#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
TNFRSF4	7293	broad.mit.edu	37	1	1149465	1149465	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr1:1149465C>T	ENST00000379236.3	-	1	47	c.43G>A	c.(43-45)Gct>Act	p.A15T	TNFRSF4_ENST00000453580.1_5'Flank	NM_003327.3	NP_003318.1	P43489	TNR4_HUMAN	tumor necrosis factor receptor superfamily, member 4	15					cellular defense response (GO:0006968)|immune response (GO:0006955)|inflammatory response (GO:0006954)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of immunoglobulin secretion (GO:0051024)|regulation of apoptotic process (GO:0042981)|regulation of protein kinase activity (GO:0045859)|T cell proliferation (GO:0042098)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	tumor necrosis factor-activated receptor activity (GO:0005031)			large_intestine(1)|lung(2)|urinary_tract(1)	4	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		AGGAGCAGAGCCGCACACGGC	0.692																																						uc001ade.2																			0					0						c.(43-45)GCT>ACT		tumor necrosis factor receptor superfamily,							13.0	15.0	14.0					1																	1149465		2180	4280	6460	SO:0001583	missense	7293				immune response|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of immunoglobulin secretion|T cell proliferation	integral to plasma membrane	tumor necrosis factor receptor activity	g.chr1:1149465C>T	X75962	CCDS11.1	1p36	2008-02-05			ENSG00000186827	ENSG00000186827		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11918	protein-coding gene	gene with protein product		600315		TXGP1L		7510240, 2828930	Standard	NM_003327		Approved	ACT35, OX40, CD134	uc001ade.3	P43489	OTTHUMG00000001415	ENST00000379236.3:c.43G>A	1.37:g.1149465C>T	ENSP00000368538:p.Ala15Thr					TNFRSF4_uc001adf.2_5'UTR	p.A15T	NM_003327	NP_003318	P43489	TNR4_HUMAN		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	1	48	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	15					Q13663|Q2M312|Q5T7M0	Missense_Mutation	SNP	ENST00000379236.3	37	c.43G>A	CCDS11.1	.	.	.	.	.	.	.	.	.	.	C	15.85	2.954970	0.53293	.	.	ENSG00000186827	ENST00000379236	T	0.61980	0.06	3.49	3.49	0.39957	.	0.241932	0.26231	N	0.025561	T	0.70272	0.3205	L	0.55990	1.75	0.18873	N	0.999989	D	0.89917	1.0	D	0.79108	0.992	T	0.58521	-0.7622	10	0.25751	T	0.34	-36.2822	10.663	0.45712	0.0:1.0:0.0:0.0	.	15	P43489	TNR4_HUMAN	T	15	ENSP00000368538:A15T	ENSP00000368538:A15T	A	-	1	0	TNFRSF4	1139328	0.358000	0.24947	0.217000	0.23759	0.019000	0.09904	1.129000	0.31381	1.972000	0.57404	0.491000	0.48974	GCT		0.692	TNFRSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004086.1		
TAS1R1	80835	broad.mit.edu	37	1	6638981	6638982	+	Frame_Shift_Ins	INS	-	-	T	rs374006227		TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr1:6638981_6638982insT	ENST00000333172.6	+	6	2056_2057	c.1863_1864insT	c.(1864-1866)ttcfs	p.F622fs	TAS1R1_ENST00000351136.3_Frame_Shift_Ins_p.F368fs|TAS1R1_ENST00000328191.4_3'UTR|ZBTB48_ENST00000377674.4_5'Flank	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	622					detection of chemical stimulus involved in sensory perception of taste (GO:0050912)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		GCCTCTATGGCTTCTTTGGGGA	0.599																																						uc001ant.2																			0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1861-1866)GGCTTCfs		sweet taste receptor T1r isoform b																																				SO:0001589	frameshift_variant	80835				sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:6638981_6638982insT		CCDS81.1, CCDS82.1	1p36.23	2012-08-22	2003-03-24		ENSG00000173662	ENSG00000173662		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14448	protein-coding gene	gene with protein product		606225	"""G protein-coupled receptor 70"""	GPR70			Standard	NM_138697		Approved	T1R1, TR1	uc001ant.3	Q7RTX1	OTTHUMG00000001441	ENST00000333172.6:c.1865dupT	1.37:g.6638983_6638983dupT	ENSP00000331867:p.Phe622fs					TAS1R1_uc001anu.2_Frame_Shift_Ins_p.G367fs|TAS1R1_uc001anv.2_Intron|TAS1R1_uc001anw.2_3'UTR|ZBTB48_uc009vmc.1_5'Flank|ZBTB48_uc001anx.2_5'Flank|ZBTB48_uc009vmd.1_5'Flank	p.G621fs	NM_138697	NP_619642	Q7RTX1	TS1R1_HUMAN		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)	6	1863_1864	+	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)	621_622			Helical; Name=2; (Potential).		B2RMX0|Q5SY22|Q5SY24|Q8NGZ7|Q8TDJ7|Q8TDJ8|Q8TDJ9|Q8TDK0	Frame_Shift_Ins	INS	ENST00000333172.6	37	c.1863_1864insT	CCDS81.1																																																																																				0.599	TAS1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004211.1		
