#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
NPHP4	261734	broad.mit.edu	37	1	5965822	5965822	+	Missense_Mutation	SNP	C	C	T	rs376353686		TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr1:5965822C>T	ENST00000378156.4	-	14	1898	c.1633G>A	c.(1633-1635)Ggt>Agt	p.G545S	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	545					actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		TGGGAGATACCGGCCTCCAAC	0.582													C|||	1	0.000199681	0.0	0.0	5008	,	,		18326	0.0		0.0	False		,,,				2504	0.001					uc001alq.1																			0				pancreas(1)	1						c.(1633-1635)GGT>AGT		nephroretinin		C	SER/GLY	1,3899		0,1,1949	31.0	34.0	33.0		1633	-3.0	0.1	1		33	0,8276		0,0,4138	no	missense	NPHP4	NM_015102.3	56	0,1,6087	TT,TC,CC		0.0,0.0256,0.0082	benign	545/1427	5965822	1,12175	1950	4138	6088	SO:0001583	missense	261734				actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity	g.chr1:5965822C>T	AB014573	CCDS44052.1	1p36	2010-03-26			ENSG00000131697	ENSG00000131697			19104	protein-coding gene	gene with protein product	"""nephroretinin"", ""nephrocystin-4"", ""POC10 centriolar protein homolog (Chlamydomonas)"""	607215				11920287, 12205563	Standard	XR_244787		Approved	SLSN4, KIAA0673, POC10	uc001alq.2	O75161	OTTHUMG00000000701	ENST00000378156.4:c.1633G>A	1.37:g.5965822C>T	ENSP00000367398:p.Gly545Ser					NPHP4_uc001als.1_RNA|NPHP4_uc009vlt.1_RNA|NPHP4_uc001alt.1_RNA|NPHP4_uc009vlu.1_5'Flank	p.G545S	NM_015102	NP_055917	O75161	NPHP4_HUMAN		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)	14	1899	-	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)	545					Q8IWC0	Missense_Mutation	SNP	ENST00000378156.4	37	c.1633G>A	CCDS44052.1	.	.	.	.	.	.	.	.	.	.	C	0.134	-1.109534	0.01813	2.56E-4	0.0	ENSG00000131697	ENST00000378156	D	0.86030	-2.06	5.42	-3.0	0.05480	.	0.829724	0.11139	N	0.595442	T	0.58133	0.2101	N	0.01874	-0.695	0.09310	N	1	B	0.22211	0.066	B	0.15870	0.014	T	0.51317	-0.8721	10	0.11182	T	0.66	.	8.6614	0.34095	0.0:0.4873:0.1212:0.3916	.	545	O75161	NPHP4_HUMAN	S	545	ENSP00000367398:G545S	ENSP00000367398:G545S	G	-	1	0	NPHP4	5888409	0.001000	0.12720	0.073000	0.20177	0.007000	0.05969	0.049000	0.14099	-0.901000	0.03891	-0.291000	0.09656	GGT		0.582	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001715.2		
PUM1	9698	broad.mit.edu	37	1	31479941	31479941	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr1:31479941C>G	ENST00000257075.5	-	4	534	c.441G>C	c.(439-441)ttG>ttC	p.L147F	PUM1_ENST00000424085.2_Intron|PUM1_ENST00000373741.4_Missense_Mutation_p.L183F|PUM1_ENST00000426105.2_Missense_Mutation_p.L147F|PUM1_ENST00000373742.2_Intron|PUM1_ENST00000423018.2_Intron|PUM1_ENST00000373747.3_Missense_Mutation_p.L147F|PUM1_ENST00000440538.2_Missense_Mutation_p.L147F	NM_014676.2	NP_055491.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	147					membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		TTTTACCTGGCAAGAGCTGCT	0.393																																						uc001bsi.1																			0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(439-441)TTG>TTC		pumilio 1 isoform 2							171.0	175.0	174.0					1																	31479941		2203	4300	6503	SO:0001583	missense	9698				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding	g.chr1:31479941C>G	AF315592	CCDS338.1, CCDS44099.1	1p35.2	2013-09-02	2013-09-02		ENSG00000134644	ENSG00000134644			14957	protein-coding gene	gene with protein product		607204	"""pumilio (Drosophila) homolog 1"", ""pumilio homolog 1 (Drosophila)"""				Standard	NM_001020658		Approved	PUMH1, KIAA0099	uc001bsh.1	Q14671	OTTHUMG00000003795	ENST00000257075.5:c.441G>C	1.37:g.31479941C>G	ENSP00000257075:p.Leu147Phe					PUM1_uc001bsg.1_5'Flank|PUM1_uc001bsh.1_Missense_Mutation_p.L147F|PUM1_uc001bsj.1_Missense_Mutation_p.L147F|PUM1_uc010oga.1_Intron|PUM1_uc001bsk.1_Missense_Mutation_p.L183F|PUM1_uc010ogb.1_Intron	p.L147F	NM_014676	NP_055491	Q14671	PUM1_HUMAN		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)	4	554	-		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)	147					A8K6W4|B4DG92|D3DPN3|E9PCJ0|Q53HH5|Q5VXY7|Q9HAN1	Missense_Mutation	SNP	ENST00000257075.5	37	c.441G>C	CCDS338.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.52|16.52	3.146110|3.146110	0.57044|0.57044	.|.	.|.	ENSG00000134644|ENSG00000134644	ENST00000525843|ENST00000257075;ENST00000373747;ENST00000426105;ENST00000440538;ENST00000373741;ENST00000543952	.|T;T;T;T;T	.|0.20881	.|2.04;2.3;2.3;2.22;2.28	5.26|5.26	5.26|5.26	0.73747|0.73747	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.45597|0.45597	0.1350|0.1350	L|L	0.58101|0.58101	1.795|1.795	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;0.997;0.999;1.0	.|D;D;D;D	.|0.85130	.|0.997;0.986;0.993;0.997	T|T	0.30504|0.30504	-0.9976|-0.9976	5|10	.|0.62326	.|D	.|0.03	-4.0377|-4.0377	19.0513|19.0513	0.93046|0.93046	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|183;147;147;147	.|Q5T1Z8;Q14671-2;Q14671;E9PCJ0	.|.;.;PUM1_HUMAN;.	P|F	164|147;147;147;147;183;147	.|ENSP00000257075:L147F;ENSP00000362852:L147F;ENSP00000391723:L147F;ENSP00000401777:L147F;ENSP00000362846:L183F	.|ENSP00000257075:L147F	A|L	-|-	1|3	0|2	PUM1|PUM1	31252528|31252528	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.777000|1.777000	0.38604|0.38604	2.736000|2.736000	0.93811|0.93811	0.557000|0.557000	0.71058|0.71058	GCC|TTG		0.393	PUM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000010671.1		
IQCC	55721	broad.mit.edu	37	1	32671870	32671870	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr1:32671870G>A	ENST00000291358.6	+	2	179	c.158G>A	c.(157-159)cGc>cAc	p.R53H	DCDC2B_ENST00000409358.1_5'Flank|RP4-622L5.7_ENST00000373604.4_RNA|IQCC_ENST00000537469.1_Missense_Mutation_p.R133H|RP4-622L5.7_ENST00000421616.1_RNA	NM_018134.2	NP_060604.2	Q4KMZ1	IQCC_HUMAN	IQ motif containing C	53										endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				ACCGAGGGCCGCATTCCCAGG	0.612																																						uc001bum.2																			0				ovary(4)	4						c.(157-159)CGC>CAC		IQ motif containing C isoform 2							64.0	68.0	66.0					1																	32671870		2203	4300	6503	SO:0001583	missense	55721							g.chr1:32671870G>A	AL049795	CCDS355.1, CCDS53293.1	1p36.11-p34.2	2008-02-05			ENSG00000160051	ENSG00000160051			25545	protein-coding gene	gene with protein product							Standard	NM_018134		Approved	FLJ10547	uc001bum.2	Q4KMZ1	OTTHUMG00000005739	ENST00000291358.6:c.158G>A	1.37:g.32671870G>A	ENSP00000291358:p.Arg53His					IQCC_uc009vua.2_Missense_Mutation_p.R133H|IQCC_uc010ogz.1_5'UTR|DCDC2B_uc001bun.2_5'Flank	p.R53H	NM_018134	NP_060604	Q4KMZ1	IQCC_HUMAN			2	205	+		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	53					F5H7T8|Q4KMS3|Q4KMZ5|Q53FL2|Q5TFJ8|Q9NVS3	Missense_Mutation	SNP	ENST00000291358.6	37	c.158G>A	CCDS355.1	.	.	.	.	.	.	.	.	.	.	G	14.15	2.450020	0.43531	.	.	ENSG00000160051	ENST00000537469;ENST00000291358	T;T	0.10382	2.88;2.88	5.13	5.13	0.70059	.	0.818608	0.11121	N	0.597423	T	0.15176	0.0366	N	0.22421	0.69	0.09310	N	1	D;D	0.71674	0.998;0.998	P;P	0.55615	0.78;0.669	T	0.25710	-1.0124	10	0.15066	T	0.55	0.3292	15.1855	0.72999	0.0:0.1415:0.8585:0.0	.	133;53	F5H7T8;Q4KMZ1	.;IQCC_HUMAN	H	133;53	ENSP00000442291:R133H;ENSP00000291358:R53H	ENSP00000291358:R53H	R	+	2	0	IQCC	32444457	0.005000	0.15991	0.987000	0.45799	0.061000	0.15899	1.507000	0.35758	2.843000	0.97960	0.655000	0.94253	CGC		0.612	IQCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015731.3	NM_018134	
POLR3C	10623	broad.mit.edu	37	1	145608488	145608488	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr1:145608488C>T	ENST00000334163.3	-	3	479	c.319G>A	c.(319-321)Gtt>Att	p.V107I	RNF115_ENST00000369291.5_5'Flank|POLR3C_ENST00000369294.1_Missense_Mutation_p.V107I|POLR3C_ENST00000471254.1_5'UTR	NM_006468.6	NP_006459.3	Q9BUI4	RPC3_HUMAN	polymerase (RNA) III (DNA directed) polypeptide C (62kD)	107					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Epithelial(2;7.55e-13)			AGCTCCTCAACAATCAGCTCT	0.493																																						uc001eoh.2																			0				ovary(1)	1						c.(319-321)GTT>ATT		polymerase (RNA) III (DNA directed) polypeptide							127.0	111.0	116.0					1																	145608488		2203	4300	6503	SO:0001583	missense	10623				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity	g.chr1:145608488C>T	AJ238234	CCDS72864.1	1q21	2013-01-21			ENSG00000186141	ENSG00000186141		"""RNA polymerase subunits"""	30076	protein-coding gene	gene with protein product						9171375, 12391170	Standard	NM_006468		Approved	RPC62, RPC3	uc001eoh.3	Q9BUI4	OTTHUMG00000013753	ENST00000334163.3:c.319G>A	1.37:g.145608488C>T	ENSP00000334564:p.Val107Ile					NBPF10_uc001emp.3_Intron|RNF115_uc001eoj.2_5'Flank|RNF115_uc001eok.2_5'Flank|RNF115_uc009wiy.2_5'Flank|POLR3C_uc001eog.2_Missense_Mutation_p.V120I|POLR3C_uc001eoi.2_RNA|POLR3C_uc009wix.2_Missense_Mutation_p.V107I	p.V107I	NM_006468	NP_006459	Q9BUI4	RPC3_HUMAN	Epithelial(2;7.55e-13)		3	480	-	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		107					O15317|Q9Y3R6	Missense_Mutation	SNP	ENST00000334163.3	37	c.319G>A	CCDS921.1	.	.	.	.	.	.	.	.	.	.	C	12.82	2.051748	0.36181	.	.	ENSG00000186141	ENST00000334163;ENST00000369294	T;T	0.46819	0.87;0.86	4.89	4.89	0.63831	.	0.124087	0.53938	D	0.000045	T	0.29126	0.0724	L	0.56769	1.78	0.44149	D	0.996948	B;B;B	0.23806	0.023;0.091;0.043	B;B;B	0.12837	0.008;0.007;0.008	T	0.09037	-1.0693	10	0.22109	T	0.4	-14.2434	15.5812	0.76445	0.0:1.0:0.0:0.0	.	107;107;107	E9PHH9;Q9BUI4;Q53F76	.;RPC3_HUMAN;.	I	107	ENSP00000334564:V107I;ENSP00000358300:V107I	ENSP00000334564:V107I	V	-	1	0	POLR3C	144319845	0.997000	0.39634	1.000000	0.80357	0.979000	0.70002	3.234000	0.51320	2.530000	0.85305	0.655000	0.94253	GTT		0.493	POLR3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038542.1	NM_006468	
MROH9	80133	broad.mit.edu	37	1	170961347	170961347	+	Silent	SNP	C	C	T			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr1:170961347C>T	ENST00000367758.3	+	12	1170	c.1071C>T	c.(1069-1071)agC>agT	p.S357S	MROH9_ENST00000367759.4_Silent_p.S357S	NM_025063.2	NP_079339.2	Q5TGP6	MROH9_HUMAN	maestro heat-like repeat family member 9	357																	CTCAGGCGAGCGTGGCCCCTC	0.493																																						uc001ghg.2																			0				pancreas(1)	1						c.(1069-1071)AGC>AGT		hypothetical protein LOC80133 isoform 2							95.0	96.0	96.0					1																	170961347		2028	4179	6207	SO:0001819	synonymous_variant	80133						binding	g.chr1:170961347C>T	AK027203	CCDS41436.1, CCDS53429.1	1q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000117501	ENSG00000117501		"""maestro heat-like repeat containing"""	26287	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 129"""	C1orf129			Standard	NM_025063		Approved	FLJ23550, ARMC11	uc010plz.2	Q5TGP6	OTTHUMG00000041456	ENST00000367758.3:c.1071C>T	1.37:g.170961347C>T						C1orf129_uc009wvy.2_Silent_p.S164S|C1orf129_uc010plz.1_Silent_p.S357S	p.S357S	NM_025063	NP_079339	Q5TGP6	CA129_HUMAN			12	1201	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		357					A0PJM0|A0PJM2|F5GWX6|Q9H5D7	Silent	SNP	ENST00000367758.3	37	c.1071C>T	CCDS41436.1																																																																																				0.493	MROH9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000099327.1	NM_025063	
RYR2	6262	broad.mit.edu	37	1	237604756	237604756	+	Silent	SNP	C	C	T	rs368844286	byFrequency	TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr1:237604756C>T	ENST00000366574.2	+	13	1460	c.1143C>T	c.(1141-1143)tcC>tcT	p.S381S	RYR2_ENST00000542537.1_Silent_p.S365S|RYR2_ENST00000360064.6_Silent_p.S379S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	381	MIR 5. {ECO:0000255|PROSITE- ProRule:PRU00131}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.S379S(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACGTGAAATCCGTGAGAATGG	0.348													C|||	3	0.000599042	0.0015	0.0	5008	,	,		17511	0.0		0.0	False		,,,				2504	0.001					uc001hyl.1																			1	Substitution - coding silent(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(1141-1143)TCC>TCT		cardiac muscle ryanodine receptor		C		8,3706		0,8,1849	143.0	132.0	136.0		1143	-10.7	0.0	1		136	0,8220		0,0,4110	no	coding-synonymous	RYR2	NM_001035.2		0,8,5959	TT,TC,CC		0.0,0.2154,0.067		381/4968	237604756	8,11926	1857	4110	5967	SO:0001819	synonymous_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237604756C>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.1143C>T	1.37:g.237604756C>T							p.S381S	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		13	1263	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	381			Cytoplasmic (By similarity).|MIR 5.		Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.1143C>T	CCDS55691.1																																																																																				0.348	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
PLD5	200150	broad.mit.edu	37	1	242383388	242383388	+	Missense_Mutation	SNP	C	C	T	rs140243407	byFrequency	TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr1:242383388C>T	ENST00000536534.2	-	5	878	c.637G>A	c.(637-639)Gct>Act	p.A213T	PLD5_ENST00000442594.2_Missense_Mutation_p.A121T|PLD5_ENST00000427495.1_Missense_Mutation_p.A151T			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	213						integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			TTGTTGTAAGCGGTCATGTTC	0.577																																						uc001hzn.1																			0				ovary(6)	6						c.(637-639)GCT>ACT		RecName: Full=Inactive phospholipase D5;          Short=Inactive PLD 5; AltName: Full=Inactive choline phosphatase 5; AltName: Full=Inactive phosphatidylcholine-hydrolyzing phospholipase D5; AltName: Full=PLDc;		C	THR/ALA,THR/ALA,THR/ALA	0,4406		0,0,2203	138.0	123.0	128.0		451,13,637	5.5	1.0	1	dbSNP_134	128	4,8596	3.7+/-12.6	0,4,4296	yes	missense,missense,missense	PLD5	NM_001195811.1,NM_001195812.1,NM_152666.2	58,58,58	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	benign,benign,benign	151/475,5/329,213/537	242383388	4,13002	2203	4300	6503	SO:0001583	missense	200150					integral to membrane	catalytic activity	g.chr1:242383388C>T	AK098092	CCDS1621.1, CCDS1621.2, CCDS55692.1	1q43	2008-02-05			ENSG00000180287	ENSG00000180287			26879	protein-coding gene	gene with protein product							Standard	NM_001195811		Approved	FLJ40773	uc001hzn.2	Q8N7P1	OTTHUMG00000039867	ENST00000536534.2:c.637G>A	1.37:g.242383388C>T	ENSP00000440896:p.Ala213Thr					PLD5_uc001hzl.3_Missense_Mutation_p.A151T|PLD5_uc001hzm.3_Missense_Mutation_p.A3T|PLD5_uc001hzo.1_Missense_Mutation_p.A121T	p.A213T			Q8N7P1	PLD5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0329)		5	764	-	Melanoma(84;0.242)		213					A1KXV0|B7Z324|Q494U9|Q8NB22	Missense_Mutation	SNP	ENST00000536534.2	37	c.637G>A	CCDS1621.2	.	.	.	.	.	.	.	.	.	.	C	23.5	4.419776	0.83559	0.0	4.65E-4	ENSG00000180287	ENST00000427495;ENST00000442594;ENST00000536534	T;T;T	0.44482	0.93;0.93;0.92	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.43500	0.1250	L	0.34521	1.04	0.54753	D	0.999987	D;D;D	0.67145	0.996;0.992;0.975	P;B;P	0.53861	0.736;0.41;0.56	T	0.10200	-1.0640	10	0.17832	T	0.49	-10.5662	14.9263	0.70881	0.0:1.0:0.0:0.0	.	121;213;151	Q8N7P1-2;Q8N7P1;Q8N7P1-4	.;PLD5_HUMAN;.	T	151;121;213	ENSP00000401285:A151T;ENSP00000414188:A121T;ENSP00000440896:A213T	ENSP00000401285:A151T	A	-	1	0	PLD5	240450011	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.510000	0.73729	2.591000	0.87537	0.655000	0.94253	GCT		0.577	PLD5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397213.2	NM_152666	
OR2B11	127623	broad.mit.edu	37	1	247614785	247614785	+	Missense_Mutation	SNP	G	G	A	rs149375684	byFrequency	TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr1:247614785G>A	ENST00000318749.6	-	1	523	c.500C>T	c.(499-501)aCg>aTg	p.T167M		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	167						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T167M(1)		endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CAATTGCACCGTCAGGACCAC	0.592													G|||	4	0.000798722	0.003	0.0	5008	,	,		20090	0.0		0.0	False		,,,				2504	0.0					uc010pyx.1																			1	Substitution - Missense(1)		endometrium(1)	upper_aerodigestive_tract(1)	1						c.(499-501)ACG>ATG		olfactory receptor, family 2, subfamily B,		G	MET/THR	19,4387	26.2+/-53.5	0,19,2184	57.0	52.0	54.0		500	4.1	0.5	1	dbSNP_134	54	2,8598	2.2+/-6.3	0,2,4298	yes	missense	OR2B11	NM_001004492.1	81	0,21,6482	AA,AG,GG		0.0233,0.4312,0.1615	probably-damaging	167/318	247614785	21,12985	2203	4300	6503	SO:0001583	missense	127623				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247614785G>A		CCDS31090.1	1q44	2012-08-09			ENSG00000177535	ENSG00000177535		"""GPCR / Class A : Olfactory receptors"""	31249	protein-coding gene	gene with protein product							Standard	NM_001004492		Approved		uc010pyx.2	Q5JQS5	OTTHUMG00000040572	ENST00000318749.6:c.500C>T	1.37:g.247614785G>A	ENSP00000325682:p.Thr167Met						p.T167M	NM_001004492	NP_001004492	Q5JQS5	OR2BB_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		1	500	-	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	167			Extracellular (Potential).		B2RP03	Missense_Mutation	SNP	ENST00000318749.6	37	c.500C>T	CCDS31090.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	9.439	1.087456	0.20390	0.004312	2.33E-4	ENSG00000177535	ENST00000318749	T	0.00265	8.39	4.96	4.05	0.47172	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000034	T	0.00144	0.0004	L	0.49126	1.545	0.09310	N	1	P	0.39862	0.692	B	0.26202	0.067	T	0.43718	-0.9374	10	0.52906	T	0.07	.	9.1779	0.37123	0.0982:0.0:0.9018:0.0	.	167	Q5JQS5	OR2BB_HUMAN	M	167	ENSP00000325682:T167M	ENSP00000325682:T167M	T	-	2	0	OR2B11	245681408	0.006000	0.16342	0.512000	0.27736	0.019000	0.09904	1.227000	0.32576	1.465000	0.48006	0.551000	0.68910	ACG		0.592	OR2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097620.1	NM_001004492	
ADAMTS14	140766	broad.mit.edu	37	10	72517795	72517795	+	Silent	SNP	C	C	T			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr10:72517795C>T	ENST00000373207.1	+	20	3015	c.3015C>T	c.(3013-3015)tgC>tgT	p.C1005C	ADAMTS14_ENST00000373208.1_Silent_p.C1008C	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	1005	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						TCGGGCATTGCGAGGGGGATA	0.667																																						uc001jrh.2																			0				ovary(5)|upper_aerodigestive_tract(1)	6						c.(3013-3015)TGC>TGT		ADAM metallopeptidase with thrombospondin type 1							46.0	43.0	44.0					10																	72517795		2203	4300	6503	SO:0001819	synonymous_variant	140766				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr10:72517795C>T	AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14899	protein-coding gene	gene with protein product		607506	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"""			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.3015C>T	10.37:g.72517795C>T						ADAMTS14_uc001jrg.2_Silent_p.C1008C	p.C1005C	NM_080722	NP_542453	Q8WXS8	ATS14_HUMAN			20	3015	+			1005			TSP type-1 4.		Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Silent	SNP	ENST00000373207.1	37	c.3015C>T	CCDS7306.1																																																																																				0.667	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048522.1	NM_080722	
EIF3A	8661	broad.mit.edu	37	10	120801816	120801816	+	Silent	SNP	C	C	G			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr10:120801816C>G	ENST00000369144.3	-	19	3343	c.3216G>C	c.(3214-3216)ggG>ggC	p.G1072G	EIF3A_ENST00000541549.1_Silent_p.G1038G	NM_003750.2	NP_003741.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 3, subunit A	0					mature ribosome assembly (GO:0042256)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal subunit export from nucleus (GO:0000054)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lamin filament (GO:0005638)|nucleus (GO:0005634)	ribosomal large subunit binding (GO:0043023)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		CATCATCCAACCCTCGCCTGG	0.637																																						uc001ldu.2																			0					0						c.(3214-3216)GGG>GGC		eukaryotic translation initiation factor 3,							163.0	156.0	158.0					10																	120801816		2203	4300	6503	SO:0001819	synonymous_variant	8661				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity	g.chr10:120801816C>G	U78311	CCDS7608.1	10q26.11	2007-08-03	2007-07-27	2007-07-27	ENSG00000107581	ENSG00000107581			3271	protein-coding gene	gene with protein product		602039	"""eukaryotic translation initiation factor 3, subunit 10 theta, 150/170kDa"""	EIF3, EIF3S10		9054404, 8590280	Standard	NM_003750		Approved	eIF3-theta, eIF3-p170, KIAA0139, eIF3a, TIF32	uc001ldu.3	Q14152	OTTHUMG00000019144	ENST00000369144.3:c.3216G>C	10.37:g.120801816C>G						EIF3A_uc010qsu.1_Silent_p.G1038G|EIF3A_uc009xzg.1_Silent_p.G111G	p.G1072G	NM_003750	NP_003741	Q14152	EIF3A_HUMAN		all cancers(201;0.0236)	19	3362	-		Lung NSC(174;0.094)|all_lung(145;0.123)	1072			15.|Asp-rich.|25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT].		B7ZBG9|Q6IBN8|Q96TD5	Silent	SNP	ENST00000369144.3	37	c.3216G>C	CCDS7608.1																																																																																				0.637	EIF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050634.1	NM_003750	
DHX32	55760	broad.mit.edu	37	10	127527726	127527726	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr10:127527726G>C	ENST00000284690.3	-	9	2215	c.1725C>G	c.(1723-1725)ttC>ttG	p.F575L	BCCIP_ENST00000299130.3_Intron|BCCIP_ENST00000429863.2_Intron|BCCIP_ENST00000368759.5_Intron|DHX32_ENST00000368721.1_Missense_Mutation_p.F199L|DHX32_ENST00000284688.6_Missense_Mutation_p.F494L	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	575						mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				AACAGTTGAGGAAGTAATCAC	0.453																																						uc001ljf.1																			0				breast(2)|ovary(1)|lung(1)	4						c.(1723-1725)TTC>TTG		DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 32							114.0	105.0	108.0					10																	127527726		2203	4300	6503	SO:0001583	missense	55760					mitochondrion|nucleus	ATP binding|helicase activity	g.chr10:127527726G>C		CCDS7652.1	10q26.11-q26.2	2008-01-07	2004-01-29	2004-01-30	ENSG00000089876	ENSG00000089876		"""DEAH-boxes"""	16717	protein-coding gene	gene with protein product		607960	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 32"""	DDX32			Standard	NM_018180		Approved	FLJ10889, FLJ10694, DHLP1	uc001ljf.1	Q7L7V1	OTTHUMG00000019238	ENST00000284690.3:c.1725C>G	10.37:g.127527726G>C	ENSP00000284690:p.Phe575Leu					BCCIP_uc001ljd.3_Intron|DHX32_uc001lje.1_Missense_Mutation_p.F199L|DHX32_uc001ljg.1_Missense_Mutation_p.F575L|BCCIP_uc010qui.1_Intron|BCCIP_uc001ljc.3_Intron|BCCIP_uc010quj.1_Intron	p.F575L	NM_018180	NP_060650	Q7L7V1	DHX32_HUMAN			9	2216	-		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)	575					A8MSV2|D3DRF9|Q49AG5|Q5T3L0|Q5T3L5|Q96NY1|Q9BUN0|Q9H769|Q9NSL5|Q9NV74|Q9NVJ7	Missense_Mutation	SNP	ENST00000284690.3	37	c.1725C>G	CCDS7652.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.236664	0.79800	.	.	ENSG00000089876	ENST00000368721;ENST00000284690;ENST00000284688	T;T;T	0.22945	1.93;3.85;3.52	5.02	4.12	0.48240	.	0.054353	0.85682	D	0.000000	T	0.11239	0.0274	N	0.08118	0	0.38795	D	0.955063	P	0.49090	0.919	B	0.34418	0.182	T	0.12243	-1.0555	10	0.87932	D	0	-39.0158	11.1081	0.48214	0.1545:0.0:0.8455:0.0	.	575	Q7L7V1	DHX32_HUMAN	L	199;575;494	ENSP00000357710:F199L;ENSP00000284690:F575L;ENSP00000284688:F494L	ENSP00000284688:F494L	F	-	3	2	DHX32	127517716	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	1.383000	0.34385	1.348000	0.45733	-0.123000	0.14984	TTC		0.453	DHX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050945.2	NM_018180	
ELF5	2001	broad.mit.edu	37	11	34515184	34515184	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr11:34515184C>T	ENST00000312319.2	-	3	456	c.227G>A	c.(226-228)tGc>tAc	p.C76Y	ELF5_ENST00000532417.1_Missense_Mutation_p.C66Y|ELF5_ENST00000257832.2_Missense_Mutation_p.C66Y|ELF5_ENST00000429939.2_Intron|ELF5_ENST00000528709.1_Intron	NM_001243081.1|NM_198381.1	NP_001230010.1|NP_938195.1	Q9UKW6	ELF5_HUMAN	E74-like factor 5 (ets domain transcription factor)	76	PNT. {ECO:0000255|PROSITE- ProRule:PRU00762}.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|ectoderm development (GO:0007398)|mammary gland epithelial cell differentiation (GO:0060644)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			large_intestine(4)|skin(1)	5		Acute lymphoblastic leukemia(5;0.0087)|all_hematologic(20;0.0384)				CTGGTCGCAGCAGAACTGGAG	0.527											OREG0020879	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Melanoma(61;202 1660 4348 21594)	uc001mvo.1																			0				skin(1)	1						c.(226-228)TGC>TAC		E74-like factor 5 ESE-2a							97.0	85.0	89.0					11																	34515184		2202	4298	6500	SO:0001583	missense	2001				cell proliferation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:34515184C>T	AF049703	CCDS7892.1, CCDS7893.1, CCDS58129.1, CCDS73273.1	11p13-p12	2008-05-14			ENSG00000135374	ENSG00000135374			3320	protein-coding gene	gene with protein product		605169				9840936	Standard	NM_001422		Approved		uc001mvp.2	Q9UKW6	OTTHUMG00000166451	ENST00000312319.2:c.227G>A	11.37:g.34515184C>T	ENSP00000311010:p.Cys76Tyr		OREG0020879	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	848	ELF5_uc001mvp.1_Missense_Mutation_p.C66Y|ELF5_uc009ykd.1_Intron|ELF5_uc001mvq.1_Missense_Mutation_p.C66Y	p.C76Y	NM_198381	NP_938195	Q9UKW6	ELF5_HUMAN			3	457	-		Acute lymphoblastic leukemia(5;0.0087)|all_hematologic(20;0.0384)	76			PNT.		A6XAE6|A8K452|O95175|Q8N2K9|Q96QY3|Q9UKW5	Missense_Mutation	SNP	ENST00000312319.2	37	c.227G>A	CCDS7892.1	.	.	.	.	.	.	.	.	.	.	C	17.71	3.456987	0.63401	.	.	ENSG00000135374	ENST00000257832;ENST00000312319;ENST00000532417	T;T;T	0.30182	1.54;1.54;1.54	4.66	4.66	0.58398	Sterile alpha motif/pointed domain (2);Pointed domain (3);	0.000000	0.64402	D	0.000001	T	0.48295	0.1492	L	0.40543	1.245	0.50632	D	0.999881	D;D	0.76494	0.999;0.997	D;D	0.85130	0.997;0.995	T	0.50701	-0.8797	10	0.62326	D	0.03	.	17.5733	0.87941	0.0:1.0:0.0:0.0	.	66;76	Q9UKW6-3;Q9UKW6	.;ELF5_HUMAN	Y	66;76;66	ENSP00000257832:C66Y;ENSP00000311010:C76Y;ENSP00000436386:C66Y	ENSP00000257832:C66Y	C	-	2	0	ELF5	34471760	1.000000	0.71417	1.000000	0.80357	0.719000	0.41307	4.306000	0.59117	2.146000	0.66826	0.561000	0.74099	TGC		0.527	ELF5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389845.1	NM_198381	
