ENSG00000122378			28651	protein-coding gene	gene with protein product	"""peroxiredoxin-like 2 activated in M-CSF stimulated monocytes"""		"""chromosome 10 open reading frame 58"""	C10orf58		11483580, 19951071	Standard	NM_032333		Approved	MGC4248, PAMM	uc001kce.4	Q9BRX8	OTTHUMG00000018614	ENST00000372181.1:c.319G>A	10.37:g.82185670G>A	ENSP00000361254:p.Val107Ile					C10orf58_uc001kcd.3_Missense_Mutation_p.V96I|C10orf58_uc001kce.3_Missense_Mutation_p.V107I|C10orf58_uc001kcf.3_Missense_Mutation_p.V107I	p.V107I	NM_032333	NP_115709	Q9BRX8	CJ058_HUMAN	Colorectal(32;0.229)		4	479	+			107					B2RD81|Q6UW08|Q8N2K3|Q8NBK9|Q96JR0	Missense_Mutation	SNP	ENST00000372181.1	37	c.319G>A	CCDS7368.1	.	.	.	.	.	.	.	.	.	.	G	7.384	0.629459	0.14257	0.0	2.33E-4	ENSG00000122378	ENST00000372188;ENST00000372187;ENST00000372185;ENST00000372181	T;T;T;T	0.38887	1.11;1.11;1.11;1.11	5.38	-0.0346	0.13896	.	0.166180	0.52532	N	0.000061	T	0.33089	0.0851	L	0.55743	1.74	0.47905	D	0.999541	B	0.28026	0.198	B	0.25405	0.06	T	0.09228	-1.0684	10	0.32370	T	0.25	-14.1555	10.2349	0.43277	0.3529:0.0:0.6471:0.0	.	107	Q9BRX8	PAMM_HUMAN	I	107;107;96;107	ENSP00000361262:V107I;ENSP00000361261:V107I;ENSP00000361259:V96I;ENSP00000361254:V107I	ENSP00000361254:V107I	V	+	1	0	C10orf58	82175650	0.992000	0.36948	0.443000	0.26883	0.357000	0.29423	1.973000	0.40550	-0.025000	0.13918	-0.266000	0.10368	GTC		PASS	0.517	FAM213A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049077.2			12	153	12	153	---	---	---	---
ATRNL1	26033	broad.mit.edu	37	10	116887419	116887419	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr10:116887419G>A	ENST00000355044.3	+	4	680	c.554G>A	c.(553-555)gGc>gAc	p.G185D	ATRNL1_ENST00000529665.1_3'UTR|ATRNL1_ENST00000527407.1_Missense_Mutation_p.G185D	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	185	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.G185D(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		ACTACATCTGGCTATGCACTG	0.313																																						uc001lcg.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|lung(1)|central_nervous_system(1)	7						c.(553-555)GGC>GAC		attractin-like 1 precursor							148.0	131.0	137.0					10																	116887419		2203	4299	6502	SO:0001583	missense	26033					integral to membrane	sugar binding	g.chr10:116887419G>A	AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.554G>A	10.37:g.116887419G>A	ENSP00000347152:p.Gly185Asp					ATRNL1_uc001lce.2_RNA|ATRNL1_uc001lcf.2_Missense_Mutation_p.G185D|ATRNL1_uc009xyq.2_Missense_Mutation_p.G185D	p.G185D	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)	4	940	+		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)	185			CUB.|Extracellular (Potential).		O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Missense_Mutation	SNP	ENST00000355044.3	37	c.554G>A	CCDS7592.1	.	.	.	.	.	.	.	.	.	.	G	30	5.051805	0.93793	.	.	ENSG00000107518	ENST00000526946;ENST00000355044	T;T	0.51325	0.71;0.71	5.31	5.31	0.75309	CUB (5);	0.046547	0.85682	D	0.000000	T	0.70640	0.3247	M	0.76170	2.325	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.99;0.993	T	0.73344	-0.4012	10	0.72032	D	0.01	-13.864	19.3377	0.94326	0.0:0.0:1.0:0.0	.	118;185;185	E9PL90;Q5VV63;Q5VV63-2	.;ATRN1_HUMAN;.	D	118;185	ENSP00000431423:G118D;ENSP00000347152:G185D	ENSP00000347152:G185D	G	+	2	0	ATRNL1	116877409	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.813000	0.99286	2.648000	0.89879	0.460000	0.39030	GGC		PASS	0.313	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349		5	16	5	16	---	---	---	---
ADAM12	8038	broad.mit.edu	37	10	127760061	127760061	+	Silent	SNP	G	G	A			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr10:127760061G>A	ENST00000368679.4	-	12	1626	c.1317C>T	c.(1315-1317)gaC>gaT	p.D439D	ADAM12_ENST00000467145.1_5'Flank|ADAM12_ENST00000368676.4_Silent_p.D439D	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	439	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				cell adhesion (GO:0007155)|epidermal growth factor receptor signaling pathway (GO:0007173)|myoblast fusion (GO:0007520)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)	p.D439D(3)		biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		GCTCCCCACAGTCACACTCCT	0.512																																						uc001ljk.2																			3	Substitution - coding silent(3)		lung(3)	breast(4)|ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	9						c.(1315-1317)GAC>GAT		ADAM metallopeptidase domain 12 isoform 1							98.0	96.0	97.0					10																	127760061		2203	4300	6503	SO:0001819	synonymous_variant	8038				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding	g.chr10:127760061G>A	AF023476	CCDS7653.1, CCDS7654.1	10q26	2008-07-29	2008-07-29		ENSG00000148848	ENSG00000148848		"""ADAM metallopeptidase domain containing"""	190	protein-coding gene	gene with protein product	"""meltrin alpha"""	602714	"""a disintegrin and metalloproteinase domain 12 (meltrin alpha)"""			9417060, 18342566	Standard	NM_003474		Approved	MCMPMltna, MLTN	uc001ljk.2	O43184	OTTHUMG00000019243	ENST00000368679.4:c.1317C>T	10.37:g.127760061G>A						ADAM12_uc010qul.1_Silent_p.D390D|ADAM12_uc001ljm.2_Silent_p.D439D|ADAM12_uc001ljn.2_Silent_p.D436D|ADAM12_uc001ljl.3_Silent_p.D436D	p.D439D	NM_003474	NP_003465	O43184	ADA12_HUMAN		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)	12	1730	-		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)	439			Extracellular (Potential).|Disintegrin.		O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	Silent	SNP	ENST00000368679.4	37	c.1317C>T	CCDS7653.1																																																																																				PASS	0.512	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050961.1			89	249	89	249	---	---	---	---
RBMXL2	27288	broad.mit.edu	37	11	7111037	7111037	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr11:7111037G>A	ENST00000306904.5	+	1	873	c.686G>A	c.(685-687)cGg>cAg	p.R229Q		NM_014469.4	NP_055284.3	O75526	RMXL2_HUMAN	RNA binding motif protein, X-linked-like 2	229	Arg/Gly/Pro-rich.					nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.R229Q(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CGCGAACCCCGGGGTTTTGCC	0.701																																						uc001mfc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(685-687)CGG>CAG		testes-specific heterogenous nuclear							14.0	16.0	15.0					11																	7111037		2186	4265	6451	SO:0001583	missense	27288					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr11:7111037G>A	AF069682	CCDS7777.1	11p15	2013-07-16				ENSG00000170748		"""RNA binding motif (RRM) containing"""	17886	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein G T"""	605444				10958650	Standard	NM_014469		Approved	HNRNPG-T, HNRPGT	uc001mfc.2	O75526		ENST00000306904.5:c.686G>A	11.37:g.7111037G>A	ENSP00000304139:p.Arg229Gln						p.R229Q	NM_014469	NP_055284	O75526	HNRGT_HUMAN		Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	873	+			229			Arg/Gly/Pro-rich.		Q6PEZ2|Q9NQU0	Missense_Mutation	SNP	ENST00000306904.5	37	c.686G>A	CCDS7777.1	.	.	.	.	.	.	.	.	.	.	G	18.14	3.556553	0.65425	.	.	ENSG00000170748	ENST00000306904	T	0.78816	-1.21	3.08	3.08	0.35506	.	0.000000	0.85682	U	0.000000	D	0.85349	0.5676	M	0.71036	2.16	0.43527	D	0.995808	D	0.89917	1.0	D	0.74023	0.982	D	0.86881	0.2042	10	0.72032	D	0.01	.	12.3749	0.55275	0.0:0.0:1.0:0.0	.	229	O75526	HNRGT_HUMAN	Q	229	ENSP00000304139:R229Q	ENSP00000304139:R229Q	R	+	2	0	RBMXL2	7067613	0.991000	0.36638	0.659000	0.29680	0.909000	0.53808	5.253000	0.65452	2.015000	0.59207	0.467000	0.42956	CGG		PASS	0.701	RBMXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384552.1	NM_014469		11	33	11	33	---	---	---	---
DCDC1	341019	broad.mit.edu	37	11	30930511	30930511	+	Silent	SNP	T	T	C			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr11:30930511T>C	ENST00000597505.1	-	27	3899	c.3900A>G	c.(3898-3900)gaA>gaG	p.E1300E	DCDC1_ENST00000406071.2_Silent_p.E35E|DCDC1_ENST00000339794.5_Silent_p.E379E			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction (GO:0035556)			p.E379E(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					CAATGTTTTCTTCTTTAATCA	0.323																																						uc001mss.1																			1	Substitution - coding silent(1)		lung(1)										Homo sapiens mRNA for KIAA1493 protein, partial cds.							96.0	92.0	93.0					11																	30930511		2202	4299	6501	SO:0001819	synonymous_variant	0							g.chr11:30930511T>C	AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000597505.1:c.3900A>G	11.37:g.30930511T>C						uc009yjk.1_Silent_p.E748E|uc009yjj.1_5'Flank								7		-								A6PVL6|B7WNX6|Q6ZU04	RNA	SNP	ENST00000597505.1	37	c.1003A>G																																																																																					PASS	0.323	DCDC1-010	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000463167.1	NM_181807		17	35	17	35	---	---	---	---
OR5L2	26338	broad.mit.edu	37	11	55595392	55595392	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr11:55595392G>C	ENST00000378397.1	+	1	698	c.698G>C	c.(697-699)aGc>aCc	p.S233T		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	233						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S233T(1)		breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				TCTGCAGAGAGCAGGCACAAA	0.493										HNSCC(27;0.073)																												uc001nhy.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(697-699)AGC>ACC		olfactory receptor, family 5, subfamily L,							180.0	152.0	161.0					11																	55595392		2200	4296	6496	SO:0001583	missense	26338				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55595392G>C	AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"""GPCR / Class A : Olfactory receptors"""	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.698G>C	11.37:g.55595392G>C	ENSP00000367650:p.Ser233Thr	HNSCC(27;0.073)					p.S233T	NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN			1	698	+		all_epithelial(135;0.208)	233			Cytoplasmic (Potential).		Q6IF66|Q96RB2	Missense_Mutation	SNP	ENST00000378397.1	37	c.698G>C	CCDS31511.1	.	.	.	.	.	.	.	.	.	.	.	4.674	0.125361	0.08931	.	.	ENSG00000205030	ENST00000378397	T	0.00099	8.73	5.24	4.33	0.51752	GPCR, rhodopsin-like superfamily (1);	0.562147	0.16268	N	0.221902	T	0.00178	0.0005	L	0.42686	1.345	0.09310	N	1	B	0.22851	0.076	B	0.30495	0.116	T	0.36939	-0.9727	10	0.87932	D	0	-6.0203	12.9385	0.58329	0.0796:0.0:0.9204:0.0	.	233	Q8NGL0	OR5L2_HUMAN	T	233	ENSP00000367650:S233T	ENSP00000367650:S233T	S	+	2	0	OR5L2	55351968	0.603000	0.26924	0.244000	0.24202	0.004000	0.04260	2.269000	0.43346	1.353000	0.45828	0.632000	0.83419	AGC		PASS	0.493	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391516.1	NM_001004739		7	226	7	226	---	---	---	---
OR5J2	282775	broad.mit.edu	37	11	55944170	55944170	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr11:55944170T>G	ENST00000312298.1	+	1	77	c.77T>G	c.(76-78)gTg>gGg	p.V26G		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	26						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V26G(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					CTAAAAGCTGTGCTTTTTGTG	0.388																																						uc010rjb.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|large_intestine(1)|breast(1)|pancreas(1)	4						c.(76-78)GTG>GGG		olfactory receptor, family 5, subfamily J,							170.0	163.0	165.0					11																	55944170		2201	4295	6496	SO:0001583	missense	282775				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55944170T>G	AB065595	CCDS31522.1	11q11	2012-08-09			ENSG00000174957	ENSG00000174957		"""GPCR / Class A : Olfactory receptors"""	19612	protein-coding gene	gene with protein product							Standard	NM_001005492		Approved		uc010rjb.2	Q8NH18	OTTHUMG00000166835	ENST00000312298.1:c.77T>G	11.37:g.55944170T>G	ENSP00000310788:p.Val26Gly						p.V26G	NM_001005492	NP_001005492	Q8NH18	OR5J2_HUMAN			1	77	+	Esophageal squamous(21;0.00693)		26			Helical; Name=1; (Potential).		Q6IEU5	Missense_Mutation	SNP	ENST00000312298.1	37	c.77T>G	CCDS31522.1	.	.	.	.	.	.	.	.	.	.	T	1.928	-0.446563	0.04572	.	.	ENSG00000174957	ENST00000312298	T	0.00450	7.36	4.32	1.79	0.24919	.	1.628360	0.03583	N	0.230428	T	0.00300	0.0009	L	0.35487	1.065	0.09310	N	1	B	0.32781	0.384	B	0.30646	0.118	T	0.43130	-0.9410	10	0.22706	T	0.39	.	5.8689	0.18793	0.0:0.0928:0.3158:0.5914	.	26	Q8NH18	OR5J2_HUMAN	G	26	ENSP00000310788:V26G	ENSP00000310788:V26G	V	+	2	0	OR5J2	55700746	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.830000	0.04410	0.606000	0.29965	0.470000	0.43359	GTG		PASS	0.388	OR5J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391544.1	NM_001005492		91	245	91	245	---	---	---	---
OR9G1	390174	broad.mit.edu	37	11	56468176	56468176	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr11:56468176G>A	ENST00000312153.1	+	1	313	c.313G>A	c.(313-315)Ggg>Agg	p.G105R		NM_001005213.1	NP_001005213.1	Q8NH87	OR9G1_HUMAN	olfactory receptor, family 9, subfamily G, member 1	105						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G105R(1)		breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						CTTCTCTGCAGGGCTGGCCTA	0.527																																						uc010rjn.1																			1	Substitution - Missense(1)		lung(1)		0						c.(313-315)GGG>AGG		olfactory receptor, family 9, subfamily G,							116.0	112.0	113.0					11																	56468176		2201	4296	6497	SO:0001583	missense	504191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56468176G>A	AB065500	CCDS31536.1	11q11	2012-08-09			ENSG00000174914	ENSG00000174914		"""GPCR / Class A : Olfactory receptors"""	15319	protein-coding gene	gene with protein product				OR9G5			Standard	NM_001005213		Approved			Q8NH87	OTTHUMG00000167112	ENST00000312153.1:c.313G>A	11.37:g.56468176G>A	ENSP00000309012:p.Gly105Arg						p.G105R	NM_001013358	NP_001013376	P0C7N8	OR9G9_HUMAN			1	313	+			105			Helical; Name=3; (Potential).		Q6IEU9|Q8NGQ0	Missense_Mutation	SNP	ENST00000312153.1	37	c.313G>A	CCDS31536.1	.	.	.	.	.	.	.	.	.	.	G	8.475	0.858405	0.17178	.	.	ENSG00000174914	ENST00000312153	T	0.02709	4.19	4.54	3.55	0.40652	GPCR, rhodopsin-like superfamily (1);	0.116008	0.39341	N	0.001399	T	0.06325	0.0163	M	0.67397	2.05	0.09310	N	1	B	0.28636	0.218	B	0.36030	0.216	T	0.11891	-1.0569	10	0.45353	T	0.12	-3.565	14.2395	0.65948	0.0:0.0:0.8505:0.1495	.	105	Q8NH87	OR9G1_HUMAN	R	105	ENSP00000309012:G105R	ENSP00000309012:G105R	G	+	1	0	OR9G1	56224752	0.000000	0.05858	0.759000	0.31340	0.420000	0.31355	-0.576000	0.05854	2.490000	0.84030	0.585000	0.79938	GGG		PASS	0.527	OR9G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393253.1	NM_001005213		19	214	19	214	---	---	---	---
OR5B12	390191	broad.mit.edu	37	11	58207516	58207516	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr11:58207516G>C	ENST00000302572.2	-	1	130	c.109C>G	c.(109-111)Ctg>Gtg	p.L37V		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	37						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L37V(1)		large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TTCCCAACCAGAGTGATGAGG	0.483																																						uc010rkh.1																			1	Substitution - Missense(1)		lung(1)		0						c.(109-111)CTG>GTG		olfactory receptor, family 5, subfamily B,							83.0	94.0	91.0					11																	58207516		2201	4295	6496	SO:0001583	missense	390191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58207516G>C	AB065851	CCDS31551.1	11q12.1	2012-08-09		2004-03-10	ENSG00000172362	ENSG00000172362		"""GPCR / Class A : Olfactory receptors"""	15432	protein-coding gene	gene with protein product				OR5B12P, OR5B16		12213199	Standard	NM_001004733		Approved	OST743	uc010rkh.2	Q96R08	OTTHUMG00000167543	ENST00000302572.2:c.109C>G	11.37:g.58207516G>C	ENSP00000306657:p.Leu37Val						p.L37V	NM_001004733	NP_001004733	Q96R08	OR5BC_HUMAN			1	109	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	37			Helical; Name=1; (Potential).		B2RNL2|Q6IEV5	Missense_Mutation	SNP	ENST00000302572.2	37	c.109C>G	CCDS31551.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.317457	0.00235	.	.	ENSG00000172362	ENST00000302572	T	0.00512	6.89	4.74	-2.87	0.05700	.	0.823286	0.09916	N	0.739075	T	0.00210	0.0006	N	0.05467	-0.045	0.09310	N	1	B	0.11235	0.004	B	0.10450	0.005	T	0.36016	-0.9765	10	0.02654	T	1	-11.5215	5.9685	0.19338	0.0669:0.3712:0.3538:0.2081	.	37	Q96R08	OR5BC_HUMAN	V	37	ENSP00000306657:L37V	ENSP00000306657:L37V	L	-	1	2	OR5B12	57964092	0.000000	0.05858	0.001000	0.08648	0.025000	0.11179	-4.073000	0.00300	-0.244000	0.09639	-0.397000	0.06425	CTG		PASS	0.483	OR5B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394987.1	NM_001004733		49	108	49	108	---	---	---	---
EEF1G	1937	broad.mit.edu	37	11	62339045	62339045	+	Silent	SNP	G	G	A			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr11:62339045G>A	ENST00000329251.4	-	4	475	c.345C>T	c.(343-345)ttC>ttT	p.F115F	MIR3654_ENST00000496634.2_3'UTR|EEF1G_ENST00000532986.1_5'UTR|EEF1G_ENST00000378019.3_Silent_p.F165F	NM_001404.4	NP_001395.1	P26641	EF1G_HUMAN	eukaryotic translation elongation factor 1 gamma	115	GST C-terminal.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to virus (GO:0009615)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	translation elongation factor activity (GO:0003746)	p.F115F(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CCAAGGTGGGGAACACCCAGG	0.587																																						uc001ntm.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(343-345)TTC>TTT		eukaryotic translation elongation factor 1							28.0	26.0	27.0					11																	62339045		1905	4122	6027	SO:0001819	synonymous_variant	1937				response to virus	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	g.chr11:62339045G>A	X63526	CCDS44626.1	11q12.3	2008-02-05			ENSG00000254772	ENSG00000254772			3213	protein-coding gene	gene with protein product		130593				1598220, 1461723	Standard	NM_001404		Approved	EF1G	uc001ntm.1	P26641	OTTHUMG00000167567	ENST00000329251.4:c.345C>T	11.37:g.62339045G>A						EEF1G_uc010rlw.1_Silent_p.F165F|EEF1G_uc001ntn.1_5'UTR	p.F115F	NM_001404	NP_001395	P26641	EF1G_HUMAN			4	491	-			115			GST C-terminal.		B4DTG2|Q6PJ62|Q6PK31|Q96CU2|Q9P196	Silent	SNP	ENST00000329251.4	37	c.345C>T	CCDS44626.1																																																																																				PASS	0.587	EEF1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395047.1	NM_001404		4	9	4	9	---	---	---	---
EEF1G	1937	broad.mit.edu	37	11	62340129	62340129	+	Missense_Mutation	SNP	G	G	C	rs368954257		TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr11:62340129G>C	ENST00000329251.4	-	2	228	c.98C>G	c.(97-99)tCc>tGc	p.S33C	MIR3654_ENST00000496634.2_3'UTR|EEF1G_ENST00000532986.1_5'UTR|EEF1G_ENST00000378019.3_Missense_Mutation_p.S83C	NM_001404.4	NP_001395.1	P26641	EF1G_HUMAN	eukaryotic translation elongation factor 1 gamma	33	GST N-terminal.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to virus (GO:0009615)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	translation elongation factor activity (GO:0003746)	p.S33C(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GGGTGGTGCGGAGAGCACGCG	0.567																																						uc001ntm.1																			1	Substitution - Missense(1)		lung(1)		0						c.(97-99)TCC>TGC		eukaryotic translation elongation factor 1		G	CYS/SER	1,3861		0,1,1930	73.0	78.0	76.0		98	4.4	1.0	11		76	0,8258		0,0,4129	no	missense	EEF1G	NM_001404.4	112	0,1,6059	CC,CG,GG		0.0,0.0259,0.0083	benign	33/438	62340129	1,12119	1931	4129	6060	SO:0001583	missense	1937				response to virus	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	g.chr11:62340129G>C	X63526	CCDS44626.1	11q12.3	2008-02-05			ENSG00000254772	ENSG00000254772			3213	protein-coding gene	gene with protein product		130593				1598220, 1461723	Standard	NM_001404		Approved	EF1G	uc001ntm.1	P26641	OTTHUMG00000167567	ENST00000329251.4:c.98C>G	11.37:g.62340129G>C	ENSP00000331901:p.Ser33Cys					EEF1G_uc010rlw.1_Missense_Mutation_p.S83C|EEF1G_uc001ntn.1_5'UTR	p.S33C	NM_001404	NP_001395	P26641	EF1G_HUMAN			2	244	-			33			GST N-terminal.		B4DTG2|Q6PJ62|Q6PK31|Q96CU2|Q9P196	Missense_Mutation	SNP	ENST00000329251.4	37	c.98C>G	CCDS44626.1	.	.	.	.	.	.	.	.	.	.	G	15.94	2.981925	0.53827	2.59E-4	0.0	ENSG00000254772	ENST00000329251;ENST00000378019	T;T	0.25250	1.84;1.81	4.37	4.37	0.52481	Glutathione S-transferase, N-terminal (2);Thioredoxin-like fold (2);	0.133940	0.48767	D	0.000164	T	0.27098	0.0664	L	0.46157	1.445	0.48395	D	0.999649	B;B	0.30542	0.284;0.097	B;B	0.33568	0.166;0.111	T	0.11616	-1.0580	10	0.56958	D	0.05	.	14.7942	0.69865	0.0:0.0:1.0:0.0	.	83;33	B4DTG2;P26641	.;EF1G_HUMAN	C	33;83	ENSP00000331901:S33C;ENSP00000367258:S83C	ENSP00000331901:S33C	S	-	2	0	EEF1G	62096705	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.007000	0.70731	2.161000	0.67846	0.650000	0.86243	TCC		PASS	0.567	EEF1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395047.1	NM_001404		65	153	65	153	---	---	---	---
CABP2	51475	broad.mit.edu	37	11	67287587	67287587	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr11:67287587G>T	ENST00000294288.4	-	5	493	c.424C>A	c.(424-426)Ccc>Acc	p.P142T	CABP2_ENST00000353903.5_Missense_Mutation_p.P85T	NM_016366.2	NP_057450.2	Q9NPB3	CABP2_HUMAN	calcium binding protein 2	142	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P142T(1)		endometrium(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	9						AGCAGCTTGGGGCCCATCAGC	0.672																																						uc001omc.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(424-426)CCC>ACC		calcium binding protein 2 isoform 1							112.0	84.0	94.0					11																	67287587		2200	4295	6495	SO:0001583	missense	51475				signal transduction	Golgi apparatus|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	g.chr11:67287587G>T	AF169154	CCDS8170.1	11q13.1	2013-01-10			ENSG00000167791	ENSG00000167791		"""EF-hand domain containing"""	1385	protein-coding gene	gene with protein product		607314				10625670	Standard	NM_016366		Approved		uc001omc.1	Q9NPB3	OTTHUMG00000168014	ENST00000294288.4:c.424C>A	11.37:g.67287587G>T	ENSP00000294288:p.Pro142Thr					CABP2_uc001omd.1_Missense_Mutation_p.P85T|CABP2_uc001ome.1_Missense_Mutation_p.P148T	p.P142T	NM_016366	NP_057450	Q9NPB3	CABP2_HUMAN			5	526	-			142			EF-hand 2.			Missense_Mutation	SNP	ENST00000294288.4	37	c.424C>A	CCDS8170.1	.	.	.	.	.	.	.	.	.	.	G	17.30	3.354180	0.61293	.	.	ENSG00000167791	ENST00000353903;ENST00000294288	T;T	0.07800	3.16;3.16	4.27	4.27	0.50696	EF-hand-like domain (1);	0.067767	0.64402	N	0.000012	T	0.11495	0.0280	L	0.31526	0.94	0.48830	D	0.999715	P;B;B	0.50443	0.935;0.201;0.088	P;B;B	0.49140	0.601;0.113;0.043	T	0.04650	-1.0936	10	0.62326	D	0.03	-16.4677	15.5329	0.75977	0.0:0.0:1.0:0.0	.	148;85;142	F1T0K2;Q9NPB3-2;Q9NPB3	.;.;CABP2_HUMAN	T	85;142	ENSP00000312037:P85T;ENSP00000294288:P142T	ENSP00000294288:P142T	P	-	1	0	CABP2	67044163	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.392000	0.97252	2.232000	0.73038	0.456000	0.33151	CCC		PASS	0.672	CABP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000397516.1			16	48	16	48	---	---	---	---