SLC25A34	284723	broad.mit.edu	37	1	16065774	16065775	+	Frame_Shift_Ins	INS	-	-	C	rs377316492	byFrequency	TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr1:16065774_16065775insC	ENST00000294454.5	+	5	869_870	c.788_789insC	c.(787-792)ggccccfs	p.GP263fs	RP11-169K16.4_ENST00000418525.1_RNA|SLC25A34_ENST00000489568.1_3'UTR|RP11-288I21.1_ENST00000453804.1_RNA	NM_207348.1	NP_997231.1	Q6PIV7	S2534_HUMAN	solute carrier family 25, member 34	263					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				NS(1)|breast(1)|endometrium(3)|large_intestine(1)|lung(2)|skin(1)	9		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CGGCAGGAGGGCCCCCTGGCAC	0.649																																						uc001axb.1																			0					0						c.(787-789)GGCfs		solute carrier family 25, member 34																																				SO:0001589	frameshift_variant	284723				transport	integral to membrane|mitochondrial inner membrane		g.chr1:16065774_16065775insC	BC027998	CCDS162.1	1p36.13	2013-05-22			ENSG00000162461	ENSG00000162461		"""Solute carriers"""	27653	protein-coding gene	gene with protein product		610817					Standard	NM_207348		Approved	DKFZp781A10161	uc001axb.1	Q6PIV7	OTTHUMG00000003063	ENST00000294454.5:c.793dupC	1.37:g.16065779_16065779dupC	ENSP00000294454:p.Gly263fs					SLC25A34_uc009vok.1_RNA	p.G263fs	NM_207348	NP_997231	Q6PIV7	S2534_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	5	960_961	+		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)	263			Solcar 3.		Q68DV0	Frame_Shift_Ins	INS	ENST00000294454.5	37	c.788_789insC	CCDS162.1																																																																																				0.649	SLC25A34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008467.1	NM_207348	
STPG1	90529	broad.mit.edu	37	1	24710467	24710467	+	Nonsense_Mutation	SNP	G	G	T			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr1:24710467G>T	ENST00000374409.1	-	4	470	c.216C>A	c.(214-216)taC>taA	p.Y72*	STPG1_ENST00000003583.8_Nonsense_Mutation_p.Y25*|STPG1_ENST00000440416.1_Nonsense_Mutation_p.Y25*|STPG1_ENST00000337248.4_Nonsense_Mutation_p.Y72*|STPG1_ENST00000468303.1_5'UTR	NM_001199012.1	NP_001185941.1	Q5TH74	STPG1_HUMAN	sperm-tail PG-rich repeat containing 1	72					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											GAATAACATTGTAGAACCCAG	0.438																																						uc001bjc.2																			0				ovary(1)|breast(1)	2						c.(214-216)TAC>TAA		RecName: Full=UPF0490 protein C1orf201;							176.0	163.0	168.0					1																	24710467		2203	4300	6503	SO:0001587	stop_gained	90529							g.chr1:24710467G>T	BC047705	CCDS253.1, CCDS55581.1	1p36.11	2012-10-31	2012-07-30	2012-07-30	ENSG00000001460	ENSG00000001460			28070	protein-coding gene	gene with protein product	"""O6-methylguanine-induced apoptosis 2"""	615826	"""chromosome 1 open reading frame 201"""	C1orf201		23028632	Standard	NM_001199012		Approved	FLJ33340, MAPO2	uc001bjc.3	Q5TH74	OTTHUMG00000003297	ENST00000374409.1:c.216C>A	1.37:g.24710467G>T	ENSP00000363530:p.Tyr72*					C1orf201_uc001bja.2_Nonsense_Mutation_p.Y25*|C1orf201_uc001bjb.2_5'UTR|C1orf201_uc001bjd.2_Nonsense_Mutation_p.Y72*|C1orf201_uc001bje.1_Nonsense_Mutation_p.Y25*|C1orf201_uc001bjf.2_5'UTR	p.Y72*			Q5TH74	CA201_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.48e-25)|Colorectal(126;7.29e-08)|COAD - Colon adenocarcinoma(152;3.85e-06)|GBM - Glioblastoma multiforme(114;0.000399)|BRCA - Breast invasive adenocarcinoma(304;0.00107)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00393)|READ - Rectum adenocarcinoma(331;0.0672)|Lung(427;0.145)	4	351	-		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.0191)|all_lung(284;0.0251)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.056)	72					Q49AP0|Q6P3R4|Q86VU9|Q8WVQ3	Nonsense_Mutation	SNP	ENST00000374409.1	37	c.216C>A	CCDS55581.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.14|17.14	3.314038|3.314038	0.60414|0.60414	.|.	.|.	ENSG00000001460|ENSG00000001460	ENST00000435187|ENST00000374409;ENST00000440416;ENST00000003583;ENST00000337248;ENST00000437986	.|.	.|.	.|.	6.03|6.03	4.15|4.15	0.48705|0.48705	.|.	.|0.000000	.|0.64402	.|D	.|0.000002	T|.	0.23611|.	0.0571|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.30238|.	-0.9985|.	3|.	.|0.02654	.|T	.|1	-10.0699|-10.0699	9.7008|9.7008	0.40184|0.40184	0.1627:0.0:0.8373:0.0|0.1627:0.0:0.8373:0.0	.|.	.|.	.|.	.|.	K|X	49|72;25;25;72;72	.|.	.|ENSP00000003583:Y25X	T|Y	-|-	2|3	0|2	C1orf201|C1orf201	24583054|24583054	0.972000|0.972000	0.33761|0.33761	0.995000|0.995000	0.50966|0.50966	0.450000|0.450000	0.32258|0.32258	1.241000|1.241000	0.32743|0.32743	1.558000|1.558000	0.49541|0.49541	0.655000|0.655000	0.94253|0.94253	ACA|TAC		0.438	STPG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009172.1	NM_178122	