OR5D13	390142	broad.mit.edu	37	11	55541628	55541628	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr11:55541628A>T	ENST00000361760.1	+	1	715	c.715A>T	c.(715-717)Act>Tct	p.T239S		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	239						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				GCGCCAGAAAACTTTCTCCAC	0.418																																						uc010ril.1																			0				ovary(1)|pancreas(1)|skin(1)	3						c.(715-717)ACT>TCT		olfactory receptor, family 5, subfamily D,							135.0	119.0	124.0					11																	55541628		2200	4296	6496	SO:0001583	missense	390142				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55541628A>T	BK004394	CCDS31507.1	11q11	2012-08-09			ENSG00000198877	ENSG00000198877		"""GPCR / Class A : Olfactory receptors"""	15280	protein-coding gene	gene with protein product							Standard	NM_001001967		Approved		uc010ril.2	Q8NGL4	OTTHUMG00000166807	ENST00000361760.1:c.715A>T	11.37:g.55541628A>T	ENSP00000354800:p.Thr239Ser						p.T239S	NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN			1	715	+		all_epithelial(135;0.196)	239			Cytoplasmic (Potential).		Q6IF68|Q6IFC9	Missense_Mutation	SNP	ENST00000361760.1	37	c.715A>T	CCDS31507.1	.	.	.	.	.	.	.	.	.	.	A	10.05	1.244463	0.22796	.	.	ENSG00000198877	ENST00000361760	T	0.00099	8.73	3.82	-4.35	0.03656	GPCR, rhodopsin-like superfamily (1);	0.826337	0.09843	U	0.748557	T	0.00178	0.0005	L	0.33245	0.995	0.19945	N	0.999944	B	0.28760	0.221	B	0.39771	0.309	T	0.25813	-1.0121	10	0.87932	D	0	-3.2827	15.3066	0.73995	0.158:0.0:0.842:0.0	.	239	Q8NGL4	OR5DD_HUMAN	S	239	ENSP00000354800:T239S	ENSP00000354800:T239S	T	+	1	0	OR5D13	55298204	0.087000	0.21565	0.035000	0.18076	0.062000	0.15995	0.231000	0.17872	-0.920000	0.03799	-0.523000	0.04350	ACT		0.418	OR5D13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391511.1	NM_001001967	
OR5L2	26338	broad.mit.edu	37	11	55594866	55594866	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr11:55594866C>A	ENST00000378397.1	+	1	172	c.172C>A	c.(172-174)Ccc>Acc	p.P58T		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	58						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				GCTCCACACCCCCGTGTACTT	0.468										HNSCC(27;0.073)																												uc001nhy.1																			0				ovary(1)	1						c.(172-174)CCC>ACC		olfactory receptor, family 5, subfamily L,							254.0	233.0	240.0					11																	55594866		2200	4296	6496	SO:0001583	missense	26338				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55594866C>A	AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"""GPCR / Class A : Olfactory receptors"""	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.172C>A	11.37:g.55594866C>A	ENSP00000367650:p.Pro58Thr	HNSCC(27;0.073)					p.P58T	NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN			1	172	+		all_epithelial(135;0.208)	58			Helical; Name=2; (Potential).		Q6IF66|Q96RB2	Missense_Mutation	SNP	ENST00000378397.1	37	c.172C>A	CCDS31511.1	.	.	.	.	.	.	.	.	.	.	.	13.55	2.271855	0.40194	.	.	ENSG00000205030	ENST00000378397	T	0.02032	4.49	5.31	4.4	0.53042	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48767	D	0.000172	T	0.21509	0.0518	H	0.97707	4.06	0.43435	D	0.995608	D	0.89917	1.0	D	0.97110	1.0	T	0.31336	-0.9947	10	0.72032	D	0.01	-36.8392	13.1571	0.59524	0.0:0.9219:0.0:0.0781	.	58	Q8NGL0	OR5L2_HUMAN	T	58	ENSP00000367650:P58T	ENSP00000367650:P58T	P	+	1	0	OR5L2	55351442	1.000000	0.71417	0.940000	0.37924	0.055000	0.15305	5.604000	0.67626	1.421000	0.47157	-0.169000	0.13324	CCC		0.468	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391516.1	NM_001004739	
OR5W2	390148	broad.mit.edu	37	11	55681471	55681471	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr11:55681471C>G	ENST00000344514.1	-	1	587	c.588G>C	c.(586-588)gaG>gaC	p.E196D		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	196						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						ATAACACTAACTCATTGACCT	0.383																																					Melanoma(48;171 1190 15239 43886 49348)	uc010rir.1																			0				ovary(1)|skin(1)	2						c.(586-588)GAG>GAC		olfactory receptor, family 5, subfamily W,							63.0	64.0	64.0					11																	55681471		2201	4296	6497	SO:0001583	missense	390148				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55681471C>G	BK004398	CCDS31513.1	11q11	2012-08-09		2004-03-10	ENSG00000187612	ENSG00000187612		"""GPCR / Class A : Olfactory receptors"""	15299	protein-coding gene	gene with protein product				OR5W2P, OR5W3P			Standard	NM_001001960		Approved		uc010rir.2	Q8NH69	OTTHUMG00000166818	ENST00000344514.1:c.588G>C	11.37:g.55681471C>G	ENSP00000342448:p.Glu196Asp						p.E196D	NM_001001960	NP_001001960	Q8NH69	OR5W2_HUMAN			1	588	-			196			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000344514.1	37	c.588G>C	CCDS31513.1	.	.	.	.	.	.	.	.	.	.	C	14.01	2.408147	0.42715	.	.	ENSG00000187612	ENST00000344514	T	0.00249	8.44	5.0	-0.29	0.12847	GPCR, rhodopsin-like superfamily (1);	0.229124	0.22199	N	0.063266	T	0.00356	0.0011	M	0.75884	2.315	0.09310	N	1	D	0.63046	0.992	D	0.69479	0.964	T	0.51196	-0.8736	10	0.72032	D	0.01	.	3.2466	0.06799	0.2927:0.3675:0.0:0.3399	.	196	Q8NH69	OR5W2_HUMAN	D	196	ENSP00000342448:E196D	ENSP00000342448:E196D	E	-	3	2	OR5W2	55438047	0.000000	0.05858	0.023000	0.16930	0.641000	0.38312	-2.818000	0.00751	-0.095000	0.12351	0.542000	0.68232	GAG		0.383	OR5W2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391523.1	NM_001001960	
OR9G1	390174	broad.mit.edu	37	11	56468275	56468275	+	Nonsense_Mutation	SNP	A	A	T			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr11:56468275A>T	ENST00000312153.1	+	1	412	c.412A>T	c.(412-414)Aag>Tag	p.K138*		NM_001005213.1	NP_001005213.1	Q8NH87	OR9G1_HUMAN	olfactory receptor, family 9, subfamily G, member 1	138						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						CATGTCCATAAAGCTGTGTGC	0.493																																						uc010rjn.1																			0					0						c.(412-414)AAG>TAG		olfactory receptor, family 9, subfamily G,							197.0	184.0	188.0					11																	56468275		2201	4296	6497	SO:0001587	stop_gained	504191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56468275A>T	AB065500	CCDS31536.1	11q11	2012-08-09			ENSG00000174914	ENSG00000174914		"""GPCR / Class A : Olfactory receptors"""	15319	protein-coding gene	gene with protein product				OR9G5			Standard	NM_001005213		Approved			Q8NH87	OTTHUMG00000167112	ENST00000312153.1:c.412A>T	11.37:g.56468275A>T	ENSP00000309012:p.Lys138*						p.K138*	NM_001013358	NP_001013376	P0C7N8	OR9G9_HUMAN			1	412	+			138			Cytoplasmic (Potential).		Q6IEU9|Q8NGQ0	Nonsense_Mutation	SNP	ENST00000312153.1	37	c.412A>T	CCDS31536.1	.	.	.	.	.	.	.	.	.	.	A	9.829	1.187978	0.21954	.	.	ENSG00000174914	ENST00000312153	.	.	.	4.52	3.3	0.37823	.	0.615904	0.15318	N	0.268691	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	-7.8145	2.5975	0.04857	0.6122:0.1528:0.0874:0.1477	.	.	.	.	X	138	.	ENSP00000309012:K138X	K	+	1	0	OR9G1	56224851	0.000000	0.05858	0.006000	0.13384	0.315000	0.28087	-0.260000	0.08708	2.006000	0.58801	0.467000	0.42956	AAG		0.493	OR9G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393253.1	NM_001005213	
OR9G1	390174	broad.mit.edu	37	11	56468515	56468515	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr11:56468515C>A	ENST00000312153.1	+	1	652	c.652C>A	c.(652-654)Ctc>Atc	p.L218I		NM_001005213.1	NP_001005213.1	Q8NH87	OR9G1_HUMAN	olfactory receptor, family 9, subfamily G, member 1	218						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						GGCCTCCTACCTCTTTATCAT	0.532																																						uc010rjn.1																			0					0						c.(652-654)CTC>ATC		olfactory receptor, family 9, subfamily G,							174.0	175.0	175.0					11																	56468515		2201	4296	6497	SO:0001583	missense	504191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56468515C>A	AB065500	CCDS31536.1	11q11	2012-08-09			ENSG00000174914	ENSG00000174914		"""GPCR / Class A : Olfactory receptors"""	15319	protein-coding gene	gene with protein product				OR9G5			Standard	NM_001005213		Approved			Q8NH87	OTTHUMG00000167112	ENST00000312153.1:c.652C>A	11.37:g.56468515C>A	ENSP00000309012:p.Leu218Ile						p.L218I	NM_001013358	NP_001013376	P0C7N8	OR9G9_HUMAN			1	652	+			218			Helical; Name=5; (Potential).		Q6IEU9|Q8NGQ0	Missense_Mutation	SNP	ENST00000312153.1	37	c.652C>A	CCDS31536.1	.	.	.	.	.	.	.	.	.	.	C	2.039	-0.420591	0.04734	.	.	ENSG00000174914	ENST00000312153	T	0.00063	8.78	4.52	-6.11	0.02131	GPCR, rhodopsin-like superfamily (1);	0.778678	0.11286	N	0.579857	T	0.00039	0.0001	N	0.01618	-0.8	0.09310	N	1	B	0.18461	0.028	B	0.26310	0.068	T	0.12863	-1.0531	10	0.13108	T	0.6	-7.3113	0.5669	0.00689	0.357:0.1204:0.2462:0.2764	.	218	Q8NH87	OR9G1_HUMAN	I	218	ENSP00000309012:L218I	ENSP00000309012:L218I	L	+	1	0	OR9G1	56225091	0.000000	0.05858	0.105000	0.21289	0.084000	0.17831	-3.813000	0.00360	-1.121000	0.02949	0.573000	0.79308	CTC		0.532	OR9G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393253.1	NM_001005213	
HTR3B	9177	broad.mit.edu	37	11	113815368	113815368	+	Silent	SNP	C	C	G			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr11:113815368C>G	ENST00000260191.2	+	8	1238	c.981C>G	c.(979-981)ctC>ctG	p.L327L	HTR3B_ENST00000537778.1_Silent_p.L316L	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B, ionotropic	327					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ion channel activity (GO:0005216)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)	Ergoloid mesylate(DB01049)	TCAAATTCCTCCATGATGAGC	0.557																																						uc001pok.2																			0					0						c.(979-981)CTC>CTG		5-hydroxytryptamine (serotonin) receptor 3B							223.0	179.0	194.0					11																	113815368		2201	4296	6497	SO:0001819	synonymous_variant	9177				synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity	g.chr11:113815368C>G	AF080582	CCDS8364.1	11q23.1	2012-05-22	2012-02-03		ENSG00000149305	ENSG00000149305		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	5298	protein-coding gene	gene with protein product		604654	"""5-hydroxytryptamine (serotonin) receptor 3B"""			9950429, 10521471	Standard	NM_006028		Approved	5-HT3B	uc001pok.3	O95264	OTTHUMG00000168210	ENST00000260191.2:c.981C>G	11.37:g.113815368C>G						HTR3B_uc001pol.2_Silent_p.L316L	p.L327L	NM_006028	NP_006019	O95264	5HT3B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)	8	1048	+		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	327			Cytoplasmic (Potential).		B0YJ23|Q0VJC3	Silent	SNP	ENST00000260191.2	37	c.981C>G	CCDS8364.1																																																																																				0.557	HTR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398842.1	NM_006028	
MAP3K12	7786	broad.mit.edu	37	12	53875972	53875972	+	Missense_Mutation	SNP	C	C	T	rs149876591		TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr12:53875972C>T	ENST00000267079.2	-	14	2459	c.2234G>A	c.(2233-2235)cGc>cAc	p.R745H	MAP3K12_ENST00000547035.1_Missense_Mutation_p.R778H|MAP3K12_ENST00000547488.1_Missense_Mutation_p.R778H	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	745					histone phosphorylation (GO:0016572)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						TAGTGACTGGCGCATGTTCAG	0.512											OREG0021873	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001sdm.1																			0				lung(2)|ovary(1)|breast(1)|skin(1)	5						c.(2233-2235)CGC>CAC		mitogen-activated protein kinase kinase kinase		C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	196.0	175.0	182.0		2333,2234	4.4	1.0	12	dbSNP_134	182	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	MAP3K12	NM_001193511.1,NM_006301.3	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	778/893,745/860	53875972	1,13005	2203	4300	6503	SO:0001583	missense	7786				histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr12:53875972C>T	U07358	CCDS8860.1, CCDS55831.1	12q13.13	2013-10-30			ENSG00000139625	ENSG00000139625		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6851	protein-coding gene	gene with protein product	"""dual leucine zipper kinase DLK"""	600447		ZPK		8037767	Standard	NM_006301		Approved	MUK, DLK, ZPKP1, MEKK12	uc001sdn.2	Q12852	OTTHUMG00000169854	ENST00000267079.2:c.2234G>A	12.37:g.53875972C>T	ENSP00000267079:p.Arg745His		OREG0021873	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	996	MAP3K12_uc001sdn.1_Missense_Mutation_p.R778H	p.R745H	NM_006301	NP_006292	Q12852	M3K12_HUMAN			14	2332	-			745					B3KSS9|G3V1Y2|Q86VQ5|Q8WY25	Missense_Mutation	SNP	ENST00000267079.2	37	c.2234G>A	CCDS8860.1	.	.	.	.	.	.	.	.	.	.	C	12.63	1.995730	0.35226	0.0	1.16E-4	ENSG00000139625	ENST00000267079;ENST00000547488;ENST00000547035	T;T;T	0.56941	0.43;0.43;0.43	4.36	4.36	0.52297	.	0.000000	0.46442	D	0.000291	T	0.33381	0.0861	N	0.19112	0.55	0.35860	D	0.827425	D;P	0.52996	0.957;0.928	B;B	0.42245	0.381;0.211	T	0.22800	-1.0206	10	0.13853	T	0.58	.	10.3728	0.44064	0.0:0.9067:0.0:0.0932	.	778;745	G3V1Y2;Q12852	.;M3K12_HUMAN	H	745;778;778	ENSP00000267079:R745H;ENSP00000449038:R778H;ENSP00000448689:R778H	ENSP00000267079:R745H	R	-	2	0	MAP3K12	52162239	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.376000	0.59556	2.721000	0.93114	0.491000	0.48974	CGC		0.512	MAP3K12-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406267.1	NM_006301	
CUX2	23316	broad.mit.edu	37	12	111748125	111748125	+	Silent	SNP	C	C	T			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr12:111748125C>T	ENST00000261726.6	+	15	1693	c.1539C>T	c.(1537-1539)ggC>ggT	p.G513G		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	513	Pro-rich.				cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CCTTCTATGGCGCCAAGCCCC	0.741																																						uc001tsa.1																			0				ovary(3)|skin(2)|breast(1)	6						c.(1537-1539)GGC>GGT		cut-like 2							5.0	5.0	5.0					12																	111748125		1765	3900	5665	SO:0001819	synonymous_variant	23316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:111748125C>T	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"""Homeoboxes / CUT class"""	19347	protein-coding gene	gene with protein product		610648	"""cut-like 2 (Drosophila)"""	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.1539C>T	12.37:g.111748125C>T							p.G513G	NM_015267	NP_056082	O14529	CUX2_HUMAN			15	1692	+			513			Pro-rich.		A7E2Y4	Silent	SNP	ENST00000261726.6	37	c.1539C>T	CCDS41837.1																																																																																				0.741	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267	
TMEM132B	114795	broad.mit.edu	37	12	125834741	125834741	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr12:125834741C>G	ENST00000299308.3	+	2	804	c.796C>G	c.(796-798)Cca>Gca	p.P266A		NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	266						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GGTGGTCTACCCAACCCAAGA	0.577																																						uc001uhe.1																			0				skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1)	19						c.(796-798)CCA>GCA		transmembrane protein 132B							146.0	144.0	144.0					12																	125834741		1983	4151	6134	SO:0001583	missense	114795					integral to membrane		g.chr12:125834741C>G	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.796C>G	12.37:g.125834741C>G	ENSP00000299308:p.Pro266Ala						p.P266A	NM_052907	NP_443139	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	2	804	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		266			Extracellular (Potential).		A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	ENST00000299308.3	37	c.796C>G	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	C	14.31	2.496314	0.44352	.	.	ENSG00000139364	ENST00000299308	T	0.11063	2.81	5.34	4.44	0.53790	.	.	.	.	.	T	0.10852	0.0265	L	0.47190	1.495	0.80722	D	1	B	0.33171	0.4	B	0.33960	0.173	T	0.14090	-1.0485	9	0.16420	T	0.52	.	13.4114	0.60944	0.0:0.9249:0.0:0.0751	.	266	Q14DG7	T132B_HUMAN	A	266	ENSP00000299308:P266A	ENSP00000299308:P266A	P	+	1	0	TMEM132B	124400694	1.000000	0.71417	0.988000	0.46212	0.556000	0.35491	3.760000	0.55235	2.488000	0.83962	0.655000	0.94253	CCA		0.577	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907	
TBC1D4	9882	broad.mit.edu	37	13	75933904	75933904	+	Splice_Site	SNP	C	C	T			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr13:75933904C>T	ENST00000377636.3	-	3	1517		c.e3+1		TBC1D4_ENST00000431480.2_Splice_Site|TBC1D4_ENST00000425511.1_Splice_Site|TBC1D4_ENST00000377625.2_Splice_Site	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4						cellular response to insulin stimulus (GO:0032869)|membrane organization (GO:0061024)|negative regulation of vesicle fusion (GO:0031339)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		TTGATACATACCTGAGAACAA	0.313																																						uc001vjl.1																			0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.e3+1		TBC1 domain family, member 4							64.0	62.0	63.0					13																	75933904		1804	4061	5865	SO:0001630	splice_region_variant	9882					cytoplasm	Rab GTPase activator activity	g.chr13:75933904C>T	AB011175	CCDS41901.1, CCDS66563.1, CCDS66564.1	13q22.2	2013-07-09			ENSG00000136111	ENSG00000136111			19165	protein-coding gene	gene with protein product	"""Akt substrate of 160 kDa"""	612465				11829485, 11994271, 15304337	Standard	XM_005266603		Approved	KIAA0603, AS160, DKFZp779C0666	uc001vjl.1	O60343	OTTHUMG00000017088	ENST00000377636.3:c.1170+1G>A	13.37:g.75933904C>T						TBC1D4_uc010aer.2_Splice_Site_p.Q390_splice|TBC1D4_uc010aes.2_Splice_Site_p.Q390_splice	p.Q390_splice	NM_014832	NP_055647	O60343	TBCD4_HUMAN		GBM - Glioblastoma multiforme(99;0.0116)	3	1517	-		Prostate(6;0.014)|Breast(118;0.0982)						A7E2X8|B4DU25|B4E235|B6ETN8|B6ETN9|Q5W0B9|Q68D14	Splice_Site	SNP	ENST00000377636.3	37	c.1170_splice	CCDS41901.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.977324	0.92982	.	.	ENSG00000136111	ENST00000377636;ENST00000431480;ENST00000377625	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.418	0.99029	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TBC1D4	74831905	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.689000	0.84165	2.902000	0.99343	0.650000	0.86243	.		0.313	TBC1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045283.1	NM_014832	Intron
SERPINA1	5265	broad.mit.edu	37	14	94849558	94849558	+	Missense_Mutation	SNP	G	G	A	rs140814100		TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr14:94849558G>A	ENST00000448921.1	-	4	589	c.17C>T	c.(16-18)tCg>tTg	p.S6L	SERPINA1_ENST00000404814.4_Missense_Mutation_p.S6L|SERPINA1_ENST00000440909.1_Missense_Mutation_p.S6L|SERPINA1_ENST00000393087.4_Missense_Mutation_p.S6L|SERPINA1_ENST00000555289.1_5'Flank|SERPINA1_ENST00000449399.3_Missense_Mutation_p.S6L|SERPINA1_ENST00000355814.4_Missense_Mutation_p.S6L|SERPINA1_ENST00000437397.1_Missense_Mutation_p.S6L|SERPINA1_ENST00000402629.1_Missense_Mutation_p.S6L|SERPINA1_ENST00000393088.4_Missense_Mutation_p.S6L	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	6					acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of proteolysis (GO:0030162)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)	glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		GATGCCCCACGAGACAGAAGA	0.612																																						uc001ycx.3																			0				skin(1)	1	GRCh37	CM900181	SERPINA1	M	rs140814100	c.(16-18)TCG>TTG		serine proteinase inhibitor, clade A, member 1	Alpha-1-proteinase inhibitor(DB00058)	G	LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER	2,4404	4.2+/-10.8	0,2,2201	49.0	46.0	47.0		17,17,17,17,17,17,17,17,17,17,17	3.8	0.0	14	dbSNP_134	47	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense	SERPINA1	NM_000295.4,NM_001002235.2,NM_001002236.2,NM_001127700.1,NM_001127701.1,NM_001127702.1,NM_001127703.1,NM_001127704.1,NM_001127705.1,NM_001127706.1,NM_001127707.1	145,145,145,145,145,145,145,145,145,145,145	0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	6/419,6/419,6/419,6/419,6/419,6/419,6/419,6/419,6/419,6/419,6/419	94849558	3,13003	2203	4300	6503	SO:0001583	missense	5265	Alpha-1-Antitrypsin_Deficiency			acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity	g.chr14:94849558G>A	X01683	CCDS9925.1	14q32.1	2014-02-18	2005-08-18		ENSG00000197249	ENSG00000197249		"""Serine (or cysteine) peptidase inhibitors"""	8941	protein-coding gene	gene with protein product	"""protease inhibitor 1 (anti-elastase), alpha-1-antitrypsin"""	107400	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1"""	PI		24172014	Standard	NM_000295		Approved	AAT, A1A, PI1, alpha-1-antitrypsin, A1AT, alpha1AT	uc010aux.3	P01009	OTTHUMG00000150355	ENST00000448921.1:c.17C>T	14.37:g.94849558G>A	ENSP00000416066:p.Ser6Leu					SERPINA1_uc001ycw.3_RNA|SERPINA1_uc010auw.2_Missense_Mutation_p.S6L|SERPINA1_uc010aux.2_Missense_Mutation_p.S6L|SERPINA1_uc001ycy.3_Missense_Mutation_p.S6L|SERPINA1_uc010auy.2_Missense_Mutation_p.S6L|SERPINA1_uc001ycz.3_Missense_Mutation_p.S6L|SERPINA1_uc010auz.2_Missense_Mutation_p.S6L|SERPINA1_uc010ava.2_Missense_Mutation_p.S6L|SERPINA1_uc001ydb.3_Missense_Mutation_p.S6L|SERPINA1_uc010avb.2_Missense_Mutation_p.S6L|SERPINA1_uc001ydc.3_Missense_Mutation_p.S6L|SERPINA1_uc001yda.1_Missense_Mutation_p.S6L	p.S6L	NM_000295	NP_000286	P01009	A1AT_HUMAN		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	2	278	-		all_cancers(154;0.0649)|all_epithelial(191;0.223)	6					A6PX14|B2RDQ8|Q0PVP5|Q13672|Q53XB8|Q5U0M1|Q7M4R2|Q86U18|Q86U19|Q96BF9|Q96ES1|Q9P1P0|Q9UCE6|Q9UCM3	Missense_Mutation	SNP	ENST00000448921.1	37	c.17C>T	CCDS9925.1	.	.	.	.	.	.	.	.	.	.	G	10.05	1.245318	0.22796	4.54E-4	1.16E-4	ENSG00000197249	ENST00000440909;ENST00000448921;ENST00000437397;ENST00000355814;ENST00000393087;ENST00000393088;ENST00000404814;ENST00000449399;ENST00000402629;ENST00000556091;ENST00000557492;ENST00000556955;ENST00000553327;ENST00000557118	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.88124	-2.19;-2.19;-2.19;-2.19;-2.19;-2.19;-2.19;-2.19;-2.19;-1.61;-1.73;-2.11;-2.34;-2.02	5.64	3.79	0.43588	.	1.283680	0.05301	N	0.523030	D	0.89487	0.6729	L	0.55990	1.75	0.09310	N	1	D;P	0.58620	0.983;0.577	P;B	0.56216	0.794;0.133	T	0.75622	-0.3254	10	0.35671	T	0.21	.	7.7874	0.29099	0.1845:0.0:0.8155:0.0	.	6;6	P01009-2;P01009	.;A1AT_HUMAN	L	6	ENSP00000390299:S6L;ENSP00000416066:S6L;ENSP00000408474:S6L;ENSP00000348068:S6L;ENSP00000376802:S6L;ENSP00000376803:S6L;ENSP00000385960:S6L;ENSP00000416354:S6L;ENSP00000386094:S6L;ENSP00000452169:S6L;ENSP00000452452:S6L;ENSP00000451098:S6L;ENSP00000452480:S6L;ENSP00000451826:S6L	ENSP00000348068:S6L	S	-	2	0	SERPINA1	93919311	0.000000	0.05858	0.014000	0.15608	0.062000	0.15995	0.157000	0.16402	1.520000	0.48965	0.561000	0.74099	TCG		0.612	SERPINA1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317768.2	NM_001002235	
SLC12A1	6557	broad.mit.edu	37	15	48566793	48566793	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr15:48566793G>A	ENST00000558405.1	+	19	2442	c.2428G>A	c.(2428-2430)Gtg>Atg	p.V810M	SLC12A1_ENST00000396577.3_Missense_Mutation_p.V810M|SLC12A1_ENST00000380993.3_Missense_Mutation_p.V810M			Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	810					cell death (GO:0008219)|chemical homeostasis (GO:0048878)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|kidney development (GO:0001822)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:potassium:chloride symporter activity (GO:0008511)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Potassium Chloride(DB00761)|Quinethazone(DB01325)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	TGAGATTGGCGTGGTTATAGT	0.383																																						uc001zwn.3																			0				ovary(1)|central_nervous_system(1)	2						c.(2428-2430)GTG>ATG		sodium potassium chloride cotransporter 2	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)						128.0	110.0	116.0					15																	48566793		2198	4297	6495	SO:0001583	missense	6557				potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity	g.chr15:48566793G>A		CCDS10129.2, CCDS53940.1	15q15-q21	2013-07-18	2013-07-18		ENSG00000074803	ENSG00000074803		"""Solute carriers"""	10910	protein-coding gene	gene with protein product		600839				8640224	Standard	NM_000338		Approved	NKCC2	uc010bem.3	Q13621	OTTHUMG00000131495	ENST00000558405.1:c.2428G>A	15.37:g.48566793G>A	ENSP00000453409:p.Val810Met					SLC12A1_uc010uew.1_Missense_Mutation_p.V616M|SLC12A1_uc001zwq.3_Missense_Mutation_p.V581M|SLC12A1_uc001zwr.3_Missense_Mutation_p.V537M	p.V810M	NM_000338	NP_000329	Q13621	S12A1_HUMAN		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	20	2644	+		all_lung(180;0.00219)	810			Helical; (Potential).		A8JYA2|E9PDW4	Missense_Mutation	SNP	ENST00000558405.1	37	c.2428G>A	CCDS10129.2	.	.	.	.	.	.	.	.	.	.	G	18.50	3.637674	0.67130	.	.	ENSG00000074803	ENST00000380993;ENST00000396577	D;D	0.95756	-3.8;-3.8	5.9	5.9	0.94986	.	0.341251	0.29342	N	0.012439	D	0.95370	0.8497	M	0.69823	2.125	0.58432	D	0.999994	P;P	0.51537	0.946;0.691	B;B	0.43155	0.41;0.206	D	0.95699	0.8747	10	0.87932	D	0	.	19.8787	0.96886	0.0:0.0:1.0:0.0	.	810;810	E9PDW4;Q13621	.;S12A1_HUMAN	M	810	ENSP00000370381:V810M;ENSP00000379822:V810M	ENSP00000370381:V810M	V	+	1	0	SLC12A1	46354085	0.998000	0.40836	0.996000	0.52242	0.838000	0.47535	2.680000	0.46918	2.800000	0.96347	0.591000	0.81541	GTG		0.383	SLC12A1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417131.1		
ISLR2	57611	broad.mit.edu	37	15	74425374	74425374	+	Silent	SNP	C	C	T			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr15:74425374C>T	ENST00000361742.3	+	4	1048	c.279C>T	c.(277-279)ggC>ggT	p.G93G	ISLR2_ENST00000419208.1_Silent_p.G93G|ISLR2_ENST00000453268.2_Silent_p.G93G|ISLR2_ENST00000445793.1_Silent_p.G93G|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000565159.1_Silent_p.G93G|ISLR2_ENST00000565540.1_Silent_p.G93G|ISLR2_ENST00000435464.1_Silent_p.G93G	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	93					positive regulation of axon extension (GO:0045773)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						TGGAGCCAGGCGCACTGGCCG	0.637																																						uc002axd.2																			0					0						c.(277-279)GGC>GGT		immunoglobulin superfamily containing							54.0	48.0	50.0					15																	74425374		2198	4297	6495	SO:0001819	synonymous_variant	57611				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane		g.chr15:74425374C>T		CCDS10259.1	15q24.1	2013-01-11			ENSG00000167178	ENSG00000167178		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29286	protein-coding gene	gene with protein product		614179				10819331, 12975309	Standard	NM_001130136		Approved	KIAA1465	uc010bjf.3	Q6UXK2	OTTHUMG00000137624	ENST00000361742.3:c.279C>T	15.37:g.74425374C>T						ISLR2_uc002axe.2_Silent_p.G93G|ISLR2_uc010bjg.2_Silent_p.G93G|ISLR2_uc010bjf.2_Silent_p.G93G	p.G93G	NM_001130136	NP_001123608	Q6UXK2	ISLR2_HUMAN			4	1048	+			93			Extracellular (Potential).|LRR 2.		A8K352|Q9P263	Silent	SNP	ENST00000361742.3	37	c.279C>T	CCDS10259.1																																																																																				0.637	ISLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269046.1	NM_020851	