GDPD4	220032	broad.mit.edu	37	11	76956540	76956540	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr11:76956540G>T	ENST00000376217.2	-	11	1122	c.872C>A	c.(871-873)cCa>cAa	p.P291Q	GDPD4_ENST00000315938.4_Missense_Mutation_p.P291Q			Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain containing 4	291	GP-PDE.				glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|metal ion binding (GO:0046872)	p.P291Q(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						ATTGTAAAATGGCCTGAGCTA	0.378																																						uc001oyf.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(871-873)CCA>CAA		glycerophosphodiester phosphodiesterase domain							113.0	106.0	109.0					11																	76956540		2200	4292	6492	SO:0001583	missense	220032				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding	g.chr11:76956540G>T	AY326450	CCDS8249.1	11q13.5	2008-02-05			ENSG00000178795	ENSG00000178795			24849	protein-coding gene	gene with protein product							Standard	NM_182833		Approved	GDE6	uc001oyf.3	Q6W3E5	OTTHUMG00000165136	ENST00000376217.2:c.872C>A	11.37:g.76956540G>T	ENSP00000365390:p.Pro291Gln						p.P291Q	NM_182833	NP_878253	Q6W3E5	GDPD4_HUMAN			11	1123	-			291			GDPD.|Extracellular (Potential).		Q7Z5B0	Missense_Mutation	SNP	ENST00000376217.2	37	c.872C>A		.	.	.	.	.	.	.	.	.	.	G	14.32	2.501702	0.44455	.	.	ENSG00000178795	ENST00000376217;ENST00000315938	T;T	0.26957	1.7;1.7	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	T	0.59266	0.2181	M	0.91406	3.205	0.39447	D	0.967336	D	0.89917	1.0	D	0.91635	0.999	T	0.70200	-0.4937	10	0.87932	D	0	-16.8888	14.99	0.71381	0.0:0.0:1.0:0.0	.	291	Q6W3E5-2	.	Q	291	ENSP00000365390:P291Q;ENSP00000320815:P291Q	ENSP00000320815:P291Q	P	-	2	0	GDPD4	76634188	1.000000	0.71417	0.954000	0.39281	0.176000	0.22953	5.137000	0.64789	2.626000	0.88956	0.561000	0.74099	CCA		PASS	0.378	GDPD4-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382075.1	NM_182833		25	69	25	69	---	---	---	---
ACSM4	341392	broad.mit.edu	37	12	7477188	7477188	+	Silent	SNP	C	C	T			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr12:7477188C>T	ENST00000399422.4	+	11	1578	c.1530C>T	c.(1528-1530)cgC>cgT	p.R510R		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	510					acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty-acyl-CoA synthase activity (GO:0004321)|metal ion binding (GO:0046872)	p.R510R(2)		endometrium(6)|kidney(1)|lung(14)	21						ATCAAATCCGCGGAGAGGTAG	0.428																																						uc001qsx.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(1528-1530)CGC>CGT		acyl-CoA synthetase medium-chain family member 4							93.0	87.0	89.0					12																	7477188		1924	4120	6044	SO:0001819	synonymous_variant	341392				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr12:7477188C>T		CCDS44825.1	12p13.31	2008-06-12			ENSG00000215009	ENSG00000215009		"""Acyl-CoA synthetase family"""	32016	protein-coding gene	gene with protein product	"""similar to olfactory specific medium-chain acyl CoA synthetase"""	614360				17762044	Standard	NM_001080454		Approved		uc001qsx.1	P0C7M7	OTTHUMG00000154975	ENST00000399422.4:c.1530C>T	12.37:g.7477188C>T							p.R510R	NM_001080454	NP_001073923	P0C7M7	ACSM4_HUMAN			11	1530	+			510					A8MTI6	Silent	SNP	ENST00000399422.4	37	c.1530C>T	CCDS44825.1																																																																																				PASS	0.428	ACSM4-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000337866.2	NM_001080454		15	107	15	107	---	---	---	---
AICDA	57379	broad.mit.edu	37	12	8758043	8758043	+	Silent	SNP	G	G	A	rs371803016		TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr12:8758043G>A	ENST00000229335.6	-	3	298	c.195C>T	c.(193-195)atC>atT	p.I65I	AICDA_ENST00000537228.1_Silent_p.I65I	NM_020661.2	NP_065712.1	Q9GZX7	AICDA_HUMAN	activation-induced cytidine deaminase	65					B cell differentiation (GO:0030183)|cellular response to lipopolysaccharide (GO:0071222)|DNA demethylation (GO:0080111)|isotype switching (GO:0045190)|mRNA processing (GO:0006397)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|somatic diversification of immunoglobulins (GO:0016445)|somatic hypermutation of immunoglobulin genes (GO:0016446)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cytidine deaminase activity (GO:0004126)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.I65I(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16	Lung SC(5;0.184)					CCCAGTCCGAGATGTAGCGGA	0.582																																					GBM(62;896 1067 5527 26594 30137)	uc001qur.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(193-195)ATC>ATT		activation-induced cytidine deaminase		G		1,4139		0,1,2069	53.0	57.0	56.0		195	4.5	1.0	12		56	0,8454		0,0,4227	no	coding-synonymous	AICDA	NM_020661.2		0,1,6296	AA,AG,GG		0.0,0.0242,0.0079		65/199	8758043	1,12593	2070	4227	6297	SO:0001819	synonymous_variant	57379	Immune_Deficiency_with_Hyper-IgM			B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing	cytoplasm	cytidine deaminase activity|protein binding|zinc ion binding	g.chr12:8758043G>A	AB040430	CCDS41747.1	12p13	2014-09-17			ENSG00000111732	ENSG00000111732		"""Apolipoprotein B mRNA editing enzymes"""	13203	protein-coding gene	gene with protein product		605257					Standard	NM_020661		Approved	HIGM2, CDA2, ARP2, AID	uc001qur.2	Q9GZX7	OTTHUMG00000168676	ENST00000229335.6:c.195C>T	12.37:g.8758043G>A						AICDA_uc001qup.1_Silent_p.I60I|AICDA_uc001quq.1_Silent_p.I60I|AICDA_uc009zgd.1_Intron	p.I65I	NM_020661	NP_065712	Q9GZX7	AICDA_HUMAN			3	274	-	Lung SC(5;0.184)		65					Q6QJ81|Q8NFC1	Silent	SNP	ENST00000229335.6	37	c.195C>T	CCDS41747.1	.	.	.	.	.	.	.	.	.	.	G	10.65	1.411011	0.25465	2.42E-4	0.0	ENSG00000111732	ENST00000543081;ENST00000545512	.	.	.	5.43	4.53	0.55603	.	.	.	.	.	T	0.58666	0.2138	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55360	-0.8153	4	.	.	.	-32.2212	9.0059	0.36111	0.0803:0.1468:0.7729:0.0	.	.	.	.	F	64	.	.	S	-	2	0	AICDA	8649310	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	1.151000	0.31651	2.545000	0.85829	0.462000	0.41574	TCT		PASS	0.582	AICDA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400575.1	NM_020661		23	159	23	159	---	---	---	---
A2ML1	144568	broad.mit.edu	37	12	9000285	9000285	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr12:9000285C>A	ENST00000299698.7	+	15	2004	c.1824C>A	c.(1822-1824)agC>agA	p.S608R	A2ML1_ENST00000540049.1_3'UTR|A2ML1_ENST00000539547.1_Missense_Mutation_p.S117R	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1									p.S608R(1)		NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						GAGAGCTGAGCAACCGCTCTG	0.557																																						uc001quz.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1822-1824)AGC>AGA		alpha-2-macroglobulin-like 1 precursor							87.0	85.0	85.0					12																	9000285		1960	4150	6110	SO:0001583	missense	144568					extracellular space	endopeptidase inhibitor activity	g.chr12:9000285C>A	AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"""C3 and PZP-like, alpha-2-macroglobulin domain containing 9"""	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.1824C>A	12.37:g.9000285C>A	ENSP00000299698:p.Ser608Arg					A2ML1_uc001qva.1_Missense_Mutation_p.S188R|A2ML1_uc010sgm.1_Missense_Mutation_p.S108R	p.S608R	NM_144670	NP_653271	A8K2U0	A2ML1_HUMAN			15	1922	+			452						Missense_Mutation	SNP	ENST00000299698.7	37	c.1824C>A	CCDS8596.2	.	.	.	.	.	.	.	.	.	.	C	17.62	3.433733	0.62955	.	.	ENSG00000166535	ENST00000299698;ENST00000539161;ENST00000541459;ENST00000539547;ENST00000545692	T;T;T;T	0.36157	1.37;1.48;2.04;1.27	3.46	2.57	0.30868	.	0.102155	0.42294	D	0.000734	T	0.46092	0.1375	L	0.60455	1.87	0.29934	N	0.821678	D	0.58970	0.984	P	0.56088	0.791	T	0.49062	-0.8978	10	0.87932	D	0	.	10.343	0.43891	0.0:0.8981:0.0:0.1019	.	608	A8K2U0	A2ML1_HUMAN	R	608;608;158;117;120	ENSP00000299698:S608R;ENSP00000443174:S158R;ENSP00000438292:S117R;ENSP00000440057:S120R	ENSP00000299698:S608R	S	+	3	2	A2ML1	8891552	0.784000	0.28713	0.997000	0.53966	0.856000	0.48823	1.680000	0.37607	1.038000	0.40049	0.637000	0.83480	AGC		PASS	0.557	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	NM_144670		136	271	136	271	---	---	---	---
YBX3	8531	broad.mit.edu	37	12	10875467	10875467	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr12:10875467C>G	ENST00000228251.4	-	1	444	c.244G>C	c.(244-246)Gcg>Ccg	p.A82P	YBX3_ENST00000279550.7_Missense_Mutation_p.A82P	NM_003651.4	NP_003642.3	P16989	YBOX3_HUMAN	Y box binding protein 3	82					3'-UTR-mediated mRNA stabilization (GO:0070935)|cellular hyperosmotic response (GO:0071474)|cellular response to tumor necrosis factor (GO:0071356)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of necroptotic process (GO:0060546)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cytoplasmic translation (GO:2000767)|positive regulation of organ growth (GO:0046622)|response to cold (GO:0009409)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|tight junction (GO:0005923)	double-stranded DNA binding (GO:0003690)|mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|Rho GTPase binding (GO:0017048)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)	p.A82P(1)									TTTTTCTCCGCGTCTTCGCTG	0.751																																						uc001qyt.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|large_intestine(1)	4						c.(244-246)GCG>CCG		cold shock domain protein A isoform a							9.0	9.0	9.0					12																	10875467		2092	4050	6142	SO:0001583	missense	8531				negative regulation of transcription from RNA polymerase II promoter|response to cold	cytoplasm|nucleus	double-stranded DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr12:10875467C>G	L29064	CCDS8630.1, CCDS44831.1	12p13.1	2013-03-13	2013-03-13	2013-03-13	ENSG00000060138	ENSG00000060138			2428	protein-coding gene	gene with protein product	"""cold-shock domain containing A1"""	603437	"""cold shock domain protein A"""	CSDA		2977358, 8710501	Standard	NM_003651		Approved	dbpA, ZONAB, CSDA1	uc001qyt.3	P16989	OTTHUMG00000168409	ENST00000228251.4:c.244G>C	12.37:g.10875467C>G	ENSP00000228251:p.Ala82Pro					CSDA_uc001qyu.2_Missense_Mutation_p.A82P	p.A82P	NM_003651	NP_003642	P16989	DBPA_HUMAN			1	487	-	Glioma(1;0.155)		82					B2RBW6|Q14121|Q969N6|Q96B76	Missense_Mutation	SNP	ENST00000228251.4	37	c.244G>C	CCDS8630.1	.	.	.	.	.	.	.	.	.	.	C	12.90	2.075639	0.36662	.	.	ENSG00000060138	ENST00000279550;ENST00000228251	T;T	0.25250	1.81;1.86	3.11	1.12	0.20585	.	0.330424	0.21385	N	0.075420	T	0.13970	0.0338	L	0.34521	1.04	0.26798	N	0.969268	P;P	0.47604	0.898;0.837	B;B	0.39094	0.29;0.151	T	0.13737	-1.0498	10	0.48119	T	0.1	.	2.9459	0.05846	0.2761:0.5703:0.0:0.1536	.	82;82	P16989-2;P16989	.;DBPA_HUMAN	P	82	ENSP00000279550:A82P;ENSP00000228251:A82P	ENSP00000228251:A82P	A	-	1	0	CSDA	10766734	1.000000	0.71417	0.313000	0.25210	0.975000	0.68041	2.673000	0.46858	0.541000	0.28827	0.313000	0.20887	GCG		PASS	0.751	YBX3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399628.1	NM_003651		9	18	9	18	---	---	---	---
SLCO1B1	10599	broad.mit.edu	37	12	21349929	21349929	+	Nonsense_Mutation	SNP	G	G	A			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr12:21349929G>A	ENST00000256958.2	+	8	873	c.777G>A	c.(775-777)tgG>tgA	p.W259*		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	259					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.W259*(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	GAGCTTGGTGGCTTAATTTCC	0.348																																						uc001req.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1)	8						c.(775-777)TGG>TGA		solute carrier organic anion transporter family,	Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)						230.0	209.0	216.0					12																	21349929		2203	4300	6503	SO:0001587	stop_gained	10599				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity	g.chr12:21349929G>A		CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"""Solute carriers"""	10959	protein-coding gene	gene with protein product		604843	"""solute carrier family 21 (organic anion transporter), member 6"""	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.777G>A	12.37:g.21349929G>A	ENSP00000256958:p.Trp259*						p.W259*	NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN			8	881	+			259			Helical; Name=6; (Potential).		B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Nonsense_Mutation	SNP	ENST00000256958.2	37	c.777G>A	CCDS8685.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.956105	0.73902	.	.	ENSG00000134538	ENST00000256958	.	.	.	3.24	3.24	0.37175	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.7505	0.57306	0.0:0.0:1.0:0.0	.	.	.	.	X	259	.	ENSP00000256958:W259X	W	+	3	0	SLCO1B1	21241196	1.000000	0.71417	0.998000	0.56505	0.391000	0.30476	7.302000	0.78861	1.797000	0.52628	0.491000	0.48974	TGG		PASS	0.348	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402070.1	NM_006446		74	140	74	140	---	---	---	---
FMNL3	91010	broad.mit.edu	37	12	50048058	50048058	+	Missense_Mutation	SNP	C	C	A	rs373949899		TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr12:50048058C>A	ENST00000293590.5	-	11	1221	c.988G>T	c.(988-990)Gtg>Ttg	p.V330L	FMNL3_ENST00000550488.1_Missense_Mutation_p.V330L|FMNL3_ENST00000335154.5_Missense_Mutation_p.V330L|FMNL3_ENST00000352151.5_Missense_Mutation_p.V279L			Q8IVF7	FMNL3_HUMAN	formin-like 3	330	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)	GTPase activating protein binding (GO:0032794)	p.V330L(2)		breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						GAGTGCACCACGATGTTGATG	0.577																																						uc001ruv.1																			2	Substitution - Missense(2)		lung(2)	breast(2)|pancreas(2)	4						c.(988-990)GTG>TTG		formin-like 3 isoform 1							64.0	65.0	65.0					12																	50048058		2198	4300	6498	SO:0001583	missense	91010				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr12:50048058C>A	AK128195	CCDS41780.1, CCDS44874.1	12q13.12	2006-04-10							23698	protein-coding gene	gene with protein product						12684686	Standard	NM_198900		Approved	DKFZp762B245, MGC45819, WBP3	uc001ruv.1	Q8IVF7	OTTHUMG00000169651	ENST00000293590.5:c.988G>T	12.37:g.50048058C>A	ENSP00000293590:p.Val330Leu					FMNL3_uc001ruw.1_Missense_Mutation_p.V279L|FMNL3_uc001rut.1_5'Flank|FMNL3_uc001ruu.1_Missense_Mutation_p.V180L	p.V330L	NM_175736	NP_783863	Q8IVF7	FMNL3_HUMAN			11	1222	-			330			GBD/FH3.		B0JZA7|Q6ZRJ1	Missense_Mutation	SNP	ENST00000293590.5	37	c.988G>T		.	.	.	.	.	.	.	.	.	.	C	36	5.649815	0.96714	.	.	ENSG00000161791	ENST00000335154;ENST00000550488;ENST00000352151;ENST00000293590	D;D;D;D	0.83075	-1.68;-1.68;-1.68;-1.68	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	D	0.87767	0.6260	L	0.42686	1.345	0.80722	D	1	D;D	0.67145	0.996;0.984	D;D	0.77004	0.989;0.972	T	0.82955	-0.0200	10	0.20046	T	0.44	.	19.3176	0.94223	0.0:1.0:0.0:0.0	.	279;330	Q8IVF7-2;Q8IVF7-3	.;.	L	330;330;279;330	ENSP00000335655:V330L;ENSP00000447479:V330L;ENSP00000344311:V279L;ENSP00000293590:V330L	ENSP00000293590:V330L	V	-	1	0	FMNL3	48334325	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GTG		PASS	0.577	FMNL3-201	KNOWN	basic	protein_coding	protein_coding		NM_175736		37	59	37	59	---	---	---	---
FRS2	10818	broad.mit.edu	37	12	69968110	69968110	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr12:69968110T>C	ENST00000550389.1	+	7	1148	c.902T>C	c.(901-903)gTt>gCt	p.V301A	FRS2_ENST00000549921.1_Missense_Mutation_p.V301A|FRS2_ENST00000299293.2_Missense_Mutation_p.V301A|FRS2_ENST00000397997.2_Missense_Mutation_p.V301A	NM_001278353.1|NM_001278357.1	NP_001265282.1|NP_001265286.1	Q8WU20	FRS2_HUMAN	fibroblast growth factor receptor substrate 2	301					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|anterior/posterior axis specification, embryo (GO:0008595)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|gastrulation with mouth forming second (GO:0001702)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|lens fiber cell development (GO:0070307)|neuroblast proliferation (GO:0007405)|neurotrophin TRK receptor signaling pathway (GO:0048011)|optic placode formation involved in camera-type eye formation (GO:0046619)|organ induction (GO:0001759)|phosphatidylinositol-mediated signaling (GO:0048015)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|regulation of apoptotic process (GO:0042981)|regulation of epithelial cell proliferation (GO:0050678)|regulation of ERK1 and ERK2 cascade (GO:0070372)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	fibroblast growth factor receptor binding (GO:0005104)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatase activator activity (GO:0019211)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.V301A(2)		autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			GCACCCTCTGTTAACAAACTG	0.468																																						uc001suy.2																			2	Substitution - Missense(2)		lung(2)	prostate(1)|kidney(1)	2						c.(901-903)GTT>GCT		fibroblast growth factor receptor substrate 2							80.0	78.0	79.0					12																	69968110		1930	4137	6067	SO:0001583	missense	10818				activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway	endomembrane system|endosome|integral to plasma membrane|membrane fraction	fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr12:69968110T>C	AF036717	CCDS41809.1	12q15	2008-02-05				ENSG00000166225			16971	protein-coding gene	gene with protein product		607743				8761293, 9660748	Standard	NM_001278351		Approved	SNT-1, FRS2alpha, SNT1, FRS2A	uc001suz.3	Q8WU20		ENST00000550389.1:c.902T>C	12.37:g.69968110T>C	ENSP00000447241:p.Val301Ala					FRS2_uc001suz.2_Missense_Mutation_p.V301A|FRS2_uc009zrj.2_Missense_Mutation_p.V301A|FRS2_uc009zrk.2_Missense_Mutation_p.V301A	p.V301A	NM_006654	NP_006645	Q8WU20	FRS2_HUMAN	Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)		10	1412	+	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		301					B0LPF2|B2R684|O43558|Q7LDQ6	Missense_Mutation	SNP	ENST00000550389.1	37	c.902T>C	CCDS41809.1	.	.	.	.	.	.	.	.	.	.	T	5.359	0.251520	0.10130	.	.	ENSG00000166225	ENST00000299293;ENST00000549921;ENST00000550389;ENST00000397997	T;T;T;T	0.22134	1.97;1.97;1.97;1.97	5.37	1.67	0.24075	.	0.426902	0.23125	N	0.051652	T	0.08313	0.0207	N	0.08118	0	0.25892	N	0.983469	B	0.02656	0.0	B	0.01281	0.0	T	0.33163	-0.9879	9	.	.	.	-4.4432	5.8025	0.18422	0.0:0.1814:0.317:0.5016	.	301	Q8WU20	FRS2_HUMAN	A	301	ENSP00000299293:V301A;ENSP00000450048:V301A;ENSP00000447241:V301A;ENSP00000381083:V301A	.	V	+	2	0	FRS2	68254377	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.480000	0.35464	0.494000	0.27859	0.529000	0.55759	GTT		PASS	0.468	FRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403760.1	NM_006654		47	185	47	185	---	---	---	---
KCNC2	3747	broad.mit.edu	37	12	75437012	75437012	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr12:75437012T>G	ENST00000549446.1	-	5	2470	c.1790A>C	c.(1789-1791)aAa>aCa	p.K597T	KCNC2_ENST00000341669.3_Intron|RP11-81K13.1_ENST00000547040.1_RNA|KCNC2_ENST00000550433.1_Intron|KCNC2_ENST00000548513.1_Intron|KCNC2_ENST00000350228.2_Intron|RP11-81K13.1_ENST00000549762.1_RNA|KCNC2_ENST00000298972.1_Intron|KCNC2_ENST00000540018.1_Missense_Mutation_p.K542T|RP11-81K13.1_ENST00000550049.1_RNA	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	597					action potential (GO:0001508)|energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.K597T(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54					Dalfampridine(DB06637)	GCTTCGGGATTTTTCATATCC	0.428																																						uc001sxg.1																			1	Substitution - Missense(1)		lung(1)	breast(2)|pancreas(2)|skin(1)|lung(1)	6						c.(1789-1791)AAA>ACA		Shaw-related voltage-gated potassium channel							106.0	107.0	107.0					12																	75437012		2203	4300	6503	SO:0001583	missense	3747				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:75437012T>G	AF268896	CCDS9005.1, CCDS9006.1, CCDS9007.1, CCDS58255.1, CCDS58256.1, CCDS58257.1	12q14.1	2012-07-05						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6234	protein-coding gene	gene with protein product		176256				8111118, 16382104	Standard	NM_139136		Approved	Kv3.2	uc001sxg.2	Q96PR1	OTTHUMG00000169717	ENST00000549446.1:c.1790A>C	12.37:g.75437012T>G	ENSP00000449253:p.Lys597Thr					KCNC2_uc009zry.2_Intron|KCNC2_uc001sxe.2_Intron|KCNC2_uc001sxf.2_Intron|KCNC2_uc010stw.1_Missense_Mutation_p.K542T	p.K597T	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN			5	2334	-			597			Cytoplasmic (Potential).		B7Z231|F5H030|J3KPP5|Q4LE77|Q86W09|Q8N1V9|Q96PR0	Missense_Mutation	SNP	ENST00000549446.1	37	c.1790A>C	CCDS9007.1	.	.	.	.	.	.	.	.	.	.	T	14.85	2.659217	0.47467	.	.	ENSG00000166006	ENST00000549446;ENST00000540018	D;D	0.98090	-4.68;-4.71	6.17	6.17	0.99709	.	1.606270	0.03246	N	0.181156	D	0.96175	0.8753	L	0.31926	0.97	0.80722	D	1	B;B	0.24920	0.114;0.03	B;B	0.28385	0.089;0.004	T	0.73325	-0.4018	10	0.12766	T	0.61	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	542;597	F5H030;Q96PR1	.;KCNC2_HUMAN	T	597;542	ENSP00000449253:K597T;ENSP00000438423:K542T	ENSP00000438423:K542T	K	-	2	0	KCNC2	73723279	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.371000	0.80710	0.533000	0.62120	AAA		PASS	0.428	KCNC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405581.2	NM_153748		26	70	26	70	---	---	---	---