MACF1	23499	broad.mit.edu	37	1	39799059	39799060	+	Frame_Shift_Ins	INS	-	-	G			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr1:39799059_39799060insG	ENST00000372915.3	+	36	6901_6902	c.6814_6815insG	c.(6814-6816)aggfs	p.R2272fs	MACF1_ENST00000317713.7_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000289893.4_Frame_Shift_Ins_p.R707fs|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000564288.1_Frame_Shift_Ins_p.R2267fs|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Frame_Shift_Ins_p.R2304fs			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2272					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGATAGTGGCAGGGAAATTTTT	0.391																																						uc010oiu.1																			0				ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(2119-2121)AGGfs		microfilament and actin filament cross-linker																																				SO:0001589	frameshift_variant	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39799059_39799060insG	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.6817dupG	1.37:g.39799062_39799062dupG	ENSP00000362006:p.Arg2272fs					MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron	p.R707fs	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		1	2250_2251	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	2272					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Frame_Shift_Ins	INS	ENST00000372915.3	37	c.2119_2120insG																																																																																					0.391	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044	
LEPRE1	64175	broad.mit.edu	37	1	43213879	43213879	+	Silent	SNP	G	G	A			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr1:43213879G>A	ENST00000296388.5	-	12	1881	c.1830C>T	c.(1828-1830)cgC>cgT	p.R610R	LEPRE1_ENST00000397054.3_Silent_p.R610R|LEPRE1_ENST00000236040.4_Silent_p.R610R|LEPRE1_ENST00000462474.1_5'Flank			Q32P28	P3H1_HUMAN	leucine proline-enriched proteoglycan (leprecan) 1	610	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				bone development (GO:0060348)|cell growth (GO:0016049)|chaperone-mediated protein folding (GO:0061077)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|negative regulation of post-translational protein modification (GO:1901874)|peptidyl-proline hydroxylation (GO:0019511)|protein folding (GO:0006457)|protein hydroxylation (GO:0018126)|protein stabilization (GO:0050821)|regulation of ossification (GO:0030278)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|macromolecular complex (GO:0032991)|membrane (GO:0016020)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)|protein complex binding (GO:0032403)			large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	ACCTGTAGTCGCGGAAGGTGT	0.602																																						uc001chv.2																			0				ovary(3)|lung(1)	4						c.(1828-1830)CGC>CGT		leprecan 1 isoform 1	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)						74.0	64.0	67.0					1																	43213879		2203	4300	6503	SO:0001819	synonymous_variant	64175				negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity	g.chr1:43213879G>A	AK027648	CCDS472.2, CCDS53307.1, CCDS57986.1	1p34.1	2014-09-17			ENSG00000117385	ENSG00000117385			19316	protein-coding gene	gene with protein product	"""prolyl 3-hydroxylase 1"", ""growth suppressor 1"""	610339				10951563	Standard	NM_022356		Approved	GROS1, P3H1, LEPRECAN, MGC117314	uc001chx.4	Q32P28	OTTHUMG00000007525	ENST00000296388.5:c.1830C>T	1.37:g.43213879G>A						LEPRE1_uc001chw.2_Silent_p.R610R|LEPRE1_uc001chx.3_Silent_p.R610R	p.R610R	NM_022356	NP_071751	Q32P28	P3H1_HUMAN			12	1943	-	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	610			Fe2OG dioxygenase.		Q7KZR4|Q96BR8|Q96SK8|Q96SL5|Q96SN3|Q9H6K3|Q9HC86|Q9HC87	Silent	SNP	ENST00000296388.5	37	c.1830C>T	CCDS472.2																																																																																				0.602	LEPRE1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000019790.2	NM_022356	
TOE1	114034	broad.mit.edu	37	1	45808763	45808764	+	Frame_Shift_Ins	INS	-	-	G			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr1:45808763_45808764insG	ENST00000372090.5	+	8	1505_1506	c.922_923insG	c.(922-924)tggfs	p.W308fs	MUTYH_ENST00000531105.1_5'Flank|MUTYH_ENST00000372110.3_5'Flank|TOE1_ENST00000495703.1_3'UTR|MUTYH_ENST00000355498.2_5'Flank|TOE1_ENST00000539779.1_Frame_Shift_Ins_p.W228fs|MUTYH_ENST00000372100.5_5'Flank|MUTYH_ENST00000372098.3_5'Flank|MUTYH_ENST00000529984.1_5'Flank|TESK2_ENST00000486676.1_5'Flank|MUTYH_ENST00000372115.3_5'Flank|MUTYH_ENST00000450313.1_5'Flank|MUTYH_ENST00000528332.2_5'Flank	NM_025077.3	NP_079353.3	Q96GM8	TOE1_HUMAN	target of EGR1, member 1 (nuclear)	308						nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	11	Acute lymphoblastic leukemia(166;0.155)					GGCTTATGGCTGGTGCCCCCTG	0.569																																						uc009vxq.2																			0				central_nervous_system(1)	1						c.