PCSK6	5046	broad.mit.edu	37	15	101968175	101968175	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr15:101968175G>T	ENST00000348070.1	-	7	741	c.742C>A	c.(742-744)Cgt>Agt	p.R248S	PCSK6_ENST00000344273.2_Missense_Mutation_p.R248S|PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000331826.7_Missense_Mutation_p.R83S|PCSK6_ENST00000358417.3_Missense_Mutation_p.R248S|PCSK6_ENST00000398181.2_Missense_Mutation_p.R248S	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	249	Peptidase S8.				determination of left/right symmetry (GO:0007368)|glycoprotein metabolic process (GO:0009100)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|regulation of BMP signaling pathway (GO:0030510)|secretion by cell (GO:0032940)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|nerve growth factor binding (GO:0048406)|serine-type endopeptidase activity (GO:0004252)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CCCGCACAACGAGTGCCGTGT	0.512																																						uc002bwy.2																			0				pancreas(2)	2						c.(745-747)CGT>AGT		paired basic amino acid cleaving system 4							27.0	30.0	29.0					15																	101968175		2061	4189	6250	SO:0001583	missense	5046				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity	g.chr15:101968175G>T		CCDS73789.1, CCDS73790.1, CCDS73791.1, CCDS73792.1, CCDS73793.1	15q26	2008-07-18	2004-06-14	2004-06-16		ENSG00000140479			8569	protein-coding gene	gene with protein product	"""subtilisin-like protease"", ""subtilisin-like proprotein convertase 4"", ""subtilisin/kexin-like protease PACE4"""	167405	"""paired basic amino acid cleaving system 4"""	PACE4		1741956	Standard	NM_002570		Approved	SPC4	uc002bwy.3	P29122		ENST00000348070.1:c.742C>A	15.37:g.101968175G>T	ENSP00000305056:p.Arg248Ser					PCSK6_uc010bpd.2_Missense_Mutation_p.R119S|PCSK6_uc010bpe.2_Missense_Mutation_p.R249S|PCSK6_uc002bxa.2_Missense_Mutation_p.R249S|PCSK6_uc002bxb.2_Missense_Mutation_p.R249S|PCSK6_uc002bxc.1_Missense_Mutation_p.R249S|PCSK6_uc002bxd.1_Missense_Mutation_p.R249S|PCSK6_uc002bxe.2_Missense_Mutation_p.R249S|PCSK6_uc002bxg.1_Missense_Mutation_p.R249S	p.R249S	NM_002570	NP_002561	P29122	PCSK6_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		7	1059	-	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		249			Catalytic.		Q15099|Q15100|Q9UEG7|Q9UEJ1|Q9UEJ2|Q9UEJ7|Q9UEJ8|Q9UEJ9|Q9Y4G9|Q9Y4H0|Q9Y4H1	Missense_Mutation	SNP	ENST00000348070.1	37	c.745C>A		.	.	.	.	.	.	.	.	.	.	G	19.52	3.842633	0.71488	.	.	ENSG00000140479	ENST00000348070;ENST00000358417;ENST00000398185;ENST00000344273;ENST00000398181;ENST00000331826	D;D;D;D;D	0.87729	-2.29;-2.29;-2.29;-2.29;-2.29	5.0	5.0	0.66597	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.000000	0.85682	D	0.000000	D	0.92711	0.7683	M	0.67569	2.06	0.52501	D	0.999959	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;0.999;0.998;0.999;0.999;1.0;1.0;1.0	D	0.93578	0.6910	10	0.87932	D	0	-30.0309	17.3048	0.87192	0.0:0.0:1.0:0.0	.	249;154;248;249;248;248;249;249;248	P29122;Q59H04;E7EUC8;P29122-4;E7EWH5;E7EQ62;P29122-8;P29122-7;E7EM82	PCSK6_HUMAN;.;.;.;.;.;.;.;.	S	248;248;153;248;248;83	ENSP00000305056:R248S;ENSP00000351193:R248S;ENSP00000344410:R248S;ENSP00000381243:R248S;ENSP00000332052:R83S	ENSP00000332052:R83S	R	-	1	0	PCSK6	99785698	1.000000	0.71417	0.622000	0.29159	0.915000	0.54546	6.875000	0.75551	2.298000	0.77334	0.655000	0.94253	CGT		0.512	PCSK6-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_002570	
UBN1	29855	broad.mit.edu	37	16	4909917	4909917	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr16:4909917G>A	ENST00000396658.4	+	5	1322	c.619G>A	c.(619-621)Gac>Aac	p.D207N	UBN1_ENST00000545171.1_Missense_Mutation_p.D207N|UBN1_ENST00000262376.6_Missense_Mutation_p.D207N|UBN1_ENST00000590769.1_Missense_Mutation_p.D207N	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	207	Lys-rich.				chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of phosphatase activity (GO:0010923)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						GAAAAAAGATGACACTTATGA	0.443																																						uc002cyb.2																			0				skin(2)	2						c.(619-621)GAC>AAC		ubinuclein 1							105.0	95.0	98.0					16																	4909917		2197	4300	6497	SO:0001583	missense	29855				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:4909917G>A	AF108460	CCDS10525.1, CCDS73822.1	16p13.3	2010-11-09			ENSG00000118900	ENSG00000118900			12506	protein-coding gene	gene with protein product		609771				10725330	Standard	XM_005255277		Approved		uc002cyb.3	Q9NPG3	OTTHUMG00000129531	ENST00000396658.4:c.619G>A	16.37:g.4909917G>A	ENSP00000379894:p.Asp207Asn					UBN1_uc010uxw.1_Missense_Mutation_p.D207N|UBN1_uc002cyc.2_Missense_Mutation_p.D207N	p.D207N	NM_001079514	NP_001072982	Q9NPG3	UBN1_HUMAN			6	958	+			207			Lys-rich.		B7Z6D3|D3DUE8|Q13079|Q9P1P7	Missense_Mutation	SNP	ENST00000396658.4	37	c.619G>A	CCDS10525.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.293949	0.81025	.	.	ENSG00000118900	ENST00000262376;ENST00000545171;ENST00000396658	T;T;T	0.47869	1.43;0.83;1.43	5.49	5.49	0.81192	.	0.113605	0.56097	D	0.000022	T	0.64103	0.2568	L	0.55481	1.735	0.54753	D	0.999984	D;D	0.71674	0.998;0.996	D;P	0.68353	0.957;0.906	T	0.59478	-0.7447	10	0.37606	T	0.19	-28.3377	18.2875	0.90119	0.0:0.0:1.0:0.0	.	207;207	Q9NPG3-2;Q9NPG3	.;UBN1_HUMAN	N	207	ENSP00000262376:D207N;ENSP00000442379:D207N;ENSP00000379894:D207N	ENSP00000262376:D207N	D	+	1	0	UBN1	4849918	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.812000	0.69194	2.735000	0.93741	0.561000	0.74099	GAC		0.443	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251719.1	NM_016936	
SLC12A3	6559	broad.mit.edu	37	16	56928513	56928513	+	Silent	SNP	C	C	T			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr16:56928513C>T	ENST00000563236.1	+	22	2617	c.2592C>T	c.(2590-2592)ttC>ttT	p.F864F	SLC12A3_ENST00000566786.1_Silent_p.F872F|SLC12A3_ENST00000438926.2_Silent_p.F873F|SLC12A3_ENST00000262502.5_Silent_p.F863F			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	864					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:chloride symporter activity (GO:0015378)|transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	TCCGTGTGTTCGTAGGCGGCC	0.582																																						uc010ccm.2																			0				ovary(2)|breast(1)	3						c.(2590-2592)TTC>TTT		solute carrier family 12, member 3 isoform 3	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)						148.0	111.0	123.0					16																	56928513		2198	4300	6498	SO:0001819	synonymous_variant	6559				sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity	g.chr16:56928513C>T		CCDS10770.1, CCDS45491.1, CCDS58464.1	16q13	2013-07-18	2013-07-18		ENSG00000070915	ENSG00000070915		"""Solute carriers"""	10912	protein-coding gene	gene with protein product		600968				8812482	Standard	NM_000339		Approved	NCCT	uc002ekd.4	P55017	OTTHUMG00000133284	ENST00000563236.1:c.2592C>T	16.37:g.56928513C>T						SLC12A3_uc002ekd.3_Silent_p.F873F|SLC12A3_uc010ccn.2_Silent_p.F872F	p.F864F	NM_001126108	NP_001119580	P55017	S12A3_HUMAN			22	2621	+			864			Cytoplasmic (Potential).		A8MSJ2|C9JNN9	Silent	SNP	ENST00000563236.1	37	c.2592C>T	CCDS58464.1																																																																																				0.582	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432337.1		
CPNE7	27132	broad.mit.edu	37	16	89656340	89656340	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr16:89656340G>A	ENST00000268720.5	+	13	1452	c.1322G>A	c.(1321-1323)cGg>cAg	p.R441Q	CPNE7_ENST00000319518.8_Missense_Mutation_p.R366Q	NM_014427.4	NP_055242.1	Q9UBL6	CPNE7_HUMAN	copine VII	441	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				lipid metabolic process (GO:0006629)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)	transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)	17		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		TTTGGAGCCCGGATCCCTCCC	0.622																																						uc002fnp.2																			0					0						c.(1321-1323)CGG>CAG		copine 7 isoform b							82.0	70.0	74.0					16																	89656340		2198	4298	6496	SO:0001583	missense	27132				lipid metabolic process		transporter activity	g.chr16:89656340G>A	AJ133798	CCDS10980.1, CCDS10981.1	16q24.3	2008-07-03			ENSG00000178773	ENSG00000178773			2320	protein-coding gene	gene with protein product		605689					Standard	NM_014427		Approved		uc002fnq.3	Q9UBL6	OTTHUMG00000138051	ENST00000268720.5:c.1322G>A	16.37:g.89656340G>A	ENSP00000268720:p.Arg441Gln					CPNE7_uc002fnq.2_Missense_Mutation_p.R366Q	p.R441Q	NM_014427	NP_055242	Q9UBL6	CPNE7_HUMAN		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)	13	1452	+		all_hematologic(23;0.0748)	441			VWFA.			Missense_Mutation	SNP	ENST00000268720.5	37	c.1322G>A	CCDS10980.1	.	.	.	.	.	.	.	.	.	.	G	7.052	0.564716	0.13498	.	.	ENSG00000178773	ENST00000319518;ENST00000268720;ENST00000529800	T;T;T	0.22134	1.97;1.97;1.97	4.02	4.02	0.46733	von Willebrand factor, type A (2);Copine (1);	0.000000	0.85682	D	0.000000	T	0.08447	0.0210	N	0.05012	-0.13	0.43508	D	0.995763	P;B	0.40107	0.703;0.332	B;B	0.34093	0.175;0.091	T	0.15492	-1.0435	10	0.02654	T	1	-8.7565	16.1035	0.81203	0.0:0.0:1.0:0.0	.	366;441	Q9UBL6-2;Q9UBL6	.;CPNE7_HUMAN	Q	366;441;86	ENSP00000317374:R366Q;ENSP00000268720:R441Q;ENSP00000435876:R86Q	ENSP00000268720:R441Q	R	+	2	0	CPNE7	88183841	1.000000	0.71417	1.000000	0.80357	0.652000	0.38707	3.293000	0.51779	1.937000	0.56155	0.462000	0.41574	CGG		0.622	CPNE7-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269929.2		
TRPV2	51393	broad.mit.edu	37	17	16321183	16321183	+	Splice_Site	SNP	G	G	A			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr17:16321183G>A	ENST00000338560.7	+	2	599		c.e2+1		RP11-138I1.2_ENST00000580996.1_RNA|TRPV2_ENST00000577397.1_Splice_Site	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2						calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|positive regulation of axon extension (GO:0045773)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|response to temperature stimulus (GO:0009266)|sensory perception (GO:0007600)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|growth cone membrane (GO:0032584)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|ion channel activity (GO:0005216)|ion transmembrane transporter activity (GO:0015075)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CAGGTGCCAGGTGAGACAGCA	0.617																																						uc002gpy.2																			0				ovary(1)	1						c.e2+1		transient receptor potential cation channel,							24.0	24.0	24.0					17																	16321183		2203	4300	6503	SO:0001630	splice_region_variant	51393				sensory perception	integral to plasma membrane|melanosome	calcium channel activity	g.chr17:16321183G>A	AF129112	CCDS32576.1	17p11.2	2013-01-10			ENSG00000187688	ENSG00000187688		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18082	protein-coding gene	gene with protein product		606676				10201375, 16382100	Standard	NM_016113		Approved	VRL, VRL-1, VRL1	uc002gpy.3	Q9Y5S1	OTTHUMG00000058989	ENST00000338560.7:c.200+1G>A	17.37:g.16321183G>A						TRPV2_uc002gpz.2_Splice_Site	p.S67_splice	NM_016113	NP_057197	Q9Y5S1	TRPV2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	2	567	+								A6NML2|A8K0Z0|Q9Y670	Splice_Site	SNP	ENST00000338560.7	37	c.200_splice	CCDS32576.1	.	.	.	.	.	.	.	.	.	.	G	15.33	2.801114	0.50315	.	.	ENSG00000187688	ENST00000338560	.	.	.	5.39	4.42	0.53409	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.2087	0.48784	0.0863:0.0:0.9137:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TRPV2	16261908	1.000000	0.71417	0.811000	0.32455	0.247000	0.25773	3.506000	0.53364	1.389000	0.46526	0.455000	0.32223	.		0.617	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130464.2	NM_016113	Intron
EFCAB5	374786	broad.mit.edu	37	17	28434861	28434861	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr17:28434861G>A	ENST00000394835.3	+	23	4523	c.4331G>A	c.(4330-4332)cGa>cAa	p.R1444Q	EFCAB5_ENST00000320856.5_Missense_Mutation_p.R1320Q|RP11-1148O4.2_ENST00000582938.1_RNA|EFCAB5_ENST00000394832.2_Missense_Mutation_p.R916Q	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	1444							calcium ion binding (GO:0005509)			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GATCATTCCCGAACTGAAGTA	0.308																																						uc002het.2																			0				ovary(1)|skin(1)	2						c.(4330-4332)CGA>CAA		EF-hand calcium binding domain 5 isoform a							81.0	71.0	74.0					17																	28434861		1840	4092	5932	SO:0001583	missense	374786						calcium ion binding	g.chr17:28434861G>A	AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"""EF-hand domain containing"""	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.4331G>A	17.37:g.28434861G>A	ENSP00000378312:p.Arg1444Gln					EFCAB5_uc010cse.2_Missense_Mutation_p.R1199Q|EFCAB5_uc010csf.2_Missense_Mutation_p.R795Q	p.R1444Q	NM_198529	NP_940931	A4FU69	EFCB5_HUMAN			23	4523	+			1444					B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Missense_Mutation	SNP	ENST00000394835.3	37	c.4331G>A	CCDS11254.2	.	.	.	.	.	.	.	.	.	.	G	8.812	0.935553	0.18206	.	.	ENSG00000176927	ENST00000394835;ENST00000320856;ENST00000394832;ENST00000419434	T;T;T;T	0.34859	2.64;2.73;1.34;2.73	4.51	3.54	0.40534	.	0.111083	0.36444	N	0.002595	T	0.32763	0.0840	L	0.46741	1.465	0.20821	N	0.999842	D;P;P	0.61080	0.989;0.841;0.933	P;B;B	0.47528	0.549;0.272;0.438	T	0.10941	-1.0608	10	0.24483	T	0.36	-14.804	8.2855	0.31926	0.1071:0.0:0.8929:0.0	.	916;1320;1444	B5MEA3;E7EVS9;A4FU69	.;.;EFCB5_HUMAN	Q	1444;1320;916;1126	ENSP00000378312:R1444Q;ENSP00000322003:R1320Q;ENSP00000378309:R916Q;ENSP00000417009:R1126Q	ENSP00000322003:R1320Q	R	+	2	0	EFCAB5	25458987	0.991000	0.36638	0.134000	0.22075	0.004000	0.04260	2.666000	0.46799	1.116000	0.41820	-0.136000	0.14681	CGA		0.308	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4	NM_198529	
ERBB2	2064	broad.mit.edu	37	17	37884124	37884124	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr17:37884124C>A	ENST00000269571.5	+	27	3754	c.3595C>A	c.(3595-3597)Ccc>Acc	p.P1199T	ERBB2_ENST00000584450.1_3'UTR|ERBB2_ENST00000541774.1_Missense_Mutation_p.P1184T|ERBB2_ENST00000445658.2_Missense_Mutation_p.P923T|MIR4728_ENST00000580969.1_RNA|ERBB2_ENST00000540147.1_Missense_Mutation_p.P1169T|ERBB2_ENST00000584601.1_Missense_Mutation_p.P1169T|MIEN1_ENST00000474210.1_5'Flank|ERBB2_ENST00000406381.2_Missense_Mutation_p.P1169T			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	1199					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	GTACTTGACACCCCAGGGAGG	0.622		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)																												uc002hso.2		1		Dom	yes		17	17q21.1	2064	A|Mis|O	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""			E			breast|ovarian|other tumour types|NSCLC|gastric		0				lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1)	143						c.(3595-3597)CCC>ACC		erbB-2 isoform a	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)						53.0	62.0	59.0					17																	37884124		2203	4300	6503	SO:0001583	missense	2064				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr17:37884124C>A	X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.3595C>A	17.37:g.37884124C>A	ENSP00000269571:p.Pro1199Thr	TCGA GBM(5;<1E-08)				ERBB2_uc002hsm.2_Missense_Mutation_p.P1169T|ERBB2_uc010cwa.2_Missense_Mutation_p.P1184T|ERBB2_uc002hsp.2_Missense_Mutation_p.P1002T|ERBB2_uc010cwb.2_3'UTR|ERBB2_uc010wek.1_Missense_Mutation_p.P923T	p.P1199T	NM_004448	NP_004439	P04626	ERBB2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	27	3833	+	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	1199			Cytoplasmic (Potential).		B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	ENST00000269571.5	37	c.3595C>A	CCDS32642.1	.	.	.	.	.	.	.	.	.	.	C	13.73	2.324733	0.41197	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147	D;D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59;-1.59	5.2	5.2	0.72013	.	.	.	.	.	D	0.82342	0.5016	N	0.16166	0.38	0.80722	D	1	D;D;B	0.89917	1.0;1.0;0.434	D;D;B	0.91635	0.997;0.999;0.145	T	0.76702	-0.2862	9	0.07030	T	0.85	.	18.342	0.90308	0.0:1.0:0.0:0.0	.	923;1184;1199	B4DTR1;P04626-4;P04626	.;.;ERBB2_HUMAN	T	1169;1184;923;1199;1169	ENSP00000385185:P1169T;ENSP00000446466:P1184T;ENSP00000404047:P923T;ENSP00000269571:P1199T;ENSP00000443562:P1169T	ENSP00000269571:P1199T	P	+	1	0	ERBB2	35137650	0.983000	0.35010	0.996000	0.52242	0.382000	0.30200	2.447000	0.44917	2.404000	0.81709	0.563000	0.77884	CCC		0.622	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2		
AOC3	8639	broad.mit.edu	37	17	41003669	41003669	+	Silent	SNP	G	G	A			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr17:41003669G>A	ENST00000308423.2	+	1	469	c.309G>A	c.(307-309)ctG>ctA	p.L103L	AOC3_ENST00000591562.1_5'Flank	NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	103					amine metabolic process (GO:0009308)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|response to antibiotic (GO:0046677)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	AGTTGCAGCTGCCTCCCAAGG	0.672																																					NSCLC(3;192 220 10664 11501 16477)	uc002ibv.2																			0				central_nervous_system(2)|ovary(1)|skin(1)	4						c.(307-309)CTG>CTA		amine oxidase, copper containing 3 precursor	Hydralazine(DB01275)|Phenelzine(DB00780)						22.0	28.0	26.0					17																	41003669		2146	4202	6348	SO:0001819	synonymous_variant	8639				amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity	g.chr17:41003669G>A	AF067406	CCDS11444.1, CCDS62198.1, CCDS74071.1	17q21	2013-05-08	2013-05-08			ENSG00000131471	1.4.3.21		550	protein-coding gene	gene with protein product	"""vascular adhesion protein 1"""	603735				9653080, 8972912	Standard	NM_003734		Approved	VAP1, HPAO, VAP-1	uc002ibv.4	Q16853		ENST00000308423.2:c.309G>A	17.37:g.41003669G>A							p.L103L	NM_003734	NP_003725	Q16853	AOC3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.156)	1	469	+		Breast(137;0.000143)	103			Extracellular (Potential).		B2RCI5|K7ESB3|L0L8N9|Q45F94	Silent	SNP	ENST00000308423.2	37	c.309G>A	CCDS11444.1																																																																																				0.672	AOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452444.1	NM_003734	
KIF2B	84643	broad.mit.edu	37	17	51901522	51901522	+	Frame_Shift_Del	DEL	C	C	-			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr17:51901522delC	ENST00000268919.4	+	1	1284	c.1128delC	c.(1126-1128)gtcfs	p.V376fs		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	376	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AGCTGCAAGTCCTTGAGGATG	0.468																																						uc002iua.2																			0				ovary(5)|skin(3)	8						c.(1126-1128)GTCfs		kinesin family member 2B							125.0	111.0	116.0					17																	51901522		2203	4300	6503	SO:0001589	frameshift_variant	84643				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	g.chr17:51901522delC	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.1128delC	17.37:g.51901522delC	ENSP00000268919:p.Val376fs					uc010wna.1_RNA	p.V376fs	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN			1	1284	+			376			Kinesin-motor.		Q96MA2|Q9BXG6	Frame_Shift_Del	DEL	ENST00000268919.4	37	c.1128delC	CCDS32685.1																																																																																				0.468	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559	
GALNT1	2589	broad.mit.edu	37	18	33257555	33257555	+	Splice_Site	SNP	G	G	A			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr18:33257555G>A	ENST00000269195.5	+	3	418	c.315G>A	c.(313-315)ggG>ggA	p.G105G	GALNT1_ENST00000537549.1_Splice_Site_p.G45G	NM_020474.3	NP_065207.2	Q10472	GALT1_HUMAN	polypeptide N-acetylgalactosaminyltransferase 1	105					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						TTGTCTCTAGGTGTAAAACAA	0.383																																						uc010dmu.2																			0				ovary(2)	2						c.(313-315)GGG>GGA		polypeptide N-acetylgalactosaminyltransferase 1							124.0	112.0	116.0					18																	33257555		2203	4300	6503	SO:0001630	splice_region_variant	2589				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr18:33257555G>A		CCDS11915.1	18q12.1	2014-03-13	2014-03-13		ENSG00000141429	ENSG00000141429	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4123	protein-coding gene	gene with protein product	"""protein-UDP acetylgalactosaminyltransferase 1"", ""polypeptide GalNAc transferase 1"""	602273	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1)"""			7592619, 12199709	Standard	NM_020474		Approved	GalNAc-T1	uc002kzb.3	Q10472	OTTHUMG00000132567	ENST00000269195.5:c.315-1G>A	18.37:g.33257555G>A						GALNT1_uc002kyz.3_Silent_p.G45G|GALNT1_uc002kzb.2_Silent_p.G105G	p.G105G	NM_020474	NP_065207	Q10472	GALT1_HUMAN			4	368	+			105			Lumenal (Potential).		Q86TJ7|Q9UM86	Silent	SNP	ENST00000269195.5	37	c.315G>A	CCDS11915.1																																																																																				0.383	GALNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255771.2	NM_020474	Silent
PARD6G	84552	broad.mit.edu	37	18	77918374	77918374	+	Silent	SNP	C	C	T			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr18:77918374C>T	ENST00000353265.3	-	3	608	c.411G>A	c.(409-411)ccG>ccA	p.P137P	AC139100.2_ENST00000589574.1_Intron|AC139100.2_ENST00000585422.1_Intron|AC139100.2_ENST00000586421.1_Intron|AC139100.2_ENST00000587254.1_Intron	NM_032510.3	NP_115899.1	Q9BYG4	PAR6G_HUMAN	par-6 family cell polarity regulator gamma	137	Interaction with PARD3 and CDC42. {ECO:0000250}.|Pseudo-CRIB.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	8		all_cancers(4;5.63e-22)|all_epithelial(4;5.86e-15)|all_lung(4;1.32e-05)|Ovarian(4;1.33e-05)|Lung NSC(4;2.77e-05)|Esophageal squamous(42;0.0157)|all_hematologic(56;0.13)|Melanoma(33;0.144)		Epithelial(2;1.48e-13)|all cancers(1;5.77e-13)|OV - Ovarian serous cystadenocarcinoma(15;2.74e-10)|BRCA - Breast invasive adenocarcinoma(31;0.00166)|STAD - Stomach adenocarcinoma(84;0.18)|Lung(128;0.23)		GGAAGTCGCGCGGGAGGCCGA	0.731																																						uc002lny.2																			0					0						c.(409-411)CCG>CCA		PAR-6 gamma protein							22.0	19.0	20.0					18																	77918374		2181	4277	6458	SO:0001819	synonymous_variant	84552				cell cycle|cell division|tight junction assembly	cytosol|tight junction	protein binding	g.chr18:77918374C>T		CCDS12022.1	18q23	2013-08-28	2013-08-28		ENSG00000178184	ENSG00000178184			16076	protein-coding gene	gene with protein product		608976	"""par-6 (partitioning defective 6, C.elegans) homolog gamma"", ""par-6 partitioning defective 6 homolog gamma (C. elegans)"""			11260256	Standard	NM_032510		Approved	PAR-6G, PAR6gamma	uc002lny.3	Q9BYG4	OTTHUMG00000132922	ENST00000353265.3:c.411G>A	18.37:g.77918374C>T						LOC100130522_uc002lnx.2_Intron|LOC100130522_uc010xfn.1_Intron|LOC100130522_uc010xfo.1_Intron	p.P137P	NM_032510	NP_115899	Q9BYG4	PAR6G_HUMAN		Epithelial(2;1.48e-13)|all cancers(1;5.77e-13)|OV - Ovarian serous cystadenocarcinoma(15;2.74e-10)|BRCA - Breast invasive adenocarcinoma(31;0.00166)|STAD - Stomach adenocarcinoma(84;0.18)|Lung(128;0.23)	3	577	-		all_cancers(4;5.63e-22)|all_epithelial(4;5.86e-15)|all_lung(4;1.32e-05)|Ovarian(4;1.33e-05)|Lung NSC(4;2.77e-05)|Esophageal squamous(42;0.0157)|all_hematologic(56;0.13)|Melanoma(33;0.144)	137			Pseudo-CRIB.|Interaction with PARD3 and CDC42 (By similarity).		A8QM57	Silent	SNP	ENST00000353265.3	37	c.411G>A	CCDS12022.1																																																																																				0.731	PARD6G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256435.2	NM_032510	
C3	718	broad.mit.edu	37	19	6680227	6680227	+	Nonsense_Mutation	SNP	G	G	T			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr19:6680227G>T	ENST00000245907.6	-	36	4490	c.4398C>A	c.(4396-4398)taC>taA	p.Y1466*	C3_ENST00000599668.1_5'Flank	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1466					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)	p.Y1466*(1)		breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	CTACATTAAAGTATTGGTGAA	0.542																																						uc002mfm.2																			1	Substitution - Nonsense(1)		large_intestine(1)	skin(3)|ovary(1)|pancreas(1)	5						c.(4396-4398)TAC>TAA		complement component 3 precursor							111.0	106.0	107.0					19																	6680227		2203	4300	6503	SO:0001587	stop_gained	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6680227G>T	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.4398C>A	19.37:g.6680227G>T	ENSP00000245907:p.Tyr1466*					C3_uc002mfl.2_Nonsense_Mutation_p.Y202*	p.Y1466*	NM_000064	NP_000055	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	36	4460	-			1466					A7E236	Nonsense_Mutation	SNP	ENST00000245907.6	37	c.4398C>A	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	G	41	9.158183	0.99084	.	.	ENSG00000125730	ENST00000245907	.	.	.	4.97	1.66	0.24008	.	0.429687	0.23526	N	0.047224	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.8081	0.46529	0.2757:0.0:0.7243:0.0	.	.	.	.	X	1466	.	ENSP00000245907:Y1466X	Y	-	3	2	C3	6631227	0.119000	0.22226	0.812000	0.32479	0.250000	0.25880	0.036000	0.13819	0.528000	0.28580	-1.163000	0.01768	TAC		0.542	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064	