RAD9B	144715	broad.mit.edu	37	12	110950672	110950672	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr12:110950672G>C	ENST00000392672.4	+	5	576	c.477G>C	c.(475-477)atG>atC	p.M159I	RAD9B_ENST00000409246.1_Missense_Mutation_p.M87I|RAD9B_ENST00000409300.1_Missense_Mutation_p.M159I|RAD9B_ENST00000409425.1_Missense_Mutation_p.M87I|RAD9B_ENST00000433301.1_Intron|RAD9B_ENST00000409778.3_Intron	NM_152442.3	NP_689655.3	Q6WBX8	RAD9B_HUMAN	RAD9 homolog B (S. pombe)	156					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)	checkpoint clamp complex (GO:0030896)|nucleoplasm (GO:0005654)		p.M1I(1)|p.M159I(1)		endometrium(1)|large_intestine(2)|lung(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	7						ATACGCTAATGATTCAACCAA	0.333											OREG0022115	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001trf.3																			2	Substitution - Missense(2)		lung(2)	pancreas(1)|skin(1)	2						c.(475-477)ATG>ATC		RAD9 homolog B							86.0	81.0	82.0					12																	110950672		2201	4297	6498	SO:0001583	missense	144715				cell cycle checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding	g.chr12:110950672G>C		CCDS9148.2, CCDS66469.1, CCDS73526.1, CCDS73527.1	12q24.13	2008-12-15	2008-12-15		ENSG00000151164	ENSG00000151164			21700	protein-coding gene	gene with protein product		608368					Standard	NM_152442		Approved	FLJ40346	uc001trf.4	Q6WBX8	OTTHUMG00000152952	ENST00000392672.4:c.477G>C	12.37:g.110950672G>C	ENSP00000376440:p.Met159Ile		OREG0022115	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1431	RAD9B_uc001trg.3_Missense_Mutation_p.M159I|RAD9B_uc010sya.1_Intron|RAD9B_uc001tre.3_Missense_Mutation_p.M87I|RAD9B_uc001trd.3_Missense_Mutation_p.M1I	p.M159I	NM_152442	NP_689655	Q6WBX8	RAD9B_HUMAN			5	615	+			156					Q5U5K0|Q6NVJ1|Q6ZVT7|Q8N7T9|Q96LI8	Missense_Mutation	SNP	ENST00000392672.4	37	c.477G>C	CCDS9148.2	.	.	.	.	.	.	.	.	.	.	G	12.95	2.091719	0.36952	.	.	ENSG00000151164	ENST00000409246;ENST00000392672;ENST00000409300;ENST00000409425	T;T;T;T	0.21543	2.0;2.0;2.0;2.0	5.76	2.94	0.34122	.	0.481364	0.23481	N	0.047719	T	0.12689	0.0308	L	0.29908	0.895	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.09377	0.003;0.004	T	0.10706	-1.0618	10	0.15066	T	0.55	-2.2817	7.9172	0.29825	0.1485:0.1351:0.7165:0.0	.	159;156	B4DX60;Q6WBX8	.;RAD9B_HUMAN	I	87;159;159;87	ENSP00000387329:M87I;ENSP00000376440:M159I;ENSP00000386434:M159I;ENSP00000386629:M87I	ENSP00000376440:M159I	M	+	3	0	RAD9B	109435055	0.637000	0.27216	0.740000	0.30986	0.943000	0.58893	1.062000	0.30555	0.782000	0.33613	0.555000	0.69702	ATG		PASS	0.333	RAD9B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000328756.2	NM_152442		3	9	3	9	---	---	---	---
SRRM4	84530	broad.mit.edu	37	12	119419763	119419763	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr12:119419763C>A	ENST00000267260.4	+	1	464	c.76C>A	c.(76-78)Ccc>Acc	p.P26T		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	26					cell differentiation (GO:0030154)|mRNA processing (GO:0006397)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	mRNA binding (GO:0003729)	p.P26T(2)|p.P123T(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						GGTGGCCACCCCCCGTCCCGA	0.597																																						uc001txa.1																			3	Substitution - Missense(3)		lung(3)	ovary(2)	2						c.(76-78)CCC>ACC		KIAA1853 protein							25.0	29.0	28.0					12																	119419763		1949	4143	6092	SO:0001583	missense	84530				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding	g.chr12:119419763C>A	AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767			29389	protein-coding gene	gene with protein product	"""neural-specific SR-related protein of 100 kDa"""	613103	"""KIAA1853"""	KIAA1853		19737518	Standard	NM_194286		Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.76C>A	12.37:g.119419763C>A	ENSP00000267260:p.Pro26Thr						p.P26T	NM_194286	NP_919262	A7MD48	SRRM4_HUMAN			1	368	+			26					A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Missense_Mutation	SNP	ENST00000267260.4	37	c.76C>A	CCDS44994.1	.	.	.	.	.	.	.	.	.	.	C	19.50	3.840114	0.71488	.	.	ENSG00000139767	ENST00000267260	T	0.49432	0.78	4.61	4.61	0.57282	.	0.217607	0.38326	N	0.001722	T	0.60869	0.2302	L	0.38175	1.15	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	T	0.65043	-0.6264	10	0.87932	D	0	-13.1866	18.0011	0.89198	0.0:1.0:0.0:0.0	.	26	A7MD48	SRRM4_HUMAN	T	26	ENSP00000267260:P26T	ENSP00000267260:P26T	P	+	1	0	SRRM4	117904146	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.784000	0.75084	2.534000	0.85438	0.643000	0.83706	CCC		PASS	0.597	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401640.2	NM_194286		7	26	7	26	---	---	---	---
TCTN2	79867	broad.mit.edu	37	12	124163771	124163771	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr12:124163771C>T	ENST00000303372.5	+	5	627	c.499C>T	c.(499-501)Ccc>Tcc	p.P167S	TCTN2_ENST00000426174.2_Missense_Mutation_p.P166S	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	167					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)		p.P167S(1)		breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		GGTGTATCAGCCCCTTGGCCC	0.438																																						uc001ufp.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(499-501)CCC>TCC		tectonic family member 2 isoform 1							242.0	212.0	222.0					12																	124163771		2203	4300	6503	SO:0001583	missense	79867				cilium assembly|smoothened signaling pathway	integral to membrane		g.chr12:124163771C>T	AK056924	CCDS9253.1, CCDS45007.1	12q24.31	2011-04-12	2007-08-20	2007-08-20	ENSG00000168778	ENSG00000168778		"""Tectonic proteins"""	25774	protein-coding gene	gene with protein product	"""Meckel syndrome, type 8"""	613846	"""chromosome 12 open reading frame 38"""	C12orf38		21462283	Standard	NM_024809		Approved	FLJ12975, TECT2, MKS8	uc001ufp.3	Q96GX1	OTTHUMG00000168700	ENST00000303372.5:c.499C>T	12.37:g.124163771C>T	ENSP00000304941:p.Pro167Ser					TCTN2_uc009zya.2_Missense_Mutation_p.P166S	p.P167S	NM_024809	NP_079085	Q96GX1	TECT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)	5	627	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		167			Extracellular (Potential).		A8K7Y8|B3KPW5|Q9H966	Missense_Mutation	SNP	ENST00000303372.5	37	c.499C>T	CCDS9253.1	.	.	.	.	.	.	.	.	.	.	C	17.39	3.376921	0.61735	.	.	ENSG00000168778	ENST00000426174;ENST00000303372	D;D	0.83250	-1.7;-1.7	5.05	5.05	0.67936	.	0.000000	0.64402	D	0.000001	T	0.80248	0.4588	M	0.76002	2.32	0.58432	D	0.999996	P;P	0.49253	0.921;0.921	B;B	0.35182	0.197;0.197	T	0.80369	-0.1411	10	0.18710	T	0.47	-0.0354	18.4634	0.90747	0.0:1.0:0.0:0.0	.	166;167	A8K7Y8;Q96GX1	.;TECT2_HUMAN	S	166;167	ENSP00000395171:P166S;ENSP00000304941:P167S	ENSP00000304941:P167S	P	+	1	0	TCTN2	122729724	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	6.664000	0.74437	2.343000	0.79666	0.416000	0.27883	CCC		PASS	0.438	TCTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400652.1	NM_024809		103	339	103	339	---	---	---	---
DNAH10	196385	broad.mit.edu	37	12	124352116	124352116	+	Nonsense_Mutation	SNP	A	A	T			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr12:124352116A>T	ENST00000409039.3	+	41	6941	c.6916A>T	c.(6916-6918)Aag>Tag	p.K2306*		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2306					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.K2306*(1)|p.K898*(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AGAAAAGCTGAAGACAATAGT	0.398																																						uc001uft.3																			2	Substitution - Nonsense(2)		lung(2)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(6916-6918)AAG>TAG		dynein, axonemal, heavy chain 10							98.0	93.0	94.0					12																	124352116		1902	4120	6022	SO:0001587	stop_gained	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124352116A>T	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.6916A>T	12.37:g.124352116A>T	ENSP00000386770:p.Lys2306*						p.K2306*	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	41	6941	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		2306					C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Nonsense_Mutation	SNP	ENST00000409039.3	37	c.6916A>T	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	A	48	14.025028	0.99775	.	.	ENSG00000197653	ENST00000409039	.	.	.	5.18	5.18	0.71444	.	0.140999	0.46145	U	0.000316	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.0309	0.71705	1.0:0.0:0.0:0.0	.	.	.	.	X	2306	.	ENSP00000386770:K2306X	K	+	1	0	DNAH10	122918069	1.000000	0.71417	1.000000	0.80357	0.810000	0.45777	7.072000	0.76777	1.951000	0.56629	0.377000	0.23210	AAG		PASS	0.398	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			31	31	31	31	---	---	---	---
TEX26	122046	broad.mit.edu	37	13	31543082	31543082	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr13:31543082A>G	ENST00000380473.3	+	6	720	c.707A>G	c.(706-708)tAc>tGc	p.Y236C	TEX26_ENST00000530916.1_Intron	NM_152325.1	NP_689538.1	Q8N6G2	TEX26_HUMAN	testis expressed 26	236								p.Y236C(1)									CAGACCACATACCAAAGTGAC	0.443																																						uc001uti.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(706-708)TAC>TGC		hypothetical protein LOC122046							178.0	175.0	176.0					13																	31543082		2203	4300	6503	SO:0001583	missense	122046							g.chr13:31543082A>G	BC030277	CCDS9339.1	13q12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000175664	ENSG00000175664			28622	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 26"""	C13orf26		12477932	Standard	NM_152325		Approved	MGC40178	uc001uti.3	Q8N6G2	OTTHUMG00000016682	ENST00000380473.3:c.707A>G	13.37:g.31543082A>G	ENSP00000369840:p.Tyr236Cys						p.Y236C	NM_152325	NP_689538	Q8N6G2	CM026_HUMAN		all cancers(112;0.0176)|Epithelial(112;0.0768)|OV - Ovarian serous cystadenocarcinoma(117;0.0852)	6	726	+		Lung SC(185;0.0281)	236						Missense_Mutation	SNP	ENST00000380473.3	37	c.707A>G	CCDS9339.1	.	.	.	.	.	.	.	.	.	.	A	14.02	2.409494	0.42715	.	.	ENSG00000175664	ENST00000380473	T	0.75154	-0.91	5.81	5.81	0.92471	.	0.000000	0.64402	D	0.000005	D	0.85570	0.5727	M	0.77103	2.36	0.49130	D	0.999758	D	0.89917	1.0	D	0.91635	0.999	D	0.87177	0.2225	10	0.87932	D	0	-23.5331	12.8374	0.57782	1.0:0.0:0.0:0.0	.	236	Q8N6G2	CM026_HUMAN	C	236	ENSP00000369840:Y236C	ENSP00000369840:Y236C	Y	+	2	0	C13orf26	30441082	1.000000	0.71417	0.988000	0.46212	0.126000	0.20510	4.216000	0.58540	2.343000	0.79666	0.533000	0.62120	TAC		PASS	0.443	TEX26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044380.2	NM_152325		121	93	121	93	---	---	---	---
ELF1	1997	broad.mit.edu	37	13	41507906	41507906	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr13:41507906C>A	ENST00000239882.3	-	9	1829	c.1515G>T	c.(1513-1515)caG>caT	p.Q505H	ELF1_ENST00000442101.1_Missense_Mutation_p.Q481H|ELF1_ENST00000498824.1_5'UTR	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	505					cell differentiation (GO:0030154)|negative regulation of T cell receptor signaling pathway (GO:0050860)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine production (GO:0001817)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q505H(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		TAAGGACCTGCTGAACCTGGG	0.507																																						uc001uxs.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1513-1515)CAG>CAT		E74-like factor 1 (ets domain transcription							102.0	105.0	104.0					13																	41507906		2203	4300	6503	SO:0001583	missense	1997				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr13:41507906C>A	M82882	CCDS9374.1	13q13	2008-07-18			ENSG00000120690	ENSG00000120690			3316	protein-coding gene	gene with protein product		189973				1545787	Standard	NM_001145353		Approved		uc001uxs.3	P32519	OTTHUMG00000016783	ENST00000239882.3:c.1515G>T	13.37:g.41507906C>A	ENSP00000239882:p.Gln505His					ELF1_uc010tfc.1_Missense_Mutation_p.Q481H|ELF1_uc010acd.2_Missense_Mutation_p.Q398H	p.Q505H	NM_172373	NP_758961	P32519	ELF1_HUMAN		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)	9	1888	-		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)	505					B4E2I5|E9PDQ9|Q8N6F6|Q9UDE1	Missense_Mutation	SNP	ENST00000239882.3	37	c.1515G>T	CCDS9374.1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.611922	0.46631	.	.	ENSG00000120690	ENST00000442101;ENST00000379498;ENST00000239882	T;T	0.52057	0.68;0.68	5.53	4.68	0.58851	.	0.067651	0.64402	D	0.000009	T	0.37461	0.1004	L	0.36672	1.1	0.45161	D	0.998174	B;B	0.16166	0.007;0.016	B;B	0.13407	0.006;0.009	T	0.25363	-1.0134	10	0.56958	D	0.05	.	10.9753	0.47463	0.0:0.8001:0.1286:0.0712	.	481;505	E9PDQ9;P32519	.;ELF1_HUMAN	H	481;247;505	ENSP00000405580:Q481H;ENSP00000239882:Q505H	ENSP00000239882:Q505H	Q	-	3	2	ELF1	40405906	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	1.338000	0.33873	2.601000	0.87937	0.591000	0.81541	CAG		PASS	0.507	ELF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044654.3	NM_172373		146	108	146	108	---	---	---	---
PCDH20	64881	broad.mit.edu	37	13	61988090	61988090	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr13:61988090G>C	ENST00000409186.1	-	5	2247	c.142C>G	c.(142-144)Ctg>Gtg	p.L48V	PCDH20_ENST00000409204.4_Missense_Mutation_p.L48V			Q8N6Y1	PCD20_HUMAN	protocadherin 20	48					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.L21V(1)|p.L48V(1)		breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		AGGAAAAACAGAAACAGATGC	0.577																																						uc001vid.3																			2	Substitution - Missense(2)		lung(2)	ovary(4)|breast(1)|central_nervous_system(1)	6						c.(142-144)CTG>GTG		protocadherin 20							14.0	15.0	15.0					13																	61988090		2191	4278	6469	SO:0001583	missense	64881				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:61988090G>C	AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"""Cadherins / Protocadherins : Non-clustered"""	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.142C>G	13.37:g.61988090G>C	ENSP00000386653:p.Leu48Val					PCDH20_uc010thj.1_Missense_Mutation_p.L48V	p.L48V	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN		GBM - Glioblastoma multiforme(99;0.000118)	2	506	-		Breast(118;0.195)|Prostate(109;0.229)	21					A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Missense_Mutation	SNP	ENST00000409186.1	37	c.142C>G	CCDS9442.2	.	.	.	.	.	.	.	.	.	.	G	14.33	2.503458	0.44558	.	.	ENSG00000197991	ENST00000409204;ENST00000409186	T;T	0.55413	0.52;0.52	5.62	5.62	0.85841	.	0.000000	0.49305	D	0.000145	T	0.46073	0.1374	L	0.43152	1.355	0.37318	D	0.909441	P	0.37122	0.583	B	0.34489	0.184	T	0.55774	-0.8088	10	0.52906	T	0.07	.	15.2888	0.73852	0.0:0.0:0.8593:0.1407	.	48	A8K1K9	.	V	48	ENSP00000387250:L48V;ENSP00000386653:L48V	ENSP00000386653:L48V	L	-	1	2	PCDH20	60886091	1.000000	0.71417	0.999000	0.59377	0.934000	0.57294	4.004000	0.57068	2.634000	0.89283	0.655000	0.94253	CTG		PASS	0.577	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333054.2	NM_022843		12	44	12	44	---	---	---	---
DOCK9	23348	broad.mit.edu	37	13	99508182	99508182	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr13:99508182C>G	ENST00000376460.1	-	34	3881	c.3801G>C	c.(3799-3801)agG>agC	p.R1267S	DOCK9_ENST00000448493.2_Missense_Mutation_p.R1279S|DOCK9_ENST00000339416.2_Missense_Mutation_p.R1268S	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1268					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R1267S(1)|p.R1279S(1)|p.R1268S(1)		breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TCTCACTATTCCTTTCTGGAA	0.398																																						uc001vnt.2																			3	Substitution - Missense(3)		lung(3)	central_nervous_system(1)	1						c.(3802-3804)AGG>AGC		dedicator of cytokinesis 9 isoform a							198.0	185.0	189.0					13																	99508182		1859	4104	5963	SO:0001583	missense	23348				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr13:99508182C>G	AF527605	CCDS45062.1	13q32.3	2013-01-10			ENSG00000088387	ENSG00000088387		"""Pleckstrin homology (PH) domain containing"""	14132	protein-coding gene	gene with protein product	"""zizimin1"""	607325				12172552, 12432077	Standard	NM_015296		Approved	KIAA1058, ZIZ1	uc001vnt.2	Q9BZ29	OTTHUMG00000017260	ENST00000376460.1:c.3801G>C	13.37:g.99508182C>G	ENSP00000365643:p.Arg1267Ser					DOCK9_uc001vnw.2_Missense_Mutation_p.R1267S|DOCK9_uc001vnv.1_RNA|DOCK9_uc010tir.1_Missense_Mutation_p.R1268S|DOCK9_uc010tip.1_5'Flank|DOCK9_uc010tiq.1_Missense_Mutation_p.R246S|DOCK9_uc010afu.1_3'UTR	p.R1268S	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN			34	3859	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		1268					B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Missense_Mutation	SNP	ENST00000376460.1	37	c.3804G>C	CCDS45062.1	.	.	.	.	.	.	.	.	.	.	C	12.12	1.843359	0.32606	.	.	ENSG00000088387	ENST00000376460;ENST00000357329;ENST00000376455;ENST00000400235;ENST00000428223;ENST00000400220;ENST00000339416;ENST00000448493;ENST00000449796	T;T;T;T	0.46063	2.08;2.08;2.08;0.88	5.76	2.15	0.27550	.	0.089161	0.85682	D	0.000000	T	0.25938	0.0632	L	0.39898	1.24	0.80722	D	1	P;B;B	0.39665	0.682;0.012;0.004	B;B;B	0.30316	0.114;0.037;0.004	T	0.03325	-1.1048	10	0.46703	T	0.11	.	7.0301	0.24962	0.0:0.4692:0.0:0.5308	.	1268;1267;1268	A8MWZ5;Q9BZ29-5;Q9BZ29	.;.;DOCK9_HUMAN	S	1267;1268;1268;1268;1267;198;1268;1279;19	ENSP00000365643:R1267S;ENSP00000341086:R1268S;ENSP00000401958:R1279S;ENSP00000403528:R19S	ENSP00000341086:R1268S	R	-	3	2	DOCK9	98306183	1.000000	0.71417	0.832000	0.32986	0.750000	0.42670	0.860000	0.27871	0.384000	0.24942	-0.140000	0.14226	AGG		PASS	0.398	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045566.1	NM_015296		6	274	6	274	---	---	---	---
SNRPN	6638	broad.mit.edu	37	15	25222054	25222054	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr15:25222054G>A	ENST00000400100.1	+	10	1188	c.298G>A	c.(298-300)Gct>Act	p.A100T	SNRPN_ENST00000400097.1_Missense_Mutation_p.A100T|SNRPN_ENST00000346403.6_Missense_Mutation_p.A100T|SNRPN_ENST00000577565.1_Missense_Mutation_p.A100T|SNRPN_ENST00000400098.1_Missense_Mutation_p.A100T|SNRPN_ENST00000444203.2_Missense_Mutation_p.A104T|SNHG14_ENST00000551631.2_RNA|SNRPN_ENST00000390687.4_Missense_Mutation_p.A100T|SNRPN_ENST00000554227.2_Missense_Mutation_p.A104T|SNURF_ENST00000338094.6_3'UTR|SNURF_ENST00000551312.2_Intron	NM_022807.2	NP_073718.1	P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	100					response to hormone (GO:0009725)|RNA splicing (GO:0008380)	small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U2 snRNP (GO:0005686)	RNA binding (GO:0003723)	p.A100T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		ACTTGCTGGAGCTGCTGGAGG	0.517									Prader-Willi syndrome																													uc001ywp.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(298-300)GCT>ACT		small nuclear ribonucleoprotein polypeptide N							85.0	87.0	86.0					15																	25222054		1938	4153	6091	SO:0001583	missense	6638	Prader-Willi_syndrome	Familial Cancer Database	Prader-Labhart-Willi syndrome	RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding	g.chr15:25222054G>A	L80005	CCDS10017.1	15q11.2	2013-07-16			ENSG00000128739	ENSG00000128739			11164	protein-coding gene	gene with protein product	"""tissue-specific splicing protein"", ""SM protein N"", ""small nuclear ribonucleoprotein N"""	182279	"""Prader-Willi syndrome chromosome region"""	PWCR		1533223	Standard	NM_022805		Approved	SMN, SM-D, HCERN3, SNRNP-N, SNURF-SNRPN, RT-LI	uc001ywt.1	P63162	OTTHUMG00000129180	ENST00000400100.1:c.298G>A	15.37:g.25222054G>A	ENSP00000382972:p.Ala100Thr					SNRPN_uc001ywq.1_Missense_Mutation_p.A100T|SNRPN_uc001ywr.1_Missense_Mutation_p.A100T|SNRPN_uc001yws.1_Missense_Mutation_p.A100T|SNRPN_uc001ywt.1_Missense_Mutation_p.A100T|SNRPN_uc001ywv.1_Missense_Mutation_p.A103T|SNRPN_uc001yww.1_Missense_Mutation_p.A100T|SNRPN_uc001ywx.1_Missense_Mutation_p.A100T|SNRPN_uc001ywz.1_Intron|PAR-SN_uc001yxa.1_Intron|SNRPN_uc001ywy.1_3'UTR	p.A100T	NM_022807	NP_073718	P63162	RSMN_HUMAN		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)	10	1188	+		all_cancers(20;9.33e-22)|Breast(32;0.000625)	100					B3KVR1|P14648|P17135|Q0D2Q5	Missense_Mutation	SNP	ENST00000400100.1	37	c.298G>A	CCDS10017.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.035389	0.75617	.	.	ENSG00000128739	ENST00000400100;ENST00000400098;ENST00000400097;ENST00000554227;ENST00000390687;ENST00000444203	T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93	3.79	2.87	0.33458	.	0.265582	0.36555	N	0.002529	T	0.43500	0.1250	M	0.78344	2.41	0.80722	D	1	P;P	0.49961	0.93;0.93	B;B	0.42771	0.397;0.397	T	0.47761	-0.9092	10	0.48119	T	0.1	-15.7379	9.5731	0.39440	0.1064:0.0:0.8935:0.0	.	104;100	B3KVR1;P63162	.;RSMN_HUMAN	T	100;100;100;104;100;104	ENSP00000382972:A100T;ENSP00000382970:A100T;ENSP00000382969:A100T;ENSP00000452342:A104T;ENSP00000375105:A100T;ENSP00000408767:A104T	ENSP00000375105:A100T	A	+	1	0	SNRPN	22773147	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.116000	0.89574	1.169000	0.42739	0.561000	0.74099	GCT		PASS	0.517	SNRPN-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413849.10	NM_003097		56	119	56	119	---	---	---	---
RPAP1	26015	broad.mit.edu	37	15	41817271	41817271	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr15:41817271C>T	ENST00000304330.4	-	15	2109	c.1993G>A	c.(1993-1995)Gag>Aag	p.E665K	RPAP1_ENST00000568413.1_5'Flank|RPAP1_ENST00000561603.1_Missense_Mutation_p.E665K	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	665						nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)	p.E665K(2)		NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		TCAGCTTCCTCTGGGGGCAAG	0.617																																						uc001zod.2																			2	Substitution - Missense(2)		urinary_tract(1)|lung(1)	large_intestine(1)	1						c.(1993-1995)GAG>AAG		RNA polymerase II associated protein 1							49.0	46.0	47.0					15																	41817271		2203	4300	6503	SO:0001583	missense	26015					nucleus	DNA binding|DNA-directed RNA polymerase activity	g.chr15:41817271C>T	BC000246	CCDS10079.1	15q14	2004-03-16			ENSG00000103932	ENSG00000103932			24567	protein-coding gene	gene with protein product		611475				10718198	Standard	XM_005254297		Approved	DKFZP727M111, KIAA1403, MGC858, FLJ12732	uc001zod.3	Q9BWH6	OTTHUMG00000130342	ENST00000304330.4:c.1993G>A	15.37:g.41817271C>T	ENSP00000306123:p.Glu665Lys					RPAP1_uc001zoc.2_5'Flank	p.E665K	NM_015540	NP_056355	Q9BWH6	RPAP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)	15	2117	-		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	665					Q9H9I2|Q9NSQ5|Q9P2E4|Q9UFS7	Missense_Mutation	SNP	ENST00000304330.4	37	c.1993G>A	CCDS10079.1	.	.	.	.	.	.	.	.	.	.	C	19.62	3.861593	0.71949	.	.	ENSG00000103932	ENST00000304330	T	0.64260	-0.09	5.38	4.44	0.53790	.	0.187479	0.47455	D	0.000222	T	0.58921	0.2156	L	0.56769	1.78	0.49299	D	0.999778	P	0.40431	0.717	B	0.35813	0.211	T	0.68588	-0.5369	10	0.87932	D	0	-14.3946	17.1548	0.86788	0.0:0.8419:0.1581:0.0	.	665	Q9BWH6	RPAP1_HUMAN	K	665	ENSP00000306123:E665K	ENSP00000306123:E665K	E	-	1	0	RPAP1	39604563	0.990000	0.36364	0.945000	0.38365	0.976000	0.68499	2.845000	0.48254	2.536000	0.85505	0.455000	0.32223	GAG		PASS	0.617	RPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252694.2	NM_015540		42	51	42	51	---	---	---	---