(922-924)TGGfs		target of EGR1, member 1 (nuclear)																																				SO:0001589	frameshift_variant	114034					nuclear speck|nucleolus	nucleic acid binding|zinc ion binding	g.chr1:45808763_45808764insG		CCDS521.1	1p33	2011-02-03			ENSG00000132773	ENSG00000132773			15954	protein-coding gene	gene with protein product		613931				12562764	Standard	NM_025077		Approved		uc009vxq.3	Q96GM8	OTTHUMG00000007678	ENST00000372090.5:c.924dupG	1.37:g.45808765_45808765dupG	ENSP00000361162:p.Trp308fs					MUTYH_uc001cnj.2_5'Flank|MUTYH_uc001cni.2_5'Flank|MUTYH_uc001cnh.2_5'Flank|MUTYH_uc001cno.2_5'Flank|MUTYH_uc001cnk.2_5'Flank|MUTYH_uc010oll.1_5'Flank|MUTYH_uc001cnm.2_5'Flank|MUTYH_uc001cnl.2_5'Flank|MUTYH_uc009vxp.2_5'Flank|MUTYH_uc001cnn.2_5'Flank|TOE1_uc001cnq.3_RNA|TOE1_uc010olm.1_Frame_Shift_Ins_p.W228fs|TOE1_uc001cnr.3_RNA	p.W308fs	NM_025077	NP_079353	Q96GM8	TOE1_HUMAN			8	1505_1506	+	Acute lymphoblastic leukemia(166;0.155)		308			C3H1-type.		B4DEM6|Q6IA35|Q8IWN5|Q9H846	Frame_Shift_Ins	INS	ENST00000372090.5	37	c.922_923insG	CCDS521.1																																																																																				0.569	TOE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020517.1	NM_025077	
GIPC2	54810	broad.mit.edu	37	1	78560730	78560730	+	Missense_Mutation	SNP	G	G	A	rs143579527		TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr1:78560730G>A	ENST00000370759.3	+	3	714	c.521G>A	c.(520-522)cGt>cAt	p.R174H	RNA5SP22_ENST00000365393.1_RNA	NM_017655.4	NP_060125.4	Q8TF65	GIPC2_HUMAN	GIPC PDZ domain containing family, member 2	174	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)	20						GTTGGGTGGCGTCACTATGAT	0.348																																						uc001dik.2																			0				ovary(1)	1						c.(520-522)CGT>CAT		PDZ domain protein GIPC2		G	HIS/ARG	0,4406		0,0,2203	140.0	149.0	146.0		521	5.2	1.0	1	dbSNP_134	146	1,8599		0,1,4299	no	missense	GIPC2	NM_017655.4	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	174/316	78560730	1,13005	2203	4300	6503	SO:0001583	missense	54810					cytoplasm		g.chr1:78560730G>A	AB073737	CCDS685.1	1p31.1	2010-05-28			ENSG00000137960	ENSG00000137960			18177	protein-coding gene	gene with protein product	"""semaphorin cytoplasmic domain associated protein 2"""					11836570	Standard	NM_017655		Approved	FLJ20075, SEMCAP-2	uc001dik.3	Q8TF65	OTTHUMG00000041145	ENST00000370759.3:c.521G>A	1.37:g.78560730G>A	ENSP00000359795:p.Arg174His						p.R174H	NM_017655	NP_060125	Q8TF65	GIPC2_HUMAN			3	711	+			174			PDZ.		Q8IYD3|Q9NXS7	Missense_Mutation	SNP	ENST00000370759.3	37	c.521G>A	CCDS685.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.918620	0.92249	0.0	1.16E-4	ENSG00000137960	ENST00000370759	T	0.39592	1.07	5.24	5.24	0.73138	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.69993	0.3173	M	0.93016	3.37	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78016	-0.2369	10	0.87932	D	0	-4.4273	18.7788	0.91924	0.0:0.0:1.0:0.0	.	174	Q8TF65	GIPC2_HUMAN	H	174	ENSP00000359795:R174H	ENSP00000359795:R174H	R	+	2	0	GIPC2	78333318	1.000000	0.71417	1.000000	0.80357	0.785000	0.44390	7.071000	0.76770	2.615000	0.88500	0.561000	0.74099	CGT		0.348	GIPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098629.1	NM_017655	
SYCP1	6847	broad.mit.edu	37	1	115537600	115537601	+	Frame_Shift_Ins	INS	-	-	A			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr1:115537600_115537601insA	ENST00000369522.3	+	32	3131_3132	c.2891_2892insA	c.(2890-2895)agaaaafs	p.RK964fs	SYCP1_ENST00000369518.1_Frame_Shift_Ins_p.RK964fs|SYCP1_ENST00000477590.1_3'UTR	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	964	Arg/Lys-rich (basic).				chiasma assembly (GO:0051026)|lateral element assembly (GO:0051878)|meiotic DNA repair synthesis (GO:0000711)|reciprocal meiotic recombination (GO:0007131)|regulation of protein localization (GO:0032880)|sperm chromatin condensation (GO:0035092)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)|male germ cell nucleus (GO:0001673)|transverse filament (GO:0000802)	DNA binding (GO:0003677)		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAAATGGATAGAAAAAAAAAAC	0.356																																						uc001efr.2																			0				skin(1)	1						c.(2890-2892)AGAfs		synaptonemal complex protein 1																																				SO:0001589	frameshift_variant	6847				cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding	g.chr1:115537600_115537601insA	D67035	CCDS879.1, CCDS72840.1	1p13-p12	2009-03-12			ENSG00000198765	ENSG00000198765			11487	protein-coding gene	gene with protein product	"""cancer/testis antigen 8"""	602162				9560255	Standard	XM_005271154		Approved	HOM-TES-14, SCP1, CT8	uc001efr.3	Q15431	OTTHUMG00000012057	ENST00000369522.3:c.2901dupA	1.37:g.115537610_115537610dupA	ENSP00000358535:p.Arg964fs					SYCP1_uc010owt.1_RNA|SYCP1_uc001efq.2_Frame_Shift_Ins_p.R964fs|SYCP1_uc009wgw.2_Frame_Shift_Ins_p.R939fs	p.R964fs	NM_003176	NP_003167	Q15431	SYCP1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	32	3100_3101	+	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)	964			Arg/Lys-rich (basic).		O14963|Q5VXJ6	Frame_Shift_Ins	INS	ENST00000369522.3	37	c.2891_2892insA	CCDS879.1																																																																																				0.356	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033386.1	NM_003176	