EMR1	2015	broad.mit.edu	37	19	6913826	6913826	+	Missense_Mutation	SNP	C	C	T	rs376031317		TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr19:6913826C>T	ENST00000312053.4	+	11	1322	c.1285C>T	c.(1285-1287)Cgg>Tgg	p.R429W	EMR1_ENST00000250572.8_Missense_Mutation_p.R429W|EMR1_ENST00000450315.3_Missense_Mutation_p.R252W|EMR1_ENST00000381407.5_Missense_Mutation_p.R288W|EMR1_ENST00000381404.4_Missense_Mutation_p.R377W	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	429	Ser/Thr-rich.				cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					TCCGGCTGTTCGGACGGAATA	0.498																																						uc002mfw.2																			0				ovary(3)|lung(1)|skin(1)	5						c.(1285-1287)CGG>TGG		egf-like module containing, mucin-like, hormone							139.0	127.0	131.0					19																	6913826		2203	4300	6503	SO:0001583	missense	2015				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:6913826C>T	X81479	CCDS12175.1, CCDS58643.1, CCDS58644.1, CCDS58645.1, CCDS58646.1	19p13.3	2014-08-08	2003-11-26					"""-"", ""GPCR / Class B : Orphans"""	3336	protein-coding gene	gene with protein product		600493	"""egf-like module containing, mucin-like, hormone receptor-like sequence 1"""	TM7LN3		7601460, 9500513	Standard	NM_001974		Approved		uc002mfw.4	Q14246		ENST00000312053.4:c.1285C>T	19.37:g.6913826C>T	ENSP00000311545:p.Arg429Trp					EMR1_uc010dvc.2_Missense_Mutation_p.R429W|EMR1_uc010dvb.2_Missense_Mutation_p.R377W|EMR1_uc010xji.1_Missense_Mutation_p.R288W|EMR1_uc010xjj.1_Missense_Mutation_p.R252W	p.R429W	NM_001974	NP_001965	Q14246	EMR1_HUMAN			11	1323	+	all_hematologic(4;0.166)		429			Ser/Thr-rich.|Extracellular (Potential).		A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Missense_Mutation	SNP	ENST00000312053.4	37	c.1285C>T	CCDS12175.1	.	.	.	.	.	.	.	.	.	.	C	15.08	2.726029	0.48833	.	.	ENSG00000174837	ENST00000543519;ENST00000312053;ENST00000381404;ENST00000250572;ENST00000381407;ENST00000450315	T;T;T;T;T	0.79033	-1.17;-1.2;-1.23;-0.02;0.3	4.95	2.48	0.30137	.	.	.	.	.	T	0.79753	0.4500	L	0.50333	1.59	0.09310	N	1	D;D;D;D;D	0.76494	0.999;0.998;0.999;0.997;0.999	P;P;P;P;P	0.60012	0.867;0.623;0.804;0.543;0.642	T	0.66344	-0.5947	9	0.51188	T	0.08	.	6.496	0.22142	0.2903:0.5374:0.1724:0.0	.	252;288;429;377;429	E7EPX9;B7Z486;Q14246-2;E9PD45;Q14246	.;.;.;.;EMR1_HUMAN	W	429;429;377;429;288;252	ENSP00000311545:R429W;ENSP00000370811:R377W;ENSP00000250572:R429W;ENSP00000370814:R288W;ENSP00000405974:R252W	ENSP00000250572:R429W	R	+	1	2	EMR1	6864826	0.000000	0.05858	0.020000	0.16555	0.003000	0.03518	0.002000	0.13061	2.301000	0.77427	0.561000	0.74099	CGG		0.498	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458485.1		
GMIP	51291	broad.mit.edu	37	19	19745707	19745707	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr19:19745707C>T	ENST00000203556.4	-	17	1918	c.1781G>A	c.(1780-1782)cGt>cAt	p.R594H	GMIP_ENST00000586269.1_5'UTR|GMIP_ENST00000587238.1_Missense_Mutation_p.R568H|GMIP_ENST00000445806.2_Missense_Mutation_p.R565H	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	594	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				intracellular signal transduction (GO:0035556)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CCGCTCCACACGGACCCGGGA	0.592																																						uc002nnd.2																			0				ovary(1)	1						c.(1780-1782)CGT>CAT		GEM interacting protein							44.0	49.0	47.0					19																	19745707		2203	4300	6503	SO:0001583	missense	51291				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity	g.chr19:19745707C>T	AF132541	CCDS12408.1, CCDS74318.1	19p13.11	2011-09-07				ENSG00000089639		"""Rho GTPase activating proteins"""	24852	protein-coding gene	gene with protein product		609694				12093360, 16086184	Standard	XM_005259927		Approved	ARHGAP46	uc002nnd.3	Q9P107		ENST00000203556.4:c.1781G>A	19.37:g.19745707C>T	ENSP00000203556:p.Arg594His					GMIP_uc010xrb.1_Missense_Mutation_p.R568H|GMIP_uc010xrc.1_Missense_Mutation_p.R565H	p.R594H	NM_016573	NP_057657	Q9P107	GMIP_HUMAN			17	1898	-			594			Rho-GAP.		A0AVN9|B7ZLZ0	Missense_Mutation	SNP	ENST00000203556.4	37	c.1781G>A	CCDS12408.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.623798	0.87460	.	.	ENSG00000089639	ENST00000203556;ENST00000445806	T;T	0.20069	2.1;2.1	5.07	5.07	0.68467	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.41001	D	0.000961	T	0.44912	0.1316	M	0.72624	2.21	0.80722	D	1	D;P;D	0.89917	1.0;0.889;1.0	D;P;D	0.97110	1.0;0.771;1.0	T	0.22661	-1.0210	10	0.27082	T	0.32	-13.5808	15.9259	0.79615	0.0:1.0:0.0:0.0	.	565;568;594	E7ERB7;B7ZLZ0;Q9P107	.;.;GMIP_HUMAN	H	594;565	ENSP00000203556:R594H;ENSP00000397075:R565H	ENSP00000203556:R594H	R	-	2	0	GMIP	19606707	1.000000	0.71417	0.682000	0.30024	0.854000	0.48673	7.426000	0.80270	2.359000	0.80004	0.561000	0.74099	CGT		0.592	GMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460551.1	NM_016573	
CD22	933	broad.mit.edu	37	19	35837554	35837554	+	Missense_Mutation	SNP	G	G	A	rs571005886	byFrequency	TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr19:35837554G>A	ENST00000085219.5	+	14	2564	c.2498G>A	c.(2497-2499)cGg>cAg	p.R833Q	CD22_ENST00000536635.2_Missense_Mutation_p.R745Q|MIR5196_ENST00000578146.1_RNA|CD22_ENST00000341773.6_Missense_Mutation_p.R656Q|CD22_ENST00000544992.2_3'UTR|CD22_ENST00000270311.6_Missense_Mutation_p.R648Q|CD22_ENST00000594250.1_Missense_Mutation_p.R656Q|CD22_ENST00000419549.2_Missense_Mutation_p.R661Q	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	833					cell adhesion (GO:0007155)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GTCGGGGAGCGGCCTCAGGCA	0.547													G|||	2	0.000399361	0.0	0.0	5008	,	,		17199	0.0		0.0	False		,,,				2504	0.002				Ovarian(42;1009 1133 23674 26041)	uc010edt.2																			0				ovary(5)|lung(3)|breast(1)	9						c.(2497-2499)CGG>CAG		CD22 molecule precursor	OspA lipoprotein(DB00045)						55.0	45.0	48.0					19																	35837554		2203	4300	6503	SO:0001583	missense	933				cell adhesion		protein binding|sugar binding	g.chr19:35837554G>A	X52785	CCDS12457.1, CCDS54247.1, CCDS54248.1, CCDS54249.1, CCDS62634.1	19q13.1	2013-01-29	2006-03-28		ENSG00000012124	ENSG00000012124		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1643	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 2"""	107266	"""CD22 antigen"""			8496602, 1691828	Standard	NM_001185099		Approved	SIGLEC-2, SIGLEC2	uc010edt.3	P20273		ENST00000085219.5:c.2498G>A	19.37:g.35837554G>A	ENSP00000085219:p.Arg833Gln					CD22_uc010xst.1_Missense_Mutation_p.R661Q|CD22_uc010edu.2_Missense_Mutation_p.R745Q|CD22_uc010edv.2_3'UTR|CD22_uc002nzb.3_Missense_Mutation_p.R656Q|CD22_uc010edx.2_RNA	p.R833Q	NM_001771	NP_001762	P20273	CD22_HUMAN	Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		14	2575	+	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		833			Cytoplasmic (Potential).		F5GYU4|F5H7U3|O95699|O95701|O95702|O95703|Q01665|Q32M46|Q92872|Q92873|Q9UQA6|Q9UQA7|Q9UQA8|Q9UQA9|Q9UQB0|Q9Y2A6	Missense_Mutation	SNP	ENST00000085219.5	37	c.2498G>A	CCDS12457.1	.	.	.	.	.	.	.	.	.	.	G	34	5.324866	0.95708	.	.	ENSG00000012124	ENST00000085219;ENST00000536635;ENST00000341773;ENST00000270311;ENST00000419549	T;T;T;T;T	0.59906	0.74;0.3;0.23;0.5;0.81	4.58	4.58	0.56647	.	0.000000	0.45126	D	0.000388	T	0.67031	0.2850	M	0.76574	2.34	0.32246	N	0.572008	D;D;D;D	0.69078	0.957;0.992;0.959;0.997	B;P;B;P	0.53006	0.207;0.605;0.207;0.715	T	0.77294	-0.2641	10	0.72032	D	0.01	.	12.8196	0.57685	0.0:0.0:1.0:0.0	.	661;745;833;656	Q32M46;F5H7U3;P20273;P20273-2	.;.;CD22_HUMAN;.	Q	833;745;656;648;661	ENSP00000085219:R833Q;ENSP00000442279:R745Q;ENSP00000339349:R656Q;ENSP00000270311:R648Q;ENSP00000403822:R661Q	ENSP00000085219:R833Q	R	+	2	0	CD22	40529394	0.772000	0.28567	0.984000	0.44739	0.758000	0.43043	2.990000	0.49401	2.410000	0.81850	0.461000	0.40582	CGG		0.547	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466099.1	NM_001771	
SIPA1L3	23094	broad.mit.edu	37	19	38633315	38633315	+	Silent	SNP	G	G	T	rs142547881		TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr19:38633315G>T	ENST00000222345.6	+	12	4007	c.3498G>T	c.(3496-3498)tcG>tcT	p.S1166S		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1166					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CCCCCGGTTCGGCCACCTACG	0.557											OREG0025445	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002ohk.2																			0				ovary(1)|central_nervous_system(1)	2						c.(3496-3498)TCG>TCT		signal-induced proliferation-associated 1 like							170.0	165.0	167.0					19																	38633315		2203	4300	6503	SO:0001819	synonymous_variant	23094				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr19:38633315G>T	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.3498G>T	19.37:g.38633315G>T			OREG0025445	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	879		p.S1166S	NM_015073	NP_055888	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		12	4007	+			1166					Q2TV87	Silent	SNP	ENST00000222345.6	37	c.3498G>T	CCDS33007.1																																																																																				0.557	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278	
LGALS13	29124	broad.mit.edu	37	19	40097889	40097889	+	Silent	SNP	C	C	T			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr19:40097889C>T	ENST00000221797.4	+	4	375	c.330C>T	c.(328-330)taC>taT	p.Y110Y		NM_013268.2	NP_037400.1	Q9UHV8	PP13_HUMAN	lectin, galactoside-binding, soluble, 13	110	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.				apoptotic process (GO:0006915)|phospholipid metabolic process (GO:0006644)		carbohydrate binding (GO:0030246)|lysophospholipase activity (GO:0004622)			lung(5)|ovary(1)|urinary_tract(1)	7	all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116)		Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)			TACGCATTTACGGCTTTGTCC	0.463																																						uc002omb.2																			0				ovary(1)	1						c.(328-330)TAC>TAT		galectin-13							190.0	149.0	163.0					19																	40097889		2203	4300	6503	SO:0001819	synonymous_variant	29124				lipid catabolic process|phospholipid metabolic process		carboxylesterase activity|lysophospholipase activity|sugar binding	g.chr19:40097889C>T	AF117383	CCDS33024.1	19q13.2	2014-03-19	2008-07-25		ENSG00000105198	ENSG00000105198		"""Lectins, galactoside-binding"""	15449	protein-coding gene	gene with protein product	"""galectin 13"""	608717				6856484, 10527825	Standard	NM_013268		Approved	PP13, PLAC8	uc002omb.3	Q9UHV8	OTTHUMG00000183073	ENST00000221797.4:c.330C>T	19.37:g.40097889C>T							p.Y110Y	NM_013268	NP_037400	Q9UHV8	PP13_HUMAN	Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)		4	370	+	all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116)		110			Galectin.		C5HZ15	Silent	SNP	ENST00000221797.4	37	c.330C>T	CCDS33024.1																																																																																				0.463	LGALS13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464968.1	NM_013268	
RUVBL2	10856	broad.mit.edu	37	19	49507675	49507675	+	Splice_Site	SNP	G	G	A			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr19:49507675G>A	ENST00000595090.1	+	4	729	c.265G>A	c.(265-267)Ggc>Agc	p.G89S	RUVBL2_ENST00000601968.1_Splice_Site_p.G44S|RUVBL2_ENST00000413176.2_Splice_Site_p.G44S	NM_006666.1	NP_006657.1	Q9Y230	RUVB2_HUMAN	RuvB-like AAA ATPase 2	89					ATP catabolic process (GO:0006200)|cellular response to estradiol stimulus (GO:0071392)|cellular response to UV (GO:0034644)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|establishment of protein localization to chromatin (GO:0071169)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of estrogen receptor binding (GO:0071899)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein folding (GO:0006457)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)|transcriptional activation by promoter-enhancer looping (GO:0071733)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Ino80 complex (GO:0031011)|intracellular (GO:0005622)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|NuA4 histone acetyltransferase complex (GO:0035267)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent DNA helicase activity (GO:0004003)|chromatin DNA binding (GO:0031490)|damaged DNA binding (GO:0003684)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|unfolded protein binding (GO:0051082)			large_intestine(1)|upper_aerodigestive_tract(1)	2		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		CATCGCCATGGGTAAGAAACC	0.582																																						uc002plr.1																			0					0						c.(265-267)GGC>AGC		RuvB-like 2							42.0	46.0	45.0					19																	49507675		1931	4133	6064	SO:0001630	splice_region_variant	10856				cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding	g.chr19:49507675G>A	AF155138	CCDS42588.1	19q13.3	2013-09-12	2013-09-12					"""INO80 complex subunits"", ""ATPases / AAA-type"""	10475	protein-coding gene	gene with protein product	"""reptin"", ""INO80 complex subunit J"""	604788	"""RuvB (E coli homolog)-like 2"", ""RuvB-like 2 (E. coli)"""			10428817, 10998447	Standard	XM_005258426		Approved	RVB2, TIP48, TIP49b, Reptin52, ECP51, TIH2, INO80J, Rvb2	uc002plr.1	Q9Y230		ENST00000595090.1:c.265+1G>A	19.37:g.49507675G>A						RUVBL2_uc002plq.1_Missense_Mutation_p.G44S|RUVBL2_uc010yab.1_Missense_Mutation_p.G89S|RUVBL2_uc002pls.1_RNA|RUVBL2_uc010emn.1_Missense_Mutation_p.G44S|RUVBL2_uc010yac.1_Missense_Mutation_p.G44S	p.G89S	NM_006666	NP_006657	Q9Y230	RUVB2_HUMAN		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)	4	278	+		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	89					B3KQ59|E7ETE5|Q6FIB9|Q6PK27|Q9Y361	Missense_Mutation	SNP	ENST00000595090.1	37	c.265G>A	CCDS42588.1	.	.	.	.	.	.	.	.	.	.	G	30	5.058045	0.93846	.	.	ENSG00000183207	ENST00000221413;ENST00000413176	T;T	0.55760	0.5;0.75	5.14	5.14	0.70334	TIP49, C-terminal (1);ATPase, AAA+ type, core (1);	0.051987	0.85682	D	0.000000	T	0.79753	0.4500	M	0.94142	3.5	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.69824	0.966;0.95;0.96	D	0.85292	0.1068	10	0.66056	D	0.02	-33.181	16.482	0.84160	0.0:0.0:1.0:0.0	.	89;89;55	B4DW30;Q9Y230;B3KNL2	.;RUVB2_HUMAN;.	S	89;44	ENSP00000221413:G89S;ENSP00000413890:G44S	ENSP00000221413:G89S	G	+	1	0	RUVBL2	54199487	1.000000	0.71417	1.000000	0.80357	0.671000	0.39405	8.639000	0.91023	2.587000	0.87381	0.561000	0.74099	GGC		0.582	RUVBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466235.1		Missense_Mutation
ZNF534	147658	broad.mit.edu	37	19	52942496	52942496	+	Nonsense_Mutation	SNP	C	C	T	rs200476034	byFrequency	TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr19:52942496C>T	ENST00000332323.6	+	4	1883	c.1822C>T	c.(1822-1824)Cga>Tga	p.R608*	ZNF534_ENST00000432303.2_Intron|ZNF534_ENST00000433050.1_Nonsense_Mutation_p.R595*|ZNF534_ENST00000301085.4_Intron	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	608					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						ACACCTTGCGCGACATAGGAA	0.423													C|||	3	0.000599042	0.0023	0.0	5008	,	,		20510	0.0		0.0	False		,,,				2504	0.0					uc002pzk.2																			0					0						c.(1822-1824)CGA>TGA		zinc finger protein 534 isoform 2																																				SO:0001587	stop_gained	147658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52942496C>T	AK058073	CCDS46165.1, CCDS46166.1	19q13.41	2013-01-08	2004-02-06	2004-02-11	ENSG00000198633	ENSG00000198633		"""Zinc fingers, C2H2-type"", ""-"""	26337	protein-coding gene	gene with protein product			"""KRAB domain only 3"""	KRBO3			Standard	NM_001143938		Approved	FLJ25344	uc002pzk.3	Q76KX8	OTTHUMG00000156493	ENST00000332323.6:c.1822C>T	19.37:g.52942496C>T	ENSP00000327538:p.Arg608*					ZNF534_uc002pzj.1_Intron|ZNF534_uc010epo.1_Intron|ZNF534_uc002pzl.2_Nonsense_Mutation_p.R595*	p.R608*	NM_001143939	NP_001137411	Q76KX8	ZN534_HUMAN			4	1883	+			608			C2H2-type 15.		Q76KX9	Nonsense_Mutation	SNP	ENST00000332323.6	37	c.1822C>T	CCDS46165.1	.	.	.	.	.	.	.	.	.	.	C	14.51	2.558436	0.45590	.	.	ENSG00000198633	ENST00000332323;ENST00000433050;ENST00000391790	.	.	.	1.72	-3.44	0.04796	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	.	5.4312	0.16454	0.469:0.2188:0.3122:0.0	.	.	.	.	X	608;595;607	.	ENSP00000327538:R608X	R	+	1	2	ZNF534	57634308	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-9.365000	0.00012	-1.735000	0.01353	-0.747000	0.03512	CGA		0.423	ZNF534-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460877.1	NM_182512	
ZSCAN5B	342933	broad.mit.edu	37	19	56701664	56701664	+	Silent	SNP	C	C	T	rs367587385		TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr19:56701664C>T	ENST00000586855.2	-	5	1333	c.1020G>A	c.(1018-1020)ccG>ccA	p.P340P	ZSCAN5B_ENST00000358992.3_Silent_p.P340P			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	340					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GGTGACTGACCGGGCCCGCAG	0.542																																						uc010ygh.1																			0				ovary(1)|skin(1)	2						c.(1018-1020)CCG>CCA		zinc finger and SCAN domain containing 5B		C		5,4399	6.2+/-15.9	0,5,2197	79.0	85.0	83.0		1020	-3.9	0.0	19		83	0,8600		0,0,4300	no	coding-synonymous	ZSCAN5B	NM_001080456.2		0,5,6497	TT,TC,CC		0.0,0.1135,0.0384		340/496	56701664	5,12999	2202	4300	6502	SO:0001819	synonymous_variant	342933				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:56701664C>T		CCDS46203.1	19q13.42	2013-01-08			ENSG00000197213	ENSG00000197213		"""-"", ""Zinc fingers, C2H2-type"""	34246	protein-coding gene	gene with protein product							Standard	NM_001080456		Approved	ZNF495B, ZNF371	uc010ygh.2	A6NJL1		ENST00000586855.2:c.1020G>A	19.37:g.56701664C>T							p.P340P	NM_001080456	NP_001073925	A6NJL1	ZSA5B_HUMAN			4	1020	-			340						Silent	SNP	ENST00000586855.2	37	c.1020G>A	CCDS46203.1																																																																																				0.542	ZSCAN5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457834.2	NM_001080456	
RPS5	6193	broad.mit.edu	37	19	58904370	58904370	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr19:58904370G>T	ENST00000596046.1	+	2	985	c.136G>T	c.(136-138)Gcc>Tcc	p.A46S	RPS5_ENST00000601521.1_Missense_Mutation_p.A46S|RPS5_ENST00000196551.3_Missense_Mutation_p.A46S|RPS5_ENST00000598495.1_Missense_Mutation_p.A67S|RPS5_ENST00000598098.1_Intron			P46782	RS5_HUMAN	ribosomal protein S5	46					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational fidelity (GO:0006450)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			cervix(1)|large_intestine(1)|lung(1)|prostate(1)	4		all_cancers(17;1.71e-22)|all_epithelial(17;1.69e-16)|Lung NSC(17;2.25e-06)|all_lung(17;9.97e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Breast(46;0.0194)|Ovarian(87;0.0443)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.171)|GBM - Glioblastoma multiforme(193;0.0323)|Lung(386;0.0543)|LUSC - Lung squamous cell carcinoma(496;0.176)		GGAGAAGTATGCCAAGTACCT	0.557																																						uc002qsn.2																			0					0						c.(136-138)GCC>TCC		ribosomal protein S5							39.0	33.0	35.0					19																	58904370		2203	4300	6503	SO:0001583	missense	6193				endocrine pancreas development|regulation of translational fidelity|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	mRNA binding|structural constituent of ribosome	g.chr19:58904370G>T	U14970	CCDS12978.1	19q13.4	2011-04-05				ENSG00000083845		"""S ribosomal proteins"""	10426	protein-coding gene	gene with protein product	"""40S ribosomal protein S5"""	603630				7772601, 9582194	Standard	NM_001009		Approved	S5	uc002qsn.3	P46782		ENST00000596046.1:c.136G>T	19.37:g.58904370G>T	ENSP00000472985:p.Ala46Ser					RPS5_uc002qso.2_Missense_Mutation_p.A46S	p.A46S	NM_001009	NP_001000	P46782	RS5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.171)|GBM - Glioblastoma multiforme(193;0.0323)|Lung(386;0.0543)|LUSC - Lung squamous cell carcinoma(496;0.176)	3	208	+		all_cancers(17;1.71e-22)|all_epithelial(17;1.69e-16)|Lung NSC(17;2.25e-06)|all_lung(17;9.97e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Breast(46;0.0194)|Ovarian(87;0.0443)|Medulloblastoma(540;0.184)	46					B2R4T2|Q96BN0	Missense_Mutation	SNP	ENST00000596046.1	37	c.136G>T	CCDS12978.1	.	.	.	.	.	.	.	.	.	.	G	19.05	3.752311	0.69533	.	.	ENSG00000083845	ENST00000196551	.	.	.	4.53	4.53	0.55603	Ribosomal protein S7 domain (2);	0.000000	0.85682	D	0.000000	T	0.57989	0.2091	L	0.45698	1.435	0.80722	D	1	B	0.14805	0.011	B	0.22386	0.039	T	0.59947	-0.7358	9	0.72032	D	0.01	-24.5951	15.5578	0.76213	0.0:0.0:1.0:0.0	.	46	P46782	RS5_HUMAN	S	46	.	ENSP00000196551:A46S	A	+	1	0	RPS5	63596182	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.303000	0.89955	2.464000	0.83262	0.655000	0.94253	GCC		0.557	RPS5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467016.1	NM_001009	
CLIP4	79745	broad.mit.edu	37	2	29386734	29386734	+	Silent	SNP	C	C	G			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr2:29386734C>G	ENST00000320081.5	+	13	1827	c.1572C>G	c.(1570-1572)ggC>ggG	p.G524G	CLIP4_ENST00000404424.1_Silent_p.G524G|CLIP4_ENST00000401605.1_Silent_p.G524G|CLIP4_ENST00000401617.2_Silent_p.G417G	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	524	CAP-Gly 2. {ECO:0000255|PROSITE- ProRule:PRU00045}.									endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					AACCCCATGGCAAGAATGATG	0.388																																						uc002rmv.2																			0				ovary(1)	1						c.(1570-1572)GGC>GGG		CAP-GLY domain containing linker protein family,							145.0	137.0	140.0					2																	29386734		2203	4300	6503	SO:0001819	synonymous_variant	79745							g.chr2:29386734C>G	AK024722	CCDS1770.1, CCDS74502.1	2p23	2013-01-10	2007-01-04	2007-01-04	ENSG00000115295	ENSG00000115295		"""Ankyrin repeat domain containing"""	26108	protein-coding gene	gene with protein product			"""restin-like 2"""	RSNL2			Standard	XM_005264562		Approved	FLJ21069	uc002rmv.3	Q8N3C7	OTTHUMG00000097837	ENST00000320081.5:c.1572C>G	2.37:g.29386734C>G						CLIP4_uc002rmu.2_Silent_p.G524G|CLIP4_uc002rmw.2_RNA	p.G524G	NM_024692	NP_078968	Q8N3C7	CLIP4_HUMAN			13	1811	+	Acute lymphoblastic leukemia(172;0.155)		524			CAP-Gly 2.		A0AV10|B2RMQ3|B7Z7N8|Q7Z4U3|Q96BR7|Q96MA5|Q9H7C0	Silent	SNP	ENST00000320081.5	37	c.1572C>G	CCDS1770.1																																																																																				0.388	CLIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215123.2	NM_024692	
ACTG2	72	broad.mit.edu	37	2	74128551	74128551	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr2:74128551G>A	ENST00000409624.1	+	3	756	c.113G>A	c.(112-114)cGc>cAc	p.R38H	ACTG2_ENST00000409731.3_Missense_Mutation_p.R38H|ACTG2_ENST00000345517.3_Missense_Mutation_p.R38H|ACTG2_ENST00000409918.1_Missense_Mutation_p.R38H			P63267	ACTH_HUMAN	actin, gamma 2, smooth muscle, enteric	38					muscle contraction (GO:0006936)	blood microparticle (GO:0072562)|cell periphery (GO:0071944)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			large_intestine(3)|lung(14)|skin(1)	18						ATTGTGGGCCGCCCTCGCCAC	0.637																																						uc002sjw.2																			0					0						c.(112-114)CGC>CAC		actin, gamma 2 propeptide							61.0	59.0	60.0					2																	74128551		2203	4300	6503	SO:0001583	missense	72				muscle contraction	cytoskeleton|cytosol	ATP binding	g.chr2:74128551G>A		CCDS1930.1, CCDS56124.1	2p13.1	2008-05-20			ENSG00000163017	ENSG00000163017			145	protein-coding gene	gene with protein product		102545		ACTL3, ACTA3		1710027, 1673027	Standard	NM_001199893		Approved	ACTSG	uc002sjw.3	P63267	OTTHUMG00000129813	ENST00000409624.1:c.113G>A	2.37:g.74128551G>A	ENSP00000386857:p.Arg38His					ACTG2_uc010fex.1_Missense_Mutation_p.R38H|ACTG2_uc010fey.2_Missense_Mutation_p.R38H|ACTG2_uc010yrn.1_Missense_Mutation_p.R38H	p.R38H	NM_001615	NP_001606	P63267	ACTH_HUMAN			2	235	+			38					B2R7E7|B4E315|D6W5H8|E9PG30|P12718|Q504R1|Q6FI22	Missense_Mutation	SNP	ENST00000409624.1	37	c.113G>A	CCDS1930.1	.	.	.	.	.	.	.	.	.	.	G	15.15	2.747351	0.49257	.	.	ENSG00000163017	ENST00000409731;ENST00000345517;ENST00000409918;ENST00000442912;ENST00000409624	D;D;D;D;D	0.97480	-4.4;-2.96;-2.96;-2.96;-2.96	3.93	3.93	0.45458	.	0.000000	0.64402	D	0.000001	D	0.98058	0.9360	M	0.81239	2.535	0.44927	D	0.997948	B;D;B	0.76494	0.293;0.999;0.172	B;D;B	0.63877	0.187;0.919;0.136	D	0.98824	1.0748	10	0.87932	D	0	.	15.2323	0.73401	0.0:0.0:1.0:0.0	.	38;38;38	E9PG30;B8ZZJ2;P63267	.;.;ACTH_HUMAN	H	38	ENSP00000386929:R38H;ENSP00000295137:R38H;ENSP00000387182:R38H;ENSP00000410020:R38H;ENSP00000386857:R38H	ENSP00000295137:R38H	R	+	2	0	ACTG2	73982059	1.000000	0.71417	1.000000	0.80357	0.393000	0.30537	9.560000	0.98139	2.199000	0.70637	0.305000	0.20034	CGC		0.637	ACTG2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328086.1	NM_001615	
CNTNAP5	129684	broad.mit.edu	37	2	125547685	125547685	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr2:125547685A>T	ENST00000431078.1	+	18	3320	c.2956A>T	c.(2956-2958)Aat>Tat	p.N986Y		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	986	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TGATTGCACCAATTCACCTTA	0.552																																						uc002tno.2																			0				ovary(10)	10						c.(2956-2958)AAT>TAT		contactin associated protein-like 5 precursor							63.0	70.0	67.0					2																	125547685		2074	4203	6277	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125547685A>T	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.2956A>T	2.37:g.125547685A>T	ENSP00000399013:p.Asn986Tyr					CNTNAP5_uc010flu.2_Missense_Mutation_p.N987Y	p.N986Y	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	18	3320	+			986			EGF-like 2.|Extracellular (Potential).		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.2956A>T	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	A	0.036	-1.305334	0.01353	.	.	ENSG00000155052	ENST00000431078	T	0.76186	-1.0	5.62	4.44	0.53790	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.353536	0.23336	N	0.049281	T	0.65657	0.2712	L	0.53561	1.675	0.32106	N	0.590014	B	0.27559	0.181	B	0.29785	0.107	T	0.60944	-0.7162	10	0.02654	T	1	.	12.2273	0.54468	0.8575:0.1425:0.0:0.0	.	986	Q8WYK1	CNTP5_HUMAN	Y	986	ENSP00000399013:N986Y	ENSP00000399013:N986Y	N	+	1	0	CNTNAP5	125264155	0.600000	0.26899	0.816000	0.32577	0.189000	0.23516	3.096000	0.50243	1.039000	0.40074	0.533000	0.62120	AAT		0.552	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3		