GOLGA6A	342096	broad.mit.edu	37	15	74365125	74365125	+	Nonsense_Mutation	SNP	G	G	A			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr15:74365125G>A	ENST00000290438.3	-	13	1499	c.1459C>T	c.(1459-1461)Cag>Tag	p.Q487*	RN7SL429P_ENST00000479090.2_RNA	NM_001038640.2	NP_001033729.2	Q9NYA3	GOG6A_HUMAN	golgin A6 family, member A	487						Golgi apparatus (GO:0005794)		p.Q487*(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|liver(1)|lung(6)|prostate(1)|urinary_tract(1)	16						GTCTCTAGCTGTTGGTTCTGG	0.612																																						uc002axa.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(1459-1461)CAG>TAG		golgi autoantigen, golgin subfamily a, 6							78.0	97.0	91.0					15																	74365125		2162	4297	6459	SO:0001587	stop_gained	342096							g.chr15:74365125G>A	AF263742	CCDS32290.1	15q24.1	2013-05-10	2010-02-12	2009-09-28	ENSG00000159289	ENSG00000159289			13567	protein-coding gene	gene with protein product		610288	"""golgi autoantigen, golgin subfamily a, member 6"", ""golgi autoantigen, golgin subfamily a, 6"", ""golgi autoantigen, golgin subfamily a, 6A"""	GOLGA6		11161787	Standard	NM_001038640		Approved	GLP	uc002axa.1	Q9NYA3	OTTHUMG00000173035	ENST00000290438.3:c.1459C>T	15.37:g.74365125G>A	ENSP00000290438:p.Gln487*						p.Q487*	NM_001038640	NP_001033729	Q9NYA3	GOG6A_HUMAN			13	1500	-			487			Potential.		A8K959|Q9NYA7	Nonsense_Mutation	SNP	ENST00000290438.3	37	c.1459C>T	CCDS32290.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.710347	0.68730	.	.	ENSG00000159289	ENST00000290438	.	.	.	1.55	0.53	0.17102	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	4.8555	0.13557	0.0:0.0:0.6394:0.3606	.	.	.	.	X	487	.	ENSP00000290438:Q487X	Q	-	1	0	GOLGA6A	72152178	0.524000	0.26282	0.798000	0.32154	0.005000	0.04900	0.556000	0.23438	0.193000	0.20303	0.162000	0.16502	CAG		PASS	0.612	GOLGA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421835.1	XM_292357		42	230	42	230	---	---	---	---
PDE8A	5151	broad.mit.edu	37	15	85619972	85619972	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr15:85619972G>C	ENST00000310298.4	+	6	752	c.500G>C	c.(499-501)aGa>aCa	p.R167T	PDE8A_ENST00000557819.2_3'UTR|PDE8A_ENST00000557957.1_Missense_Mutation_p.R95T|PDE8A_ENST00000339708.5_Missense_Mutation_p.R167T|PDE8A_ENST00000394553.1_Missense_Mutation_p.R167T			O60658	PDE8A_HUMAN	phosphodiesterase 8A	167					cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|phosphorelay signal transduction system (GO:0000160)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.R167T(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)		Caffeine(DB00201)|Ketotifen(DB00920)	AGGGTGGATAGAGAAGAGTTG	0.289																																						uc002blh.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(499-501)AGA>ACA		phosphodiesterase 8A isoform 1							196.0	190.0	192.0					15																	85619972		2203	4299	6502	SO:0001583	missense	5151				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	g.chr15:85619972G>C	AF056490	CCDS10336.1, CCDS10337.1, CCDS58397.1	15q25.3	2008-05-14			ENSG00000073417	ENSG00000073417	3.1.4.17	"""Phosphodiesterases"""	8793	protein-coding gene	gene with protein product		602972				9618252	Standard	NM_001243137		Approved	HsT19550	uc002blh.3	O60658	OTTHUMG00000148670	ENST00000310298.4:c.500G>C	15.37:g.85619972G>C	ENSP00000311453:p.Arg167Thr					PDE8A_uc002bli.2_Missense_Mutation_p.R167T|PDE8A_uc010bnc.2_5'UTR|PDE8A_uc010bnd.2_5'UTR|PDE8A_uc002blj.2_5'UTR|PDE8A_uc002blk.2_5'UTR	p.R167T	NM_002605	NP_002596	O60658	PDE8A_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0608)		5	689	+	Colorectal(223;0.227)		167					B3KXE6|H0YMZ7|Q6P9H3|Q969I1|Q96PC9|Q96PD0|Q96PD1|Q96T71|Q9UMB7|Q9UMC3	Missense_Mutation	SNP	ENST00000310298.4	37	c.500G>C	CCDS10336.1	.	.	.	.	.	.	.	.	.	.	G	4.885	0.164552	0.09287	.	.	ENSG00000073417	ENST00000310298;ENST00000394553;ENST00000339708	T;T;T	0.71341	-0.56;-0.56;-0.48	4.11	-2.53	0.06326	Signal transduction response regulator, receiver domain (1);	0.287341	0.32120	N	0.006554	T	0.58090	0.2098	L	0.50333	1.59	0.28394	N	0.918931	B;B	0.32653	0.01;0.379	B;B	0.32624	0.015;0.149	T	0.52155	-0.8613	10	0.46703	T	0.11	.	9.2163	0.37348	0.5591:0.0:0.4409:0.0	.	167;167	O60658-2;O60658	.;PDE8A_HUMAN	T	167	ENSP00000311453:R167T;ENSP00000378056:R167T;ENSP00000340679:R167T	ENSP00000311453:R167T	R	+	2	0	PDE8A	83420976	1.000000	0.71417	0.063000	0.19743	0.417000	0.31264	0.880000	0.28159	-0.667000	0.05303	-0.350000	0.07774	AGA		PASS	0.289	PDE8A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309018.1	NM_002605		15	156	15	156	---	---	---	---
OR4F6	390648	broad.mit.edu	37	15	102346255	102346255	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr15:102346255G>C	ENST00000328882.4	+	1	354	c.333G>C	c.(331-333)gaG>gaC	p.E111D		NM_001005326.1	NP_001005326.1	Q8NGB9	OR4F6_HUMAN	olfactory receptor, family 4, subfamily F, member 6	111						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E111D(1)		breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			GGGGAACTGAGATGGTGCTGC	0.458																																						uc010utr.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(331-333)GAG>GAC		olfactory receptor, family 4, subfamily F,							213.0	192.0	199.0					15																	102346255		2203	4300	6503	SO:0001583	missense	390648				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:102346255G>C	AC025234	CCDS32341.1	15q26.3	2014-02-19	2002-02-28		ENSG00000184140	ENSG00000184140		"""GPCR / Class A : Olfactory receptors"""	15372	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily F, member 12"""	OR4F12			Standard	NM_001005326		Approved		uc010utr.2	Q8NGB9	OTTHUMG00000172267	ENST00000328882.4:c.333G>C	15.37:g.102346255G>C	ENSP00000327525:p.Glu111Asp						p.E111D	NM_001005326	NP_001005326	Q8NGB9	OR4F6_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)		1	333	+	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		111			Helical; Name=3; (Potential).		B9EH28|Q6IF95	Missense_Mutation	SNP	ENST00000328882.4	37	c.333G>C	CCDS32341.1	.	.	.	.	.	.	.	.	.	.	.	13.70	2.315016	0.40996	.	.	ENSG00000184140	ENST00000328882	T	0.00354	7.92	4.78	-0.544	0.11847	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000033	T	0.00496	0.0016	M	0.73430	2.235	0.30519	N	0.768655	D	0.64830	0.994	P	0.58454	0.839	T	0.43458	-0.9390	10	0.49607	T	0.09	.	8.633	0.33930	0.6187:0.0:0.3813:0.0	.	111	Q8NGB9	OR4F6_HUMAN	D	111	ENSP00000327525:E111D	ENSP00000327525:E111D	E	+	3	2	OR4F6	100163778	0.010000	0.17322	0.971000	0.41717	0.166000	0.22503	0.082000	0.14847	-0.050000	0.13356	-0.218000	0.12543	GAG		PASS	0.458	OR4F6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417593.1			20	507	20	507	---	---	---	---
CLCN7	1186	broad.mit.edu	37	16	1510444	1510444	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr16:1510444C>T	ENST00000382745.4	-	6	1174	c.569G>A	c.(568-570)gGc>gAc	p.G190D	CLCN7_ENST00000262318.8_Missense_Mutation_p.G166D|CLCN7_ENST00000448525.1_Missense_Mutation_p.G166D	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	190					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|response to pH (GO:0009268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)	p.G190D(1)		breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				AATCACAGAGCCCACGAGCAC	0.597																																						uc002clv.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)|skin(1)	4						c.(568-570)GGC>GAC		chloride channel 7 isoform a							125.0	103.0	111.0					16																	1510444		2199	4300	6499	SO:0001583	missense	1186					integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chr16:1510444C>T	Z67743	CCDS32361.1, CCDS45378.1	16p13	2012-09-26	2012-02-23		ENSG00000103249	ENSG00000103249		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ion channels / Chloride channels : Voltage-sensitive"""	2025	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 63"""	602727	"""chloride channel 7"""			8543009	Standard	NM_001114331		Approved	CLC-7, OPTA2, CLC7, ClC-7, PPP1R63	uc002clv.3	P51798	OTTHUMG00000044467	ENST00000382745.4:c.569G>A	16.37:g.1510444C>T	ENSP00000372193:p.Gly190Asp					CLCN7_uc002clw.2_Missense_Mutation_p.G166D	p.G190D	NM_001287	NP_001278	P51798	CLCN7_HUMAN			6	679	-		Hepatocellular(780;0.0893)	190			Helical; (By similarity).		A6NEJ7|A8K5T9|A8K7X1|B3KPN3|E9PDB9|Q9NYX5	Missense_Mutation	SNP	ENST00000382745.4	37	c.569G>A	CCDS32361.1	.	.	.	.	.	.	.	.	.	.	C	18.46	3.628142	0.66901	.	.	ENSG00000103249	ENST00000448525;ENST00000262318;ENST00000382745;ENST00000428756	T;T	0.80214	-1.35;-1.35	4.8	4.8	0.61643	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.85915	0.5808	M	0.68952	2.095	0.80722	D	1	P;D	0.54772	0.915;0.968	P;P	0.55161	0.77;0.713	D	0.88082	0.2807	10	0.87932	D	0	-30.7031	16.4243	0.83809	0.0:1.0:0.0:0.0	.	166;190	E9PDB9;P51798	.;CLCN7_HUMAN	D	166;143;190;132	ENSP00000410907:G166D;ENSP00000372193:G190D	ENSP00000262318:G143D	G	-	2	0	CLCN7	1450445	1.000000	0.71417	0.829000	0.32907	0.081000	0.17604	7.396000	0.79891	2.211000	0.71520	0.585000	0.79938	GGC		PASS	0.597	CLCN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103598.2	NM_001287		54	93	54	93	---	---	---	---
PKD1	5310	broad.mit.edu	37	16	2153650	2153650	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr16:2153650C>A	ENST00000262304.4	-	23	8616	c.8408G>T	c.(8407-8409)gGc>gTc	p.G2803V	PKD1_ENST00000423118.1_Missense_Mutation_p.G2803V|PKD1_ENST00000561991.1_Intron	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2803	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.G2803V(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GAAGTGGCAGCCAGGCCCTGG	0.667																																						uc002cos.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|skin(1)	3						c.(8407-8409)GGC>GTC		polycystin 1 isoform 1 precursor							23.0	27.0	25.0					16																	2153650		2181	4279	6460	SO:0001583	missense	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2153650C>A	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.8408G>T	16.37:g.2153650C>A	ENSP00000262304:p.Gly2803Val					PKD1_uc002cot.1_Missense_Mutation_p.G2803V|PKD1_uc010bse.1_RNA	p.G2803V	NM_001009944	NP_001009944	P98161	PKD1_HUMAN			23	8617	-			2803			Extracellular (Potential).|REJ.		Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	c.8408G>T	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	C	11.37	1.618473	0.28801	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101;ENST00000382481	T;T	0.36878	1.23;1.23	4.62	1.41	0.22369	Egg jelly receptor, REJ-like (1);	0.658485	0.15766	N	0.245714	T	0.36880	0.0983	L	0.46157	1.445	0.36483	D	0.867983	D;P	0.54772	0.968;0.565	P;B	0.51999	0.687;0.276	T	0.37911	-0.9685	10	0.37606	T	0.19	.	6.7443	0.23453	0.0:0.5858:0.0:0.4142	.	2803;2803	P98161-3;P98161	.;PKD1_HUMAN	V	2803;2803;2138;1082	ENSP00000262304:G2803V;ENSP00000399501:G2803V	ENSP00000262304:G2803V	G	-	2	0	PKD1	2093651	0.827000	0.29292	0.749000	0.31150	0.672000	0.39443	0.908000	0.28545	0.572000	0.29383	0.555000	0.69702	GGC		PASS	0.667	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			36	75	36	75	---	---	---	---
GRIN2A	2903	broad.mit.edu	37	16	9892311	9892311	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr16:9892311C>T	ENST00000396573.2	-	12	2488	c.2179G>A	c.(2179-2181)Gct>Act	p.A727T	GRIN2A_ENST00000562109.1_Missense_Mutation_p.A727T|GRIN2A_ENST00000404927.2_Missense_Mutation_p.A727T|GRIN2A_ENST00000535259.1_Missense_Mutation_p.A570T|GRIN2A_ENST00000330684.3_Missense_Mutation_p.A727T|GRIN2A_ENST00000396575.2_Missense_Mutation_p.A727T	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	727			A -> T (in FESD). {ECO:0000269|PubMed:23933819}.		directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.A727T(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TAGATGAAAGCGTCCAGCTTC	0.572																																						uc002czo.3																			1	Substitution - Missense(1)		lung(1)	skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45						c.(2179-2181)GCT>ACT		N-methyl-D-aspartate receptor subunit 2A isoform	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						72.0	61.0	65.0					16																	9892311		2197	4300	6497	SO:0001583	missense	2903				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9892311C>T		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.2179G>A	16.37:g.9892311C>T	ENSP00000379818:p.Ala727Thr					GRIN2A_uc010uym.1_Missense_Mutation_p.A727T|GRIN2A_uc010uyn.1_Missense_Mutation_p.A570T|GRIN2A_uc002czr.3_Missense_Mutation_p.A727T	p.A727T	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN			11	2727	-			727			Extracellular (Potential).		O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.2179G>A	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	C	17.03	3.284533	0.59867	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84	5.18	4.21	0.49690	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.166674	0.52532	D	0.000063	T	0.74816	0.3766	M	0.93241	3.395	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.993	P;D;P	0.68039	0.898;0.955;0.687	T	0.82675	-0.0340	9	.	.	.	.	14.7426	0.69467	0.0:0.8542:0.1458:0.0	.	570;727;727	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	T	727;727;570;727;727	ENSP00000379818:A727T;ENSP00000385872:A727T;ENSP00000441572:A570T;ENSP00000332549:A727T;ENSP00000379820:A727T	.	A	-	1	0	GRIN2A	9799812	1.000000	0.71417	0.997000	0.53966	0.034000	0.12701	7.681000	0.84073	1.158000	0.42547	-0.312000	0.09012	GCT		PASS	0.572	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			19	52	19	52	---	---	---	---
SLC5A11	115584	broad.mit.edu	37	16	24895442	24895442	+	Missense_Mutation	SNP	G	G	C	rs375189875		TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr16:24895442G>C	ENST00000347898.3	+	8	1276	c.654G>C	c.(652-654)ttG>ttC	p.L218F	SLC5A11_ENST00000424767.2_Missense_Mutation_p.L183F|SLC5A11_ENST00000449109.2_Missense_Mutation_p.L154F|SLC5A11_ENST00000565769.1_Missense_Mutation_p.L154F|SLC5A11_ENST00000567758.1_Missense_Mutation_p.L183F|SLC5A11_ENST00000569071.1_Missense_Mutation_p.L154F|SLC5A11_ENST00000539472.1_Missense_Mutation_p.L154F|SLC5A11_ENST00000568579.1_Missense_Mutation_p.L148F|SLC5A11_ENST00000545376.1_Missense_Mutation_p.L148F	NM_052944.3	NP_443176.2			solute carrier family 5 (sodium/inositol cotransporter), member 11									p.L218F(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		CGCTCACCTTGATGGGCTACA	0.592																																						uc002dmu.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(652-654)TTG>TTC		solute carrier family 5 (sodium/glucose							138.0	127.0	131.0					16																	24895442		2197	4300	6497	SO:0001583	missense	115584				apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity	g.chr16:24895442G>C	AF292385	CCDS10625.1, CCDS58437.1, CCDS58438.1, CCDS58439.1, CCDS58440.1	16p12.1	2013-07-19	2013-07-19		ENSG00000158865	ENSG00000158865		"""Solute carriers"""	23091	protein-coding gene	gene with protein product		610238	"""solute carrier family 5 (sodium/glucose cotransporter), member 11"""			12039040, 12133831	Standard	NM_001258414		Approved	KST1, SMIT2, SGLT6	uc002dmu.4	Q8WWX8	OTTHUMG00000097003	ENST00000347898.3:c.654G>C	16.37:g.24895442G>C	ENSP00000289932:p.Leu218Phe					SLC5A11_uc002dms.2_Missense_Mutation_p.L154F|SLC5A11_uc010vcd.1_Missense_Mutation_p.L183F|SLC5A11_uc002dmt.2_Missense_Mutation_p.L154F|SLC5A11_uc010vce.1_Missense_Mutation_p.L148F|SLC5A11_uc010bxt.2_Missense_Mutation_p.L154F	p.L218F	NM_052944	NP_443176	Q8WWX8	SC5AB_HUMAN		GBM - Glioblastoma multiforme(48;0.0365)	8	886	+			218			Helical; (Potential).			Missense_Mutation	SNP	ENST00000347898.3	37	c.654G>C	CCDS10625.1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.648527	0.67358	.	.	ENSG00000158865	ENST00000347898;ENST00000449109;ENST00000424767;ENST00000545376;ENST00000539472	D;D;D;D;D	0.91237	-2.81;-2.81;-2.81;-2.81;-2.81	5.11	1.4	0.22301	.	0.000000	0.85682	D	0.000000	D	0.96119	0.8735	H	0.96943	3.91	0.58432	D	0.99999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;1.0	D	0.94723	0.7902	10	0.87932	D	0	.	8.5907	0.33686	0.0931:0.4309:0.476:0.0	.	148;183;218;154	B7Z329;Q8WWX8-2;Q8WWX8;Q05BF1	.;.;SC5AB_HUMAN;.	F	218;154;183;148;154	ENSP00000289932:L218F;ENSP00000389606:L154F;ENSP00000416782:L183F;ENSP00000441384:L148F;ENSP00000441018:L154F	ENSP00000289932:L218F	L	+	3	2	SLC5A11	24802943	1.000000	0.71417	0.949000	0.38748	0.939000	0.58152	1.372000	0.34261	0.500000	0.27991	0.655000	0.94253	TTG		PASS	0.592	SLC5A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214091.3	NM_052944		117	301	117	301	---	---	---	---
CLN3	1201	broad.mit.edu	37	16	28493970	28493970	+	Missense_Mutation	SNP	G	G	A	rs113041302		TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr16:28493970G>A	ENST00000569430.1	-	12	1633	c.814C>T	c.(814-816)Cgg>Tgg	p.R272W	CLN3_ENST00000395653.4_Missense_Mutation_p.R172W|CLN3_ENST00000357806.7_Missense_Mutation_p.R173W|CLN3_ENST00000535392.1_Missense_Mutation_p.R194W|CLN3_ENST00000565316.1_Missense_Mutation_p.R272W|CLN3_ENST00000357857.9_Missense_Mutation_p.R218W|CLN3_ENST00000357076.5_Missense_Mutation_p.R162W|CLN3_ENST00000333496.9_Missense_Mutation_p.R248W|CLN3_ENST00000567963.1_Missense_Mutation_p.R272W|CLN3_ENST00000359984.7_Missense_Mutation_p.R272W|CLN3_ENST00000355477.5_Missense_Mutation_p.R224W|CLN3_ENST00000568224.1_Missense_Mutation_p.R194W|CLN3_ENST00000360019.2_Missense_Mutation_p.R272W|CLN3_ENST00000354630.5_Missense_Mutation_p.R272W			Q13286	CLN3_HUMAN	ceroid-lipofuscinosis, neuronal 3	272					action potential (GO:0001508)|amyloid precursor protein catabolic process (GO:0042987)|arginine transport (GO:0015809)|associative learning (GO:0008306)|autophagic vacuole fusion (GO:0000046)|cell death (GO:0008219)|cellular amino acid metabolic process (GO:0006520)|ceramide metabolic process (GO:0006672)|cytosolic calcium ion homeostasis (GO:0051480)|galactosylceramide metabolic process (GO:0006681)|globoside metabolic process (GO:0001575)|glucosylceramide metabolic process (GO:0006678)|ionotropic glutamate receptor signaling pathway (GO:0035235)|lysosomal lumen acidification (GO:0007042)|lysosomal lumen pH elevation (GO:0035752)|lysosome organization (GO:0007040)|macroautophagy (GO:0016236)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of macroautophagy (GO:0016242)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteolysis (GO:0045861)|neuromuscular process controlling balance (GO:0050885)|neurotransmitter metabolic process (GO:0042133)|protein catabolic process (GO:0030163)|protein processing (GO:0016485)|receptor-mediated endocytosis (GO:0006898)|sphingomyelin metabolic process (GO:0006684)|vacuolar transport (GO:0007034)|vesicle transport along microtubule (GO:0047496)	autophagic vacuole (GO:0005776)|caveola (GO:0005901)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|trans-Golgi network (GO:0005802)	unfolded protein binding (GO:0051082)	p.R272W(1)		breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						CACCTTTCCCGAAGGGAGAGG	0.562																																						uc002dpo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(814-816)CGG>TGG		ceroid-lipofuscinosis, neuronal 3							63.0	65.0	64.0					16																	28493970		2197	4300	6497	SO:0001583	missense	1201				amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport	autophagic vacuole|caveola|cytosol|early endosome|Golgi membrane|Golgi stack|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network	unfolded protein binding	g.chr16:28493970G>A	U32680	CCDS10632.1, CCDS73852.1, CCDS73853.1, CCDS73854.1, CCDS73855.1	16p12	2014-09-17	2008-07-29		ENSG00000188603	ENSG00000188603			2074	protein-coding gene	gene with protein product	"""juvenile neuronal ceroid lipofuscinosis"""	607042	"""Batten, Spielmeyer-Vogt disease"""	BTS		18317235	Standard	NM_001042432		Approved	JNCL	uc002dpp.3	Q13286	OTTHUMG00000097024	ENST00000569430.1:c.814C>T	16.37:g.28493970G>A	ENSP00000454229:p.Arg272Trp					uc010vct.1_Intron|CLN3_uc002dpl.2_Missense_Mutation_p.R194W|CLN3_uc010vcu.1_Missense_Mutation_p.R172W|CLN3_uc002dpn.2_Missense_Mutation_p.R173W|CLN3_uc002dpm.2_Missense_Mutation_p.R218W|CLN3_uc010vcv.1_Missense_Mutation_p.R248W|CLN3_uc010byd.2_Missense_Mutation_p.R272W|CLN3_uc002dpp.2_Missense_Mutation_p.R272W|CLN3_uc002dpt.1_Missense_Mutation_p.R172W|CLN3_uc002dpq.1_Missense_Mutation_p.R224W|CLN3_uc010bye.1_Missense_Mutation_p.R272W|CLN3_uc002dpr.1_RNA|CLN3_uc010byf.1_RNA|CLN3_uc002dps.1_Missense_Mutation_p.R145W|CLN3_uc002dpu.1_Missense_Mutation_p.R170W|CLN3_uc002dpw.1_Missense_Mutation_p.R119W|CLN3_uc010vcw.1_Missense_Mutation_p.R218W|CLN3_uc002dqa.2_Missense_Mutation_p.R323W|CLN3_uc010vcx.1_Missense_Mutation_p.R172W|CLN3_uc002dpx.1_Missense_Mutation_p.R149W|CLN3_uc002dpy.1_Missense_Mutation_p.R116W	p.R272W	NM_000086	NP_000077	Q13286	CLN3_HUMAN			10	1137	-			272					B2R7J1|O00668|O95089|Q549S9|Q9UP09|Q9UP11|Q9UP12|Q9UP13|Q9UP14	Missense_Mutation	SNP	ENST00000569430.1	37	c.814C>T	CCDS10632.1	.	.	.	.	.	.	.	.	.	.	g	21.0	4.085496	0.76642	.	.	ENSG00000188603	ENST00000535392;ENST00000359984;ENST00000360019;ENST00000354630;ENST00000355477;ENST00000357857;ENST00000333496;ENST00000395653;ENST00000357806;ENST00000357076	T;T;T;T;T;T;T;T;D	0.93859	0.2;0.2;0.2;0.2;0.2;0.2;0.2;0.2;-3.3	5.55	3.4	0.38934	Major facilitator superfamily domain, general substrate transporter (1);	1.206480	0.05537	N	0.564990	D	0.93628	0.7965	N	0.25380	0.74	0.20563	N	0.999889	D;P;P;P;D;D;D;P;D;P;P;P;D	0.76494	0.999;0.952;0.939;0.878;0.998;0.999;0.99;0.951;0.958;0.952;0.94;0.952;0.998	D;P;B;P;P;D;P;P;P;P;P;P;D	0.68765	0.918;0.657;0.387;0.514;0.899;0.934;0.571;0.625;0.75;0.533;0.599;0.72;0.96	D	0.84363	0.0539	10	0.87932	D	0	-2.4833	7.1445	0.25575	0.0:0.157:0.5984:0.2445	.	172;248;272;272;323;119;149;170;172;218;224;272;173	B4DFT5;B4DXL3;Q13286-3;Q13286-4;B4DIA8;O95093;O95090;O95086;B4DMY6;B4DFF3;Q13286-2;Q13286;O95089	.;.;.;.;.;.;.;.;.;.;.;CLN3_HUMAN;.	W	194;272;272;272;224;218;149;172;173;162	ENSP00000443221:R194W;ENSP00000353073:R272W;ENSP00000353116:R272W;ENSP00000346650:R272W;ENSP00000347660:R224W;ENSP00000350523:R218W;ENSP00000379014:R172W;ENSP00000350457:R173W;ENSP00000349586:R162W	ENSP00000329171:R149W	R	-	1	2	CLN3	28401471	0.421000	0.25465	0.998000	0.56505	0.951000	0.60555	1.206000	0.32321	1.309000	0.44985	0.506000	0.49869	CGG		PASS	0.562	CLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214115.2			55	96	55	96	---	---	---	---