POLR3C	10623	broad.mit.edu	37	1	145594170	145594170	+	Silent	SNP	A	A	T			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr1:145594170A>T	ENST00000334163.3	-	14	1552	c.1392T>A	c.(1390-1392)tcT>tcA	p.S464S	POLR3C_ENST00000369294.1_Intron	NM_006468.6	NP_006459.3	Q9BUI4	RPC3_HUMAN	polymerase (RNA) III (DNA directed) polypeptide C (62kD)	464					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Epithelial(2;7.55e-13)			CTACCCTCTGAGATTTTTCTA	0.478																																						uc001eoh.2																			0				ovary(1)	1						c.(1390-1392)TCT>TCA		polymerase (RNA) III (DNA directed) polypeptide							115.0	110.0	112.0					1																	145594170		2203	4300	6503	SO:0001819	synonymous_variant	10623				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity	g.chr1:145594170A>T	AJ238234	CCDS72864.1	1q21	2013-01-21			ENSG00000186141	ENSG00000186141		"""RNA polymerase subunits"""	30076	protein-coding gene	gene with protein product						9171375, 12391170	Standard	NM_006468		Approved	RPC62, RPC3	uc001eoh.3	Q9BUI4	OTTHUMG00000013753	ENST00000334163.3:c.1392T>A	1.37:g.145594170A>T						NBPF10_uc001emp.3_Intron|POLR3C_uc001eog.2_Silent_p.S477S|POLR3C_uc001eoi.2_RNA|POLR3C_uc009wix.2_Intron	p.S464S	NM_006468	NP_006459	Q9BUI4	RPC3_HUMAN	Epithelial(2;7.55e-13)		14	1553	-	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		464					O15317|Q9Y3R6	Silent	SNP	ENST00000334163.3	37	c.1392T>A	CCDS921.1																																																																																				0.478	POLR3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038542.1	NM_006468	
VPS72	6944	broad.mit.edu	37	1	151162515	151162515	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr1:151162515T>C	ENST00000354473.4	-	1	119	c.83A>G	c.(82-84)gAg>gGg	p.E28G	VPS72_ENST00000496809.1_Intron			Q15906	VPS72_HUMAN	vacuolar protein sorting 72 homolog (S. cerevisiae)	28	Asp/Glu-rich (acidic).				chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTGGTAGAACTCATCTTCCTC	0.612																																					Pancreas(109;1131 2287 3209 24201)	uc001exe.1																			0				breast(1)|pancreas(1)	2						c.(82-84)GAG>GGG		transcription factor-like 1							106.0	117.0	113.0					1																	151162515		2203	4300	6503	SO:0001583	missense	6944				chromatin modification|negative regulation of transcription from RNA polymerase II promoter	nucleus|protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:151162515T>C	D43642	CCDS989.1, CCDS59201.1	1q21	2008-02-05	2006-12-19	2005-09-08	ENSG00000163159	ENSG00000163159			11644	protein-coding gene	gene with protein product		600607	"""transcription factor-like 1"", ""vacuolar protein sorting 72 (yeast)"""	TCFL1		7702631	Standard	NM_001271087		Approved	YL-1, YL1, Swc2	uc001exe.2	Q15906	OTTHUMG00000012345	ENST00000354473.4:c.83A>G	1.37:g.151162515T>C	ENSP00000346464:p.Glu28Gly					VPS72_uc001exf.1_Missense_Mutation_p.E28G	p.E28G	NM_005997	NP_005988	Q15906	VPS72_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		1	126	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		28			Asp/Glu-rich (acidic).		A6NLK9|A6PW55|Q53GJ2|Q5U0R4	Missense_Mutation	SNP	ENST00000354473.4	37	c.83A>G	CCDS59201.1	.	.	.	.	.	.	.	.	.	.	T	27.9	4.868675	0.91587	.	.	ENSG00000163159	ENST00000368892;ENST00000354473	.	.	.	5.3	4.17	0.49024	.	0.099748	0.64402	D	0.000002	T	0.74427	0.3715	M	0.88377	2.95	0.54753	D	0.999987	D	0.89917	1.0	D	0.75020	0.985	T	0.79112	-0.1937	9	0.66056	D	0.02	-6.2879	10.5981	0.45349	0.0:0.076:0.0:0.924	.	28	Q15906	VPS72_HUMAN	G	28	.	ENSP00000346464:E28G	E	-	2	0	VPS72	149429139	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	6.644000	0.74338	1.034000	0.39945	0.460000	0.39030	GAG		0.612	VPS72-002	NOVEL	mRNA_start_NF|basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000034394.3	NM_005997	
LRRC52	440699	broad.mit.edu	37	1	165532851	165532851	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr1:165532851C>A	ENST00000294818.1	+	2	1022	c.732C>A	c.(730-732)gaC>gaA	p.D244E	RP11-280O1.2_ENST00000416424.1_RNA|RP11-280O1.2_ENST00000421273.1_RNA|RP11-280O1.2_ENST00000438275.1_RNA	NM_001005214.3	NP_001005214.2	Q8N7C0	LRC52_HUMAN	leucine rich repeat containing 52	244					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)	18	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					ACCACAAAGACTACATCTTCC	0.602																																						uc001gde.2																			0				ovary(1)	1						c.