CDCA7	83879	broad.mit.edu	37	2	174231123	174231123	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr2:174231123G>A	ENST00000347703.3	+	7	1055	c.911G>A	c.(910-912)cGt>cAt	p.R304H	CDCA7_ENST00000392567.2_Intron|CDCA7_ENST00000306721.3_Missense_Mutation_p.R383H|CDCA7_ENST00000410019.3_Missense_Mutation_p.R262H|CDCA7_ENST00000410101.3_Missense_Mutation_p.R339H	NM_145810.2	NP_665809.1	Q9BWT1	CDCA7_HUMAN	cell division cycle associated 7	304	Mediates transcriptional activity.				apoptotic process (GO:0006915)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.116)			CTTCGAAACCGTTATGGTGAA	0.557																																						uc002uid.1																			0				ovary(1)	1						c.(910-912)CGT>CAT		cell division cycle associated 7 isoform 2							132.0	123.0	126.0					2																	174231123		2203	4300	6503	SO:0001583	missense	83879				regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr2:174231123G>A	BG354580	CCDS2252.1, CCDS2253.1	2q31.1	2008-02-05			ENSG00000144354	ENSG00000144354			14628	protein-coding gene	gene with protein product		609937				11598121, 12188893	Standard	NM_145810		Approved	FLJ14736, JPO1	uc002uic.1	Q9BWT1	OTTHUMG00000132296	ENST00000347703.3:c.911G>A	2.37:g.174231123G>A	ENSP00000272789:p.Arg304His					CDCA7_uc002uic.1_Missense_Mutation_p.R383H|CDCA7_uc010zej.1_Missense_Mutation_p.R339H|CDCA7_uc010zek.1_Missense_Mutation_p.R262H	p.R304H	NM_145810	NP_665809	Q9BWT1	CDCA7_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.116)		7	1042	+			304			Mediates transcriptional activity.		B4DLP8|B4DV66|Q53EW5|Q580W9|Q658K4|Q658N4|Q8NBY9|Q96BV8|Q96SP5	Missense_Mutation	SNP	ENST00000347703.3	37	c.911G>A	CCDS2253.1	.	.	.	.	.	.	.	.	.	.	G	32	5.169493	0.94768	.	.	ENSG00000144354	ENST00000347703;ENST00000306721;ENST00000410101;ENST00000410019	T;T;T;T	0.69040	-0.19;-0.37;-0.25;-0.17	5.67	5.67	0.87782	Zinc-finger domain of monoamine-oxidase A repressor R1 (1);	0.000000	0.85682	D	0.000000	T	0.76579	0.4007	M	0.80332	2.49	0.80722	D	1	P;P;D;D	0.53462	0.906;0.778;0.959;0.96	P;P;P;P	0.48089	0.458;0.479;0.563;0.566	T	0.80511	-0.1350	10	0.72032	D	0.01	-16.081	19.773	0.96379	0.0:0.0:1.0:0.0	.	262;339;304;383	B4DLP8;B4DV66;Q9BWT1;Q9BWT1-2	.;.;CDCA7_HUMAN;.	H	304;383;339;262	ENSP00000272789:R304H;ENSP00000306968:R383H;ENSP00000386656:R339H;ENSP00000386833:R262H	ENSP00000306968:R383H	R	+	2	0	CDCA7	173939369	1.000000	0.71417	0.996000	0.52242	0.968000	0.65278	9.831000	0.99420	2.677000	0.91161	0.655000	0.94253	CGT		0.557	CDCA7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255400.1	NM_031942	
OSBPL6	114880	broad.mit.edu	37	2	179238622	179238622	+	Silent	SNP	T	T	G			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr2:179238622T>G	ENST00000190611.4	+	15	1777	c.1401T>G	c.(1399-1401)ggT>ggG	p.G467G	OSBPL6_ENST00000357080.4_Silent_p.G400G|OSBPL6_ENST00000409631.1_Silent_p.G431G|OSBPL6_ENST00000392505.2_Silent_p.G492G|OSBPL6_ENST00000359685.3_Silent_p.G431G|OSBPL6_ENST00000409045.3_Silent_p.G436G|OSBPL6_ENST00000315022.2_Silent_p.G471G	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	467					lipid transport (GO:0006869)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			TGCAGGCTGGTGAGCAAATCC	0.438																																						uc002ulx.2																			0				pancreas(1)	1						c.(1399-1401)GGT>GGG		oxysterol-binding protein-like protein 6 isoform							89.0	78.0	81.0					2																	179238622		2203	4300	6503	SO:0001819	synonymous_variant	114880				lipid transport		lipid binding	g.chr2:179238622T>G	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.1401T>G	2.37:g.179238622T>G						OSBPL6_uc002ulw.2_Silent_p.G400G|OSBPL6_uc002uly.2_Silent_p.G492G|OSBPL6_uc010zfe.1_Silent_p.G436G|OSBPL6_uc002ulz.2_Silent_p.G431G|OSBPL6_uc002uma.2_Silent_p.G471G	p.G467G	NM_032523	NP_115912	Q9BZF3	OSBL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)		15	1779	+			467					B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q86V84|Q8N9T0|Q96SR1	Silent	SNP	ENST00000190611.4	37	c.1401T>G	CCDS2277.1																																																																																				0.438	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334393.2	NM_032523	
IRS1	3667	broad.mit.edu	37	2	227661504	227661504	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr2:227661504T>C	ENST00000305123.5	-	1	2971	c.1951A>G	c.(1951-1953)Aga>Gga	p.R651G	IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	651					cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GGATGGCGTCTGATGGGATTG	0.612											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002voh.3																			0				lung(5)|central_nervous_system(4)|ovary(2)|pancreas(1)	12						c.(1951-1953)AGA>GGA		insulin receptor substrate 1							96.0	88.0	91.0					2																	227661504		2203	4300	6503	SO:0001583	missense	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227661504T>C		CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"""Pleckstrin homology (PH) domain containing"""	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.1951A>G	2.37:g.227661504T>C	ENSP00000304895:p.Arg651Gly		OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2321		p.R651G	NM_005544	NP_005535	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	1	2003	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	651						Missense_Mutation	SNP	ENST00000305123.5	37	c.1951A>G	CCDS2463.1	.	.	.	.	.	.	.	.	.	.	T	7.809	0.715308	0.15306	.	.	ENSG00000169047	ENST00000305123	T	0.58797	0.31	4.7	2.2	0.27929	.	0.070853	0.56097	D	0.000029	T	0.38799	0.1054	N	0.19112	0.55	0.34460	D	0.7016	B	0.26635	0.155	B	0.24155	0.051	T	0.45571	-0.9252	10	0.30854	T	0.27	-11.5177	11.2857	0.49220	0.0:0.0:0.3671:0.6329	.	651	P35568	IRS1_HUMAN	G	651	ENSP00000304895:R651G	ENSP00000304895:R651G	R	-	1	2	IRS1	227369748	0.963000	0.33076	0.998000	0.56505	0.996000	0.88848	0.082000	0.14847	0.759000	0.33084	0.459000	0.35465	AGA		0.612	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544	
KIF16B	55614	broad.mit.edu	37	20	16407806	16407806	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr20:16407806C>A	ENST00000354981.2	-	15	1712	c.1555G>T	c.(1555-1557)Ggg>Tgg	p.G519W	KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000408042.1_Missense_Mutation_p.G519W|KIF16B_ENST00000355755.3_Missense_Mutation_p.G519W	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	519	FHA.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						CACTGGGACCCACTCAGGGGT	0.428																																						uc002wpg.1																			0				skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1)	8						c.(1555-1557)GGG>TGG		kinesin-like motor protein C20orf23							115.0	119.0	118.0					20																	16407806		2203	4300	6503	SO:0001583	missense	55614				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	g.chr20:16407806C>A	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.1555G>T	20.37:g.16407806C>A	ENSP00000347076:p.Gly519Trp					KIF16B_uc010gch.1_Missense_Mutation_p.G519W|KIF16B_uc010gci.1_Missense_Mutation_p.G519W|KIF16B_uc010gcj.1_Missense_Mutation_p.G519W	p.G519W	NM_024704	NP_078980	Q96L93	KI16B_HUMAN			15	1713	-			519			FHA.		A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Missense_Mutation	SNP	ENST00000354981.2	37	c.1555G>T	CCDS13122.1	.	.	.	.	.	.	.	.	.	.	C	19.76	3.887907	0.72410	.	.	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000377997;ENST00000408042	D;D;D	0.86956	-2.19;-2.19;-2.19	5.62	4.68	0.58851	Forkhead-associated (FHA) domain (3);SMAD/FHA domain (1);	0.165406	0.52532	D	0.000074	D	0.93930	0.8057	M	0.87682	2.9	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.995;0.998;0.995;0.997	D	0.94788	0.7959	10	0.87932	D	0	.	14.397	0.67018	0.0:0.9291:0.0:0.0709	.	519;519;519;519	Q96L93-4;Q96L93-2;Q96L93-6;Q96L93	.;.;.;KI16B_HUMAN	W	519	ENSP00000347076:G519W;ENSP00000347995:G519W;ENSP00000384164:G519W	ENSP00000347076:G519W	G	-	1	0	KIF16B	16355806	0.993000	0.37304	0.999000	0.59377	0.977000	0.68977	3.253000	0.51469	1.380000	0.46344	0.650000	0.86243	GGG		0.428	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683	
DIDO1	11083	broad.mit.edu	37	20	61542712	61542712	+	Missense_Mutation	SNP	C	C	T	rs138139875		TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr20:61542712C>T	ENST00000266070.4	-	3	578	c.253G>A	c.(253-255)Ggc>Agc	p.G85S	DIDO1_ENST00000395335.2_Missense_Mutation_p.G85S|DIDO1_ENST00000370368.1_Missense_Mutation_p.G85S|DIDO1_ENST00000395343.1_Missense_Mutation_p.G85S|DIDO1_ENST00000370371.4_Missense_Mutation_p.G85S|DIDO1_ENST00000370366.1_Missense_Mutation_p.G85S|DIDO1_ENST00000354665.4_Missense_Mutation_p.G85S|DIDO1_ENST00000266071.5_Missense_Mutation_p.G85S|DIDO1_ENST00000395340.1_Missense_Mutation_p.G85S	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	85					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CTCCTCCTGCCGCGGCGCCGC	0.701																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	uc002ydr.1																			0				ovary(3)|skin(3)	6						c.(253-255)GGC>AGC		death inducer-obliterator 1 isoform c		C	SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY	0,4404		0,0,2202	27.0	26.0	26.0		253,253,253,253,253,253	5.7	0.7	20	dbSNP_134	26	1,8595		0,1,4297	no	missense,missense,missense,missense,missense,missense	DIDO1	NM_001193369.1,NM_001193370.1,NM_022105.4,NM_033081.2,NM_080796.3,NM_080797.3	56,56,56,56,56,56	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	85/2241,85/1190,85/563,85/2241,85/563,85/1190	61542712	1,12999	2202	4298	6500	SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61542712C>T	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.253G>A	20.37:g.61542712C>T	ENSP00000266070:p.Gly85Ser					DIDO1_uc002yds.1_Missense_Mutation_p.G85S|DIDO1_uc002ydt.1_Missense_Mutation_p.G85S|DIDO1_uc002ydu.1_Missense_Mutation_p.G85S|DIDO1_uc002ydv.1_Missense_Mutation_p.G85S|DIDO1_uc002ydw.1_Missense_Mutation_p.G85S|DIDO1_uc002ydx.1_Missense_Mutation_p.G85S|DIDO1_uc011aao.1_Missense_Mutation_p.G85S	p.G85S	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN			3	517	-	Breast(26;5.68e-08)		85					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	c.253G>A	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	C	14.61	2.587407	0.46110	0.0	1.16E-4	ENSG00000101191	ENST00000266070;ENST00000395343;ENST00000395340;ENST00000395335;ENST00000370371;ENST00000370368;ENST00000354665;ENST00000370366;ENST00000266071	T;T;T;T;T;T;T;T;T	0.18810	3.0;3.0;2.71;2.71;2.19;2.19;2.19;2.21;2.21	5.71	5.71	0.89125	.	0.000000	0.40728	U	0.001022	T	0.46776	0.1410	L	0.61036	1.89	0.37674	D	0.923234	D;D;D;D	0.89917	1.0;0.997;0.973;0.992	D;P;B;P	0.97110	1.0;0.853;0.437;0.664	T	0.37220	-0.9715	10	0.42905	T	0.14	-35.9759	19.8599	0.96779	0.0:1.0:0.0:0.0	.	85;85;85;85	Q9BTC0-2;Q9BTC0-3;Q9BTC0-1;Q9BTC0	.;.;.;DIDO1_HUMAN	S	85	ENSP00000266070:G85S;ENSP00000378752:G85S;ENSP00000378749:G85S;ENSP00000378744:G85S;ENSP00000359397:G85S;ENSP00000359394:G85S;ENSP00000346692:G85S;ENSP00000359391:G85S;ENSP00000266071:G85S	ENSP00000266070:G85S	G	-	1	0	DIDO1	61013157	0.669000	0.27502	0.714000	0.30535	0.015000	0.08874	1.400000	0.34577	2.710000	0.92621	0.655000	0.94253	GGC		0.701	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796	
COL6A1	1291	broad.mit.edu	37	21	47412280	47412280	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr21:47412280A>T	ENST00000361866.3	+	18	1354	c.1240A>T	c.(1240-1242)Aac>Tac	p.N414Y		NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	414	Triple-helical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)|protein heterotrimerization (GO:0070208)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)	platelet-derived growth factor binding (GO:0048407)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)		ATCCCAGGGGAACCCAGGACC	0.637																																						uc002zhu.1																			0				ovary(1)	1						c.(1240-1242)AAC>TAC		collagen, type VI, alpha 1 precursor	Palifermin(DB00039)						41.0	46.0	44.0					21																	47412280		2200	4299	6499	SO:0001583	missense	1291				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding	g.chr21:47412280A>T	M20776	CCDS13727.1	21q22.3	2014-09-17			ENSG00000142156	ENSG00000142156		"""Collagens"""	2211	protein-coding gene	gene with protein product		120220					Standard	XM_006723964		Approved		uc002zhu.1	P12109	OTTHUMG00000090440	ENST00000361866.3:c.1240A>T	21.37:g.47412280A>T	ENSP00000355180:p.Asn414Tyr						p.N414Y	NM_001848	NP_001839	P12109	CO6A1_HUMAN		Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	18	1342	+	all_hematologic(128;0.24)		414			Triple-helical region.		O00117|O00118|Q14040|Q14041|Q16258|Q7Z645|Q9BSA8	Missense_Mutation	SNP	ENST00000361866.3	37	c.1240A>T	CCDS13727.1	.	.	.	.	.	.	.	.	.	.	A	11.15	1.554153	0.27739	.	.	ENSG00000142156	ENST00000361866;ENST00000538397	D	0.96491	-4.03	4.21	4.21	0.49690	.	0.545499	0.17979	N	0.155593	D	0.92051	0.7481	N	0.08118	0	0.09310	N	1	D	0.61697	0.99	P	0.55161	0.77	D	0.84862	0.0820	10	0.59425	D	0.04	-17.3494	2.9001	0.05702	0.6223:0.0:0.1894:0.1883	.	414	P12109	CO6A1_HUMAN	Y	414	ENSP00000355180:N414Y	ENSP00000355180:N414Y	N	+	1	0	COL6A1	46236708	0.849000	0.29639	0.594000	0.28785	0.708000	0.40852	2.812000	0.47994	1.553000	0.49476	0.383000	0.25322	AAC		0.637	COL6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206877.1	NM_001848	
HIRA	7290	broad.mit.edu	37	22	19318996	19318996	+	Silent	SNP	A	A	G			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr22:19318996A>G	ENST00000263208.5	-	25	3277	c.3021T>C	c.(3019-3021)tgT>tgC	p.C1007C	HIRA_ENST00000541063.1_Silent_p.C963C|HIRA_ENST00000340170.4_Silent_p.C800C	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	1007	Interaction with histone H4.				anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|gastrulation (GO:0007369)|muscle cell differentiation (GO:0042692)|osteoblast differentiation (GO:0001649)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					GCTGTTCCTGACACTCGGTGA	0.617																																						uc002zpf.1																			0				ovary(1)	1						c.(3019-3021)TGT>TGC		HIR histone cell cycle regulation defective							95.0	73.0	80.0					22																	19318996		2203	4300	6503	SO:0001819	synonymous_variant	7290				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr22:19318996A>G	X75296	CCDS13759.1	22q11.2	2013-05-03	2013-05-03		ENSG00000100084	ENSG00000100084		"""WD repeat domain containing"""	4916	protein-coding gene	gene with protein product	"""DiGeorge critical region gene 1"""	600237	"""HIR (histone cell cycle regulation defective) homolog A (S. cerevisiae)"", ""HIR histone cell cycle regulation defective homolog A (S. cerevisiae)"""	TUPLE1		8111380, 7633437, 9731536	Standard	NM_003325		Approved	DGCR1, TUP1	uc002zpf.1	P54198	OTTHUMG00000150134	ENST00000263208.5:c.3021T>C	22.37:g.19318996A>G						HIRA_uc011agx.1_Missense_Mutation_p.S844P|HIRA_uc010grn.1_Silent_p.C800C|HIRA_uc010gro.1_Silent_p.C963C	p.C1007C	NM_003325	NP_003316	P54198	HIRA_HUMAN			25	3241	-	Colorectal(54;0.0993)		1007			Interaction with histone H4.		Q05BU9|Q8IXN2	Silent	SNP	ENST00000263208.5	37	c.3021T>C	CCDS13759.1	.	.	.	.	.	.	.	.	.	.	A	10.67	1.414503	0.25465	.	.	ENSG00000100084	ENST00000539600	.	.	.	4.89	-3.29	0.05017	.	.	.	.	.	T	0.62319	0.2418	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60459	-0.7259	5	0.30854	T	0.27	-9.3467	13.0224	0.58796	0.4965:0.0:0.5035:0.0	.	.	.	.	P	487	.	ENSP00000440634:S487P	S	-	1	0	HIRA	17698996	1.000000	0.71417	0.986000	0.45419	0.997000	0.91878	2.145000	0.42207	-0.586000	0.05898	0.528000	0.53228	TCA		0.617	HIRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316488.2	NM_003325	
VPREB1	7441	broad.mit.edu	37	22	22599423	22599423	+	Missense_Mutation	SNP	C	C	T	rs369071851		TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr22:22599423C>T	ENST00000403807.3	+	2	251	c.112C>T	c.(112-114)Cgc>Tgc	p.R38C	VPREB1_ENST00000302273.2_Missense_Mutation_p.R37C			P12018	VPREB_HUMAN	pre-B lymphocyte 1	38	Framework-1.|Ig-like V-type.									large_intestine(1)|liver(1)|lung(6)|skin(1)	9	all_hematologic(9;0.0312)|Acute lymphoblastic leukemia(84;0.155)	all_cancers(3;3.14e-14)|Acute lymphoblastic leukemia(3;2.97e-57)|all_hematologic(3;5.9e-52)		READ - Rectum adenocarcinoma(21;0.145)		AACCACAATCCGCCTCACCTG	0.632													c|||	1	0.000199681	0.0	0.0	5008	,	,		17642	0.0		0.0	False		,,,				2504	0.001					uc002zvx.1																			0					0						c.(112-114)CGC>TGC		immunoglobulin iota chain precursor		C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	90.0	88.0	89.0		112	0.7	0.0	22		89	0,8600		0,0,4300	no	missense	VPREB1	NM_007128.2	180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	38/146	22599423	1,13005	2203	4300	6503	SO:0001583	missense	7441				immune response	extracellular region	antigen binding|protein binding	g.chr22:22599423C>T	M34927	CCDS13798.1	22q11.2	2014-05-16	2008-09-12		ENSG00000169575	ENSG00000169575		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	12709	protein-coding gene	gene with protein product		605141				3139558	Standard	NM_007128		Approved	VpreB, CD179A	uc002zvx.1	P12018	OTTHUMG00000151042	ENST00000403807.3:c.112C>T	22.37:g.22599423C>T	ENSP00000385361:p.Arg38Cys					LOC96610_uc011aim.1_Intron	p.R38C	NM_007128	NP_009059	P12018	VPREB_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	2	138	+	all_hematologic(9;0.0312)|Acute lymphoblastic leukemia(84;0.155)	all_cancers(3;3.14e-14)|Acute lymphoblastic leukemia(3;2.97e-57)|all_hematologic(3;5.9e-52)	38			Framework-1.|Ig-like V-type.		B5MCG2	Missense_Mutation	SNP	ENST00000403807.3	37	c.112C>T	CCDS13798.1	.	.	.	.	.	.	.	.	.	.	c	14.54	2.565672	0.45694	2.27E-4	0.0	ENSG00000169575	ENST00000403807;ENST00000302273	T;T	0.46819	0.86;0.86	3.61	0.68	0.17980	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	0.473004	0.18193	N	0.148755	T	0.68961	0.3058	M	0.91717	3.235	0.09310	N	0.999992	D	0.76494	0.999	D	0.66084	0.941	T	0.60464	-0.7258	10	0.87932	D	0	.	9.5624	0.39378	0.6461:0.3539:0.0:0.0	.	38	P12018	VPREB_HUMAN	C	38;37	ENSP00000385361:R38C;ENSP00000304590:R37C	ENSP00000304590:R37C	R	+	1	0	VPREB1	20929423	0.005000	0.15991	0.002000	0.10522	0.080000	0.17528	1.117000	0.31234	0.311000	0.23014	-0.194000	0.12790	CGC		0.632	VPREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321101.1		
EOMES	8320	broad.mit.edu	37	3	27761789	27761789	+	Silent	SNP	G	G	A			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr3:27761789G>A	ENST00000295743.4	-	2	1112	c.909C>T	c.(907-909)aaC>aaT	p.N303N	EOMES_ENST00000461503.1_5'UTR|EOMES_ENST00000537516.1_Silent_p.N8N|EOMES_ENST00000449599.1_Silent_p.N303N			O95936	EOMES_HUMAN	eomesodermin	303					brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|CD8-positive, alpha-beta T cell differentiation involved in immune response (GO:0002302)|cell differentiation involved in embryonic placenta development (GO:0060706)|cerebral cortex neuron differentiation (GO:0021895)|cerebral cortex regionalization (GO:0021796)|endoderm formation (GO:0001706)|endodermal cell fate specification (GO:0001714)|interferon-gamma production (GO:0032609)|mesoderm formation (GO:0001707)|mesodermal to mesenchymal transition involved in gastrulation (GO:0060809)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|olfactory bulb development (GO:0021772)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|skeletal muscle cell differentiation (GO:0035914)|stem cell maintenance (GO:0019827)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						GTCCGTTTATGTTGAAGCTCA	0.532																																						uc003cdx.2																			0				ovary(3)|breast(1)	4						c.(907-909)AAC>AAT		eomesodermin							115.0	120.0	118.0					3																	27761789		2203	4300	6503	SO:0001819	synonymous_variant	8320				CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:27761789G>A	BC025363	CCDS2646.1, CCDS63585.1	3p24.1	2011-06-13	2010-06-24		ENSG00000163508	ENSG00000163508		"""T-boxes"""	3372	protein-coding gene	gene with protein product	"""T-box brain2"""	604615	"""eomesodermin (Xenopus laevis) homolog"""			9888994, 9434949	Standard	NM_005442		Approved	TBR2	uc003cdy.4	O95936	OTTHUMG00000130570	ENST00000295743.4:c.909C>T	3.37:g.27761789G>A						EOMES_uc003cdy.3_Silent_p.N303N|EOMES_uc010hfn.2_Silent_p.N303N|EOMES_uc011axc.1_Silent_p.N8N	p.N303N	NM_005442	NP_005433	O95936	EOMES_HUMAN			2	909	-			303			T-box.		B7Z4I2|B7ZA51|G3XAI5|Q8TAZ2|Q9UPM7	Silent	SNP	ENST00000295743.4	37	c.909C>T	CCDS2646.1																																																																																				0.532	EOMES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252995.1	NM_005442	
ZNF197	10168	broad.mit.edu	37	3	44685661	44685661	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr3:44685661C>G	ENST00000396058.1	+	5	3206	c.3039C>G	c.(3037-3039)ttC>ttG	p.F1013L	RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000344387.4_Missense_Mutation_p.F1013L|ZNF197_ENST00000383745.2_Intron|ZNF197_ENST00000383744.4_Intron			O14709	ZN197_HUMAN	zinc finger protein 197	1013					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		TTGAGGAATTCTCTTGGCTAC	0.363																																						uc003cnm.2																			0				ovary(3)|skin(1)	4						c.(3037-3039)TTC>TTG		zinc finger protein 197 isoform 1							45.0	48.0	47.0					3																	44685661		2199	4298	6497	SO:0001583	missense	10168				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:44685661C>G	AF011573	CCDS2717.1, CCDS33743.1	3p21	2013-01-09	2003-10-07		ENSG00000186448	ENSG00000186448		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12988	protein-coding gene	gene with protein product			"""zinc finger protein 166"""	ZNF166		9380504, 8353497	Standard	XM_005264783		Approved	P18, D3S1363E, ZKSCAN9, ZSCAN41	uc003cnm.3	O14709	OTTHUMG00000133089	ENST00000396058.1:c.3039C>G	3.37:g.44685661C>G	ENSP00000379370:p.Phe1013Leu					ZNF197_uc003cnn.2_Intron|ZNF197_uc003cno.2_Intron|ZNF197_uc003cnp.2_Intron	p.F1013L	NM_006991	NP_008922	O14709	ZN197_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)	6	3245	+			1013					B2RAH8|Q86VG0	Missense_Mutation	SNP	ENST00000396058.1	37	c.3039C>G	CCDS2717.1	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.736333	0.00681	.	.	ENSG00000186448	ENST00000344387;ENST00000396058	T;T	0.05447	3.44;3.44	4.27	0.11	0.14611	.	.	.	.	.	T	0.02267	0.0070	N	0.01874	-0.695	0.09310	N	1	B	0.24920	0.114	B	0.25884	0.064	T	0.45011	-0.9290	9	0.39692	T	0.17	.	4.0263	0.09688	0.2612:0.5195:0.1306:0.0888	.	1013	O14709	ZN197_HUMAN	L	1013	ENSP00000345809:F1013L;ENSP00000379370:F1013L	ENSP00000345809:F1013L	F	+	3	2	ZNF197	44660665	0.000000	0.05858	0.700000	0.30305	0.485000	0.33311	-0.195000	0.09546	-0.369000	0.08028	-1.351000	0.01236	TTC		0.363	ZNF197-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256747.4	NM_006991	
ITIH3	3699	broad.mit.edu	37	3	52840313	52840313	+	Silent	SNP	C	C	T	rs201509967		TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr3:52840313C>T	ENST00000449956.2	+	18	1953	c.1947C>T	c.(1945-1947)gaC>gaT	p.D649D	ITIH3_ENST00000416872.2_Intron	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	649					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CACCAGTGGACGGGGATCCCC	0.582																																						uc003dfv.2																			0				ovary(2)|liver(1)	3						c.(1945-1947)GAC>GAT		inter-alpha (globulin) inhibitor H3							47.0	49.0	48.0					3																	52840313		2044	4188	6232	SO:0001819	synonymous_variant	3699				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:52840313C>T		CCDS46845.1	3p21.1	2011-10-26	2011-10-26		ENSG00000162267	ENSG00000162267			6168	protein-coding gene	gene with protein product	"""pre-alpha (globulin) inhibitor, H3 polypeptide"", ""inter-alpha-trypsin inhibitor heavy chain H3"""	146650	"""inter-alpha (globulin) inhibitor, H3 polypeptide"", ""inter-alpha (globulin) inhibitor H3"""			2465147, 10100603	Standard	NM_002217		Approved	H3P	uc003dfv.2	Q06033	OTTHUMG00000158956	ENST00000449956.2:c.1947C>T	3.37:g.52840313C>T						ITIH3_uc011bek.1_Intron	p.D649D	NM_002217	NP_002208	Q06033	ITIH3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)	18	1983	+			649					Q3B7H5|Q53F06|Q6LAM2|Q99085	Silent	SNP	ENST00000449956.2	37	c.1947C>T	CCDS46845.1	.	.	.	.	.	.	.	.	.	.	C	2.576	-0.298471	0.05532	.	.	ENSG00000162267	ENST00000398670;ENST00000536431	.	.	.	5.48	-4.01	0.04045	.	.	.	.	.	T	0.69878	0.3160	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74780	-0.3549	5	0.66056	D	0.02	-26.1627	14.6686	0.68926	0.0:0.5992:0.0:0.4008	.	.	.	.	W	650;638	.	ENSP00000381662:R650W	R	+	1	2	ITIH3	52815353	0.041000	0.20044	0.972000	0.41901	0.326000	0.28443	-1.083000	0.03397	-0.675000	0.05246	-0.415000	0.06103	CGG		0.582	ITIH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352668.2	NM_002217	
EPHA3	2042	broad.mit.edu	37	3	89468496	89468496	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr3:89468496T>A	ENST00000336596.2	+	11	2255	c.2030T>A	c.(2029-2031)tTt>tAt	p.F677Y	EPHA3_ENST00000494014.1_Missense_Mutation_p.F677Y	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	677	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		ATGGGACAGTTTGACCACCCC	0.413										TSP Lung(6;0.00050)																												uc003dqy.2																			0				lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33						c.(2029-2031)TTT>TAT		ephrin receptor EphA3 isoform a precursor							116.0	107.0	110.0					3																	89468496		2203	4300	6503	SO:0001583	missense	2042					extracellular region|integral to plasma membrane	ATP binding	g.chr3:89468496T>A	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.2030T>A	3.37:g.89468496T>A	ENSP00000337451:p.Phe677Tyr	TSP Lung(6;0.00050)				EPHA3_uc010hon.1_RNA	p.F677Y	NM_005233	NP_005224	P29320	EPHA3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	11	2255	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)	677			Cytoplasmic (Potential).|Protein kinase.		Q9H2V3|Q9H2V4	Missense_Mutation	SNP	ENST00000336596.2	37	c.2030T>A	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	T	29.7	5.031398	0.93575	.	.	ENSG00000044524	ENST00000336596;ENST00000494014	T;T	0.62498	0.02;0.02	5.71	5.71	0.89125	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.74951	0.3784	L	0.52823	1.66	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	T	0.74166	-0.3753	9	.	.	.	.	15.979	0.80091	0.0:0.0:0.0:1.0	.	677	P29320	EPHA3_HUMAN	Y	677	ENSP00000337451:F677Y;ENSP00000419190:F677Y	.	F	+	2	0	EPHA3	89551186	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.040000	0.89188	2.182000	0.69389	0.460000	0.39030	TTT		0.413	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233	
ADCY5	111	broad.mit.edu	37	3	123166426	123166426	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr3:123166426G>A	ENST00000462833.1	-	1	2179	c.967C>T	c.(967-969)Cgc>Tgc	p.R323C		NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	323					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		GAGGCGCTGCGTGGCTGCGGC	0.687																																						uc003egh.1																			0				ovary(4)	4						c.(967-969)CGC>TGC		adenylate cyclase 5							23.0	24.0	23.0					3																	123166426		2200	4295	6495	SO:0001583	missense	111				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr3:123166426G>A	U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"""Adenylate cyclases"""	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.967C>T	3.37:g.123166426G>A	ENSP00000419361:p.Arg323Cys						p.R323C	NM_183357	NP_899200	O95622	ADCY5_HUMAN		GBM - Glioblastoma multiforme(114;0.0342)	1	967	-			323					B7Z8A6|Q7RTV7|Q8NFM3	Missense_Mutation	SNP	ENST00000462833.1	37	c.967C>T	CCDS3022.1	.	.	.	.	.	.	.	.	.	.	G	17.92	3.506033	0.64410	.	.	ENSG00000173175	ENST00000462833	T	0.23552	1.9	5.21	5.21	0.72293	.	0.000000	0.64402	D	0.000003	T	0.46092	0.1375	M	0.69823	2.125	0.80722	D	1	D	0.76494	0.999	P	0.59357	0.856	T	0.45249	-0.9274	10	0.62326	D	0.03	.	14.5651	0.68171	0.0:0.0:0.8444:0.1556	.	323	O95622	ADCY5_HUMAN	C	323	ENSP00000419361:R323C	ENSP00000419361:R323C	R	-	1	0	ADCY5	124649116	1.000000	0.71417	1.000000	0.80357	0.754000	0.42855	4.932000	0.63476	2.443000	0.82685	0.561000	0.74099	CGC		0.687	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355889.4	XM_171048	