SRCAP	10847	broad.mit.edu	37	16	30748643	30748643	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr16:30748643C>T	ENST00000262518.4	+	34	7667	c.7282C>T	c.(7282-7284)Cgc>Tgc	p.R2428C	SRCAP_ENST00000395059.2_Missense_Mutation_p.R2366C|SRCAP_ENST00000344771.4_Missense_Mutation_p.R2270C	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2428	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)	p.R2428C(1)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CACACCACCCCGCTGCAGTCC	0.627																																						uc002dze.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(7282-7284)CGC>TGC		Snf2-related CBP activator protein							76.0	68.0	71.0					16																	30748643		2197	4300	6497	SO:0001583	missense	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30748643C>T	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.7282C>T	16.37:g.30748643C>T	ENSP00000262518:p.Arg2428Cys					SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.R2223C	p.R2428C	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		34	7667	+			2428			Pro-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	c.7282C>T	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	C	3.365	-0.129742	0.06753	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.91521	-2.83;-2.86;-2.86	4.18	3.21	0.36854	.	0.584718	0.14168	N	0.336926	T	0.78413	0.4279	N	0.08118	0	0.23120	N	0.998265	B;B	0.10296	0.003;0.002	B;B	0.04013	0.001;0.001	T	0.67787	-0.5580	10	0.54805	T	0.06	0.756	5.3467	0.16014	0.1981:0.6962:0.0:0.1058	.	2366;2428	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	C	2428;2366;2270	ENSP00000262518:R2428C;ENSP00000378499:R2366C;ENSP00000343042:R2270C	ENSP00000262518:R2428C	R	+	1	0	SRCAP	30656144	0.981000	0.34729	0.162000	0.22713	0.349000	0.29174	0.942000	0.29017	0.962000	0.38057	0.306000	0.20318	CGC		PASS	0.627	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		21	67	21	67	---	---	---	---
ZNF646	9726	broad.mit.edu	37	16	31089490	31089490	+	Silent	SNP	G	G	A			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr16:31089490G>A	ENST00000394979.2	+	1	2268	c.1845G>A	c.(1843-1845)agG>agA	p.R615R	ZNF646_ENST00000300850.5_Silent_p.R615R			O15015	ZN646_HUMAN	zinc finger protein 646	615					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.R615R(1)		NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						CACCTCCTAGGGCCTTTGCCT	0.547																																						uc002eap.2																			1	Substitution - coding silent(1)		lung(1)	breast(2)	2						c.(1843-1845)AGG>AGA		zinc finger protein 646							106.0	98.0	100.0					16																	31089490		2197	4300	6497	SO:0001819	synonymous_variant	9726				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr16:31089490G>A	AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"""Zinc fingers, C2H2-type"""	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.1845G>A	16.37:g.31089490G>A							p.R615R	NM_014699	NP_055514	O15015	ZN646_HUMAN			2	2134	+			615					Q8IVD8	Silent	SNP	ENST00000394979.2	37	c.1845G>A																																																																																					PASS	0.547	ZNF646-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000108510.2	NM_014699		28	53	28	53	---	---	---	---
MMP2	4313	broad.mit.edu	37	16	55516925	55516925	+	Silent	SNP	A	A	C			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr16:55516925A>C	ENST00000219070.4	+	2	767	c.258A>C	c.(256-258)acA>acC	p.T86T	MMP2_ENST00000543485.1_Silent_p.T10T|MMP2_ENST00000437642.2_Silent_p.T36T|MMP2_ENST00000570308.1_Silent_p.T10T	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	86					angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|bone trabecula formation (GO:0060346)|cellular protein metabolic process (GO:0044267)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|positive regulation of innate immune response (GO:0045089)|proteolysis (GO:0006508)|response to hypoxia (GO:0001666)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|sarcomere (GO:0030017)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)	p.T86T(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Captopril(DB01197)|Marimastat(DB00786)	TGCCCCAGACAGGTGATCTTG	0.537																																						uc002ehz.3																			1	Substitution - coding silent(1)		lung(1)	large_intestine(3)|ovary(3)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	11						c.(256-258)ACA>ACC		matrix metalloproteinase 2 isoform a	Marimastat(DB00786)|Sulindac(DB00605)						127.0	119.0	122.0					16																	55516925		2198	4300	6498	SO:0001819	synonymous_variant	4313				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding	g.chr16:55516925A>C		CCDS10752.1, CCDS45487.1	16q13-q21	2008-02-05	2005-08-08		ENSG00000087245	ENSG00000087245	3.4.24.24		7166	protein-coding gene	gene with protein product		120360	"""matrix metalloproteinase 2 (gelatinase A, 72kD gelatinase, 72kD type IV collagenase)"", ""matrix metalloproteinase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)"""	CLG4, CLG4A			Standard	NM_004530		Approved	TBE-1	uc002ehz.4	P08253	OTTHUMG00000133202	ENST00000219070.4:c.258A>C	16.37:g.55516925A>C						MMP2_uc010vhd.1_Silent_p.T10T|MMP2_uc010ccc.2_Silent_p.T36T	p.T86T	NM_004530	NP_004521	P08253	MMP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	2	569	+		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)	86					B2R6U1|B4DWH3|E9PE45|Q9UCJ8	Silent	SNP	ENST00000219070.4	37	c.258A>C	CCDS10752.1																																																																																				PASS	0.537	MMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256913.3			64	171	64	171	---	---	---	---
KATNB1	10300	broad.mit.edu	37	16	57787893	57787893	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr16:57787893C>A	ENST00000379661.3	+	13	1606	c.1214C>A	c.(1213-1215)gCa>gAa	p.A405E		NM_005886.2	NP_005877.2			katanin p80 (WD repeat containing) subunit B 1									p.A405E(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_neural(199;0.223)				CCCTTCCCTGCACCCCCAGAG	0.662																																						uc002eml.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1213-1215)GCA>GAA		katanin p80 subunit B 1							71.0	60.0	64.0					16																	57787893		2198	4300	6498	SO:0001583	missense	10300				cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting	katanin complex|microtubule|spindle pole	microtubule binding|protein heterodimerization activity	g.chr16:57787893C>A	AF052432	CCDS10788.1	16q12.2	2013-01-09	2003-03-13		ENSG00000140854	ENSG00000140854		"""WD repeat domain containing"""	6217	protein-coding gene	gene with protein product		602703	"""katanin p80 (WD40-containing) subunit B 1"""			9568719	Standard	XM_006721121		Approved		uc002eml.1	Q9BVA0	OTTHUMG00000133467	ENST00000379661.3:c.1214C>A	16.37:g.57787893C>A	ENSP00000368982:p.Ala405Glu						p.A405E	NM_005886	NP_005877	Q9BVA0	KTNB1_HUMAN			13	1588	+		all_neural(199;0.223)	405			Interaction with PAFAH1B1 (By similarity).			Missense_Mutation	SNP	ENST00000379661.3	37	c.1214C>A	CCDS10788.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.618205	0.87359	.	.	ENSG00000140854	ENST00000379661	T	0.55760	0.5	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.64907	0.2641	L	0.47190	1.495	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.60510	-0.7249	10	0.25106	T	0.35	-0.3202	16.4232	0.83773	0.0:1.0:0.0:0.0	.	405	Q9BVA0	KTNB1_HUMAN	E	405	ENSP00000368982:A405E	ENSP00000368982:A405E	A	+	2	0	KATNB1	56345394	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	5.635000	0.67841	2.216000	0.71823	0.313000	0.20887	GCA		PASS	0.662	KATNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257343.3			37	65	37	65	---	---	---	---
CHST6	4166	broad.mit.edu	37	16	75512862	75512862	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr16:75512862C>T	ENST00000332272.4	-	3	1044	c.865G>A	c.(865-867)Gcc>Acc	p.A289T	RP11-77K12.4_ENST00000530512.3_RNA|CHST6_ENST00000390664.2_Missense_Mutation_p.A289T	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	289					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)	p.A289T(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CCAGTGAAGGCGTAGAGCGCA	0.657																																						uc002fef.2																			1	Substitution - Missense(1)		lung(1)		0						c.(865-867)GCC>ACC		carbohydrate (N-acetylglucosamine 6-O)							52.0	50.0	51.0					16																	75512862		2198	4300	6498	SO:0001583	missense	4166				keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr16:75512862C>T	AF280086	CCDS10918.1	16q22	2008-02-05			ENSG00000183196	ENSG00000183196		"""Sulfotransferases, membrane-bound"""	6938	protein-coding gene	gene with protein product		605294		MCDC1		8644739, 11017086	Standard	NM_021615		Approved		uc002fef.3	Q9GZX3	OTTHUMG00000137612	ENST00000332272.4:c.865G>A	16.37:g.75512862C>T	ENSP00000328983:p.Ala289Thr					CHST6_uc002feg.1_RNA|CHST6_uc002feh.1_Missense_Mutation_p.A289T	p.A289T	NM_021615	NP_067628	Q9GZX3	CHST6_HUMAN			3	1045	-			289			Lumenal (Potential).		D3DUK3	Missense_Mutation	SNP	ENST00000332272.4	37	c.865G>A	CCDS10918.1	.	.	.	.	.	.	.	.	.	.	C	10.78	1.446277	0.25987	.	.	ENSG00000183196	ENST00000332272;ENST00000390664	D;D	0.99762	-6.67;-6.67	4.73	4.73	0.59995	Sulfotransferase domain (1);	0.322809	0.31495	N	0.007547	D	0.98664	0.9552	L	0.33485	1.01	0.29340	N	0.866057	B	0.14438	0.01	B	0.17098	0.017	D	0.96813	0.9598	10	0.18276	T	0.48	.	15.1951	0.73081	0.0:1.0:0.0:0.0	.	289	Q9GZX3	CHST6_HUMAN	T	289	ENSP00000328983:A289T;ENSP00000375079:A289T	ENSP00000328983:A289T	A	-	1	0	CHST6	74070363	0.066000	0.20996	0.993000	0.49108	0.440000	0.31957	0.415000	0.21181	2.194000	0.70268	0.591000	0.81541	GCC		PASS	0.657	CHST6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435478.1	NM_021615		45	104	45	104	---	---	---	---
ZBTB4	57659	broad.mit.edu	37	17	7365286	7365286	+	Silent	SNP	C	C	T			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr17:7365286C>T	ENST00000311403.4	-	4	3354	c.3015G>A	c.(3013-3015)gaG>gaA	p.E1005E	ZBTB4_ENST00000380599.4_Silent_p.E1005E	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	1005					cellular response to DNA damage stimulus (GO:0006974)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)|methyl-CpNpG binding (GO:0010428)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)	p.E1005E(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		TCTGGGTTCTCTCAACCCCTG	0.622																																						uc002ghc.3																			2	Substitution - coding silent(2)		lung(2)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(3013-3015)GAG>GAA		zinc finger and BTB domain containing 4							58.0	64.0	62.0					17																	7365286		2203	4300	6503	SO:0001819	synonymous_variant	57659				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:7365286C>T	AB040971	CCDS11107.1	17p13.2	2013-01-09			ENSG00000174282	ENSG00000174282		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	23847	protein-coding gene	gene with protein product		612308				12477932	Standard	NM_020899		Approved	KIAA1538, KAISO-L1, ZNF903	uc002ghd.4	Q9P1Z0	OTTHUMG00000108137	ENST00000311403.4:c.3015G>A	17.37:g.7365286C>T						ZBTB4_uc002ghd.3_Silent_p.E1005E	p.E1005E	NM_001128833	NP_001122305	Q9P1Z0	ZBTB4_HUMAN		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)	4	3265	-		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)	1005					B3KVL6|Q7Z697|Q86XJ4|Q8N4V8	Silent	SNP	ENST00000311403.4	37	c.3015G>A	CCDS11107.1																																																																																				PASS	0.622	ZBTB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226940.2	NM_020899		7	155	7	155	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7577105	7577105	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr17:7577105G>C	ENST00000269305.4	-	8	1022	c.833C>G	c.(832-834)cCt>cGt	p.P278R	TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.P278R|TP53_ENST00000420246.2_Missense_Mutation_p.P278R|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.P278R|TP53_ENST00000445888.2_Missense_Mutation_p.P278R	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	278	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		P -> A (in sporadic cancers; somatic mutation; dbSNP:rs17849781). {ECO:0000269|PubMed:15489334}.|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:9450901}.|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.P278L(61)|p.P278R(30)|p.P278H(13)|p.0?(8)|p.P278F(3)|p.?(2)|p.P278fs*67(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTCTCTCCCAGGACAGGCACA	0.552		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		128	Substitution - Missense(107)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(5)|Unknown(2)	p.P278L(52)|p.P278S(48)|p.P278R(26)|p.P278T(21)|p.P278A(17)|p.P278H(11)|p.0?(7)|p.P278fs*67(5)|p.P278F(3)|p.P278fs*28(2)|p.?(2)|p.A276_R283delACPGRDRR(1)|p.A276fs*64(1)|p.V274_P278del(1)|p.P278P(1)|p.C277_P278insXXXXXXX(1)|p.F270_D281del12(1)|p.P278_G279insXXXXX(1)|p.C275_R283delCACPGRDRR(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275fs*20(1)	large_intestine(18)|lung(17)|skin(15)|upper_aerodigestive_tract(12)|haematopoietic_and_lymphoid_tissue(11)|breast(9)|kidney(8)|central_nervous_system(7)|oesophagus(7)|ovary(7)|stomach(4)|bone(4)|liver(3)|soft_tissue(2)|thyroid(1)|prostate(1)|urinary_tract(1)|autonomic_ganglia(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM961376	TP53	M		c.(832-834)CCT>CGT	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							72.0	63.0	66.0					17																	7577105		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577105G>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.833C>G	17.37:g.7577105G>C	ENSP00000269305:p.Pro278Arg	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.2_Missense_Mutation_p.P278R|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.P146R|TP53_uc010cng.1_Missense_Mutation_p.P146R|TP53_uc002gii.1_Missense_Mutation_p.P146R|TP53_uc010cnh.1_Missense_Mutation_p.P278R|TP53_uc010cni.1_Missense_Mutation_p.P278R|TP53_uc002gij.2_Missense_Mutation_p.P278R	p.P278R	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1027	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	278		P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (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.833C>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.422173	0.83559	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99885	-7.5;-7.5;-7.5;-7.5;-7.5;-7.5	5.13	4.16	0.48862	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.050655	0.85682	D	0.000000	D	0.99891	0.9948	M	0.92459	3.31	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.96442	0.9327	10	0.87932	D	0	-13.7877	11.4227	0.49991	0.0873:0.0:0.9127:0.0	.	278;278;278;278	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	R	278;278;278;278;278;267;146	ENSP00000352610:P278R;ENSP00000269305:P278R;ENSP00000398846:P278R;ENSP00000391127:P278R;ENSP00000391478:P278R;ENSP00000425104:P146R	ENSP00000269305:P278R	P	-	2	0	TP53	7517830	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.573000	0.98181	1.392000	0.46585	0.462000	0.41574	CCT		PASS	0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		61	35	61	35	---	---	---	---
NTN1	9423	broad.mit.edu	37	17	8926324	8926324	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr17:8926324C>T	ENST00000173229.2	+	2	741	c.634C>T	c.(634-636)Ccg>Tcg	p.P212S	NTN1_ENST00000538852.1_Missense_Mutation_p.P212S|NTN1_ENST00000546090.1_Missense_Mutation_p.P212S	NM_004822.2	NP_004813.2	O95631	NET1_HUMAN	netrin 1	212	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|establishment of nucleus localization (GO:0040023)|inner ear morphogenesis (GO:0042472)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of axon extension (GO:0030517)|neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of cell proliferation (GO:0008284)|regulation of cell migration (GO:0030334)|single organismal cell-cell adhesion (GO:0016337)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)		p.P212S(1)	NTN1/ACLY(2)	central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(5)	13						CGACATGCGCCCGCTCTCGGG	0.697																																						uc002glw.3																			1	Substitution - Missense(1)		lung(1)		0						c.(634-636)CCG>TCG		netrin 1 precursor							14.0	16.0	16.0					17																	8926324		2195	4287	6482	SO:0001583	missense	9423				apoptosis|axon guidance		protein binding	g.chr17:8926324C>T	U75586	CCDS11148.1	17p13-p12	2013-03-01			ENSG00000065320	ENSG00000065320		"""Netrins"""	8029	protein-coding gene	gene with protein product	"""Netrin-1"""	601614				9950216	Standard	NM_004822		Approved	NTN1L	uc002glw.4	O95631	OTTHUMG00000130257	ENST00000173229.2:c.634C>T	17.37:g.8926324C>T	ENSP00000173229:p.Pro212Ser						p.P212S	NM_004822	NP_004813	O95631	NET1_HUMAN			2	741	+			212			Laminin N-terminal.		E9KL51	Missense_Mutation	SNP	ENST00000173229.2	37	c.634C>T	CCDS11148.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.036921	0.75617	.	.	ENSG00000065320	ENST00000173229;ENST00000538852;ENST00000546090	D;D;D	0.87103	-2.21;-2.21;-2.21	5.01	5.01	0.66863	Laminin, N-terminal (3);	0.000000	0.85682	D	0.000000	D	0.91436	0.7297	M	0.92784	3.345	0.58432	D	0.999999	P	0.37276	0.589	B	0.39771	0.309	D	0.93217	0.6605	10	0.72032	D	0.01	.	17.9289	0.88991	0.0:1.0:0.0:0.0	.	212	O95631	NET1_HUMAN	S	212	ENSP00000173229:P212S;ENSP00000443259:P212S;ENSP00000441611:P212S	ENSP00000173229:P212S	P	+	1	0	NTN1	8867049	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.746000	0.85057	2.320000	0.78422	0.650000	0.86243	CCG		PASS	0.697	NTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252583.1			6	23	6	23	---	---	---	---
TTC19	54902	broad.mit.edu	37	17	15928468	15928468	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr17:15928468G>A	ENST00000261647.5	+	8	1283	c.814G>A	c.(814-816)Gga>Aga	p.G272R	TTC19_ENST00000497842.2_3'UTR|TTC19_ENST00000486880.2_Missense_Mutation_p.G393R	NM_001271420.1|NM_017775.3	NP_001258349.1|NP_060245.3	Q6DKK2	TTC19_HUMAN	tetratricopeptide repeat domain 19	272					cytokinesis (GO:0000910)|mitochondrial respiratory chain complex III assembly (GO:0034551)	centrosome (GO:0005813)|midbody (GO:0030496)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)		p.G393R(1)		central_nervous_system(1)|lung(2)|skin(1)|stomach(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		AGAAATACAAGGAGAAAGACA	0.448																																						uc002gph.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1177-1179)GGA>AGA		tetratricopeptide repeat domain 19							37.0	37.0	37.0					17																	15928468		2203	4300	6503	SO:0001583	missense	54902				cell cycle|cytokinesis|mitochondrial respiratory chain complex III assembly	centrosome|midbody|mitochondrial inner membrane	protein binding	g.chr17:15928468G>A	AK094819	CCDS11174.1, CCDS11174.2	17p11.2	2013-01-11			ENSG00000011295	ENSG00000011295		"""Tetratricopeptide (TTC) repeat domain containing"""	26006	protein-coding gene	gene with protein product		613814					Standard	NM_017775		Approved	FLJ20343, MGC19520	uc002gph.3	Q6DKK2	OTTHUMG00000059306	ENST00000261647.5:c.814G>A	17.37:g.15928468G>A	ENSP00000261647:p.Gly272Arg					TTC19_uc010cox.1_RNA|TTC19_uc002gpk.3_Missense_Mutation_p.G35R|TTC19_uc002gpj.2_Missense_Mutation_p.G35R	p.G393R	NM_017775	NP_060245	Q6DKK2	TTC19_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	8	1195	+			272					A8MZ52|B3KP62|B4DN65|Q2M248|Q7L3U8|Q9H6G3|Q9NXB2	Missense_Mutation	SNP	ENST00000261647.5	37	c.1177G>A	CCDS11174.2	.	.	.	.	.	.	.	.	.	.	G	28.5	4.926413	0.92319	.	.	ENSG00000011295	ENST00000261647;ENST00000555605;ENST00000395886	D	0.96802	-4.13	5.88	5.88	0.94601	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	D	0.98595	0.9530	M	0.91717	3.235	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99267	1.0892	10	0.87932	D	0	-13.1483	19.2047	0.93724	0.0:0.0:1.0:0.0	.	272;35	Q6DKK2;B3KT23	TTC19_HUMAN;.	R	272;393;272	ENSP00000261647:G272R	ENSP00000261647:G393R	G	+	1	0	TTC19	15869193	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.303000	0.89955	2.781000	0.95711	0.591000	0.81541	GGA		PASS	0.448	TTC19-001	NOVEL	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000131725.6	NM_017775		3	65	3	65	---	---	---	---
ATAD5	79915	broad.mit.edu	37	17	29192760	29192760	+	Nonsense_Mutation	SNP	C	C	T			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr17:29192760C>T	ENST00000321990.4	+	11	3553	c.3175C>T	c.(3175-3177)Caa>Taa	p.Q1059*	RP13-753N3.1_ENST00000584157.1_RNA|CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1059					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)	p.Q1059*(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				AGAAAAGTATCAACCTCAGAC	0.294																																						uc002hfs.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)	3						c.(3175-3177)CAA>TAA		ATPase family, AAA domain containing 5							88.0	87.0	87.0					17																	29192760		2203	4296	6499	SO:0001587	stop_gained	79915				response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity	g.chr17:29192760C>T		CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"""ATPases / AAA-type"""	25752	protein-coding gene	gene with protein product	"""enhanced level of genomic instability 1 homolog (S. cerevisiae)"""	609534	"""chromosome 17 open reading frame 41"""	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.3175C>T	17.37:g.29192760C>T	ENSP00000313171:p.Gln1059*					ATAD5_uc002hft.1_Nonsense_Mutation_p.Q956*	p.Q1059*	NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN			11	3521	+		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)	1059					Q05DH0|Q69YR6|Q9H9I1	Nonsense_Mutation	SNP	ENST00000321990.4	37	c.3175C>T	CCDS11260.1	.	.	.	.	.	.	.	.	.	.	C	44	11.158174	0.99524	.	.	ENSG00000176208	ENST00000321990	.	.	.	5.18	5.18	0.71444	.	0.062451	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	.	18.792	0.91976	0.0:1.0:0.0:0.0	.	.	.	.	X	1059	.	ENSP00000313171:Q1059X	Q	+	1	0	ATAD5	26216886	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.309000	0.51903	2.432000	0.82394	0.650000	0.86243	CAA		PASS	0.294	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	NM_024857		8	56	8	56	---	---	---	---