(730-732)GAC>GAA		leucine rich repeat containing 52 precursor							79.0	61.0	67.0					1																	165532851		2203	4300	6503	SO:0001583	missense	440699					integral to membrane		g.chr1:165532851C>A	AK098677	CCDS30930.1	1q23.3	2008-02-05			ENSG00000162763	ENSG00000162763			32156	protein-coding gene	gene with protein product		615218					Standard	NM_001005214		Approved	FLJ25811	uc001gde.2	Q8N7C0	OTTHUMG00000034625	ENST00000294818.1:c.732C>A	1.37:g.165532851C>A	ENSP00000294818:p.Asp244Glu					LOC400794_uc001gdc.2_Intron|LOC400794_uc001gdd.2_Intron|LOC400794_uc009wvd.2_Intron	p.D244E	NM_001005214	NP_001005214	Q8N7C0	LRC52_HUMAN			2	788	+	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)		244			Extracellular (Potential).		A2RUN7|Q5T9K5	Missense_Mutation	SNP	ENST00000294818.1	37	c.732C>A	CCDS30930.1	.	.	.	.	.	.	.	.	.	.	C	14.74	2.625133	0.46840	.	.	ENSG00000162763	ENST00000294818	T	0.65178	-0.14	4.22	3.3	0.37823	.	0.000000	0.85682	D	0.000000	T	0.64757	0.2627	M	0.74258	2.255	0.27959	N	0.936846	D	0.71674	0.998	D	0.64410	0.925	T	0.69057	-0.5246	9	0.66056	D	0.02	.	8.1478	0.31121	0.0:0.8845:0.0:0.1155	.	244	Q8N7C0	LRC52_HUMAN	E	244	ENSP00000294818:D244E	ENSP00000294818:D244E	D	+	3	2	LRRC52	163799475	1.000000	0.71417	0.983000	0.44433	0.073000	0.16967	3.548000	0.53670	0.878000	0.35920	0.655000	0.94253	GAC		0.602	LRRC52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083793.1	NM_001005214	
SELE	6401	broad.mit.edu	37	1	169698757	169698757	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr1:169698757T>C	ENST00000333360.7	-	6	912	c.773A>G	c.(772-774)aAc>aGc	p.N258S	SELE_ENST00000367777.1_Missense_Mutation_p.N258S|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367774.1_Missense_Mutation_p.N258S|SELE_ENST00000367780.4_Missense_Mutation_p.N196S|SELE_ENST00000367776.1_Missense_Mutation_p.N258S|SELE_ENST00000367775.1_Missense_Mutation_p.N196S|SELE_ENST00000367782.4_Missense_Mutation_p.N258S|SELE_ENST00000367779.4_Missense_Mutation_p.N258S|SELE_ENST00000367781.4_Missense_Mutation_p.N258S	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	258	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				actin filament-based process (GO:0030029)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of receptor internalization (GO:0002092)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)	caveola (GO:0005901)|coated pit (GO:0005905)|cortical cytoskeleton (GO:0030863)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	oligosaccharide binding (GO:0070492)|phospholipase binding (GO:0043274)|sialic acid binding (GO:0033691)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)				Carvedilol(DB01136)	GCTTCCAGGGTTTTGGAAACA	0.438																																						uc001ggm.3																			0				ovary(3)|skin(2)	5						c.(772-774)AAC>AGC		selectin E precursor							128.0	122.0	124.0					1																	169698757		2203	4300	6503	SO:0001583	missense	6401				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity	g.chr1:169698757T>C	M30640	CCDS1283.1	1q22-q25	2008-07-31	2008-07-31		ENSG00000007908	ENSG00000007908		"""CD molecules"""	10718	protein-coding gene	gene with protein product		131210	"""endothelial adhesion molecule 1"""	ELAM1, ELAM		1375831	Standard	NM_000450		Approved	ESEL, CD62E	uc001ggm.4	P16581	OTTHUMG00000034851	ENST00000333360.7:c.773A>G	1.37:g.169698757T>C	ENSP00000331736:p.Asn258Ser					C1orf112_uc001ggj.2_Intron	p.N258S	NM_000450	NP_000441	P16581	LYAM2_HUMAN			6	930	-	all_hematologic(923;0.208)		258			Sushi 2.|Extracellular (Potential).		A2RRD6|P16111	Missense_Mutation	SNP	ENST00000333360.7	37	c.773A>G	CCDS1283.1	.	.	.	.	.	.	.	.	.	.	T	0.505	-0.869238	0.02570	.	.	ENSG00000007908	ENST00000367781;ENST00000367782;ENST00000367780;ENST00000367779;ENST00000333360;ENST00000367777;ENST00000367775;ENST00000367776;ENST00000367774	T;T;T;T;T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82	5.71	-2.8	0.05823	Complement control module (2);Sushi/SCR/CCP (3);	0.508579	0.17288	N	0.179770	T	0.03651	0.0104	N	0.02247	-0.625	0.09310	N	1	B	0.06786	0.001	B	0.15870	0.014	T	0.35076	-0.9803	10	0.06757	T	0.87	-2.8656	2.3735	0.04336	0.1271:0.2814:0.1246:0.4669	.	258	P16581	LYAM2_HUMAN	S	258;258;196;258;258;258;196;258;258	ENSP00000356755:N258S;ENSP00000356756:N258S;ENSP00000356754:N196S;ENSP00000356753:N258S;ENSP00000331736:N258S;ENSP00000356751:N258S;ENSP00000356749:N196S;ENSP00000356750:N258S;ENSP00000356748:N258S	ENSP00000331736:N258S	N	-	2	0	SELE	167965381	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.949000	0.03893	-0.145000	0.11294	-0.182000	0.12963	AAC		0.438	SELE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084333.1	NM_000450	