TRH	7200	broad.mit.edu	37	3	129694827	129694827	+	Silent	SNP	G	G	A			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr3:129694827G>A	ENST00000302649.3	+	2	695	c.168G>A	c.(166-168)cgG>cgA	p.R56R	TRH_ENST00000507066.1_Silent_p.R56R	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN	thyrotropin-releasing hormone	56					adult walking behavior (GO:0007628)|cell-cell signaling (GO:0007267)|eating behavior (GO:0042755)|histamine metabolic process (GO:0001692)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of feeding behavior (GO:2000252)|negative regulation of glutamate secretion (GO:0014050)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of insulin secretion (GO:0032024)|response to cold (GO:0009409)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	thyrotropin-releasing hormone activity (GO:0008437)			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						TCTTCCTCCGGGAAAACATCC	0.672																																					Esophageal Squamous(60;321 1330 17401 41911)	uc003enc.2																			0				ovary(1)	1						c.(166-168)CGG>CGA		thyrotropin-releasing hormone							21.0	25.0	24.0					3																	129694827		2203	4300	6503	SO:0001819	synonymous_variant	7200				cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity	g.chr3:129694827G>A		CCDS3066.1	3q13.3-q21	2013-02-28				ENSG00000170893		"""Endogenous ligands"""	12298	protein-coding gene	gene with protein product	"""prothyroliberin"""	613879				2126343, 1900134	Standard	NM_007117		Approved		uc003enc.4	P20396		ENST00000302649.3:c.168G>A	3.37:g.129694827G>A							p.R56R	NM_007117	NP_009048	P20396	TRH_HUMAN			2	729	+			56					B2R8R1|Q2TB83	Silent	SNP	ENST00000302649.3	37	c.168G>A	CCDS3066.1																																																																																				0.672	TRH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356592.1	NM_007117	
MBNL1	4154	broad.mit.edu	37	3	152018103	152018103	+	Frame_Shift_Del	DEL	A	A	-			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr3:152018103delA	ENST00000463374.1	+	1	632	c.121delA	c.(121-123)aaafs	p.K41fs	MBNL1_ENST00000492948.1_Frame_Shift_Del_p.K41fs|MBNL1_ENST00000485910.1_Frame_Shift_Del_p.K41fs|MBNL1_ENST00000485509.1_Frame_Shift_Del_p.K41fs|MBNL1_ENST00000461436.1_3'UTR|MBNL1_ENST00000282488.7_Frame_Shift_Del_p.K41fs|MBNL1_ENST00000545754.1_Frame_Shift_Del_p.K41fs|MBNL1_ENST00000355460.2_Frame_Shift_Del_p.K41fs|MBNL1_ENST00000324210.5_Frame_Shift_Del_p.K41fs|MBNL1_ENST00000493459.1_Intron|MBNL1_ENST00000357472.3_Frame_Shift_Del_p.K41fs|MBNL1_ENST00000498502.1_Frame_Shift_Del_p.K41fs|MBNL1_ENST00000282486.6_Frame_Shift_Del_p.K41fs|MBNL1_ENST00000324196.5_Frame_Shift_Del_p.K41fs	NM_207293.1	NP_997176.1	Q9NR56	MBNL1_HUMAN	muscleblind-like splicing regulator 1	41					alternative mRNA splicing, via spliceosome (GO:0000380)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|mRNA splice site selection (GO:0006376)|myoblast differentiation (GO:0045445)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|skeletal muscle tissue development (GO:0007519)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			ACATCCTTCGAAAAGCTGCCA	0.403																																						uc003ezm.2																			0				ovary(1)	1						c.(121-123)AAAfs		muscleblind-like 1 isoform c							109.0	108.0	108.0					3																	152018103		2203	4300	6503	SO:0001589	frameshift_variant	4154				embryonic limb morphogenesis|in utero embryonic development|myoblast differentiation|nervous system development	nucleus|stress granule	double-stranded RNA binding|protein binding|zinc ion binding	g.chr3:152018103delA	Y13829	CCDS3163.1, CCDS3164.1, CCDS3165.1, CCDS3166.1, CCDS3167.1, CCDS3168.1, CCDS54656.1	3q25	2013-01-18	2012-02-23	2003-03-14	ENSG00000152601	ENSG00000152601		"""Zinc fingers, CCCH-type domain containing"""	6923	protein-coding gene	gene with protein product		606516	"""muscleblind (Drosophila)-like"", ""muscleblind-like (Drosophila)"""	MBNL			Standard	NM_021038		Approved	KIAA0428, EXP42, EXP40, EXP35, EXP	uc003ezm.3	Q9NR56	OTTHUMG00000159163	ENST00000463374.1:c.121delA	3.37:g.152018103delA	ENSP00000418108:p.Lys41fs					MBNL1_uc003ezh.2_Frame_Shift_Del_p.K41fs|MBNL1_uc003ezi.2_Frame_Shift_Del_p.K41fs|MBNL1_uc003ezj.2_Intron|MBNL1_uc003ezl.2_Frame_Shift_Del_p.K41fs|MBNL1_uc003ezp.2_Frame_Shift_Del_p.K41fs|MBNL1_uc003ezn.2_Frame_Shift_Del_p.K41fs|MBNL1_uc003ezo.2_Frame_Shift_Del_p.K41fs|MBNL1_uc003ezg.1_RNA|MBNL1_uc003ezk.1_RNA	p.K41fs	NM_207293	NP_997176	Q9NR56	MBNL1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		1	910	+			41			C3H1-type 1.		E9PBW7|O43311|O43797|Q86UV8|Q86UV9|Q96P92|Q96RE3	Frame_Shift_Del	DEL	ENST00000463374.1	37	c.121delA	CCDS3165.1																																																																																				0.403	MBNL1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353604.1	NM_021038	
DGKG	1608	broad.mit.edu	37	3	186015248	186015248	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr3:186015248T>G	ENST00000265022.3	-	5	874	c.335A>C	c.(334-336)aAt>aCt	p.N112T	DGKG_ENST00000382164.4_Missense_Mutation_p.N112T|DGKG_ENST00000544847.1_Missense_Mutation_p.N112T|DGKG_ENST00000344484.4_Missense_Mutation_p.N112T	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	112					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|neuron development (GO:0048666)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	TTTGGTGGCATTATCTGCATT	0.458																																						uc003fqa.2																			0				breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						c.(334-336)AAT>ACT		diacylglycerol kinase gamma isoform 1	Phosphatidylserine(DB00144)						133.0	130.0	131.0					3																	186015248		2203	4300	6503	SO:0001583	missense	1608				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	g.chr3:186015248T>G	AF020945	CCDS3274.1, CCDS43181.1, CCDS43182.1	3q27-q28	2013-01-10	2002-08-29		ENSG00000058866	ENSG00000058866	2.7.1.107	"""EF-hand domain containing"""	2853	protein-coding gene	gene with protein product		601854	"""diacylglycerol kinase, gamma (90kD)"""	DAGK3		8034597	Standard	NM_001080744		Approved		uc003fqa.3	P49619	OTTHUMG00000156617	ENST00000265022.3:c.335A>C	3.37:g.186015248T>G	ENSP00000265022:p.Asn112Thr					DGKG_uc003fqb.2_Missense_Mutation_p.N112T|DGKG_uc003fqc.2_Missense_Mutation_p.N112T|DGKG_uc011brx.1_Missense_Mutation_p.N112T	p.N112T	NM_001346	NP_001337	P49619	DGKG_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	5	872	-	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		112					B2RAH4|Q2M1H4|Q5FWG1	Missense_Mutation	SNP	ENST00000265022.3	37	c.335A>C	CCDS3274.1	.	.	.	.	.	.	.	.	.	.	T	1.520	-0.547187	0.04024	.	.	ENSG00000058866	ENST00000265022;ENST00000344484;ENST00000382164;ENST00000544847;ENST00000538691	D;D;D;T	0.83419	-1.54;-1.55;-1.72;-1.4	5.1	2.45	0.29901	.	0.632676	0.15914	N	0.238444	T	0.68924	0.3054	N	0.25647	0.755	0.28382	N	0.919504	B;B;B;B	0.25441	0.007;0.102;0.082;0.126	B;B;B;B	0.28011	0.003;0.079;0.085;0.034	T	0.57545	-0.7793	10	0.30854	T	0.27	.	4.1719	0.10334	0.1774:0.0958:0.0:0.7268	.	112;112;112;112	F5GX27;P49619-2;P49619-3;P49619	.;.;.;DGKG_HUMAN	T	112;112;112;112;115	ENSP00000265022:N112T;ENSP00000339777:N112T;ENSP00000371599:N112T;ENSP00000440507:N112T	ENSP00000265022:N112T	N	-	2	0	DGKG	187497942	0.982000	0.34865	0.969000	0.41365	0.031000	0.12232	1.625000	0.37029	0.994000	0.38892	0.454000	0.30748	AAT		0.458	DGKG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344800.3		
TLR6	10333	broad.mit.edu	37	4	38829222	38829222	+	Missense_Mutation	SNP	G	G	A	rs375362297		TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr4:38829222G>A	ENST00000381950.1	-	1	1938	c.1873C>T	c.(1873-1875)Cgg>Tgg	p.R625W	TLR6_ENST00000436693.2_Missense_Mutation_p.R625W			Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	625					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|defense response to bacterium (GO:0042742)|detection of diacyl bacterial lipopeptide (GO:0042496)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of JUN kinase activity (GO:0043507)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 6 signaling pathway (GO:0034150)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopeptide binding (GO:0071723)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GCCCTGCGCCGAGTCTGGGTC	0.512																																						uc003gtm.2																			0				ovary(2)	2						c.(1873-1875)CGG>TGG		toll-like receptor 6 precursor		G	TRP/ARG	0,4406		0,0,2203	100.0	98.0	98.0		1873	3.3	0.8	4		98	1,8599	1.2+/-3.3	0,1,4299	no	missense	TLR6	NM_006068.4	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	625/797	38829222	1,13005	2203	4300	6503	SO:0001583	missense	10333				activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity	g.chr4:38829222G>A		CCDS3446.1	4p16.1	2009-11-23			ENSG00000174130	ENSG00000174130		"""CD molecules"""	16711	protein-coding gene	gene with protein product		605403				10231569	Standard	NM_006068		Approved	CD286	uc010ifg.2	Q9Y2C9	OTTHUMG00000128579	ENST00000381950.1:c.1873C>T	4.37:g.38829222G>A	ENSP00000371376:p.Arg625Trp					TLR6_uc010ifg.1_Missense_Mutation_p.R625W	p.R625W	NM_006068	NP_006059	Q9Y2C9	TLR6_HUMAN			1	1939	-			625			Cytoplasmic (Potential).		B3Y640|B6CH35|B6RFS4|B6RFS5|Q2NKL3	Missense_Mutation	SNP	ENST00000381950.1	37	c.1873C>T	CCDS3446.1	.	.	.	.	.	.	.	.	.	.	G	1.089	-0.664577	0.03428	0.0	1.16E-4	ENSG00000174130	ENST00000436693;ENST00000381950	T;T	0.10099	2.91;2.91	4.29	3.33	0.38152	.	0.114616	0.40064	N	0.001194	T	0.10208	0.0250	L	0.46614	1.455	0.29641	N	0.844683	B	0.21821	0.061	B	0.18561	0.022	T	0.10823	-1.0613	10	0.26408	T	0.33	.	11.1061	0.48203	0.0:0.0:0.3716:0.6284	.	625	Q9Y2C9	TLR6_HUMAN	W	625	ENSP00000389600:R625W;ENSP00000371376:R625W	ENSP00000371376:R625W	R	-	1	2	TLR6	38505617	1.000000	0.71417	0.829000	0.32907	0.157000	0.22087	4.651000	0.61447	0.800000	0.34041	0.561000	0.74099	CGG		0.512	TLR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250431.1		
UGT2B10	7365	broad.mit.edu	37	4	69696459	69696459	+	Silent	SNP	C	C	G	rs556468185	byFrequency	TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr4:69696459C>G	ENST00000265403.7	+	6	1476	c.1449C>G	c.(1447-1449)acC>acG	p.T483T	UGT2B10_ENST00000458688.2_Silent_p.T399T	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	483					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						ACAACCTCACCTGGTTCCAGT	0.483																																					Melanoma(133;755 1763 25578 26334 46021)	uc003hee.2																			0				skin(3)|ovary(2)	5						c.(1447-1449)ACC>ACG		UDP glucuronosyltransferase 2B10 isoform 1							190.0	179.0	183.0					4																	69696459		2203	4300	6503	SO:0001819	synonymous_variant	7365				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69696459C>G	X63359	CCDS75135.1, CCDS75136.1	4q13.3	2008-02-05	2005-07-20			ENSG00000109181		"""UDP glucuronosyltransferases"""	12544	protein-coding gene	gene with protein product		600070	"""UDP glycosyltransferase 2 family, polypeptide B10"""			8333863	Standard	NM_001075		Approved		uc003hee.3	P36537		ENST00000265403.7:c.1449C>G	4.37:g.69696459C>G						UGT2B10_uc011cam.1_Silent_p.T399T	p.T483T	NM_001075	NP_001066	P36537	UDB10_HUMAN			6	1474	+			483					A8K9M3|B4DPP1|Q14CR8	Silent	SNP	ENST00000265403.7	37	c.1449C>G																																																																																					0.483	UGT2B10-001	KNOWN	non_canonical_polymorphism|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365169.1	NM_001075	
PROL1	58503	broad.mit.edu	37	4	71275346	71275346	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr4:71275346G>T	ENST00000399575.2	+	3	475	c.301G>T	c.(301-303)Ggt>Tgt	p.G101C	PROL1_ENST00000514338.1_3'UTR	NM_021225.4	NP_067048.4	Q99935	PROL1_HUMAN	proline rich, lacrimal 1	101	Pro-rich.				negative regulation of endopeptidase activity (GO:0010951)|regulation of sensory perception of pain (GO:0051930)|retina homeostasis (GO:0001895)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	endopeptidase inhibitor activity (GO:0004866)|peptidase inhibitor activity (GO:0030414)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				ACTCTTTCCGGGTTATCCAAA	0.398																																						uc003hfi.2																			0				large_intestine(1)	1						c.(301-303)GGT>TGT		proline rich, lacrimal 1							208.0	195.0	199.0					4																	71275346		1853	4101	5954	SO:0001583	missense	58503				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity	g.chr4:71275346G>T	S83198	CCDS43235.1	4q13.3	2011-10-28	2005-02-07		ENSG00000171199	ENSG00000171199			17279	protein-coding gene	gene with protein product		608936	"""proline rich 1"""			8670737	Standard	NM_021225		Approved	BPLP, PRL1, opiorphin	uc003hfi.3	Q99935	OTTHUMG00000160845	ENST00000399575.2:c.301G>T	4.37:g.71275346G>T	ENSP00000382485:p.Gly101Cys						p.G101C	NM_021225	NP_067048	Q99935	PROL1_HUMAN			3	475	+		all_hematologic(202;0.196)	101			Pro-rich.		A8MZ07|P85047	Missense_Mutation	SNP	ENST00000399575.2	37	c.301G>T	CCDS43235.1	.	.	.	.	.	.	.	.	.	.	G	3.448	-0.112676	0.06881	.	.	ENSG00000171199	ENST00000399575	T	0.32988	1.43	1.81	-3.62	0.04543	.	3.599270	0.01209	N	0.007786	T	0.24736	0.0600	L	0.39898	1.24	0.09310	N	1	D	0.56521	0.976	B	0.42163	0.378	T	0.35425	-0.9789	10	0.87932	D	0	.	4.1594	0.10277	0.4195:0.3516:0.2289:0.0	.	101	Q99935	PROL1_HUMAN	C	101	ENSP00000382485:G101C	ENSP00000382485:G101C	G	+	1	0	PROL1	71309935	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.382000	0.07408	-1.817000	0.01219	-0.964000	0.02622	GGT		0.398	PROL1-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000362639.1	NM_021225	
AFM	173	broad.mit.edu	37	4	74365895	74365895	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr4:74365895G>A	ENST00000226355.3	+	12	1690	c.1597G>A	c.(1597-1599)Gca>Aca	p.A533T		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	533	Albumin 3. {ECO:0000255|PROSITE- ProRule:PRU00769}.				vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	vitamin E binding (GO:0008431)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TACCTTTCACGCAGACATGTG	0.393																																						uc003hhb.2																			0				ovary(2)|central_nervous_system(1)	3						c.(1597-1599)GCA>ACA		afamin precursor							91.0	88.0	89.0					4																	74365895		2203	4300	6503	SO:0001583	missense	173				vitamin transport		vitamin E binding	g.chr4:74365895G>A	L32140	CCDS3557.1	4q13.3	2008-06-11			ENSG00000079557	ENSG00000079557			316	protein-coding gene	gene with protein product		104145				7517938	Standard	NM_001133		Approved	ALB2, ALBA	uc003hhb.3	P43652	OTTHUMG00000130004	ENST00000226355.3:c.1597G>A	4.37:g.74365895G>A	ENSP00000226355:p.Ala533Thr						p.A533T	NM_001133	NP_001124	P43652	AFAM_HUMAN	Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		12	1628	+	Breast(15;0.00102)		533			Albumin 3.		A8K3E1|Q32MR3|Q4W5C5	Missense_Mutation	SNP	ENST00000226355.3	37	c.1597G>A	CCDS3557.1	.	.	.	.	.	.	.	.	.	.	G	6.174	0.400312	0.11696	.	.	ENSG00000079557	ENST00000226355	T	0.57907	0.37	5.64	-11.3	0.00108	Serum albumin-like (1);Serum albumin, N-terminal (3);	1.778840	0.02968	N	0.144029	T	0.28101	0.0693	L	0.28192	0.835	0.09310	N	1	B	0.14438	0.01	B	0.06405	0.002	T	0.08868	-1.0701	10	0.17369	T	0.5	.	2.9537	0.05869	0.4864:0.1489:0.2146:0.1502	.	533	P43652	AFAM_HUMAN	T	533	ENSP00000226355:A533T	ENSP00000226355:A533T	A	+	1	0	AFM	74584759	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.695000	0.01913	-2.786000	0.00358	-0.819000	0.03115	GCA		0.393	AFM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252275.2		
SDHAP3	728609	broad.mit.edu	37	5	1593386	1593386	+	lincRNA	SNP	A	A	C			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr5:1593386A>C	ENST00000605200.1	+	0	0				SDHAP3_ENST00000436493.2_RNA																							CTGGCCATTCACGTGCCTCAG	0.597																																						uc010itg.1																			0					0						c.(73-75)GTG>GGG		Homo sapiens cDNA clone IMAGE:40127561.																																						728609							g.chr5:1593386A>C																													5.37:g.1593386A>C						SDHAP3_uc011cme.1_RNA	p.V25G							2	151	-									Missense_Mutation	SNP	ENST00000605200.1	37	c.74T>G																																																																																					0.597	CTD-2012J19.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000469651.1		
ADAMTS16	170690	broad.mit.edu	37	5	5146486	5146486	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr5:5146486C>T	ENST00000274181.7	+	3	557	c.419C>T	c.(418-420)cCg>cTg	p.P140L	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.P140L|CTD-2297D10.1_ENST00000514848.1_RNA	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	140					branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.P140L(2)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CAGACTTTACCGCCAGAGGAC	0.522																																						uc003jdl.2																			2	Substitution - Missense(2)		haematopoietic_and_lymphoid_tissue(2)	ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						c.(418-420)CCG>CTG		ADAM metallopeptidase with thrombospondin type 1							118.0	116.0	116.0					5																	5146486		1925	4138	6063	SO:0001583	missense	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5146486C>T	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.419C>T	5.37:g.5146486C>T	ENSP00000274181:p.Pro140Leu					ADAMTS16_uc003jdk.1_Missense_Mutation_p.P140L|ADAMTS16_uc003jdj.1_Missense_Mutation_p.P140L	p.P140L	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN			3	557	+			140					C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	c.419C>T	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	C	0.289	-0.981057	0.02197	.	.	ENSG00000145536	ENST00000274181;ENST00000511368;ENST00000536857	T;T	0.05855	3.38;3.38	5.74	0.763	0.18459	Peptidase M12B, propeptide (1);	0.598308	0.17109	N	0.186700	T	0.05686	0.0149	L	0.37850	1.14	0.09310	N	1	B;B;B	0.18166	0.017;0.007;0.026	B;B;B	0.18263	0.005;0.005;0.021	T	0.32268	-0.9913	10	0.46703	T	0.11	.	8.9412	0.35731	0.0:0.6124:0.2012:0.1864	.	140;140;140	Q8TE57;Q8TE57-2;Q2XQZ0	ATS16_HUMAN;.;.	L	140	ENSP00000274181:P140L;ENSP00000421631:P140L	ENSP00000274181:P140L	P	+	2	0	ADAMTS16	5199486	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	0.985000	0.29578	-0.287000	0.09064	-1.119000	0.02030	CCG		0.522	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056	
RICTOR	253260	broad.mit.edu	37	5	38972038	38972038	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr5:38972038C>T	ENST00000357387.3	-	11	943	c.913G>A	c.(913-915)Gga>Aga	p.G305R	RICTOR_ENST00000296782.5_Missense_Mutation_p.G305R	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2											NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					CCAGAATTTCCAGGTTTACAT	0.299																																						uc003jlp.2																			0				ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1)	10						c.(913-915)GGA>AGA		rapamycin-insensitive companion of mTOR							44.0	47.0	46.0					5																	38972038		2203	4286	6489	SO:0001583	missense	253260				actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding	g.chr5:38972038C>T		CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"""rapamycin-insensitive companion of mTOR"", ""pianissimo"""	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.913G>A	5.37:g.38972038C>T	ENSP00000349959:p.Gly305Arg					RICTOR_uc003jlo.2_Missense_Mutation_p.G305R|RICTOR_uc010ivf.2_Missense_Mutation_p.G20R|RICTOR_uc003jlq.1_Missense_Mutation_p.G289R	p.G305R	NM_152756	NP_689969	Q6R327	RICTR_HUMAN			11	937	-	all_lung(31;0.000396)		305						Missense_Mutation	SNP	ENST00000357387.3	37	c.913G>A	CCDS34148.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.680186	0.88542	.	.	ENSG00000164327	ENST00000357387;ENST00000296782	T;T	0.48522	0.81;0.82	5.25	5.25	0.73442	Armadillo-type fold (1);	0.051138	0.85682	D	0.000000	T	0.60907	0.2305	L	0.47716	1.5	0.80722	D	1	P;P;D	0.57257	0.782;0.675;0.979	B;B;P	0.59546	0.421;0.194;0.859	T	0.64032	-0.6502	10	0.87932	D	0	-14.0036	18.8385	0.92172	0.0:1.0:0.0:0.0	.	305;305;305	E7ETT0;Q6R327;Q6R327-3	.;RICTR_HUMAN;.	R	305	ENSP00000349959:G305R;ENSP00000296782:G305R	ENSP00000296782:G305R	G	-	1	0	RICTOR	39007795	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.378000	0.79679	2.434000	0.82447	0.655000	0.94253	GGA		0.299	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366985.1	NM_152756	
PIK3R1	5295	broad.mit.edu	37	5	67589138	67589138	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr5:67589138G>A	ENST00000521381.1	+	10	1742	c.1126G>A	c.(1126-1128)Gga>Aga	p.G376R	PIK3R1_ENST00000396611.1_Missense_Mutation_p.G376R|PIK3R1_ENST00000523872.1_Missense_Mutation_p.G13R|PIK3R1_ENST00000274335.5_Missense_Mutation_p.G376R|PIK3R1_ENST00000521657.1_Missense_Mutation_p.G376R|PIK3R1_ENST00000320694.8_Missense_Mutation_p.G76R|PIK3R1_ENST00000336483.5_Missense_Mutation_p.G106R	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	376	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.G376R(5)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	CAGGAAAGGGGGAAATAACAA	0.308			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)																												uc003jva.2				Rec	yes		5	5q13.1	5295	Mis|F|O	"""phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"""			"""E, O"""			gliobastoma|ovarian|colorectal		7	Substitution - Missense(5)|Whole gene deletion(1)|Unknown(1)	p.G376R(3)|p.?(1)	central_nervous_system(5)|large_intestine(1)|lung(1)	endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1)	101						c.(1126-1128)GGA>AGA		phosphoinositide-3-kinase, regulatory subunit 1	Isoproterenol(DB01064)						52.0	58.0	56.0					5																	67589138		2189	4295	6484	SO:0001583	missense	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67589138G>A	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"""SH2 domain containing"""	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1126G>A	5.37:g.67589138G>A	ENSP00000428056:p.Gly376Arg	TCGA GBM(4;<1E-08)				PIK3R1_uc003jvb.2_Missense_Mutation_p.G376R|PIK3R1_uc003jvc.2_Missense_Mutation_p.G76R|PIK3R1_uc003jvd.2_Missense_Mutation_p.G106R|PIK3R1_uc003jve.2_Missense_Mutation_p.G55R|PIK3R1_uc011crb.1_Missense_Mutation_p.G46R	p.G376R	NM_181523	NP_852664	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	10	1686	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	376			SH2 1.		B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Missense_Mutation	SNP	ENST00000521381.1	37	c.1126G>A	CCDS3993.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.990536	0.93106	.	.	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335;ENST00000523807;ENST00000320694;ENST00000521409;ENST00000336483;ENST00000519025;ENST00000523872	T;T;T;T;D;T;T;T;T;T	0.96716	-0.18;-0.18;-0.18;-0.18;-4.1;-0.18;-0.18;-0.18;-0.18;-0.18	5.2	5.2	0.72013	SH2 motif (4);	0.000000	0.85682	D	0.000000	D	0.98153	0.9390	M	0.79926	2.475	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;0.999;1.0	D	0.98655	1.0681	10	0.87932	D	0	-27.7511	19.2944	0.94117	0.0:0.0:1.0:0.0	.	46;106;76;376	B7Z2N8;P27986-2;P27986-3;P27986	.;.;.;P85A_HUMAN	R	376;376;376;376;106;76;13;106;49;13	ENSP00000428056:G376R;ENSP00000429277:G376R;ENSP00000379855:G376R;ENSP00000274335:G376R;ENSP00000430126:G106R;ENSP00000323512:G76R;ENSP00000431058:G13R;ENSP00000338554:G106R;ENSP00000429156:G49R;ENSP00000430098:G13R	ENSP00000274335:G376R	G	+	1	0	PIK3R1	67624894	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.601000	0.98297	2.868000	0.98415	0.555000	0.69702	GGA		0.308	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504	
ATP10B	23120	broad.mit.edu	37	5	160047524	160047524	+	Missense_Mutation	SNP	C	C	T	rs371457894		TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr5:160047524C>T	ENST00000327245.5	-	15	3092	c.2246G>A	c.(2245-2247)cGc>cAc	p.R749H	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	749					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTGGGGCAGGCGCACAGTCAC	0.612																																						uc003lym.1																			0				ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(2245-2247)CGC>CAC		ATPase, class V, type 10B							33.0	37.0	35.0					5																	160047524		2100	4218	6318	SO:0001583	missense	23120				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr5:160047524C>T	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.2246G>A	5.37:g.160047524C>T	ENSP00000313600:p.Arg749His					ATP10B_uc010jit.1_Missense_Mutation_p.R66H|ATP10B_uc003lyn.2_Missense_Mutation_p.R307H	p.R749H	NM_025153	NP_079429	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		15	3093	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	749			Cytoplasmic (Potential).		Q9H725	Missense_Mutation	SNP	ENST00000327245.5	37	c.2246G>A	CCDS43394.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.002066	0.74932	.	.	ENSG00000118322	ENST00000327245;ENST00000520108	T;T	0.63255	-0.03;-0.03	5.36	5.36	0.76844	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	T	0.70298	0.3208	L	0.45137	1.4	0.40004	D	0.975207	D;D	0.89917	0.998;1.0	D;D	0.68353	0.928;0.957	T	0.69412	-0.5152	9	.	.	.	.	13.4373	0.61092	0.0:0.9227:0.0:0.0773	.	357;749	Q2YDW8;O94823	.;AT10B_HUMAN	H	749;357	ENSP00000313600:R749H;ENSP00000431081:R357H	.	R	-	2	0	ATP10B	159980102	0.995000	0.38212	1.000000	0.80357	0.994000	0.84299	0.928000	0.28831	2.523000	0.85059	0.655000	0.94253	CGC		0.612	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153	