ATAD5	79915	broad.mit.edu	37	17	29192766	29192766	+	Nonsense_Mutation	SNP	C	C	T			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr17:29192766C>T	ENST00000321990.4	+	11	3559	c.3181C>T	c.(3181-3183)Cag>Tag	p.Q1061*	RP13-753N3.1_ENST00000584157.1_RNA|CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1061					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)	p.Q1061*(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				GTATCAACCTCAGACTGCCAG	0.299																																						uc002hfs.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)	3						c.(3181-3183)CAG>TAG		ATPase family, AAA domain containing 5							84.0	84.0	84.0					17																	29192766		2203	4296	6499	SO:0001587	stop_gained	79915				response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity	g.chr17:29192766C>T		CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"""ATPases / AAA-type"""	25752	protein-coding gene	gene with protein product	"""enhanced level of genomic instability 1 homolog (S. cerevisiae)"""	609534	"""chromosome 17 open reading frame 41"""	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.3181C>T	17.37:g.29192766C>T	ENSP00000313171:p.Gln1061*					ATAD5_uc002hft.1_Nonsense_Mutation_p.Q958*	p.Q1061*	NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN			11	3527	+		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)	1061					Q05DH0|Q69YR6|Q9H9I1	Nonsense_Mutation	SNP	ENST00000321990.4	37	c.3181C>T	CCDS11260.1	.	.	.	.	.	.	.	.	.	.	C	44	11.162270	0.99525	.	.	ENSG00000176208	ENST00000321990	.	.	.	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	.	18.792	0.91976	0.0:1.0:0.0:0.0	.	.	.	.	X	1061	.	ENSP00000313171:Q1061X	Q	+	1	0	ATAD5	26216892	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.990000	0.76225	2.432000	0.82394	0.650000	0.86243	CAG		PASS	0.299	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	NM_024857		7	57	7	57	---	---	---	---
ATAD5	79915	broad.mit.edu	37	17	29192774	29192774	+	Silent	SNP	C	C	T			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr17:29192774C>T	ENST00000321990.4	+	11	3567	c.3189C>T	c.(3187-3189)gcC>gcT	p.A1063A	RP13-753N3.1_ENST00000584157.1_RNA|CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1063					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)	p.A1063A(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				CTCAGACTGCCAGTGAACTTA	0.303																																						uc002hfs.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(3187-3189)GCC>GCT		ATPase family, AAA domain containing 5							80.0	81.0	80.0					17																	29192774		2203	4293	6496	SO:0001819	synonymous_variant	79915				response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity	g.chr17:29192774C>T		CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"""ATPases / AAA-type"""	25752	protein-coding gene	gene with protein product	"""enhanced level of genomic instability 1 homolog (S. cerevisiae)"""	609534	"""chromosome 17 open reading frame 41"""	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.3189C>T	17.37:g.29192774C>T						ATAD5_uc002hft.1_Silent_p.A960A	p.A1063A	NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN			11	3535	+		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)	1063					Q05DH0|Q69YR6|Q9H9I1	Silent	SNP	ENST00000321990.4	37	c.3189C>T	CCDS11260.1																																																																																				PASS	0.303	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	NM_024857		6	57	6	57	---	---	---	---
LRRC46	90506	broad.mit.edu	37	17	45913745	45913745	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr17:45913745C>A	ENST00000269025.4	+	7	862	c.499C>A	c.(499-501)Cag>Aag	p.Q167K		NM_033413.3	NP_219481.1	Q96FV0	LRC46_HUMAN	leucine rich repeat containing 46	167	LRRCT.							p.Q167K(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	9						CCTGGACGGGCAGCCTGTGGT	0.607																																						uc002ima.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(499-501)CAG>AAG		leucine rich repeat containing 46							92.0	84.0	87.0					17																	45913745		2203	4300	6503	SO:0001583	missense	90506							g.chr17:45913745C>A		CCDS11518.1	17q21.32	2005-08-09				ENSG00000141294			25047	protein-coding gene	gene with protein product						12477932	Standard	NM_033413		Approved	MGC16309	uc002ima.3	Q96FV0		ENST00000269025.4:c.499C>A	17.37:g.45913745C>A	ENSP00000269025:p.Gln167Lys					LRRC46_uc002imb.2_Missense_Mutation_p.Q120K	p.Q167K	NM_033413	NP_219481	Q96FV0	LRC46_HUMAN			7	755	+			167			LRRCT.		A8K9Q0	Missense_Mutation	SNP	ENST00000269025.4	37	c.499C>A	CCDS11518.1	.	.	.	.	.	.	.	.	.	.	c	12.11	1.839195	0.32513	.	.	ENSG00000141294	ENST00000269025	T	0.22945	1.93	5.01	2.83	0.33086	.	0.239407	0.29522	N	0.011901	T	0.17492	0.0420	L	0.45581	1.43	0.09310	N	1	B;B	0.28713	0.22;0.22	B;B	0.19148	0.024;0.024	T	0.16247	-1.0409	10	0.16420	T	0.52	-20.1611	8.4083	0.32627	0.0:0.6629:0.2402:0.0968	.	167;167	A8K9Q0;Q96FV0	.;LRC46_HUMAN	K	167	ENSP00000269025:Q167K	ENSP00000269025:Q167K	Q	+	1	0	LRRC46	43268744	0.449000	0.25689	0.856000	0.33681	0.001000	0.01503	0.713000	0.25794	1.121000	0.41925	-0.150000	0.13652	CAG		PASS	0.607	LRRC46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441377.1	NM_033413		46	80	46	80	---	---	---	---
MSI2	124540	broad.mit.edu	37	17	55693391	55693391	+	Missense_Mutation	SNP	G	G	A	rs201389280		TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr17:55693391G>A	ENST00000284073.2	+	9	807	c.598G>A	c.(598-600)Gcc>Acc	p.A200T	MSI2_ENST00000322684.3_Missense_Mutation_p.A196T|MSI2_ENST00000579180.1_Missense_Mutation_p.A96T|MSI2_ENST00000416426.2_Missense_Mutation_p.A178T|MSI2_ENST00000442934.2_Missense_Mutation_p.A139T|MSI2_ENST00000579505.1_3'UTR|RN7SL449P_ENST00000464937.2_RNA	NM_138962.2	NP_620412.1	Q96DH6	MSI2H_HUMAN	musashi RNA-binding protein 2	200						cytoplasm (GO:0005737)|polysome (GO:0005844)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)	p.A200T(1)|p.A196T(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	7	Breast(9;1.78e-08)			GBM - Glioblastoma multiforme(1;0.0025)		AAGAGGCCGGGCCCGGGGACT	0.537			T	HOXA9	CML								G|||	1	0.000199681	0.0008	0.0	5008	,	,		18784	0.0		0.0	False		,,,				2504	0.0					uc002iuz.1				Dom	yes		17	17q23.2	124540	T	musashi homolog 2 (Drosophila)			L	HOXA9		CML		2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)|pancreas(1)	2						c.(598-600)GCC>ACC		musashi 2 isoform a							141.0	123.0	129.0					17																	55693391		2203	4300	6503	SO:0001583	missense	124540					cytoplasm	nucleotide binding|RNA binding	g.chr17:55693391G>A	BC001526	CCDS11596.1, CCDS11597.1	17q23.2	2013-07-16	2012-12-13					"""RNA binding motif (RRM) containing"""	18585	protein-coding gene	gene with protein product		607897	"""musashi homolog 2 (Drosophila)"""			11588182	Standard	NM_138962		Approved		uc002iuz.1	Q96DH6		ENST00000284073.2:c.598G>A	17.37:g.55693391G>A	ENSP00000284073:p.Ala200Thr					MSI2_uc010wnm.1_Missense_Mutation_p.A178T|MSI2_uc002iva.2_Missense_Mutation_p.A196T	p.A200T	NM_138962	NP_620412	Q96DH6	MSI2H_HUMAN		GBM - Glioblastoma multiforme(1;0.0025)	9	771	+	Breast(9;1.78e-08)		200					Q7Z6M7|Q8N9T4	Missense_Mutation	SNP	ENST00000284073.2	37	c.598G>A	CCDS11596.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	17.04	3.286481	0.59867	.	.	ENSG00000153944	ENST00000416426;ENST00000284073;ENST00000322684;ENST00000442934	D;D;D;D	0.86432	-2.12;-2.12;-2.12;-2.12	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.80602	0.4654	L	0.29908	0.895	0.80722	D	1	P;B;B	0.42456	0.78;0.202;0.027	B;B;B	0.34931	0.192;0.164;0.016	T	0.79797	-0.1652	10	0.30854	T	0.27	.	19.7977	0.96492	0.0:0.0:1.0:0.0	.	178;196;200	B4DHE8;Q96DH6-2;Q96DH6	.;.;MSI2H_HUMAN	T	178;200;196;139	ENSP00000414671:A178T;ENSP00000284073:A200T;ENSP00000313616:A196T;ENSP00000392607:A139T	ENSP00000284073:A200T	A	+	1	0	MSI2	53048390	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.254000	0.72460	2.698000	0.92095	0.655000	0.94253	GCC		PASS	0.537	MSI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441813.1			83	253	83	253	---	---	---	---
VMP1	81671	broad.mit.edu	37	17	57816265	57816265	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr17:57816265C>G	ENST00000262291.4	+	5	681	c.371C>G	c.(370-372)tCt>tGt	p.S124C	VMP1_ENST00000545362.1_Missense_Mutation_p.S124C|VMP1_ENST00000539763.1_5'UTR|VMP1_ENST00000537567.1_Intron|VMP1_ENST00000536180.1_Missense_Mutation_p.S27C	NM_030938.3	NP_112200.2	Q96GC9	VMP1_HUMAN	vacuole membrane protein 1	124					autophagy (GO:0006914)|cell junction assembly (GO:0034329)|embryo implantation (GO:0007566)|regulation of autophagy (GO:0010506)|single organismal cell-cell adhesion (GO:0016337)	autophagic vacuole membrane (GO:0000421)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|pre-autophagosomal structure (GO:0000407)		p.S124C(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|skin(2)	16						ATTTTGTCTTCTGTTGGGCTT	0.353																																						uc002ixu.3																			1	Substitution - Missense(1)		lung(1)		0						c.(370-372)TCT>TGT		transmembrane protein 49							187.0	180.0	183.0					17																	57816265		2203	4300	6503	SO:0001583	missense	81671				autophagy|cell adhesion	endoplasmic reticulum|ER-Golgi intermediate compartment membrane|integral to membrane|plasma membrane|vacuolar membrane		g.chr17:57816265C>G		CCDS11619.1	17q23.1	2014-05-20	2011-03-02	2011-03-02	ENSG00000062716	ENSG00000062716			29559	protein-coding gene	gene with protein product	"""ectopic P-granules autophagy protein 3 homolog (C. elegans)"", ""transport and golgi organization 5 homolog (Drosophila)"""	611753	"""transmembrane protein 49"""	TMEM49		11230166, 11785947	Standard	NM_030938		Approved	EPG3, TANGO5	uc002ixu.4	Q96GC9	OTTHUMG00000179882	ENST00000262291.4:c.371C>G	17.37:g.57816265C>G	ENSP00000262291:p.Ser124Cys					TMEM49_uc010wog.1_5'UTR|TMEM49_uc010woh.1_Missense_Mutation_p.S124C|TMEM49_uc010woi.1_Missense_Mutation_p.S27C|TMEM49_uc010woj.1_Intron	p.S124C	NM_030938	NP_112200	Q96GC9	VMP1_HUMAN	Epithelial(12;1.15e-09)|all cancers(12;1.15e-08)		5	644	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		124			Helical; (Potential).		B4DVV9|Q9H0P4|Q9P089	Missense_Mutation	SNP	ENST00000262291.4	37	c.371C>G	CCDS11619.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.837673	0.91117	.	.	ENSG00000062716	ENST00000262291;ENST00000536180;ENST00000545362	T;T;T	0.52057	0.68;0.68;0.68	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.78515	0.4295	M	0.93507	3.425	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.83718	0.0191	10	0.87932	D	0	-13.0565	19.8113	0.96547	0.0:1.0:0.0:0.0	.	27;124;124	B4DGZ7;F5H2J3;Q96GC9	.;.;VMP1_HUMAN	C	124;27;124	ENSP00000262291:S124C;ENSP00000444969:S27C;ENSP00000446230:S124C	ENSP00000262291:S124C	S	+	2	0	VMP1	55171047	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.035000	0.70940	2.690000	0.91761	0.655000	0.94253	TCT		PASS	0.353	VMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448793.1	NM_030938		72	167	72	167	---	---	---	---
CA4	762	broad.mit.edu	37	17	58233923	58233923	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr17:58233923C>G	ENST00000300900.4	+	3	214	c.115C>G	c.(115-117)Cca>Gca	p.P39A		NM_000717.3	NP_000708.1	P22748	CAH4_HUMAN	carbonic anhydrase IV	39					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|organ development (GO:0048513)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|secretory granule membrane (GO:0030667)|trans-Golgi network (GO:0005802)|transport vesicle membrane (GO:0030658)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)	p.P39A(1)		kidney(1)|large_intestine(2)|lung(5)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.83e-12)|all cancers(12;6.83e-11)		Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diclofenamide(DB01144)|Dorzolamide(DB00869)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Topiramate(DB00273)|Trichlormethiazide(DB01021)|Zonisamide(DB00909)	CTGCTCAGTGCCAGTCAAGTG	0.592																																						uc002iym.3																			1	Substitution - Missense(1)		lung(1)		0						c.(115-117)CCA>GCA		carbonic anhydrase IV precursor	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)						84.0	77.0	79.0					17																	58233923		2203	4300	6503	SO:0001583	missense	762				bicarbonate transport|one-carbon metabolic process	anchored to external side of plasma membrane|apical plasma membrane|brush border membrane|ER-Golgi intermediate compartment|membrane fraction|perinuclear region of cytoplasm|rough endoplasmic reticulum|secretory granule membrane|trans-Golgi network|transport vesicle membrane	carbonate dehydratase activity|protein binding|zinc ion binding	g.chr17:58233923C>G	L10955	CCDS11624.1	17q23.1	2012-08-21			ENSG00000167434	ENSG00000167434	4.2.1.1	"""Carbonic anhydrases"""	1375	protein-coding gene	gene with protein product		114760	"""retinitis pigmentosa 17 (autosomal dominant)"""	RP17		8325641	Standard	NM_000717		Approved	CAIV, Car4	uc002iym.4	P22748		ENST00000300900.4:c.115C>G	17.37:g.58233923C>G	ENSP00000300900:p.Pro39Ala					CA4_uc010wou.1_RNA	p.P39A	NM_000717	NP_000708	P22748	CAH4_HUMAN	Epithelial(12;3.83e-12)|all cancers(12;6.83e-11)		3	209	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		39					B4DQA4|Q6FHI7	Missense_Mutation	SNP	ENST00000300900.4	37	c.115C>G	CCDS11624.1	.	.	.	.	.	.	.	.	.	.	C	15.08	2.727637	0.48833	.	.	ENSG00000167434	ENST00000300900	T	0.72282	-0.64	5.27	5.27	0.74061	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.000000	0.85682	D	0.000000	T	0.64472	0.2601	N	0.02129	-0.67	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	T	0.75947	-0.3138	10	0.87932	D	0	.	14.2767	0.66184	0.0:1.0:0.0:0.0	.	39	P22748	CAH4_HUMAN	A	39	ENSP00000300900:P39A	ENSP00000300900:P39A	P	+	1	0	CA4	55588705	0.863000	0.29885	0.995000	0.50966	0.081000	0.17604	3.874000	0.56101	2.735000	0.93741	0.655000	0.94253	CCA		PASS	0.592	CA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449189.1	NM_000717		50	135	50	135	---	---	---	---
MARCH10	162333	broad.mit.edu	37	17	60865910	60865910	+	Silent	SNP	G	G	C			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr17:60865910G>C	ENST00000311269.5	-	3	415	c.141C>G	c.(139-141)cgC>cgG	p.R47R	MARCH10_ENST00000456609.2_Silent_p.R47R|MARCH10_ENST00000583600.1_Silent_p.R47R|MARCH10_ENST00000544856.2_Silent_p.R47R	NM_152598.2	NP_689811.2	Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	47					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.R47R(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						AAAACTGATCGCGTTTCTTCT	0.443																																						uc010ddr.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(139-141)CGC>CGG		ring finger protein 190							141.0	120.0	127.0					17																	60865910		2203	4300	6503	SO:0001819	synonymous_variant	162333						ligase activity|zinc ion binding	g.chr17:60865910G>C	AK093076	CCDS11635.1, CCDS74122.1, CCDS74123.1	17q23.3	2013-01-09	2012-02-23	2007-08-20		ENSG00000173838		"""RING-type (C3HC4) zinc fingers"", ""MARCH membrane-associated ring fingers"""	26655	protein-coding gene	gene with protein product		613337	"""ring finger protein 190"", ""membrane-associated ring finger (C3HC4) 10"""	RNF190		17604280	Standard	XM_005257103		Approved	FLJ35757, MARCH-X	uc002jag.4	Q8NA82		ENST00000311269.5:c.141C>G	17.37:g.60865910G>C						MARCH10_uc002jag.3_Silent_p.R47R|MARCH10_uc010dds.2_Silent_p.R47R|MARCH10_uc002jah.2_Silent_p.R47R	p.R47R	NM_001100875	NP_001094345	Q8NA82	MARHA_HUMAN			3	379	-			47					D3DU09|Q8IYS7|Q8N7Z7	Silent	SNP	ENST00000311269.5	37	c.141C>G	CCDS11635.1																																																																																				PASS	0.443	MARCH10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445252.1	NM_152598		58	121	58	121	---	---	---	---
TBCD	6904	broad.mit.edu	37	17	80887328	80887328	+	Silent	SNP	C	C	T	rs557235353	byFrequency	TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr17:80887328C>T	ENST00000355528.4	+	32	3073	c.2943C>T	c.(2941-2943)caC>caT	p.H981H	TBCD_ENST00000539345.2_Silent_p.H981H	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	981					'de novo' posttranslational protein folding (GO:0051084)|adherens junction assembly (GO:0034333)|cellular protein metabolic process (GO:0044267)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of GTPase activity (GO:0043547)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|tight junction (GO:0005923)	beta-tubulin binding (GO:0048487)|chaperone binding (GO:0051087)|GTPase activator activity (GO:0005096)	p.H981H(1)				Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			ACCGCTACCACGTCCTGCTGG	0.672													C|||	2	0.000399361	0.0	0.0	5008	,	,		16366	0.002		0.0	False		,,,				2504	0.0					uc002kfz.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(2941-2943)CAC>CAT		beta-tubulin cofactor D							41.0	48.0	46.0					17																	80887328		2162	4261	6423	SO:0001819	synonymous_variant	6904				'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity	g.chr17:80887328C>T	BC003094	CCDS45818.1	17q25.3	2006-11-21	2006-11-21			ENSG00000141556			11581	protein-coding gene	gene with protein product		604649	"""tubulin-specific chaperone d"""				Standard	NM_005993		Approved		uc002kfz.3	Q9BTW9		ENST00000355528.4:c.2943C>T	17.37:g.80887328C>T						TBCD_uc002kfy.1_Silent_p.H981H|TBCD_uc002kgb.1_Silent_p.H306H|TBCD_uc002kgc.2_Silent_p.H126H|TBCD_uc002kgd.2_Translation_Start_Site	p.H981H	NM_005993	NP_005984	Q9BTW9	TBCD_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)		32	3073	+	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	981					O95458|Q7L8K1|Q8IXP6|Q8NAX0|Q8WYH4|Q96E74|Q9UF82|Q9UG46|Q9Y2J3	Silent	SNP	ENST00000355528.4	37	c.2943C>T	CCDS45818.1																																																																																				PASS	0.672	TBCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439415.1	NM_005993		16	50	16	50	---	---	---	---
SLC14A2	8170	broad.mit.edu	37	18	43219741	43219741	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr18:43219741C>G	ENST00000255226.6	+	7	1690	c.874C>G	c.(874-876)Cag>Gag	p.Q292E	SLC14A2_ENST00000586448.1_Missense_Mutation_p.Q292E	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	292					transmembrane transport (GO:0055085)|urea transport (GO:0015840)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|urea transmembrane transporter activity (GO:0015204)	p.Q292E(1)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGGGGTCGGCCAGGTGTATGG	0.527																																						uc010dnj.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						c.(874-876)CAG>GAG		solute carrier family 14 (urea transporter),							164.0	144.0	151.0					18																	43219741		2203	4300	6503	SO:0001583	missense	8170					apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity	g.chr18:43219741C>G	X96969	CCDS11924.1	18q12.1-q21.1	2013-05-22			ENSG00000132874	ENSG00000132874		"""Solute carriers"""	10919	protein-coding gene	gene with protein product		601611				8647271	Standard	NM_007163		Approved	HUT2, UT2	uc010dnj.3	Q15849	OTTHUMG00000132616	ENST00000255226.6:c.874C>G	18.37:g.43219741C>G	ENSP00000255226:p.Gln292Glu					SLC14A2_uc002lbb.2_Missense_Mutation_p.Q292E|SLC14A2_uc002lbe.2_Missense_Mutation_p.Q292E	p.Q292E	NM_007163	NP_009094	Q15849	UT2_HUMAN			8	1195	+			292					A8K8Q7|Q2TBD6|Q96PH5	Missense_Mutation	SNP	ENST00000255226.6	37	c.874C>G	CCDS11924.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.903236	0.92035	.	.	ENSG00000132874	ENST00000255226	T	0.55760	0.5	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.77116	0.4083	M	0.87381	2.88	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	T	0.78460	-0.2195	10	0.49607	T	0.09	-15.5041	19.3787	0.94523	0.0:1.0:0.0:0.0	.	292	Q15849	UT2_HUMAN	E	292	ENSP00000255226:Q292E	ENSP00000255226:Q292E	Q	+	1	0	SLC14A2	41473739	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	7.254000	0.78329	2.884000	0.98904	0.655000	0.94253	CAG		PASS	0.527	SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255858.1			157	209	157	209	---	---	---	---