KIAA1217	56243	broad.mit.edu	37	10	24790356	24790356	+	Missense_Mutation	SNP	C	C	T	rs141937477		TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr10:24790356C>T	ENST00000376454.3	+	9	1913	c.1883C>T	c.(1882-1884)aCg>aTg	p.T628M	KIAA1217_ENST00000307544.6_Missense_Mutation_p.T311M|KIAA1217_ENST00000376462.1_Missense_Mutation_p.T548M|KIAA1217_ENST00000396445.1_Missense_Mutation_p.T311M|KIAA1217_ENST00000430453.2_Missense_Mutation_p.T514M|KIAA1217_ENST00000376452.3_Missense_Mutation_p.T593M|KIAA1217_ENST00000376451.2_Missense_Mutation_p.T311M|KIAA1217_ENST00000458595.1_Missense_Mutation_p.T593M|KIAA1217_ENST00000396446.1_Missense_Mutation_p.T311M	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	628					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CTGGAGTCCACGGTGCCTCCC	0.582																																						uc001iru.3																			0				ovary(5)|skin(2)	7						c.(1882-1884)ACG>ATG		sickle tail isoform 1		C	MET/THR,MET/THR,MET/THR	1,4405	2.1+/-5.4	0,1,2202	76.0	62.0	67.0		1643,1778,1883	2.9	0.0	10	dbSNP_134	67	0,8600		0,0,4300	no	missense,missense,missense	KIAA1217	NM_001098500.1,NM_001098501.1,NM_019590.3	81,81,81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	548/1265,593/1310,628/1944	24790356	1,13005	2203	4300	6503	SO:0001583	missense	56243				embryonic skeletal system development	cytoplasm		g.chr10:24790356C>T	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.1883C>T	10.37:g.24790356C>T	ENSP00000365637:p.Thr628Met					KIAA1217_uc001irs.2_Missense_Mutation_p.T548M|KIAA1217_uc001irt.3_Missense_Mutation_p.T593M|KIAA1217_uc010qcy.1_Missense_Mutation_p.T593M|KIAA1217_uc010qcz.1_Missense_Mutation_p.T593M|KIAA1217_uc001irv.1_Missense_Mutation_p.T443M|KIAA1217_uc010qda.1_RNA|KIAA1217_uc001irw.2_Missense_Mutation_p.T311M|KIAA1217_uc001irz.2_Missense_Mutation_p.T311M|KIAA1217_uc001irx.2_Missense_Mutation_p.T311M|KIAA1217_uc001iry.2_Missense_Mutation_p.T311M	p.T628M	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN			9	2286	+			628					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Missense_Mutation	SNP	ENST00000376454.3	37	c.1883C>T	CCDS31165.1	.	.	.	.	.	.	.	.	.	.	C	12.91	2.080632	0.36758	2.27E-4	0.0	ENSG00000120549	ENST00000376462;ENST00000376456;ENST00000458595;ENST00000442879;ENST00000376454;ENST00000376452;ENST00000438429;ENST00000430453;ENST00000307544;ENST00000450158;ENST00000396445;ENST00000376451;ENST00000396446	T;T;T;T;T;T;T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76;0.76;0.76;0.76;0.76;0.76;0.76	5.88	2.91	0.33838	.	2.091820	0.01788	N	0.032166	T	0.53498	0.1800	L	0.36672	1.1	0.09310	N	1	D;D;P;P;D;P;D;P	0.63046	0.957;0.965;0.897;0.862;0.975;0.897;0.992;0.771	P;P;B;B;P;B;P;B	0.54100	0.563;0.466;0.361;0.352;0.586;0.361;0.742;0.115	T	0.37641	-0.9697	10	0.72032	D	0.01	.	7.8065	0.29206	0.0:0.6162:0.2509:0.1329	.	593;593;311;311;311;311;628;628	Q5T5P2-7;A6NLF3;Q5T5P2-4;Q5T5P2-8;Q5T5P2-3;Q5T5P2-6;Q5T5P2;Q5T5P2-2	.;.;.;.;.;.;SKT_HUMAN;.	M	548;593;593;311;628;593;443;514;311;311;311;311;311	ENSP00000365645:T548M;ENSP00000365639:T593M;ENSP00000392625:T593M;ENSP00000365637:T628M;ENSP00000365635:T593M;ENSP00000404798:T443M;ENSP00000389680:T514M;ENSP00000302343:T311M;ENSP00000379722:T311M;ENSP00000365634:T311M;ENSP00000379723:T311M	ENSP00000302343:T311M	T	+	2	0	KIAA1217	24830362	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	0.802000	0.27069	0.812000	0.34326	0.655000	0.94253	ACG		0.582	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590	
ARMC4	55130	broad.mit.edu	37	10	28229528	28229528	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr10:28229528A>C	ENST00000305242.5	-	13	2042	c.1950T>G	c.(1948-1950)atT>atG	p.I650M	ARMC4_ENST00000545014.1_Missense_Mutation_p.I175M|ARMC4_ENST00000537576.1_Missense_Mutation_p.I342M	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	650					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						CCACCACTGGAATTAGCATGT	0.473																																						uc009xky.2																			0				ovary(4)|skin(2)	6						c.(1948-1950)ATT>ATG		armadillo repeat containing 4							109.0	92.0	98.0					10																	28229528		2203	4300	6503	SO:0001583	missense	55130						binding	g.chr10:28229528A>C	AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"""Armadillo repeat containing"""	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.1950T>G	10.37:g.28229528A>C	ENSP00000306410:p.Ile650Met					ARMC4_uc010qds.1_Missense_Mutation_p.I175M|ARMC4_uc010qdt.1_Missense_Mutation_p.I342M|ARMC4_uc001itz.2_Missense_Mutation_p.I650M|ARMC4_uc010qdu.1_Missense_Mutation_p.I342M	p.I650M	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN			13	2048	-			650			ARM 3.		A8K906|B7Z7I1|Q9H0C0	Missense_Mutation	SNP	ENST00000305242.5	37	c.1950T>G	CCDS7157.1	.	.	.	.	.	.	.	.	.	.	A	11.63	1.696092	0.30052	.	.	ENSG00000169126	ENST00000537576;ENST00000305242;ENST00000545014	T;T;T	0.69040	-0.37;-0.37;-0.37	5.39	-1.33	0.09172	Armadillo-like helical (1);Armadillo-type fold (2);	0.043953	0.85682	D	0.000000	T	0.78923	0.4360	M	0.88979	2.995	0.80722	D	1	D;D	0.69078	0.979;0.997	D;D	0.72075	0.928;0.976	T	0.75266	-0.3378	10	0.62326	D	0.03	-28.0547	6.6319	0.22861	0.3208:0.0:0.4601:0.2191	.	175;650	B7Z7I1;Q5T2S8	.;ARMC4_HUMAN	M	342;650;175	ENSP00000443208:I342M;ENSP00000306410:I650M;ENSP00000441076:I175M	ENSP00000306410:I650M	I	-	3	3	ARMC4	28269534	0.953000	0.32496	0.284000	0.24805	0.017000	0.09413	0.053000	0.14184	-0.411000	0.07530	-0.290000	0.09829	ATT		0.473	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047339.1	NM_018076	