ALDH5A1	7915	broad.mit.edu	37	6	24502755	24502755	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr6:24502755G>A	ENST00000357578.3	+	2	504	c.359G>A	c.(358-360)aGg>aAg	p.R120K	ALDH5A1_ENST00000546278.1_Missense_Mutation_p.R32K|ALDH5A1_ENST00000348925.2_Missense_Mutation_p.R120K|ALDH5A1_ENST00000491546.1_Intron	NM_001080.3	NP_001071.1	P51649	SSDH_HUMAN	aldehyde dehydrogenase 5 family, member A1	120					acetate metabolic process (GO:0006083)|central nervous system development (GO:0007417)|galactosylceramide metabolic process (GO:0006681)|gamma-aminobutyric acid catabolic process (GO:0009450)|glucose metabolic process (GO:0006006)|glucosylceramide metabolic process (GO:0006678)|glutamate metabolic process (GO:0006536)|glutamine metabolic process (GO:0006541)|glutathione metabolic process (GO:0006749)|glycerophospholipid metabolic process (GO:0006650)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|protein homotetramerization (GO:0051289)|respiratory electron transport chain (GO:0022904)|short-chain fatty acid metabolic process (GO:0046459)|succinate metabolic process (GO:0006105)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	protein homodimerization activity (GO:0042803)|succinate-semialdehyde dehydrogenase (NAD+) activity (GO:0004777)|succinate-semialdehyde dehydrogenase [NAD(P)+] activity (GO:0009013)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20					Chlormerodrin(DB00534)|Succinic acid(DB00139)|Valproic Acid(DB00313)	TTGCAGGAGAGGAGTTCATTA	0.343																																						uc003neg.2																			0					0						c.(358-360)AGG>AAG		aldehyde dehydrogenase 5A1 isoform 2 precursor	Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139)						142.0	130.0	134.0					6																	24502755		2203	4300	6503	SO:0001583	missense	7915				acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process	mitochondrial matrix|soluble fraction	succinate-semialdehyde dehydrogenase activity	g.chr6:24502755G>A	L34820	CCDS4555.1, CCDS4556.1	6p22	2013-06-03	2008-07-31		ENSG00000112294	ENSG00000112294	1.2.1.24	"""Aldehyde dehydrogenases"""	408	protein-coding gene	gene with protein product	"""succinate-semialdehyde dehydrogenase"""	610045				7814412, 9059628	Standard	NM_001080		Approved	SSADH, SSDH	uc003nef.3	P51649	OTTHUMG00000014356	ENST00000357578.3:c.359G>A	6.37:g.24502755G>A	ENSP00000350191:p.Arg120Lys					ALDH5A1_uc003nef.2_Missense_Mutation_p.R120K	p.R120K	NM_001080	NP_001071	P51649	SSDH_HUMAN			2	387	+			120					B2RD26|G5E949|Q546H9|Q8N3W6	Missense_Mutation	SNP	ENST00000357578.3	37	c.359G>A	CCDS4555.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.655983	0.88056	.	.	ENSG00000112294	ENST00000357578;ENST00000546278;ENST00000348925	D;D;D	0.96522	-4.04;-4.04;-4.04	5.35	5.35	0.76521	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.98305	0.9438	M	0.87971	2.92	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.998;0.999	D	0.99305	1.0902	10	0.87932	D	0	-32.9506	18.6623	0.91475	0.0:0.0:1.0:0.0	.	120;120	P51649;G5E949	SSDH_HUMAN;.	K	120;32;120	ENSP00000350191:R120K;ENSP00000438193:R32K;ENSP00000314649:R120K	ENSP00000314649:R120K	R	+	2	0	ALDH5A1	24610734	1.000000	0.71417	1.000000	0.80357	0.678000	0.39670	7.944000	0.87722	2.518000	0.84900	0.305000	0.20034	AGG		0.343	ALDH5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040007.2		
PTCHD4	442213	broad.mit.edu	37	6	47976593	47976593	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr6:47976593C>A	ENST00000339488.4	-	2	717	c.684G>T	c.(682-684)aaG>aaT	p.K228N	PTCHD4_ENST00000543600.1_Missense_Mutation_p.K211N	NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	228						integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)										GGATGCTGGTCTTATGAAAGT	0.522																																						uc011dwm.1																			0				central_nervous_system(1)	1						c.(631-633)AAG>AAT		hypothetical protein LOC442213							72.0	72.0	72.0					6																	47976593		1977	4188	6165	SO:0001583	missense	442213					integral to membrane	hedgehog receptor activity	g.chr6:47976593C>A		CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 138"""	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.684G>T	6.37:g.47976593C>A	ENSP00000341914:p.Lys228Asn					C6orf138_uc011dwn.1_5'UTR|C6orf138_uc003ozf.2_Missense_Mutation_p.K228N	p.K211N	NM_001013732	NP_001013754	Q6ZW05	CF138_HUMAN			2	718	-			228					B0QZ29|B4DRK3|Q5T884	Missense_Mutation	SNP	ENST00000339488.4	37	c.633G>T	CCDS34473.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.81|16.81	3.226085|3.226085	0.58668|0.58668	.|.	.|.	ENSG00000244694|ENSG00000244694	ENST00000398738|ENST00000339488;ENST00000543600	.|D;D	.|0.86030	.|-2.06;-2.06	6.16|6.16	6.16|6.16	0.99307|0.99307	.|.	.|0.243661	.|0.43260	.|D	.|0.000598	D|D	0.82591|0.82591	0.5070|0.5070	L|L	0.50333|0.50333	1.59|1.59	0.54753|0.54753	D|D	0.999981|0.999981	.|B;P	.|0.40578	.|0.006;0.722	.|B;P	.|0.47941	.|0.013;0.562	D|D	0.83427|0.83427	0.0036|0.0036	5|10	.|0.54805	.|T	.|0.06	.|.	13.9788|13.9788	0.64291|0.64291	0.0:0.9314:0.0:0.0686|0.0:0.9314:0.0:0.0686	.|.	.|228;211	.|Q6ZW05;B0QZ29	.|CF138_HUMAN;.	Y|N	228|228;211	.|ENSP00000341914:K228N;ENSP00000439864:K211N	.|ENSP00000341914:K228N	D|K	-|-	1|3	0|2	C6orf138|C6orf138	48084552|48084552	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	4.634000|4.634000	0.61325|0.61325	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	GAC|AAG		0.522	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317987.2	NM_001013732	
RHAG	6005	broad.mit.edu	37	6	49574864	49574864	+	Splice_Site	SNP	T	T	G			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr6:49574864T>G	ENST00000371175.4	-	8	1163	c.1137A>C	c.(1135-1137)acA>acC	p.T379T	RHAG_ENST00000229810.7_Splice_Site_p.R339R	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	379					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|bicarbonate transport (GO:0015701)|carbon dioxide transport (GO:0015670)|cellular ion homeostasis (GO:0006873)|erythrocyte development (GO:0048821)|multicellular organismal iron ion homeostasis (GO:0060586)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					TATGCTGACCTGTCATCAGAC	0.398																																					Ovarian(176;476 2003 7720 43408 44749)	uc003ozk.3																			0				breast(1)|skin(1)	2						c.(1135-1137)ACA>ACC		Rh-associated glycoprotein							76.0	74.0	75.0					6																	49574864		2203	4300	6503	SO:0001630	splice_region_variant	6005				carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding	g.chr6:49574864T>G		CCDS4927.1	6p12.3	2014-07-19	2006-02-23		ENSG00000112077	ENSG00000112077		"""CD molecules"", ""Blood group antigens"", ""Solute carriers"""	10006	protein-coding gene	gene with protein product		180297	"""Rhesus blood group-associated glycoprotein"""			9479501	Standard	NM_000324		Approved	RH50A, CD241, SLC42A1	uc003ozk.4	Q02094	OTTHUMG00000016377	ENST00000371175.4:c.1138+1A>C	6.37:g.49574864T>G						RHAG_uc010jzl.2_Silent_p.T379T|RHAG_uc010jzm.2_Silent_p.R339R	p.T379T	NM_000324	NP_000315	Q02094	RHAG_HUMAN			8	1199	-	Lung NSC(77;0.0255)		379			Helical; (Potential).		B2R8T8|O43514|O43515|Q7L8L3|Q9H454	Silent	SNP	ENST00000371175.4	37	c.1137A>C	CCDS4927.1																																																																																				0.398	RHAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043806.1		Silent
GSTA4	2941	broad.mit.edu	37	6	52850344	52850344	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr6:52850344T>G	ENST00000370959.1	-	4	294	c.177A>C	c.(175-177)gaA>gaC	p.E59D	GSTA4_ENST00000541324.1_5'UTR|GSTA4_ENST00000370960.1_Intron|GSTA4_ENST00000486559.1_5'UTR			O15217	GSTA4_HUMAN	glutathione S-transferase alpha 4	59	GST N-terminal.				glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	glutathione transferase activity (GO:0004364)|protein homodimerization activity (GO:0042803)			endometrium(1)|lung(3)|skin(2)|urinary_tract(1)	7	Lung NSC(77;0.103)				Glutathione(DB00143)	TCCCGTCAATTTCAACCATGG	0.468																																						uc003pbc.2																			0					0						c.(175-177)GAA>GAC		glutathione S-transferase alpha 4	Glutathione(DB00143)						162.0	142.0	149.0					6																	52850344		2203	4300	6503	SO:0001583	missense	2941				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity|protein homodimerization activity	g.chr6:52850344T>G	AF020918	CCDS4948.1	6p12.2	2012-06-21	2008-11-26		ENSG00000170899	ENSG00000170899	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4629	protein-coding gene	gene with protein product		605450	"""glutathione S-transferase A4"""			9480897	Standard	NM_001512		Approved		uc003pbf.3	O15217	OTTHUMG00000014868	ENST00000370959.1:c.177A>C	6.37:g.52850344T>G	ENSP00000359998:p.Glu59Asp					GSTA4_uc003pbd.2_5'UTR|GSTA4_uc003pbe.2_Intron|GSTA4_uc003pbf.2_Missense_Mutation_p.E59D	p.E59D	NM_001512	NP_001503	O15217	GSTA4_HUMAN			3	241	-	Lung NSC(77;0.103)		59			GST N-terminal.		B2RD15|Q5T7Q8|Q6P4G1|Q9BX18|Q9H414	Missense_Mutation	SNP	ENST00000370959.1	37	c.177A>C	CCDS4948.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.057055	0.76074	.	.	ENSG00000170899	ENST00000370963;ENST00000370959	T;T	0.09630	2.96;2.96	5.36	1.73	0.24493	Glutathione S-transferase, N-terminal (2);Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.20333	0.0489	M	0.90977	3.165	0.80722	D	1	P	0.48350	0.909	P	0.59761	0.863	T	0.01378	-1.1370	10	0.87932	D	0	-34.1618	6.5442	0.22397	0.0:0.398:0.0:0.602	.	59	O15217	GSTA4_HUMAN	D	59	ENSP00000360002:E59D;ENSP00000359998:E59D	ENSP00000359998:E59D	E	-	3	2	GSTA4	52958303	0.999000	0.42202	0.998000	0.56505	0.969000	0.65631	0.441000	0.21611	0.437000	0.26423	-0.250000	0.11733	GAA		0.468	GSTA4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040946.1	NM_001512	
AMD1	262	broad.mit.edu	37	6	111210086	111210086	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr6:111210086G>A	ENST00000368885.3	+	3	560	c.224G>A	c.(223-225)aGa>aAa	p.R75K	AMD1_ENST00000451850.2_Intron|AMD1_ENST00000368877.5_Missense_Mutation_p.R46K|AMD1_ENST00000368882.3_Intron|AMD1_ENST00000368876.1_Missense_Mutation_p.R6K	NM_001634.4	NP_001625.2	P17707	DCAM_HUMAN	adenosylmethionine decarboxylase 1	75					cellular nitrogen compound metabolic process (GO:0034641)|polyamine metabolic process (GO:0006595)|S-adenosylmethioninamine biosynthetic process (GO:0006557)|small molecule metabolic process (GO:0044281)|spermidine biosynthetic process (GO:0008295)|spermine biosynthetic process (GO:0006597)	cytosol (GO:0005829)	adenosylmethionine decarboxylase activity (GO:0004014)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	8		all_cancers(87;3.83e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.0522)|Epithelial(106;0.111)|all cancers(137;0.143)	S-Adenosylmethionine(DB00118)	GTCTCCAAGAGACGTTTCATT	0.393																																						uc003puk.1																			0				upper_aerodigestive_tract(1)	1						c.(223-225)AGA>AAA		adenosylmethionine decarboxylase 1 isoform 1	S-Adenosylmethionine(DB00118)						99.0	94.0	96.0					6																	111210086		2203	4300	6503	SO:0001583	missense	262				spermidine biosynthetic process|spermine biosynthetic process	cytosol	adenosylmethionine decarboxylase activity	g.chr6:111210086G>A	M88006	CCDS5086.1, CCDS75504.1, CCDS75505.1	6q21	2014-05-13			ENSG00000123505	ENSG00000123505	4.1.1.50		457	protein-coding gene	gene with protein product		180980	"""S-adenosylmethionine decarboxylase 1"""				Standard	NM_001634		Approved	SAMDC	uc003puk.1	P17707	OTTHUMG00000015369	ENST00000368885.3:c.224G>A	6.37:g.111210086G>A	ENSP00000357880:p.Arg75Lys					AMD1_uc011eay.1_Missense_Mutation_p.R6K|AMD1_uc011eaz.1_Missense_Mutation_p.R46K|AMD1_uc011eba.1_Intron|AMD1_uc003pul.1_Intron	p.R75K	NM_001634	NP_001625	P17707	DCAM_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0522)|Epithelial(106;0.111)|all cancers(137;0.143)	3	546	+		all_cancers(87;3.83e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0209)	75					E1P5F7|Q5VXN4|Q5VXN6|Q9BWK4	Missense_Mutation	SNP	ENST00000368885.3	37	c.224G>A	CCDS5086.1	.	.	.	.	.	.	.	.	.	.	G	34	5.403320	0.96051	.	.	ENSG00000123505	ENST00000368885;ENST00000368877;ENST00000368876	.	.	.	5.54	5.54	0.83059	S-adenosylmethionine decarboxylase, core (2);	0.000000	0.85682	D	0.000000	T	0.79941	0.4533	M	0.86268	2.805	0.80722	D	1	D;P	0.53745	0.962;0.766	D;B	0.64042	0.921;0.395	T	0.77902	-0.2414	9	0.33940	T	0.23	.	19.4888	0.95042	0.0:0.0:1.0:0.0	.	46;75	A6NNH3;P17707	.;DCAM_HUMAN	K	75;46;6	.	ENSP00000357870:R6K	R	+	2	0	AMD1	111316779	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.363000	0.97131	2.607000	0.88179	0.585000	0.79938	AGA		0.393	AMD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041816.1		
CCDC129	223075	broad.mit.edu	37	7	31614192	31614192	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr7:31614192T>C	ENST00000407970.3	+	7	472	c.434T>C	c.(433-435)gTg>gCg	p.V145A	CCDC129_ENST00000482748.1_3'UTR|CCDC129_ENST00000409210.1_Missense_Mutation_p.V53A|CCDC129_ENST00000319386.3_Missense_Mutation_p.V145A|CCDC129_ENST00000451887.2_Missense_Mutation_p.V171A	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	145										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						ATAGATCCAGTGGAGATTCTC	0.443																																						uc003tcj.1																			0					0						c.(433-435)GTG>GCG		coiled-coil domain containing 129							153.0	164.0	160.0					7																	31614192		2203	4300	6503	SO:0001583	missense	223075							g.chr7:31614192T>C	AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.434T>C	7.37:g.31614192T>C	ENSP00000384416:p.Val145Ala					CCDC129_uc011kad.1_Missense_Mutation_p.V155A|CCDC129_uc003tci.1_Missense_Mutation_p.V144A|CCDC129_uc011kae.1_Missense_Mutation_p.V171A|CCDC129_uc003tck.1_Missense_Mutation_p.V53A	p.V145A	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN			7	1427	+			145					A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Missense_Mutation	SNP	ENST00000407970.3	37	c.434T>C	CCDS5435.2	.	.	.	.	.	.	.	.	.	.	T	18.03	3.531669	0.64972	.	.	ENSG00000180347	ENST00000456011;ENST00000319386;ENST00000407970;ENST00000454513;ENST00000451887;ENST00000538406;ENST00000409210	T;T;T;T;T;T	0.54071	0.76;2.07;2.27;0.59;2.25;2.02	5.66	3.13	0.36017	.	0.227330	0.28290	N	0.015892	T	0.63200	0.2491	M	0.69823	2.125	0.27133	N	0.961851	D;D;D;D	0.61697	0.99;0.971;0.971;0.971	P;P;P;P	0.57371	0.819;0.783;0.783;0.654	T	0.57266	-0.7841	9	.	.	.	-1.1507	10.6517	0.45653	0.2556:0.0:0.0:0.7444	.	171;155;145;145	F5H3V5;F5H2J8;Q6ZRS4;Q6ZRS4-2	.;.;CC129_HUMAN;.	A	145;145;145;145;171;155;53	ENSP00000390544:V145A;ENSP00000313062:V145A;ENSP00000384416:V145A;ENSP00000413233:V145A;ENSP00000395835:V171A;ENSP00000387214:V53A	.	V	+	2	0	CCDC129	31580717	1.000000	0.71417	1.000000	0.80357	0.686000	0.39977	3.665000	0.54532	0.960000	0.38005	0.460000	0.39030	GTG		0.443	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300	
NPTX2	4885	broad.mit.edu	37	7	98254242	98254242	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr7:98254242G>A	ENST00000265634.3	+	3	817	c.652G>A	c.(652-654)Gcc>Acc	p.A218T		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	218					synaptic transmission (GO:0007268)	extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			AGGCAATAGCGCCTTTAAGTC	0.582																																						uc003upl.2																			0				central_nervous_system(2)|skin(1)	3						c.(652-654)GCC>ACC		neuronal pentraxin II precursor							229.0	193.0	206.0					7																	98254242		2203	4300	6503	SO:0001583	missense	4885				synaptic transmission	extracellular region	metal ion binding|sugar binding	g.chr7:98254242G>A		CCDS5657.1	7q21.3-q22.1	2008-04-30			ENSG00000106236	ENSG00000106236			7953	protein-coding gene	gene with protein product	"""apexin"""	600750				8530029	Standard	NM_002523		Approved		uc003upl.2	P47972	OTTHUMG00000154369	ENST00000265634.3:c.652G>A	7.37:g.98254242G>A	ENSP00000265634:p.Ala218Thr						p.A218T	NM_002523	NP_002514	P47972	NPTX2_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		3	829	+	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		218					A4D267|Q86XV7|Q96G70	Missense_Mutation	SNP	ENST00000265634.3	37	c.652G>A	CCDS5657.1	.	.	.	.	.	.	.	.	.	.	G	12.20	1.868076	0.32977	.	.	ENSG00000106236	ENST00000265634	T	0.10099	2.91	5.57	5.57	0.84162	.	0.046090	0.85682	D	0.000000	T	0.06096	0.0158	N	0.19112	0.55	0.80722	D	1	B	0.33379	0.41	B	0.18561	0.022	T	0.46105	-0.9215	10	0.19590	T	0.45	-0.0138	11.9332	0.52857	0.0793:0.0:0.9207:0.0	.	218	P47972	NPTX2_HUMAN	T	218	ENSP00000265634:A218T	ENSP00000265634:A218T	A	+	1	0	NPTX2	98092178	1.000000	0.71417	1.000000	0.80357	0.156000	0.22039	5.647000	0.67923	2.619000	0.88677	0.561000	0.74099	GCC		0.582	NPTX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334982.1	NM_002523	
SRRT	51593	broad.mit.edu	37	7	100481735	100481736	+	Frame_Shift_Ins	INS	-	-	G			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr7:100481735_100481736insG	ENST00000347433.4	+	6	790_791	c.632_633insG	c.(631-636)caggagfs	p.E212fs	SRRT_ENST00000388793.4_Frame_Shift_Ins_p.E212fs|SRRT_ENST00000457580.2_Frame_Shift_Ins_p.E212fs|SRRT_ENST00000432932.1_Frame_Shift_Ins_p.E212fs			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	212					cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						AAGCGTCGGCAGGAGGCCCGGG	0.569																																						uc003uwy.2																			0				ovary(2)	2						c.(631-633)CAGfs		arsenate resistance protein 2 isoform a																																				SO:0001589	frameshift_variant	51593				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding	g.chr7:100481735_100481736insG		CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"""arsenite resistance protein"""	614469	"""serrate RNA effector molecule homolog (Arabidopsis)"""			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.634dupG	7.37:g.100481737_100481737dupG	ENSP00000314491:p.Glu212fs					SRRT_uc010lhl.1_Frame_Shift_Ins_p.Q211fs|SRRT_uc003uxa.2_Frame_Shift_Ins_p.Q211fs|SRRT_uc003uwz.2_Frame_Shift_Ins_p.Q211fs	p.Q211fs	NM_015908	NP_056992	Q9BXP5	SRRT_HUMAN			7	900_901	+			211					A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Frame_Shift_Ins	INS	ENST00000347433.4	37	c.632_633insG	CCDS34709.1																																																																																				0.569	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347168.1	NM_015908	
SLC26A4	5172	broad.mit.edu	37	7	107350617	107350617	+	Silent	SNP	A	A	G			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr7:107350617A>G	ENST00000265715.3	+	19	2432	c.2208A>G	c.(2206-2208)caA>caG	p.Q736Q	SLC26A4_ENST00000544569.1_Silent_p.Q323Q|SLC26A4_ENST00000543100.1_Silent_p.Q305Q|SLC26A4_ENST00000541474.1_Silent_p.Q297Q	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	736					chloride transmembrane transport (GO:1902476)|inorganic anion transport (GO:0015698)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|regulation of protein localization (GO:0032880)|sensory perception of sound (GO:0007605)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chloride transmembrane transporter activity (GO:0015108)|iodide transmembrane transporter activity (GO:0015111)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TGAAATCTCAAGAGGGTCAAG	0.363									Pendred syndrome																													uc003vep.2																			0				ovary(3)|central_nervous_system(2)|skin(2)	7						c.(2206-2208)CAA>CAG		pendrin							102.0	95.0	98.0					7																	107350617		2203	4300	6503	SO:0001819	synonymous_variant	5172	Pendred_syndrome	Familial Cancer Database	Goiter-Deafness syndrome	regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity	g.chr7:107350617A>G	AF030880	CCDS5746.1	7q31	2013-07-18	2013-07-18		ENSG00000091137	ENSG00000091137		"""Solute carriers"""	8818	protein-coding gene	gene with protein product	"""pendrin"""	605646	"""solute carrier family 26, member 4"""	DFNB4		9500541, 11087667	Standard	NM_000441		Approved	PDS	uc003vep.3	O43511	OTTHUMG00000154807	ENST00000265715.3:c.2208A>G	7.37:g.107350617A>G						SLC26A4_uc011kmb.1_Silent_p.Q323Q|SLC26A4_uc011kmc.1_Silent_p.Q297Q|SLC26A4_uc011kmd.1_Silent_p.Q305Q	p.Q736Q	NM_000441	NP_000432	O43511	S26A4_HUMAN			19	2432	+			736			Cytoplasmic (Potential).		B7Z266|O43170	Silent	SNP	ENST00000265715.3	37	c.2208A>G	CCDS5746.1																																																																																				0.363	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337148.1	NM_000441	
SHH	6469	broad.mit.edu	37	7	155599026	155599026	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr7:155599026C>T	ENST00000297261.2	-	2	676	c.526G>A	c.(526-528)Gag>Aag	p.E176K	SHH_ENST00000472308.1_5'Flank	NM_000193.2	NP_000184.1	Q15465	SHH_HUMAN	sonic hedgehog	176			Missing (in HPE3). {ECO:0000269|PubMed:15221788, ECO:0000269|PubMed:19603532}.		androgen metabolic process (GO:0008209)|apoptotic signaling pathway (GO:0097190)|artery development (GO:0060840)|axon guidance (GO:0007411)|Bergmann glial cell differentiation (GO:0060020)|blood coagulation (GO:0007596)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|branching morphogenesis of an epithelial tube (GO:0048754)|bud outgrowth involved in lung branching (GO:0060447)|camera-type eye development (GO:0043010)|canonical Wnt signaling pathway (GO:0060070)|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment (GO:0043369)|cell development (GO:0048468)|cell fate specification (GO:0001708)|cell-cell signaling (GO:0007267)|cellular response to lithium ion (GO:0071285)|central nervous system development (GO:0007417)|cerebellar granule cell precursor proliferation (GO:0021930)|determination of left/right asymmetry in lateral mesoderm (GO:0003140)|dorsal/ventral neural tube patterning (GO:0021904)|dorsal/ventral pattern formation (GO:0009953)|ectoderm development (GO:0007398)|embryo development (GO:0009790)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic skeletal system development (GO:0048706)|endocytosis (GO:0006897)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|establishment of cell polarity (GO:0030010)|forebrain development (GO:0030900)|formation of anatomical boundary (GO:0048859)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|hindgut morphogenesis (GO:0007442)|inner ear development (GO:0048839)|intein-mediated protein splicing (GO:0016539)|intermediate filament organization (GO:0045109)|left lung development (GO:0060459)|limb bud formation (GO:0060174)|lung development (GO:0030324)|lung epithelium development (GO:0060428)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|lymphoid progenitor cell differentiation (GO:0002320)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal smoothened signaling pathway involved in prostate gland development (GO:0060783)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|metanephros development (GO:0001656)|midbrain development (GO:0030901)|multicellular structure septum development (GO:0080125)|myoblast differentiation (GO:0045445)|myotube differentiation (GO:0014902)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell migration (GO:0030336)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of kidney smooth muscle cell differentiation (GO:2000357)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of ureter smooth muscle cell differentiation (GO:2000062)|negative thymic T cell selection (GO:0045060)|neural crest cell migration (GO:0001755)|neuroblast proliferation (GO:0007405)|neuron fate commitment (GO:0048663)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|organ formation (GO:0048645)|osteoblast development (GO:0002076)|palate development (GO:0060021)|pancreas development (GO:0031016)|pattern specification process (GO:0007389)|patterning of blood vessels (GO:0001569)|polarity specification of anterior/posterior axis (GO:0009949)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of hh target transcription factor activity (GO:0007228)|positive regulation of immature T cell proliferation in thymus (GO:0033092)|positive regulation of kidney smooth muscle cell differentiation (GO:2000358)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of sclerotome development (GO:0061189)|positive regulation of skeletal muscle cell proliferation (GO:0014858)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of striated muscle cell differentiation (GO:0051155)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureter smooth muscle cell differentiation (GO:2000063)|positive regulation of Wnt signaling pathway (GO:0030177)|positive thymic T cell selection (GO:0045059)|primary prostatic bud elongation (GO:0060516)|prostate epithelial cord elongation (GO:0060523)|prostate gland development (GO:0030850)|protein localization to nucleus (GO:0034504)|regulation of cell proliferation (GO:0042127)|regulation of mesenchymal cell proliferation involved in prostate gland development (GO:0060782)|regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900175)|regulation of odontogenesis (GO:0042481)|regulation of prostatic bud formation (GO:0060685)|regulation of protein localization to nucleus (GO:1900180)|regulation of proteolysis (GO:0030162)|renal system development (GO:0072001)|right lung development (GO:0060458)|salivary gland cavitation (GO:0060662)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|somite development (GO:0061053)|spinal cord dorsal/ventral patterning (GO:0021513)|spinal cord motor neuron differentiation (GO:0021522)|stem cell development (GO:0048864)|striated muscle tissue development (GO:0014706)|T cell differentiation in thymus (GO:0033077)|telencephalon regionalization (GO:0021978)|thalamus development (GO:0021794)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|trachea morphogenesis (GO:0060439)|vasculogenesis (GO:0001570)|ventral midline development (GO:0007418)	cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|laminin-1 binding (GO:0043237)|morphogen activity (GO:0016015)|patched binding (GO:0005113)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			central_nervous_system(3)|kidney(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCCTTGGACTCGTAGTACACC	0.652																																						uc003wmk.1																			0				central_nervous_system(3)|lung(1)	4						c.(526-528)GAG>AAG		sonic hedgehog preproprotein							73.0	67.0	69.0					7																	155599026		2203	4299	6502	SO:0001583	missense	6469				androgen metabolic process|axon guidance|branching involved in ureteric bud morphogenesis|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment|embryonic digit morphogenesis|hindbrain development|intein-mediated protein splicing|lymphoid progenitor cell differentiation|metanephric mesenchymal cell proliferation involved in metanephros development|midbrain development|negative regulation of cell migration|negative regulation of kidney smooth muscle cell differentiation|negative regulation of ureter smooth muscle cell differentiation|negative thymic T cell selection|neural crest cell migration|neuroblast proliferation|patterning of blood vessels|positive regulation of alpha-beta T cell differentiation|positive regulation of immature T cell proliferation in thymus|positive regulation of kidney smooth muscle cell differentiation|positive regulation of mesenchymal cell proliferation involved in ureter development|positive regulation of T cell differentiation in thymus|positive regulation of ureter smooth muscle cell differentiation|positive thymic T cell selection|proteolysis|sclerotome development|stem cell development|thymus development|vasculogenesis|ventral midline development	cell surface|extracellular space|membrane raft|plasma membrane	calcium ion binding|laminin-1 binding|peptidase activity|signal transducer activity|zinc ion binding	g.chr7:155599026C>T		CCDS5942.1	7q36	2010-06-25	2010-06-25		ENSG00000164690	ENSG00000164690			10848	protein-coding gene	gene with protein product		600725	"""sonic hedgehog (Drosophila) homolog"", ""sonic hedgehog homolog (Drosophila)"""	HPE3, HLP3		7590746	Standard	NM_000193		Approved	HHG1, SMMCI, TPT, TPTPS, MCOPCB5	uc003wmk.1	Q15465	OTTHUMG00000151349	ENST00000297261.2:c.526G>A	7.37:g.155599026C>T	ENSP00000297261:p.Glu176Lys					SHH_uc003wmh.1_RNA|SHH_uc003wmi.1_Missense_Mutation_p.E89K|SHH_uc003wmj.1_Missense_Mutation_p.E89K	p.E176K	NM_000193	NP_000184	Q15465	SHH_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	677	-	all_neural(206;0.101)	all_hematologic(28;0.0592)	176		Missing (in HPE3).			A4D247|Q75MC9	Missense_Mutation	SNP	ENST00000297261.2	37	c.526G>A	CCDS5942.1	.	.	.	.	.	.	.	.	.	.	C	34	5.359543	0.95854	.	.	ENSG00000164690	ENST00000297261;ENST00000430104	D;D	0.99409	-5.85;-5.85	3.35	3.35	0.38373	Hedgehog/DD-peptidase (2);Hedgehog, N-terminal signaling domain (1);	0.000000	0.85682	D	0.000000	D	0.99524	0.9830	M	0.88105	2.93	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.968	D;P;P	0.80764	0.994;0.902;0.557	D	0.97900	1.0302	10	0.87932	D	0	.	15.2317	0.73395	0.0:1.0:0.0:0.0	.	176;179;89	Q15465;D9ZGF9;C9JC48	SHH_HUMAN;.;.	K	176;89	ENSP00000297261:E176K;ENSP00000396621:E89K	ENSP00000297261:E176K	E	-	1	0	SHH	155291787	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.403000	0.79983	1.858000	0.53909	0.561000	0.74099	GAG		0.652	SHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322327.1	NM_000193	