SMAD2	4087	broad.mit.edu	37	18	45371772	45371772	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr18:45371772G>C	ENST00000402690.2	-	10	1613	c.1219C>G	c.(1219-1221)Cag>Gag	p.Q407E	SMAD2_ENST00000586040.1_Missense_Mutation_p.Q377E|SMAD2_ENST00000262160.6_Missense_Mutation_p.Q407E|SMAD2_ENST00000356825.4_Missense_Mutation_p.Q377E|SMAD2_ENST00000591214.1_Missense_Mutation_p.Q377E	NM_001003652.3	NP_001003652.1	Q15796	SMAD2_HUMAN	SMAD family member 2	407	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|cell fate commitment (GO:0045165)|common-partner SMAD protein phosphorylation (GO:0007182)|developmental growth (GO:0048589)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic foregut morphogenesis (GO:0048617)|endoderm formation (GO:0001706)|gastrulation (GO:0007369)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|insulin secretion (GO:0030073)|intracellular signal transduction (GO:0035556)|lung development (GO:0030324)|mesoderm formation (GO:0001707)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|nodal signaling pathway (GO:0038092)|organ growth (GO:0035265)|palate development (GO:0060021)|pancreas development (GO:0031016)|paraxial mesoderm morphogenesis (GO:0048340)|pericardium development (GO:0060039)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900224)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|primary miRNA processing (GO:0031053)|regulation of binding (GO:0051098)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to cholesterol (GO:0070723)|response to glucose (GO:0009749)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein complex assembly (GO:0007183)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|zygotic specification of dorsal/ventral axis (GO:0007352)	activin responsive factor complex (GO:0032444)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|SMAD2-SMAD3 protein complex (GO:0071144)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|co-SMAD binding (GO:0070410)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|phosphatase binding (GO:0019902)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|type I transforming growth factor beta receptor binding (GO:0034713)|ubiquitin protein ligase binding (GO:0031625)	p.Q407E(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1)	43						CTAGTTAGCTGATAGACGGCT	0.393																																						uc002lcy.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(3)|lung(1)|central_nervous_system(1)	5						c.(1219-1221)CAG>GAG		Sma- and Mad-related protein 2 isoform 1							101.0	98.0	99.0					18																	45371772		2203	4300	6503	SO:0001583	missense	4087				anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	activin responsive factor complex|cytosol	activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding	g.chr18:45371772G>C	U65019	CCDS11934.1	18q21	2006-11-06	2006-11-06	2004-05-26	ENSG00000175387	ENSG00000175387		"""SMADs"""	6768	protein-coding gene	gene with protein product		601366	"""MAD, mothers against decapentaplegic homolog 2 (Drosophila)"", ""SMAD, mothers against DPP homolog 2 (Drosophila)"""	MADH2		8752209, 8673135	Standard	NM_001003652		Approved	MADR2, JV18-1	uc002lcz.4	Q15796	OTTHUMG00000132652	ENST00000402690.2:c.1219C>G	18.37:g.45371772G>C	ENSP00000384449:p.Gln407Glu					SMAD2_uc002lcz.2_Missense_Mutation_p.Q407E|SMAD2_uc010xdc.1_Missense_Mutation_p.Q377E|SMAD2_uc010xdd.1_Missense_Mutation_p.Q377E	p.Q407E	NM_005901	NP_005892	Q15796	SMAD2_HUMAN			10	1467	-			407			MH2.			Missense_Mutation	SNP	ENST00000402690.2	37	c.1219C>G	CCDS11934.1	.	.	.	.	.	.	.	.	.	.	G	9.225	1.034277	0.19590	.	.	ENSG00000175387	ENST00000262160;ENST00000356825;ENST00000402690	D;D;D	0.97016	-4.21;-4.21;-4.21	5.78	5.78	0.91487	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.000000	0.85682	D	0.000000	D	0.85961	0.5819	N	0.00473	-1.45	0.80722	D	1	P;B;P	0.47762	0.9;0.0;0.743	B;B;B	0.41860	0.368;0.002;0.267	D	0.87862	0.2665	10	0.02654	T	1	.	20.0204	0.97499	0.0:0.0:1.0:0.0	.	377;377;407	B7Z5N5;Q15796-2;Q15796	.;.;SMAD2_HUMAN	E	407;377;407	ENSP00000262160:Q407E;ENSP00000349282:Q377E;ENSP00000384449:Q407E	ENSP00000262160:Q407E	Q	-	1	0	SMAD2	43625770	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	9.869000	0.99810	2.729000	0.93468	0.650000	0.86243	CAG		PASS	0.393	SMAD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450571.1	NM_005901		58	164	58	164	---	---	---	---
MEX3C	51320	broad.mit.edu	37	18	48703446	48703446	+	5'UTR	SNP	C	C	T			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr18:48703446C>T	ENST00000591040.1	-	0	543							Q5U5Q3	MEX3C_HUMAN	mex-3 RNA binding family member C						chondrocyte hypertrophy (GO:0003415)|energy homeostasis (GO:0097009)|regulation of fat cell differentiation (GO:0045598)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.G224S(1)|p.G419S(1)		endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|skin(1)	17		Colorectal(6;0.003)|all_epithelial(6;0.0473)		Colorectal(16;0.0175)|READ - Rectum adenocarcinoma(32;0.15)		CCAAGAGTGCCACCTTCAAAG	0.428																																						uc002lfc.3																			2	Substitution - Missense(2)		lung(2)	lung(2)|ovary(1)|skin(1)	4						c.(1255-1257)GGC>AGC		ring finger and KH domain containing 2							101.0	95.0	97.0					18																	48703446		2203	4300	6503	SO:0001623	5_prime_UTR_variant	51320					cytoplasm|nucleus	RNA binding|zinc ion binding	g.chr18:48703446C>T	BC041122	CCDS11951.2	18q21.1	2013-08-21	2013-08-21	2007-07-18	ENSG00000176624	ENSG00000176624		"""RING-type (C3HC4) zinc fingers"", ""Mex-3 homologs"""	28040	protein-coding gene	gene with protein product		611005	"""ring finger and KH domain containing 2"", ""mex-3 homolog C (C. elegans)"""	RKHD2		17267406	Standard	NM_016626		Approved	FLJ38871, RNF194	uc002lfc.4	Q5U5Q3	OTTHUMG00000132693	ENST00000591040.1:c.-256G>A	18.37:g.48703446C>T							p.G419S	NM_016626	NP_057710	Q5U5Q3	MEX3C_HUMAN		Colorectal(16;0.0175)|READ - Rectum adenocarcinoma(32;0.15)	2	1255	-		Colorectal(6;0.003)|all_epithelial(6;0.0473)	419					A1L022|Q9NZE3	Missense_Mutation	SNP	ENST00000591040.1	37	c.1255G>A		.	.	.	.	.	.	.	.	.	.	C	13.14	2.147552	0.37923	.	.	ENSG00000176624	ENST00000406189	T	0.33654	1.4	5.97	5.97	0.96955	.	0.101437	0.64402	D	0.000004	T	0.51719	0.1691	L	0.51914	1.62	0.58432	D	0.99999	D	0.89917	1.0	D	0.87578	0.998	T	0.34204	-0.9838	10	0.05436	T	0.98	-9.6284	19.2102	0.93751	0.0:1.0:0.0:0.0	.	419	Q5U5Q3	MEX3C_HUMAN	S	419	ENSP00000385610:G419S	ENSP00000385610:G419S	G	-	1	0	MEX3C	46957444	0.986000	0.35501	1.000000	0.80357	0.999000	0.98932	2.310000	0.43708	2.836000	0.97738	0.655000	0.94253	GGC		PASS	0.428	MEX3C-003	KNOWN	mRNA_end_NF|basic	processed_transcript	protein_coding	OTTHUMT00000449559.1	NM_016626		36	136	36	136	---	---	---	---
GDF15	9518	broad.mit.edu	37	19	18497103	18497103	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr19:18497103C>T	ENST00000252809.3	+	1	136	c.104C>T	c.(103-105)gCg>gTg	p.A35V	MIR3189_ENST00000578735.1_RNA	NM_004864.2	NP_004855.2	Q99988	GDF15_HUMAN	growth differentiation factor 15	35					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cytokine activity (GO:0005125)	p.A35V(1)		kidney(2)|large_intestine(1)|liver(1)|lung(5)|prostate(2)|skin(1)	12						CTGGCCGAGGCGAGCCGCGCA	0.637																																						uc002niv.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(103-105)GCG>GTG		growth differentiation factor 15							34.0	37.0	36.0					19																	18497103		2203	4300	6503	SO:0001583	missense	9518				cell-cell signaling|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	g.chr19:18497103C>T	BC008962	CCDS12376.1	19p13.11	2008-05-14				ENSG00000130513			30142	protein-coding gene	gene with protein product	"""prostate differentiation factor"""	605312				11895857, 9593718	Standard	NM_004864		Approved	PLAB, MIC-1, PDF, MIC1, NAG-1, PTGFB	uc002niv.2	Q99988		ENST00000252809.3:c.104C>T	19.37:g.18497103C>T	ENSP00000252809:p.Ala35Val					hsa-mir-3189|MI0014233_5'Flank	p.A35V	NM_004864	NP_004855	Q99988	GDF15_HUMAN			1	136	+			35					O14629|P78360|Q9BWA0|Q9NRT0	Missense_Mutation	SNP	ENST00000252809.3	37	c.104C>T	CCDS12376.1	.	.	.	.	.	.	.	.	.	.	C	12.69	2.014819	0.35511	.	.	ENSG00000130513	ENST00000252809	T	0.81415	-1.49	4.23	2.09	0.27110	.	1.240590	0.06117	N	0.668297	T	0.59582	0.2204	N	0.08118	0	0.09310	N	1	B	0.28439	0.212	B	0.16289	0.015	T	0.47923	-0.9079	10	0.28530	T	0.3	-5.3942	4.5254	0.11980	0.6875:0.2035:0.109:0.0	.	35	Q99988	GDF15_HUMAN	V	35	ENSP00000252809:A35V	ENSP00000252809:A35V	A	+	2	0	GDF15	18358103	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-0.607000	0.05648	0.157000	0.19338	-0.802000	0.03209	GCG		PASS	0.637	GDF15-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466340.2	NM_004864		17	46	17	46	---	---	---	---
CEACAM20	125931	broad.mit.edu	37	19	45017314	45017314	+	RNA	SNP	G	G	A			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr19:45017314G>A	ENST00000454753.1	-	0	1622							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral component of membrane (GO:0016021)		p.I448I(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				CAATACCAGCGATGGCCCCTG	0.567											OREG0025538	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc010ejn.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(2)	2						c.(1342-1344)ATC>ATT		carcinoembryonic antigen-related cell adhesion							67.0	68.0	68.0					19																	45017314		2018	4169	6187			125931					integral to membrane		g.chr19:45017314G>A	AY358129	CCDS74390.1, CCDS74391.1, CCDS74392.1, CCDS74393.1	19q13.31	2013-01-30			ENSG00000176395	ENSG00000273777		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	24879	protein-coding gene	gene with protein product						12975309	Standard	NM_001102600		Approved	UNQ9366	uc010ejo.1	Q6UY09	OTTHUMG00000151532		19.37:g.45017314G>A			OREG0025538	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	928	CEACAM20_uc010ejo.1_Silent_p.I448I|CEACAM20_uc010ejp.1_Silent_p.I355I|CEACAM20_uc010ejq.1_Silent_p.I355I	p.I448I	NM_001102597	NP_001096067	Q6UY09	CEA20_HUMAN			7	1360	-		Prostate(69;0.0352)	448			Extracellular (Potential).			Silent	SNP	ENST00000454753.1	37	c.1344C>T																																																																																					PASS	0.567	CEACAM20-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000323032.1	NM_198444		15	32	15	32	---	---	---	---
RUVBL2	10856	broad.mit.edu	37	19	49507558	49507558	+	Silent	SNP	C	C	T			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr19:49507558C>T	ENST00000595090.1	+	4	612	c.148C>T	c.(148-150)Ctg>Ttg	p.L50L	RUVBL2_ENST00000413176.2_Silent_p.L5L|RUVBL2_ENST00000601968.1_Silent_p.L5L	NM_006666.1	NP_006657.1	Q9Y230	RUVB2_HUMAN	RuvB-like AAA ATPase 2	50					ATP catabolic process (GO:0006200)|cellular response to estradiol stimulus (GO:0071392)|cellular response to UV (GO:0034644)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|establishment of protein localization to chromatin (GO:0071169)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of estrogen receptor binding (GO:0071899)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein folding (GO:0006457)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)|transcriptional activation by promoter-enhancer looping (GO:0071733)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Ino80 complex (GO:0031011)|intracellular (GO:0005622)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|NuA4 histone acetyltransferase complex (GO:0035267)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent DNA helicase activity (GO:0004003)|chromatin DNA binding (GO:0031490)|damaged DNA binding (GO:0003684)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|unfolded protein binding (GO:0051082)	p.L50L(1)		large_intestine(1)|upper_aerodigestive_tract(1)	2		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		GGTGGGTCAGCTGGCGGCACG	0.632																																						uc002plr.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(148-150)CTG>TTG		RuvB-like 2							40.0	48.0	45.0					19																	49507558		1979	4126	6105	SO:0001819	synonymous_variant	10856				cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding	g.chr19:49507558C>T	AF155138	CCDS42588.1	19q13.3	2013-09-12	2013-09-12					"""INO80 complex subunits"", ""ATPases / AAA-type"""	10475	protein-coding gene	gene with protein product	"""reptin"", ""INO80 complex subunit J"""	604788	"""RuvB (E coli homolog)-like 2"", ""RuvB-like 2 (E. coli)"""			10428817, 10998447	Standard	XM_005258426		Approved	RVB2, TIP48, TIP49b, Reptin52, ECP51, TIH2, INO80J, Rvb2	uc002plr.1	Q9Y230		ENST00000595090.1:c.148C>T	19.37:g.49507558C>T						RUVBL2_uc002plq.1_Silent_p.L5L|RUVBL2_uc010yab.1_Silent_p.L50L|RUVBL2_uc002pls.1_RNA|RUVBL2_uc010emn.1_Silent_p.L5L|RUVBL2_uc010yac.1_Silent_p.L5L	p.L50L	NM_006666	NP_006657	Q9Y230	RUVB2_HUMAN		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)	4	161	+		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	50					B3KQ59|E7ETE5|Q6FIB9|Q6PK27|Q9Y361	Silent	SNP	ENST00000595090.1	37	c.148C>T	CCDS42588.1																																																																																				PASS	0.632	RUVBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466235.1			5	71	5	71	---	---	---	---
ZNF836	162962	broad.mit.edu	37	19	52659421	52659421	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr19:52659421T>A	ENST00000322146.8	-	5	2036	c.1515A>T	c.(1513-1515)aaA>aaT	p.K505N	CTC-471J1.8_ENST00000594362.1_RNA|ZNF836_ENST00000597252.1_Missense_Mutation_p.K505N	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	505					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K505N(2)		endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GTTTAAAGGCTTTACCACATT	0.403																																						uc010ydi.1																			2	Substitution - Missense(2)		lung(2)		0						c.(1513-1515)AAA>AAT		zinc finger protein 836							70.0	78.0	75.0					19																	52659421		2198	4299	6497	SO:0001583	missense	162962				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52659421T>A	BC011784	CCDS46162.1	19q13.33	2013-01-08			ENSG00000196267	ENSG00000196267		"""Zinc fingers, C2H2-type"", ""-"""	34333	protein-coding gene	gene with protein product							Standard	NM_001102657		Approved	FLJ16287	uc010ydj.2	Q6ZNA1		ENST00000322146.8:c.1515A>T	19.37:g.52659421T>A	ENSP00000325038:p.Lys505Asn					ZNF836_uc010ydj.1_Missense_Mutation_p.K505N	p.K505N	NM_001102657	NP_001096127	Q6ZNA1	ZN836_HUMAN			5	1889	-			505			C2H2-type 11.			Missense_Mutation	SNP	ENST00000322146.8	37	c.1515A>T	CCDS46162.1	.	.	.	.	.	.	.	.	.	.	T	12.85	2.062770	0.36373	.	.	ENSG00000196267	ENST00000322146	T	0.27890	1.64	2.09	-4.17	0.03857	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.52581	0.1743	M	0.83312	2.635	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.50775	-0.8788	9	0.66056	D	0.02	.	10.1591	0.42840	0.0:0.6293:0.0:0.3707	.	505	Q6ZNA1	ZN836_HUMAN	N	505	ENSP00000325038:K505N	ENSP00000325038:K505N	K	-	3	2	ZNF836	57351233	0.000000	0.05858	0.003000	0.11579	0.009000	0.06853	-0.807000	0.04520	-1.459000	0.01914	-0.532000	0.04303	AAA		PASS	0.403	ZNF836-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462456.1	NM_001102657		6	60	6	60	---	---	---	---
ZNF468	90333	broad.mit.edu	37	19	53345176	53345176	+	Missense_Mutation	SNP	C	C	A	rs61732713	byFrequency	TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr19:53345176C>A	ENST00000595646.1	-	4	491	c.371G>T	c.(370-372)gGc>gTc	p.G124V	ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000390651.4_Missense_Mutation_p.G71V|ZNF468_ENST00000396409.4_Missense_Mutation_p.G71V|ZNF468_ENST00000243639.4_3'UTR			Q5VIY5	ZN468_HUMAN	zinc finger protein 468	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)	p.G124V(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		ATCATGTTGGCCTGTACTACC	0.433																																						uc002qaf.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(370-372)GGC>GTC		zinc finger protein ZNF468 isoform 2							214.0	194.0	201.0					19																	53345176		2203	4300	6503	SO:0001583	missense	90333				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53345176C>A	AK023558	CCDS33094.1, CCDS62781.1	19q13.41	2013-01-08				ENSG00000204604		"""Zinc fingers, C2H2-type"", ""-"""	33105	protein-coding gene	gene with protein product						16144304	Standard	NM_001277120		Approved		uc002qaf.3	Q5VIY5		ENST00000595646.1:c.371G>T	19.37:g.53345176C>A	ENSP00000470381:p.Gly124Val					ZNF468_uc002qae.2_Missense_Mutation_p.G71V	p.G124V	NM_001008801	NP_001008801	Q5VIY5	ZN468_HUMAN		GBM - Glioblastoma multiforme(134;0.0358)	4	522	-			124					A8MV20|Q5CZB8|Q5VIY4|Q68DI7	Missense_Mutation	SNP	ENST00000595646.1	37	c.371G>T	CCDS33094.1	.	.	.	.	.	.	.	.	.	.	t	2.745	-0.261317	0.05791	.	.	ENSG00000204604	ENST00000243639;ENST00000396409;ENST00000390651	T;T	0.06933	3.24;3.24	1.2	-1.3	0.09259	.	.	.	.	.	T	0.03520	0.0101	N	0.03154	-0.405	0.09310	N	1	B	0.16166	0.016	B	0.21708	0.036	T	0.43130	-0.9410	9	0.42905	T	0.14	.	6.147	0.20291	0.0:0.6339:0.0:0.3661	.	124	Q5VIY5	ZN468_HUMAN	V	124;71;71	ENSP00000379690:G71V;ENSP00000445669:G71V	ENSP00000243639:G124V	G	-	2	0	ZNF468	58036988	0.000000	0.05858	0.008000	0.14137	0.011000	0.07611	-2.593000	0.00897	-0.484000	0.06763	-1.197000	0.01672	GGC		PASS	0.433	ZNF468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463098.1	NM_001008801		149	194	149	194	---	---	---	---
SIGLEC1	6614	broad.mit.edu	37	20	3677923	3677923	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr20:3677923T>A	ENST00000344754.4	-	9	2188	c.2189A>T	c.(2188-2190)aAc>aTc	p.N730I	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.N730I	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	730	Ig-like C2-type 7.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.N730I(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						CCGGCTCACGTTGCAAGTCAA	0.617																																						uc002wja.2																			1	Substitution - Missense(1)		lung(1)	pancreas(4)|ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	10						c.(2188-2190)AAC>ATC		sialoadhesin precursor							89.0	82.0	85.0					20																	3677923		2203	4300	6503	SO:0001583	missense	6614				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr20:3677923T>A	AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	11127	protein-coding gene	gene with protein product		600751	"""sialoadhesin"""	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.2189A>T	20.37:g.3677923T>A	ENSP00000341141:p.Asn730Ile					SIGLEC1_uc002wiz.3_Missense_Mutation_p.N730I	p.N730I	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN			9	2189	-			730			Ig-like C2-type 7.|Extracellular (Potential).		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	ENST00000344754.4	37	c.2189A>T	CCDS13060.1	.	.	.	.	.	.	.	.	.	.	T	12.95	2.092074	0.36952	.	.	ENSG00000088827	ENST00000344754;ENST00000202578	T;T	0.11712	2.75;2.75	5.31	-10.1	0.00402	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.821262	0.10481	N	0.669640	T	0.05640	0.0148	L	0.45228	1.405	0.09310	N	1	B;B	0.21381	0.055;0.021	B;B	0.17979	0.02;0.011	T	0.27262	-1.0079	10	0.37606	T	0.19	.	2.0132	0.03493	0.2269:0.393:0.2132:0.167	.	730;730	Q9BZZ2;Q9BZZ2-3	SN_HUMAN;.	I	730	ENSP00000341141:N730I;ENSP00000202578:N730I	ENSP00000202578:N730I	N	-	2	0	SIGLEC1	3625923	0.000000	0.05858	0.000000	0.03702	0.474000	0.32979	-2.390000	0.01057	-1.677000	0.01455	0.459000	0.35465	AAC		PASS	0.617	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068		45	91	45	91	---	---	---	---
AP5S1	55317	broad.mit.edu	37	20	3804819	3804819	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr20:3804819C>G	ENST00000246041.2	+	3	697	c.478C>G	c.(478-480)Ctg>Gtg	p.L160V	AP5S1_ENST00000379567.2_Missense_Mutation_p.L160V|AP5S1_ENST00000379573.2_3'UTR			Q9NUS5	AP5S1_HUMAN	adaptor-related protein complex 5, sigma 1 subunit	160					double-strand break repair via homologous recombination (GO:0000724)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-type membrane coat adaptor complex (GO:0030119)|cytoplasm (GO:0005737)|late endosome (GO:0005770)|lysosome (GO:0005764)|nucleus (GO:0005634)		p.L160V(1)									CACCAGCCTTCTGCTGCGGGC	0.632																																						uc002wjs.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(478-480)CTG>GTG		hypothetical protein LOC55317							74.0	59.0	64.0					20																	3804819		2203	4300	6503	SO:0001583	missense	55317				double-strand break repair via homologous recombination		protein binding	g.chr20:3804819C>G	AK002030	CCDS13070.1	20p13	2012-02-27	2012-02-27	2012-02-27	ENSG00000125843	ENSG00000125843			15875	protein-coding gene	gene with protein product		614824	"""chromosome 20 open reading frame 29"""	C20orf29		11780052, 22022230	Standard	NM_001204446		Approved	FLJ11168	uc002wjs.2	Q9NUS5	OTTHUMG00000031760	ENST00000246041.2:c.478C>G	20.37:g.3804819C>G	ENSP00000246041:p.Leu160Val					C20orf29_uc002wjt.2_Missense_Mutation_p.L84V|C20orf29_uc002wju.1_Missense_Mutation_p.L160V	p.L160V	NM_018347	NP_060817	Q9NUS5	CT029_HUMAN			3	656	+			160					B3KSD0|D3DVY7	Missense_Mutation	SNP	ENST00000246041.2	37	c.478C>G	CCDS13070.1	.	.	.	.	.	.	.	.	.	.	C	8.964	0.971173	0.18659	.	.	ENSG00000125843	ENST00000379567;ENST00000246041	.	.	.	5.72	0.185	0.15096	.	0.085059	0.48767	D	0.000165	T	0.54046	0.1834	L	0.46614	1.455	0.32429	N	0.548238	D	0.67145	0.996	D	0.80764	0.994	T	0.58618	-0.7605	9	0.40728	T	0.16	-12.8592	8.2045	0.31446	0.0:0.5445:0.0:0.4555	.	160	Q9NUS5	CT029_HUMAN	V	160	.	ENSP00000246041:L160V	L	+	1	2	C20orf29	3752819	0.760000	0.28428	0.978000	0.43139	0.302000	0.27658	0.251000	0.18257	-0.183000	0.10585	-0.367000	0.07326	CTG		PASS	0.632	AP5S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077768.2	NM_018347		39	53	39	53	---	---	---	---
EDEM2	55741	broad.mit.edu	37	20	33703374	33703374	+	Silent	SNP	T	T	A			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr20:33703374T>A	ENST00000374492.3	-	11	1704	c.1599A>T	c.(1597-1599)acA>acT	p.T533T	EDEM2_ENST00000374491.3_Silent_p.T496T|EDEM2_ENST00000542871.1_Silent_p.T257T|SNORD56_ENST00000364281.1_RNA|EDEM2_ENST00000541621.1_Silent_p.T312T	NM_018217.2	NP_060687.2	Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like 2	533					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.T533T(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			GTGAGAAGAGTGTTCCTGGCC	0.522																																					Esophageal Squamous(51;906 1021 24535 36410 39145)	uc002xbo.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1597-1599)ACA>ACT		ER degradation enhancer, mannosidase alpha-like							245.0	242.0	243.0					20																	33703374		2203	4300	6503	SO:0001819	synonymous_variant	55741				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	g.chr20:33703374T>A	AK001645	CCDS13247.1, CCDS46592.1	20q11.22	2006-03-31	2006-03-31	2006-03-31	ENSG00000088298	ENSG00000088298			15877	protein-coding gene	gene with protein product		610302	"""chromosome 20 open reading frame 31"""	C20orf49, C20orf31		15537790, 15579471	Standard	NM_018217		Approved	FLJ10783, bA4204.1	uc002xbo.2	Q9BV94	OTTHUMG00000032322	ENST00000374492.3:c.1599A>T	20.37:g.33703374T>A						EDEM2_uc010zus.1_Silent_p.T312T|EDEM2_uc002xbq.2_Silent_p.T496T|EDEM2_uc010zut.1_Silent_p.T492T|EDEM2_uc002xbp.2_Silent_p.T381T|EDEM2_uc002xbn.2_Silent_p.T381T|EDEM2_uc002xbr.2_RNA|EDEM2_uc010zuu.1_Silent_p.T257T	p.T533T	NM_018217	NP_060687	Q9BV94	EDEM2_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00936)		11	1699	-			533					B4DTG9|Q6GU33|Q6IA89|Q6UWZ4|Q9H4U0|Q9H886|Q9NTL9|Q9NVE6	Silent	SNP	ENST00000374492.3	37	c.1599A>T	CCDS13247.1																																																																																				PASS	0.522	EDEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078842.2	NM_018217		252	521	252	521	---	---	---	---