SHH	6469	broad.mit.edu	37	7	155599041	155599041	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr7:155599041C>T	ENST00000297261.2	-	2	661	c.511G>A	c.(511-513)Gac>Aac	p.D171N	SHH_ENST00000472308.1_5'Flank	NM_000193.2	NP_000184.1	Q15465	SHH_HUMAN	sonic hedgehog	171			D -> H (in HPE3). {ECO:0000269|PubMed:19603532}.		androgen metabolic process (GO:0008209)|apoptotic signaling pathway (GO:0097190)|artery development (GO:0060840)|axon guidance (GO:0007411)|Bergmann glial cell differentiation (GO:0060020)|blood coagulation (GO:0007596)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|branching morphogenesis of an epithelial tube (GO:0048754)|bud outgrowth involved in lung branching (GO:0060447)|camera-type eye development (GO:0043010)|canonical Wnt signaling pathway (GO:0060070)|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment (GO:0043369)|cell development (GO:0048468)|cell fate specification (GO:0001708)|cell-cell signaling (GO:0007267)|cellular response to lithium ion (GO:0071285)|central nervous system development (GO:0007417)|cerebellar granule cell precursor proliferation (GO:0021930)|determination of left/right asymmetry in lateral mesoderm (GO:0003140)|dorsal/ventral neural tube patterning (GO:0021904)|dorsal/ventral pattern formation (GO:0009953)|ectoderm development (GO:0007398)|embryo development (GO:0009790)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic skeletal system development (GO:0048706)|endocytosis (GO:0006897)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|establishment of cell polarity (GO:0030010)|forebrain development (GO:0030900)|formation of anatomical boundary (GO:0048859)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|hindgut morphogenesis (GO:0007442)|inner ear development (GO:0048839)|intein-mediated protein splicing (GO:0016539)|intermediate filament organization (GO:0045109)|left lung development (GO:0060459)|limb bud formation (GO:0060174)|lung development (GO:0030324)|lung epithelium development (GO:0060428)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|lymphoid progenitor cell differentiation (GO:0002320)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal smoothened signaling pathway involved in prostate gland development (GO:0060783)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|metanephros development (GO:0001656)|midbrain development (GO:0030901)|multicellular structure septum development (GO:0080125)|myoblast differentiation (GO:0045445)|myotube differentiation (GO:0014902)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell migration (GO:0030336)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of kidney smooth muscle cell differentiation (GO:2000357)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of ureter smooth muscle cell differentiation (GO:2000062)|negative thymic T cell selection (GO:0045060)|neural crest cell migration (GO:0001755)|neuroblast proliferation (GO:0007405)|neuron fate commitment (GO:0048663)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|organ formation (GO:0048645)|osteoblast development (GO:0002076)|palate development (GO:0060021)|pancreas development (GO:0031016)|pattern specification process (GO:0007389)|patterning of blood vessels (GO:0001569)|polarity specification of anterior/posterior axis (GO:0009949)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of hh target transcription factor activity (GO:0007228)|positive regulation of immature T cell proliferation in thymus (GO:0033092)|positive regulation of kidney smooth muscle cell differentiation (GO:2000358)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of sclerotome development (GO:0061189)|positive regulation of skeletal muscle cell proliferation (GO:0014858)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of striated muscle cell differentiation (GO:0051155)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureter smooth muscle cell differentiation (GO:2000063)|positive regulation of Wnt signaling pathway (GO:0030177)|positive thymic T cell selection (GO:0045059)|primary prostatic bud elongation (GO:0060516)|prostate epithelial cord elongation (GO:0060523)|prostate gland development (GO:0030850)|protein localization to nucleus (GO:0034504)|regulation of cell proliferation (GO:0042127)|regulation of mesenchymal cell proliferation involved in prostate gland development (GO:0060782)|regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900175)|regulation of odontogenesis (GO:0042481)|regulation of prostatic bud formation (GO:0060685)|regulation of protein localization to nucleus (GO:1900180)|regulation of proteolysis (GO:0030162)|renal system development (GO:0072001)|right lung development (GO:0060458)|salivary gland cavitation (GO:0060662)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|somite development (GO:0061053)|spinal cord dorsal/ventral patterning (GO:0021513)|spinal cord motor neuron differentiation (GO:0021522)|stem cell development (GO:0048864)|striated muscle tissue development (GO:0014706)|T cell differentiation in thymus (GO:0033077)|telencephalon regionalization (GO:0021978)|thalamus development (GO:0021794)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|trachea morphogenesis (GO:0060439)|vasculogenesis (GO:0001570)|ventral midline development (GO:0007418)	cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|laminin-1 binding (GO:0043237)|morphogen activity (GO:0016015)|patched binding (GO:0005113)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			central_nervous_system(3)|kidney(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TACACCCAGTCGAAGCCGGCC	0.652																																						uc003wmk.1																			0				central_nervous_system(3)|lung(1)	4						c.(511-513)GAC>AAC		sonic hedgehog preproprotein							76.0	68.0	71.0					7																	155599041		2203	4300	6503	SO:0001583	missense	6469				androgen metabolic process|axon guidance|branching involved in ureteric bud morphogenesis|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment|embryonic digit morphogenesis|hindbrain development|intein-mediated protein splicing|lymphoid progenitor cell differentiation|metanephric mesenchymal cell proliferation involved in metanephros development|midbrain development|negative regulation of cell migration|negative regulation of kidney smooth muscle cell differentiation|negative regulation of ureter smooth muscle cell differentiation|negative thymic T cell selection|neural crest cell migration|neuroblast proliferation|patterning of blood vessels|positive regulation of alpha-beta T cell differentiation|positive regulation of immature T cell proliferation in thymus|positive regulation of kidney smooth muscle cell differentiation|positive regulation of mesenchymal cell proliferation involved in ureter development|positive regulation of T cell differentiation in thymus|positive regulation of ureter smooth muscle cell differentiation|positive thymic T cell selection|proteolysis|sclerotome development|stem cell development|thymus development|vasculogenesis|ventral midline development	cell surface|extracellular space|membrane raft|plasma membrane	calcium ion binding|laminin-1 binding|peptidase activity|signal transducer activity|zinc ion binding	g.chr7:155599041C>T		CCDS5942.1	7q36	2010-06-25	2010-06-25		ENSG00000164690	ENSG00000164690			10848	protein-coding gene	gene with protein product		600725	"""sonic hedgehog (Drosophila) homolog"", ""sonic hedgehog homolog (Drosophila)"""	HPE3, HLP3		7590746	Standard	NM_000193		Approved	HHG1, SMMCI, TPT, TPTPS, MCOPCB5	uc003wmk.1	Q15465	OTTHUMG00000151349	ENST00000297261.2:c.511G>A	7.37:g.155599041C>T	ENSP00000297261:p.Asp171Asn					SHH_uc003wmh.1_RNA|SHH_uc003wmi.1_Missense_Mutation_p.D84N|SHH_uc003wmj.1_Missense_Mutation_p.D84N	p.D171N	NM_000193	NP_000184	Q15465	SHH_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	662	-	all_neural(206;0.101)	all_hematologic(28;0.0592)	171		D -> H (in HPE3).			A4D247|Q75MC9	Missense_Mutation	SNP	ENST00000297261.2	37	c.511G>A	CCDS5942.1	.	.	.	.	.	.	.	.	.	.	C	33	5.237790	0.95240	.	.	ENSG00000164690	ENST00000297261;ENST00000430104	D;D	0.99656	-6.31;-6.31	3.35	3.35	0.38373	Hedgehog/DD-peptidase (2);Hedgehog, N-terminal signaling domain (1);	0.000000	0.85682	D	0.000000	D	0.99718	0.9891	H	0.95645	3.7	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.986	D	0.97008	0.9734	10	0.87932	D	0	.	15.2317	0.73395	0.0:1.0:0.0:0.0	.	171;174;84	Q15465;D9ZGF9;C9JC48	SHH_HUMAN;.;.	N	171;84	ENSP00000297261:D171N;ENSP00000396621:D84N	ENSP00000297261:D171N	D	-	1	0	SHH	155291802	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.409000	0.80053	1.858000	0.53909	0.561000	0.74099	GAC		0.652	SHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322327.1	NM_000193	
DLC1	10395	broad.mit.edu	37	8	12952442	12952442	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr8:12952442C>T	ENST00000276297.4	-	12	3761	c.3352G>A	c.(3352-3354)Gtc>Atc	p.V1118I	DLC1_ENST00000358919.2_Missense_Mutation_p.V681I|DLC1_ENST00000512044.2_Missense_Mutation_p.V715I|DLC1_ENST00000520226.1_Missense_Mutation_p.V607I|DLC1_ENST00000510318.1_5'UTR	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	1118	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						CGGGACTTGACCCCCGATTTT	0.507																																						uc003wwm.2																			0				ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						c.(3352-3354)GTC>ATC		deleted in liver cancer 1 isoform 1							50.0	49.0	49.0					8																	12952442		2203	4300	6503	SO:0001583	missense	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:12952442C>T	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.3352G>A	8.37:g.12952442C>T	ENSP00000276297:p.Val1118Ile					DLC1_uc003wwk.1_Missense_Mutation_p.V681I|DLC1_uc003wwl.1_Missense_Mutation_p.V715I|DLC1_uc011kxx.1_Missense_Mutation_p.V607I	p.V1118I	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN			12	3796	-			1118			Rho-GAP.		B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	c.3352G>A	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	C	36	5.635526	0.96682	.	.	ENSG00000164741	ENST00000276297;ENST00000358919;ENST00000510318;ENST00000512044;ENST00000520226	T;T;T;T	0.18810	2.19;2.19;2.19;2.19	4.97	4.97	0.65823	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.51007	0.1649	M	0.82517	2.595	0.80722	D	1	P;D;D	0.69078	0.631;0.997;0.958	B;D;P	0.68353	0.427;0.957;0.815	T	0.56866	-0.7908	10	0.87932	D	0	.	18.8143	0.92071	0.0:1.0:0.0:0.0	.	1118;715;681	Q96QB1;E9PDZ8;Q96QB1-1	RHG07_HUMAN;.;.	I	1118;681;57;715;607	ENSP00000276297:V1118I;ENSP00000351797:V681I;ENSP00000422595:V715I;ENSP00000428028:V607I	ENSP00000276297:V1118I	V	-	1	0	DLC1	12996813	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	7.633000	0.83260	2.761000	0.94854	0.650000	0.86243	GTC		0.507	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094	
ELP3	55140	broad.mit.edu	37	8	28017799	28017799	+	Silent	SNP	G	G	A			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr8:28017799G>A	ENST00000256398.8	+	13	1688	c.1311G>A	c.(1309-1311)ttG>ttA	p.L437L	ELP3_ENST00000537665.1_Silent_p.L318L|ELP3_ENST00000542181.1_Silent_p.L308L|ELP3_ENST00000524103.1_Silent_p.L365L|ELP3_ENST00000521015.1_Silent_p.L423L|ELP3_ENST00000380353.4_Silent_p.L345L	NM_001284220.1|NM_001284226.1|NM_018091.5	NP_001271149.1|NP_001271155.1|NP_060561.3	Q9H9T3	ELP3_HUMAN	elongator acetyltransferase complex subunit 3	437	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				chromatin organization (GO:0006325)|positive regulation of cell migration (GO:0030335)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	histone acetyltransferase activity (GO:0004402)|iron-sulfur cluster binding (GO:0051536)|metal ion binding (GO:0046872)|phosphorylase kinase regulator activity (GO:0008607)			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)		AAACATTCTTGTCATACGAAG	0.383																																						uc003xgo.3																			0					0						c.(1309-1311)TTG>TTA		elongation protein 3 homolog							138.0	130.0	133.0					8																	28017799		2203	4300	6503	SO:0001819	synonymous_variant	55140				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding	g.chr8:28017799G>A		CCDS6065.1, CCDS64860.1, CCDS64861.1, CCDS75717.1, CCDS75718.1	8p21.1	2012-08-14	2012-08-08		ENSG00000134014	ENSG00000134014		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Elongator acetyltransferase complex subunits"""	20696	protein-coding gene	gene with protein product		612722	"""elongation protein 3 homolog (S. cerevisiae)"""			11714725	Standard	NM_018091		Approved	FLJ10422, KAT9	uc003xgo.4	Q9H9T3	OTTHUMG00000102124	ENST00000256398.8:c.1311G>A	8.37:g.28017799G>A						ELP3_uc003xgn.3_Silent_p.L422L|ELP3_uc011laq.1_Silent_p.L365L|ELP3_uc011lar.1_Silent_p.L345L|ELP3_uc011las.1_Silent_p.L318L|ELP3_uc011lat.1_Silent_p.L318L	p.L437L	NM_018091	NP_060561	Q9H9T3	ELP3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)	13	1459	+		Ovarian(32;0.0218)	437			N-acetyltransferase.		B4DE19|B4DIG1|E2QRI5|Q53G84|Q6AWB0|Q9BVF7|Q9NVZ1	Silent	SNP	ENST00000256398.8	37	c.1311G>A	CCDS6065.1																																																																																				0.383	ELP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219963.2	NM_018091	
CHD7	55636	broad.mit.edu	37	8	61764695	61764695	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr8:61764695A>T	ENST00000423902.2	+	29	6262	c.5783A>T	c.(5782-5784)cAg>cTg	p.Q1928L	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1928					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			AAAAGGCAACAGATGAGGCAA	0.527																																						uc003xue.2																			0				ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9						c.(5782-5784)CAG>CTG		chromodomain helicase DNA binding protein 7							56.0	56.0	56.0					8																	61764695		1894	4097	5991	SO:0001583	missense	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61764695A>T	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.5783A>T	8.37:g.61764695A>T	ENSP00000392028:p.Gln1928Leu						p.Q1928L	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		29	6260	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	1928					D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	c.5783A>T	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	A	16.77	3.214877	0.58452	.	.	ENSG00000171316	ENST00000307121;ENST00000423902	D	0.90444	-2.67	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	D	0.86867	0.6036	L	0.41027	1.25	0.80722	D	1	B	0.21520	0.057	B	0.20955	0.032	T	0.83212	-0.0073	10	0.37606	T	0.19	-16.4459	15.691	0.77453	1.0:0.0:0.0:0.0	.	1928	Q9P2D1	CHD7_HUMAN	L	1928	ENSP00000392028:Q1928L	ENSP00000307304:Q1928L	Q	+	2	0	CHD7	61927249	1.000000	0.71417	0.944000	0.38274	0.997000	0.91878	7.412000	0.80091	2.172000	0.68678	0.533000	0.62120	CAG		0.527	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762	
SLCO5A1	81796	broad.mit.edu	37	8	70744582	70744582	+	Silent	SNP	G	G	A	rs145247874	byFrequency	TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr8:70744582G>A	ENST00000260126.4	-	2	1033	c.327C>T	c.(325-327)tcC>tcT	p.S109S	SLCO5A1_ENST00000530307.1_Silent_p.S109S|SLCO5A1_ENST00000524945.1_Silent_p.S109S|RP11-159H10.3_ENST00000528800.2_RNA|SLCO5A1_ENST00000528658.1_5'UTR|RP11-159H10.3_ENST00000533300.1_RNA|RP11-159H10.3_ENST00000501104.2_RNA	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	109						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			TGGCCAAGGCGGAGGACACCG	0.622											OREG0018815	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003xyl.2																			0				ovary(3)|upper_aerodigestive_tract(1)	4						c.(325-327)TCC>TCT		solute carrier organic anion transporter family,		G	,,	1,4405	2.1+/-5.4	0,1,2202	112.0	106.0	108.0		327,327,327	3.2	0.8	8	dbSNP_134	108	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	SLCO5A1	NM_001146008.1,NM_001146009.1,NM_030958.2	,,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,,	109/688,109/794,109/849	70744582	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	81796					integral to membrane|plasma membrane	transporter activity	g.chr8:70744582G>A	AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"""Solute carriers"""	19046	protein-coding gene	gene with protein product		613543	"""solute carrier family 21 (organic anion transporter), member 15"""	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.327C>T	8.37:g.70744582G>A			OREG0018815	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1124	SLCO5A1_uc010lzb.2_Silent_p.S109S|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_Silent_p.S109S|SLCO5A1_uc010lzc.2_Silent_p.S109S	p.S109S	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)		2	1034	-	Breast(64;0.0654)		109			Cytoplasmic (Potential).		A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Silent	SNP	ENST00000260126.4	37	c.327C>T	CCDS6205.1																																																																																				0.622	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	NM_030958	
RIMS2	9699	broad.mit.edu	37	8	105160868	105160868	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr8:105160868G>C	ENST00000436393.2	+	23	3421	c.3180G>C	c.(3178-3180)atG>atC	p.M1060I	RIMS2_ENST00000406091.3_Intron|RIMS2_ENST00000507740.1_Intron|RIMS2_ENST00000262231.10_Intron			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	0					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GCAGACAAATGGGCATATCAG	0.433										HNSCC(12;0.0054)																												uc003yls.2																			0				ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15						c.(3178-3180)ATG>ATC		regulating synaptic membrane exocytosis 2							54.0	50.0	51.0					8																	105160868		876	1991	2867	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:105160868G>C	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.3180G>C	8.37:g.105160868G>C	ENSP00000390665:p.Met1060Ile	HNSCC(12;0.0054)				RIMS2_uc003ylp.2_Intron|RIMS2_uc003ylw.2_Missense_Mutation_p.M1049I|RIMS2_uc003ylq.2_Intron|RIMS2_uc003ylr.2_Intron	p.M1060I	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		23	3421	+			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37	c.3180G>C		.	.	.	.	.	.	.	.	.	.	G	13.44	2.236500	0.39498	.	.	ENSG00000176406	ENST00000408894;ENST00000436393	T;T	0.16457	2.34;2.79	5.65	4.76	0.60689	.	.	.	.	.	T	0.13500	0.0327	.	.	.	0.80722	D	1	P	0.39576	0.679	B	0.31812	0.136	T	0.04413	-1.0953	8	0.28530	T	0.3	.	15.9632	0.79948	0.0:0.0:0.864:0.136	.	1060	D6RA03	.	I	1049;1060	ENSP00000386228:M1049I;ENSP00000390665:M1060I	ENSP00000386228:M1049I	M	+	3	0	RIMS2	105230044	1.000000	0.71417	0.998000	0.56505	0.861000	0.49209	9.831000	0.99420	1.368000	0.46115	0.644000	0.83932	ATG		0.433	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117	
SLC24A2	25769	broad.mit.edu	37	9	19786746	19786746	+	Nonsense_Mutation	SNP	A	A	C			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr9:19786746A>C	ENST00000341998.2	-	1	180	c.119T>G	c.(118-120)tTa>tGa	p.L40*	SLC24A2_ENST00000286344.3_Nonsense_Mutation_p.L40*	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	40					cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	cadmium ion binding (GO:0046870)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium, potassium:sodium antiporter activity (GO:0008273)|manganese ion binding (GO:0030145)|nickel cation binding (GO:0016151)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|symporter activity (GO:0015293)			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		GAAAAGGCCTAAGACTCGAAT	0.438																																						uc003zoa.1																			0				ovary(3)	3						c.(118-120)TTA>TGA		solute carrier family 24							127.0	130.0	129.0					9																	19786746		2203	4300	6503	SO:0001587	stop_gained	25769				visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr9:19786746A>C	AF097366	CCDS6493.1, CCDS55297.1	9p22.1	2013-05-22			ENSG00000155886	ENSG00000155886		"""Solute carriers"""	10976	protein-coding gene	gene with protein product		609838				10662833	Standard	NM_020344		Approved	NCKX2	uc003zoa.2	Q9UI40	OTTHUMG00000019646	ENST00000341998.2:c.119T>G	9.37:g.19786746A>C	ENSP00000344801:p.Leu40*					SLC24A2_uc003zob.1_Nonsense_Mutation_p.L40*	p.L40*	NM_020344	NP_065077	Q9UI40	NCKX2_HUMAN		GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)	1	181	-			40					B7ZLL8|Q9NTN5|Q9NZQ4	Nonsense_Mutation	SNP	ENST00000341998.2	37	c.119T>G	CCDS6493.1	.	.	.	.	.	.	.	.	.	.	A	38	6.783617	0.97837	.	.	ENSG00000155886	ENST00000341998;ENST00000286344	.	.	.	5.7	5.7	0.88788	.	0.875096	0.09972	N	0.732168	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9536	0.79861	1.0:0.0:0.0:0.0	.	.	.	.	X	40	.	.	L	-	2	0	SLC24A2	19776746	1.000000	0.71417	0.852000	0.33557	0.996000	0.88848	8.725000	0.91468	2.164000	0.68074	0.533000	0.62120	TTA		0.438	SLC24A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051866.2	NM_020344	
TESK1	7016	broad.mit.edu	37	9	35609460	35609460	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr9:35609460G>A	ENST00000336395.5	+	10	1852	c.1602G>A	c.(1600-1602)tgG>tgA	p.W534*	TESK1_ENST00000498522.1_3'UTR|CD72_ENST00000490239.1_5'Flank|MIR4667_ENST00000578933.1_RNA	NM_006285.2	NP_006276.2	Q15569	TESK1_HUMAN	testis-specific kinase 1	534					cell junction assembly (GO:0034329)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	27			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GGGAGCCCTGGAACCGGGCCC	0.692																																						uc003zxa.2																			0				stomach(2)|breast(2)|lung(1)|ovary(1)|skin(1)	7						c.(1600-1602)TGG>TGA		testis-specific protein kinase 1							18.0	21.0	20.0					9																	35609460		2145	4253	6398	SO:0001587	stop_gained	7016				cell junction assembly|spermatogenesis	cytosol	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr9:35609460G>A	D50863	CCDS6580.1	9p13	2010-04-27			ENSG00000107140	ENSG00000107140	2.7.12.1		11731	protein-coding gene	gene with protein product	"""testis-specific kinase-1"", ""testis specific kinase-1"""	601782				8537404	Standard	NM_006285		Approved		uc003zxa.3	Q15569	OTTHUMG00000019863	ENST00000336395.5:c.1602G>A	9.37:g.35609460G>A	ENSP00000338127:p.Trp534*					TESK1_uc003zwz.1_RNA|TESK1_uc010mks.2_Nonsense_Mutation_p.W374*	p.W534*	NM_006285	NP_006276	Q15569	TESK1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		10	1938	+			534					Q8IXZ8	Nonsense_Mutation	SNP	ENST00000336395.5	37	c.1602G>A	CCDS6580.1	.	.	.	.	.	.	.	.	.	.	G	37	6.125840	0.97305	.	.	ENSG00000107140	ENST00000535770;ENST00000336395	.	.	.	5.24	5.24	0.73138	.	0.000000	0.40640	N	0.001044	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	-9.0973	15.5865	0.76489	0.0:0.0:1.0:0.0	.	.	.	.	X	65;534	.	ENSP00000338127:W534X	W	+	3	0	TESK1	35599460	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.143000	0.71756	2.436000	0.82500	0.563000	0.77884	TGG		0.692	TESK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052314.1	NM_006285	
P2RY4	5030	broad.mit.edu	37	X	69479145	69479145	+	Silent	SNP	G	G	A	rs146718292	byFrequency	TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chrX:69479145G>A	ENST00000374519.2	-	1	509	c.330C>T	c.(328-330)ttC>ttT	p.F110F		NM_002565.3	NP_002556.1	P51582	P2RY4_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 4	110					phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|transepithelial chloride transport (GO:0030321)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|uridine nucleotide receptor activity (GO:0015065)|UTP-activated nucleotide receptor activity (GO:0045030)			cervix(2)|endometrium(2)|large_intestine(8)|lung(6)	18						GAAAGCGGACGAACTTGCAGA	0.542																																						uc004dxz.1																			0				lung(1)	1						c.(328-330)TTC>TTT		pyrimidinergic receptor P2Y4		G		0,3835		0,0,0,1632,571	85.0	70.0	75.0		330	-5.6	0.1	X	dbSNP_134	75	1,6727		0,0,1,2428,1871	no	coding-synonymous	P2RY4	NM_002565.3		0,0,1,4060,2442	AA,AG,A,GG,G		0.0149,0.0,0.0095		110/366	69479145	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	5030				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:69479145G>A	X91852	CCDS14398.1	Xq13	2012-08-08			ENSG00000186912	ENSG00000186912		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8542	protein-coding gene	gene with protein product		300038				8537336	Standard	NM_002565		Approved	NRU, P2Y4, UNR, P2P	uc004dxz.1	P51582	OTTHUMG00000021769	ENST00000374519.2:c.330C>T	X.37:g.69479145G>A							p.F110F	NM_002565	NP_002556	P51582	P2RY4_HUMAN			1	510	-			110			Extracellular (Potential).		Q4VBB7|Q4VBB8|Q502W2|Q5JT22	Silent	SNP	ENST00000374519.2	37	c.330C>T	CCDS14398.1																																																																																				0.542	P2RY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057058.2	NM_002565	