SOGA1	140710	broad.mit.edu	37	20	35443741	35443741	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr20:35443741C>T	ENST00000357779.3	-	5	1716	c.1390G>A	c.(1390-1392)Gag>Aag	p.E464K	SOGA1_ENST00000237536.4_Missense_Mutation_p.E702K|SOGA1_ENST00000456801.2_Missense_Mutation_p.E305K|SOGA1_ENST00000279034.6_Missense_Mutation_p.E464K			O94964	SOGA1_HUMAN	suppressor of glucose, autophagy associated 1	464					insulin receptor signaling pathway (GO:0008286)|negative regulation of gluconeogenesis (GO:0045721)|regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.E702K(3)|p.E464K(1)		endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						CTGGGGCCCTCGCTGTTGTCG	0.632																																						uc002xgd.1																			4	Substitution - Missense(4)		lung(4)		0						c.(1390-1392)GAG>AAG		hypothetical protein LOC140710 isoform 2							39.0	44.0	42.0					20																	35443741		2203	4300	6503	SO:0001583	missense	140710							g.chr20:35443741C>T	AK126630	CCDS46598.1, CCDS54459.1	20q11.23	2012-03-01	2012-02-27	2012-02-27	ENSG00000149639	ENSG00000149639			16111	protein-coding gene	gene with protein product	"""suppressor of glucose by autophagy"", ""suppressor of glucose from autophagy"""		"""chromosome 20 open reading frame 117"", ""KIAA0889"""	C20orf117, KIAA0889		20813965	Standard	NM_080627		Approved	dJ132F21.1, FLJ44670, SOGA	uc021wcx.1	O94964	OTTHUMG00000032395	ENST00000357779.3:c.1390G>A	20.37:g.35443741C>T	ENSP00000350424:p.Glu464Lys					C20orf117_uc002xge.1_RNA	p.E464K	NM_199181	NP_954650	O94964	K0889_HUMAN			5	1717	-		Myeloproliferative disorder(115;0.00874)	464					A6NK10|Q14DB2|Q5JW51|Q6ZTG8	Missense_Mutation	SNP	ENST00000357779.3	37	c.1390G>A		.	.	.	.	.	.	.	.	.	.	C	20.3	3.967796	0.74131	.	.	ENSG00000149639	ENST00000237536;ENST00000279034;ENST00000456801;ENST00000357779	T;T;T;T	0.21543	2.01;2.0;2.05;2.03	4.86	4.86	0.63082	.	0.124138	0.53938	D	0.000044	T	0.37812	0.1017	M	0.66939	2.045	0.45477	D	0.998441	D	0.60575	0.988	P	0.56865	0.808	T	0.06303	-1.0834	10	0.20519	T	0.43	-36.7954	16.9211	0.86164	0.0:1.0:0.0:0.0	.	464	O94964-4	.	K	702;464;305;464	ENSP00000237536:E702K;ENSP00000279034:E464K;ENSP00000413886:E305K;ENSP00000350424:E464K	ENSP00000237536:E702K	E	-	1	0	KIAA0889	34877155	0.997000	0.39634	1.000000	0.80357	0.976000	0.68499	3.564000	0.53791	2.527000	0.85204	0.561000	0.74099	GAG		PASS	0.632	SOGA1-201	KNOWN	basic	protein_coding	protein_coding		NM_199181		20	46	20	46	---	---	---	---
SOGA1	140710	broad.mit.edu	37	20	35444170	35444170	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr20:35444170C>T	ENST00000357779.3	-	5	1287	c.961G>A	c.(961-963)Gag>Aag	p.E321K	SOGA1_ENST00000237536.4_Missense_Mutation_p.E559K|SOGA1_ENST00000456801.2_Missense_Mutation_p.E162K|SOGA1_ENST00000279034.6_Missense_Mutation_p.E321K			O94964	SOGA1_HUMAN	suppressor of glucose, autophagy associated 1	321					insulin receptor signaling pathway (GO:0008286)|negative regulation of gluconeogenesis (GO:0045721)|regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.E559K(3)|p.E321K(1)		endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						CAACTGTCCTCCGACAGCGCC	0.637																																						uc002xgd.1																			4	Substitution - Missense(4)		lung(4)		0						c.(961-963)GAG>AAG		hypothetical protein LOC140710 isoform 2							16.0	18.0	17.0					20																	35444170		2161	4272	6433	SO:0001583	missense	140710							g.chr20:35444170C>T	AK126630	CCDS46598.1, CCDS54459.1	20q11.23	2012-03-01	2012-02-27	2012-02-27	ENSG00000149639	ENSG00000149639			16111	protein-coding gene	gene with protein product	"""suppressor of glucose by autophagy"", ""suppressor of glucose from autophagy"""		"""chromosome 20 open reading frame 117"", ""KIAA0889"""	C20orf117, KIAA0889		20813965	Standard	NM_080627		Approved	dJ132F21.1, FLJ44670, SOGA	uc021wcx.1	O94964	OTTHUMG00000032395	ENST00000357779.3:c.961G>A	20.37:g.35444170C>T	ENSP00000350424:p.Glu321Lys					C20orf117_uc002xge.1_RNA	p.E321K	NM_199181	NP_954650	O94964	K0889_HUMAN			5	1288	-		Myeloproliferative disorder(115;0.00874)	321					A6NK10|Q14DB2|Q5JW51|Q6ZTG8	Missense_Mutation	SNP	ENST00000357779.3	37	c.961G>A		.	.	.	.	.	.	.	.	.	.	C	16.82	3.227470	0.58668	.	.	ENSG00000149639	ENST00000237536;ENST00000279034;ENST00000456801;ENST00000357779	T;T;T;T	0.18657	2.2;2.22;2.21;2.22	5.09	5.09	0.68999	.	0.304014	0.32015	N	0.006714	T	0.27313	0.0670	L	0.46157	1.445	0.32664	N	0.517698	P	0.41313	0.745	P	0.47915	0.561	T	0.07481	-1.0770	10	0.10636	T	0.68	-33.4135	17.4201	0.87512	0.0:1.0:0.0:0.0	.	321	O94964-4	.	K	559;321;162;321	ENSP00000237536:E559K;ENSP00000279034:E321K;ENSP00000413886:E162K;ENSP00000350424:E321K	ENSP00000237536:E559K	E	-	1	0	KIAA0889	34877584	0.913000	0.31002	0.993000	0.49108	0.592000	0.36648	1.915000	0.39976	2.647000	0.89833	0.655000	0.94253	GAG		PASS	0.637	SOGA1-201	KNOWN	basic	protein_coding	protein_coding		NM_199181		7	7	7	7	---	---	---	---
KIAA1755	85449	broad.mit.edu	37	20	36845707	36845707	+	Missense_Mutation	SNP	C	C	T	rs367812234		TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr20:36845707C>T	ENST00000279024.4	-	13	3120	c.2849G>A	c.(2848-2850)cGg>cAg	p.R950Q		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	950								p.R950Q(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				CGTGCGTTGCCGCTCGGCCGC	0.667																																						uc002xhy.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)	5						c.(2848-2850)CGG>CAG		hypothetical protein LOC85449							36.0	33.0	34.0					20																	36845707		2202	4298	6500	SO:0001583	missense	85449							g.chr20:36845707C>T	AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.2849G>A	20.37:g.36845707C>T	ENSP00000279024:p.Arg950Gln					KIAA1755_uc002xhv.1_5'UTR|KIAA1755_uc002xhw.1_Missense_Mutation_p.R5Q|KIAA1755_uc002xhx.1_Missense_Mutation_p.R228Q	p.R950Q	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN			13	3121	-		Myeloproliferative disorder(115;0.00874)	950					Q9C0A8	Missense_Mutation	SNP	ENST00000279024.4	37	c.2849G>A	CCDS33467.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.297470	0.81025	.	.	ENSG00000149633	ENST00000279024;ENST00000373398;ENST00000435901	T;T	0.25579	3.2;1.79	4.7	4.7	0.59300	.	0.000000	0.42821	D	0.000644	T	0.48857	0.1523	M	0.71581	2.175	0.41757	D	0.989699	D;D	0.89917	1.0;1.0	D;D	0.91635	0.992;0.999	T	0.40646	-0.9552	10	0.31617	T	0.26	.	15.1826	0.72972	0.0:1.0:0.0:0.0	.	950;458	Q5JYT7;E9PFS1	K1755_HUMAN;.	Q	950;458;249	ENSP00000279024:R950Q;ENSP00000393503:R249Q	ENSP00000279024:R950Q	R	-	2	0	KIAA1755	36279121	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	3.289000	0.51747	2.451000	0.82905	0.561000	0.74099	CGG		PASS	0.667	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079144.3	NM_001029864		10	10	10	10	---	---	---	---
PPP1R16B	26051	broad.mit.edu	37	20	37535686	37535686	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr20:37535686A>G	ENST00000299824.1	+	8	1076	c.887A>G	c.(886-888)gAg>gGg	p.E296G	PPP1R16B_ENST00000373331.2_Missense_Mutation_p.E254G	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	296					regulation of filopodium assembly (GO:0051489)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)	p.E296G(1)		biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				TCCATGGATGAGATGCCAATA	0.458																																						uc002xje.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|kidney(1)|skin(1)	3						c.(886-888)GAG>GGG		protein phosphatase 1 regulatory inhibitor							171.0	155.0	160.0					20																	37535686		2203	4300	6503	SO:0001583	missense	26051				regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding	g.chr20:37535686A>G	AB020630	CCDS13309.1, CCDS54462.1	20q11.23	2013-01-10	2011-10-04		ENSG00000101445	ENSG00000101445		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	15850	protein-coding gene	gene with protein product	"""TGF-beta-inhibited membrane-associated protein"", ""ankyrin repeat domain protein 4"""	613275	"""protein phosphatase 1, regulatory (inhibitor) subunit 16B"""			10048485, 12055102	Standard	NM_001172735		Approved	KIAA0823, TIMAP, ANKRD4	uc002xje.3	Q96T49	OTTHUMG00000032465	ENST00000299824.1:c.887A>G	20.37:g.37535686A>G	ENSP00000299824:p.Glu296Gly					PPP1R16B_uc010ggc.2_Missense_Mutation_p.E254G	p.E296G	NM_015568	NP_056383	Q96T49	PP16B_HUMAN			8	1076	+		Myeloproliferative disorder(115;0.00878)	296					A2RRR6|E9PFS8|O94912|Q5W9G4|Q9NQG4	Missense_Mutation	SNP	ENST00000299824.1	37	c.887A>G	CCDS13309.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.1|20.1	3.939557|3.939557	0.73557|0.73557	.|.	.|.	ENSG00000101445|ENSG00000101445	ENST00000299824;ENST00000373331|ENST00000438192	T;T|.	0.54279|.	0.58;0.58|.	5.52|5.52	5.52|5.52	0.82312|0.82312	Ankyrin repeat-containing domain (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.68035|0.68035	0.2957|0.2957	L|L	0.52573|0.52573	1.65|1.65	0.80722|0.80722	D|D	1|1	P;D|.	0.62365|.	0.93;0.991|.	P;P|.	0.58454|.	0.542;0.839|.	T|T	0.66031|0.66031	-0.6024|-0.6024	10|5	0.54805|.	T|.	0.06|.	.|.	15.3484|15.3484	0.74363|0.74363	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	254;296|.	E9PFS8;Q96T49|.	.;PP16B_HUMAN|.	G|G	296;254|197	ENSP00000299824:E296G;ENSP00000362428:E254G|.	ENSP00000299824:E296G|.	E|R	+|+	2|1	0|2	PPP1R16B|PPP1R16B	36969100|36969100	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	9.126000|9.126000	0.94411|0.94411	2.092000|2.092000	0.63282|0.63282	0.529000|0.529000	0.55759|0.55759	GAG|AGA		PASS	0.458	PPP1R16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079220.2	NM_015568		46	134	46	134	---	---	---	---
TLR7	51284	broad.mit.edu	37	X	12904872	12904872	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chrX:12904872C>A	ENST00000380659.3	+	3	1384	c.1245C>A	c.(1243-1245)agC>agA	p.S415R		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	415					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|single-stranded RNA binding (GO:0003727)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)	p.S415R(1)		NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Hydroxychloroquine(DB01611)|Imiquimod(DB00724)	CTAACCTCAGCATGTTTAAAC	0.328																																						uc004cvc.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)|breast(1)	5						c.(1243-1245)AGC>AGA		toll-like receptor 7 precursor	Imiquimod(DB00724)						59.0	65.0	63.0					X																	12904872		2200	4297	6497	SO:0001583	missense	51284				cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity	g.chrX:12904872C>A	AF240467	CCDS14151.1	Xp22.3	2008-02-05			ENSG00000196664	ENSG00000196664			15631	protein-coding gene	gene with protein product		300365				11022119	Standard	NM_016562		Approved		uc004cvc.3	Q9NYK1	OTTHUMG00000021137	ENST00000380659.3:c.1245C>A	X.37:g.12904872C>A	ENSP00000370034:p.Ser415Arg						p.S415R	NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN			3	1384	+			415			Extracellular (Potential).|LRR 14.		D1CS69|Q9NR98	Missense_Mutation	SNP	ENST00000380659.3	37	c.1245C>A	CCDS14151.1	.	.	.	.	.	.	.	.	.	.	C	4.383	0.070665	0.08436	.	.	ENSG00000196664	ENST00000380659	T	0.44083	0.93	5.69	0.648	0.17801	.	0.094233	0.64402	D	0.000001	T	0.27278	0.0669	L	0.45137	1.4	0.28180	N	0.928227	B	0.10296	0.003	B	0.15870	0.014	T	0.12837	-1.0532	10	0.46703	T	0.11	.	1.9498	0.03364	0.1094:0.2784:0.2065:0.4056	.	415	Q9NYK1	TLR7_HUMAN	R	415	ENSP00000370034:S415R	ENSP00000370034:S415R	S	+	3	2	TLR7	12814793	0.004000	0.15560	0.888000	0.34837	0.664000	0.39144	-0.158000	0.10070	0.201000	0.20466	0.600000	0.82982	AGC		PASS	0.328	TLR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055769.1	NM_016562		31	34	31	34	---	---	---	---
MAGEB1	4112	broad.mit.edu	37	X	30268617	30268617	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chrX:30268617C>T	ENST00000378981.3	+	4	328	c.7C>T	c.(7-9)Cgg>Tgg	p.R3W	MAGEB1_ENST00000397548.2_Missense_Mutation_p.R3W|MAGEB1_ENST00000397550.1_Missense_Mutation_p.R3W	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	3								p.R3W(1)		NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						CATCATGCCTCGGGGTCAGAA	0.557																																						uc004dcc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(7-9)CGG>TGG		melanoma antigen family B, 1							36.0	29.0	31.0					X																	30268617		2202	4300	6502	SO:0001583	missense	4112							g.chrX:30268617C>T		CCDS14222.1	Xp21.3	2009-03-17			ENSG00000214107	ENSG00000214107			6808	protein-coding gene	gene with protein product	"""DSS/AHC critical interval MAGE superfamily 10"", ""cancer/testis antigen family 3, member 1"""	300097				7761436, 9441743	Standard	NM_002363		Approved	MAGEL1, MAGE-Xp, DAM10, MGC9322, CT3.1	uc004dce.3	P43366	OTTHUMG00000021322	ENST00000378981.3:c.7C>T	X.37:g.30268617C>T	ENSP00000368264:p.Arg3Trp					MAGEB1_uc004dcd.2_Missense_Mutation_p.R3W|MAGEB1_uc004dce.2_Missense_Mutation_p.R3W	p.R3W	NM_002363	NP_002354	P43366	MAGB1_HUMAN			4	327	+			3					B2RC79|O00601|O75862|Q6FHJ0|Q96CW8	Missense_Mutation	SNP	ENST00000378981.3	37	c.7C>T	CCDS14222.1	.	.	.	.	.	.	.	.	.	.	C	13.29	2.194215	0.38707	.	.	ENSG00000214107	ENST00000378981;ENST00000397550;ENST00000397548	T;T;T	0.08193	3.12;3.12;3.12	3.99	3.09	0.35607	Melanoma associated antigen, MAGE, N-terminal (1);	0.399180	0.24925	N	0.034511	T	0.34600	0.0903	H	0.94771	3.58	0.23972	N	0.996301	D	0.89917	1.0	D	0.97110	1.0	T	0.20739	-1.0266	10	0.72032	D	0.01	.	7.7082	0.28663	0.2593:0.7407:0.0:0.0	.	3	P43366	MAGB1_HUMAN	W	3	ENSP00000368264:R3W;ENSP00000380683:R3W;ENSP00000380681:R3W	ENSP00000368264:R3W	R	+	1	2	MAGEB1	30178538	0.890000	0.30428	0.571000	0.28486	0.183000	0.23260	0.893000	0.28336	0.981000	0.38548	0.600000	0.82982	CGG		PASS	0.557	MAGEB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056160.1	NM_002363		16	4	16	4	---	---	---	---
ZCCHC12	170261	broad.mit.edu	37	X	117960244	117960244	+	Missense_Mutation	SNP	G	G	T	rs201023696		TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chrX:117960244G>T	ENST00000310164.2	+	4	1544	c.1037G>T	c.(1036-1038)cGc>cTc	p.R346L		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	346					BMP signaling pathway (GO:0030509)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.R346L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						CACACAATCCGCTGTTCGTAT	0.493																																						uc004equ.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1036-1038)CGC>CTC		zinc finger, CCHC domain containing 12		G	LEU/ARG	1,3834		0,0,1,1632,570	119.0	93.0	102.0		1037	-0.1	0.0	X		102	0,6728		0,0,0,2428,1872	no	missense	ZCCHC12	NM_173798.2	102	0,0,1,4060,2442	TT,TG,T,GG,G		0.0,0.0261,0.0095	benign	346/403	117960244	1,10562	2203	4300	6503	SO:0001583	missense	170261				regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding	g.chrX:117960244G>T	AK122676	CCDS14574.1	Xq24	2013-10-11			ENSG00000174460	ENSG00000174460		"""Zinc fingers, CCHC domain containing"", ""Paraneoplastic Ma antigens"""	27273	protein-coding gene	gene with protein product	"""paraneoplastic Ma antigen family member 7A"""	300701				21739307, 19578717	Standard	NM_173798		Approved	FLJ16123, SIZN, SIZN1, PNMA7A	uc004equ.3	Q6PEW1	OTTHUMG00000022261	ENST00000310164.2:c.1037G>T	X.37:g.117960244G>T	ENSP00000308921:p.Arg346Leu						p.R346L	NM_173798	NP_776159	Q6PEW1	ZCH12_HUMAN			4	1510	+			346			CCHC-type.		B3KV48|Q6PID5|Q8N1C1	Missense_Mutation	SNP	ENST00000310164.2	37	c.1037G>T	CCDS14574.1	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.059350	0.00386	2.61E-4	0.0	ENSG00000174460	ENST00000310164	T	0.75704	-0.96	3.3	-0.12	0.13539	Zinc finger, CCHC retroviral-type (1);Zinc finger, CCHC-type (1);	.	.	.	.	T	0.64294	0.2585	M	0.68317	2.08	0.09310	N	1	B	0.23185	0.081	B	0.23150	0.044	T	0.48210	-0.9055	9	0.09843	T	0.71	1.2519	5.5665	0.17173	0.554:0.0:0.446:0.0	.	346	Q6PEW1	ZCH12_HUMAN	L	346	ENSP00000308921:R346L	ENSP00000308921:R346L	R	+	2	0	ZCCHC12	117844272	0.002000	0.14202	0.006000	0.13384	0.063000	0.16089	-0.103000	0.10940	-0.142000	0.11354	0.600000	0.82982	CGC		PASS	0.493	ZCCHC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058014.1	NM_173798		93	51	93	51	---	---	---	---
SEPT7	989	broad.mit.edu	37	7	35942747	35942747	+	Frame_Shift_Del	DEL	A	A	-			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr7:35942747delA	ENST00000435235.1	+	12	1469	c.1037delA	c.(1036-1038)gaafs	p.E346fs	SEPT7_ENST00000494488.2_3'UTR|SEPT7_ENST00000432293.2_Frame_Shift_Del_p.E50fs|SEPT7_ENST00000399034.2_Frame_Shift_Del_p.E400fs|SEPT7_ENST00000350320.6_Frame_Shift_Del_p.E398fs|SEPT7_ENST00000399035.3_Frame_Shift_Del_p.E398fs			Q16181	SEPT7_HUMAN	septin 7	399					cilium morphogenesis (GO:0060271)|cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein heterooligomerization (GO:0051291)|regulation of embryonic cell shape (GO:0016476)	actin cytoskeleton (GO:0015629)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|septin complex (GO:0031105)|stress fiber (GO:0001725)	GTP binding (GO:0005525)|identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)	14						GAATTGGAGGAAAAACGTCGT	0.373																																						uc010kxc.2																			0					0						c.(1195-1197)GAAfs		cell division cycle 10 isoform 1							50.0	50.0	50.0					7																	35942747		1843	4088	5931	SO:0001589	frameshift_variant	989				cilium morphogenesis|cytokinesis|mitosis|protein heterooligomerization|regulation of embryonic cell shape	cilium axoneme|cleavage furrow|condensed chromosome kinetochore|midbody|nucleus|septin complex|spindle|stress fiber	GTP binding|protein binding|structural molecule activity	g.chr7:35942747delA	S72008	CCDS75582.1	7p14.2	2013-01-21	2005-01-11	2005-01-12	ENSG00000122545	ENSG00000122545		"""Septins"""	1717	protein-coding gene	gene with protein product		603151	"""CDC10 cell division cycle 10 homolog (S. cerevisiae)"""	CDC10		8037772	Standard	NM_001788		Approved	CDC3, SEPT7A	uc011kau.2	Q16181	OTTHUMG00000155063	ENST00000435235.1:c.1037delA	7.37:g.35942747delA	ENSP00000413507:p.Glu346fs					SEPT7_uc011kat.1_Frame_Shift_Del_p.E398fs|SEPT7_uc011kau.1_Frame_Shift_Del_p.E363fs|SEPT7_uc011kav.1_Frame_Shift_Del_p.E346fs|SEPT7_uc003tey.2_Frame_Shift_Del_p.E247fs	p.E399fs	NM_001788	NP_001779	Q16181	SEPT7_HUMAN			12	1389	+			399			Potential.		Q52M76|Q6NX50	Frame_Shift_Del	DEL	ENST00000435235.1	37	c.1196delA																																																																																						0.373	SEPT7-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000338285.1	NM_001788		4	2	4	2	---	---	---	---
EPPK1	83481	broad.mit.edu	37	8	144940080	144940081	+	3'UTR	DEL	AC	AC	-	rs201674242|rs60421625		TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr8:144940080_144940081delAC	ENST00000525985.1	-	0	7412_7413							P58107	EPIPL_HUMAN	epiplakin 1							cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			aaaaaaaaaaacaaaaaaaaaa	0.376																																						uc003zaa.1																			0				pancreas(1)|skin(1)	2						c.e3-1		epiplakin 1																																				SO:0001624	3_prime_UTR_variant	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144940080_144940081delAC	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.*79GT>-	8.37:g.144940080_144940081delAC								NM_031308	NP_112598	P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		3	15358	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)							Q76E58|Q9NSU9	Splice_Site	DEL	ENST00000525985.1	37	c.15345_splice																																																																																						0.376	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		3	3	3	3	---	---	---	---
CXADRP3	440224	broad.mit.edu	37	18	14479164	14479164	+	lincRNA	DEL	C	C	-			TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr18:14479164delC	ENST00000581457.1	-	0	744					NR_024076.1				coxsackie virus and adenovirus receptor pseudogene 3																		TAGGTAGTTTCCCCTTTGGCT	0.507																																						uc010xai.1																			0					0								Homo sapiens cDNA clone IMAGE:30390722, containing frame-shift errors.																																						440224							g.chr18:14479164delC			18p11.21	2013-09-19			ENSG00000265766	ENSG00000265766			33974	pseudogene	pseudogene							Standard	NR_024076		Approved		uc010xai.2		OTTHUMG00000178700		18.37:g.14479164delC								NR_024076						3		-									RNA	DEL	ENST00000581457.1	37	c.400delG																																																																																						0.507	CXADRP3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000443008.1	NR_024076		48	24	48	24	---	---	---	---
ZCCHC3	85364	broad.mit.edu	37	20	278688	278690	+	In_Frame_Del	DEL	CGG	CGG	-	rs11468351|rs5839847|rs6147263	byFrequency	TCGA-66-2794-01A-01D-1267-08	TCGA-66-2794-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c58fa70-8fef-4a49-8cde-bfdc92e77919	2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0	g.chr20:278688_278690delCGG	ENST00000382352.3	+	1	952_954	c.461_463delCGG	c.(460-465)ccggcg>ccg	p.A159del		NM_033089.6	NP_149080	Q9NUD5	ZCHC3_HUMAN	zinc finger, CCHC domain containing 3	159	Poly-Ala.						poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.A159delA(3)		endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8		all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			CAGGATGAgccggcggcggcggc	0.768														4335	0.865615	0.8343	0.9395	5008	,	,		8937	0.8065		0.9423	False		,,,				2504	0.8374					uc002wdf.2																			3	Deletion - In frame(3)		prostate(2)|large_intestine(1)		0						c.(460-465)CCGGCG>CCG		zinc finger, CCHC domain containing 3																																				SO:0001651	inframe_deletion	85364						nucleic acid binding|zinc ion binding	g.chr20:278688_278690delCGG	AL034548	CCDS42844.1	20p13-p12.2	2014-04-10	2004-07-14	2004-07-14	ENSG00000177764	ENSG00000247315		"""Zinc fingers, CCHC domain containing"""	16230	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 99"""	C20orf99			Standard	NM_033089		Approved	dJ1103G7.7	uc002wdf.3	Q9NUD5	OTTHUMG00000188280	ENST00000382352.3:c.461_463delCGG	20.37:g.278697_278699delCGG	ENSP00000371789:p.Ala159del					ZCCHC3_uc002wdg.2_Intron	p.A158del	NM_033089	NP_149080	Q9NUD5	ZCHC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.149)		1	485_487	+		all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231)	158			Poly-Ala.		Q3B7J3|Q6NT79	In_Frame_Del	DEL	ENST00000382352.3	37	c.461_463delCGG	CCDS42844.1																																																																																					0.768	ZCCHC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077447.1			4	8	4	8	---	---	---	---