OR13A1	79290	broad.mit.edu	37	10	45799324	45799324	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr10:45799324G>A	ENST00000553795.1	-	4	855	c.547C>T	c.(547-549)Cgc>Tgc	p.R183C	OR13A1_ENST00000374401.2_Missense_Mutation_p.R183C|OR13A1_ENST00000536058.1_Missense_Mutation_p.R183C	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1	183						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						AAATCCAAGCGCAGCATCAGC	0.587																																						uc001jcc.1																			0					0						c.(547-549)CGC>TGC		olfactory receptor, family 13, subfamily A,							47.0	50.0	49.0					10																	45799324		2203	4296	6499	SO:0001583	missense	79290				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr10:45799324G>A	AB065728	CCDS31188.1	10q11.21	2012-10-03			ENSG00000256574	ENSG00000256574		"""GPCR / Class A : Olfactory receptors"""	14772	protein-coding gene	gene with protein product							Standard	NM_001004297		Approved		uc001jcc.1	Q8NGR1	OTTHUMG00000018080	ENST00000553795.1:c.547C>T	10.37:g.45799324G>A	ENSP00000451950:p.Arg183Cys					OR13A1_uc001jcd.1_Missense_Mutation_p.R179C	p.R183C	NM_001004297	NP_001004297	Q8NGR1	O13A1_HUMAN			4	856	-			183			Extracellular (Potential).		Q2M3M4|Q5VV57|Q6IFH5|Q6ZMN6	Missense_Mutation	SNP	ENST00000553795.1	37	c.547C>T	CCDS31188.1	.	.	.	.	.	.	.	.	.	.	g	15.42	2.829195	0.50845	.	.	ENSG00000256574	ENST00000553795;ENST00000536058;ENST00000374401	T;T;T	0.00188	8.59;8.59;8.59	5.78	2.71	0.32032	GPCR, rhodopsin-like superfamily (1);	0.337003	0.21928	N	0.067072	T	0.00468	0.0015	M	0.71296	2.17	0.09310	N	1	D	0.76494	0.999	D	0.67900	0.954	T	0.44283	-0.9338	10	0.62326	D	0.03	-11.6422	12.8704	0.57962	0.0:0.0:0.578:0.422	.	183	Q8NGR1	O13A1_HUMAN	C	183	ENSP00000451950:R183C;ENSP00000438657:R183C;ENSP00000363522:R183C	ENSP00000311379:R183C	R	-	1	0	OR13A1	45119330	0.000000	0.05858	0.001000	0.08648	0.759000	0.43091	0.301000	0.19174	0.755000	0.32990	0.650000	0.86243	CGC		0.587	OR13A1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047779.2	NM_001004297	
DNTT	1791	broad.mit.edu	37	10	98079146	98079146	+	Splice_Site	SNP	C	C	T			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr10:98079146C>T	ENST00000371174.2	+	3	608	c.506C>T	c.(505-507)aCg>aTg	p.T169M	DNTT_ENST00000419175.1_Splice_Site_p.T169M			P04053	TDT_HUMAN	DNA nucleotidylexotransferase	169	Mediates interaction with DNTTIP2.				DNA modification (GO:0006304)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA nucleotidylexotransferase activity (GO:0003912)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		CAGATATTCACGGTAACGGGA	0.448																																						uc001kmf.2																			0				ovary(1)	1						c.(505-507)ACG>ATG		terminal deoxynucleotidyltransferase isoform 1							136.0	136.0	136.0					10																	98079146		2203	4300	6503	SO:0001630	splice_region_variant	1791				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding	g.chr10:98079146C>T	AB046378	CCDS7447.1	10q23-q24	2013-05-21	2013-05-21		ENSG00000107447	ENSG00000107447	2.7.7.31	"""DNA polymerases"""	2983	protein-coding gene	gene with protein product	"""Terminal deoxynucleotidyltransferase"""	187410	"""deoxynucleotidyltransferase, terminal"""				Standard	NM_004088		Approved	TDT	uc001kmf.3	P04053	OTTHUMG00000018832	ENST00000371174.2:c.507+1C>T	10.37:g.98079146C>T						DNTT_uc001kmg.2_Missense_Mutation_p.T169M	p.T169M	NM_004088	NP_004079	P04053	TDT_HUMAN		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)	3	676	+		Colorectal(252;0.0815)|all_hematologic(284;0.224)	169			Mediates interaction with DNTTIP2.		Q53FH1|Q5W103|Q96E50	Missense_Mutation	SNP	ENST00000371174.2	37	c.506C>T	CCDS7447.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.087418	0.76642	.	.	ENSG00000107447	ENST00000419175;ENST00000371174	T;T	0.47177	0.85;0.85	5.48	5.48	0.80851	DNA-directed DNA polymerase X (1);DNA-directed DNA polymerase, family X, beta-like, N-terminal (2);	0.096682	0.64402	D	0.000001	T	0.71904	0.3395	M	0.84683	2.71	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.76113	-0.3078	10	0.87932	D	0	-14.3494	15.1965	0.73096	0.0:1.0:0.0:0.0	.	169;169	P04053-2;P04053	.;TDT_HUMAN	M	169	ENSP00000401169:T169M;ENSP00000360216:T169M	ENSP00000360216:T169M	T	+	2	0	DNTT	98069136	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	4.714000	0.61902	2.733000	0.93635	0.655000	0.94253	ACG		0.448	DNTT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049607.1	NM_004088	Missense_Mutation
PAX2	5076	broad.mit.edu	37	10	102510548	102510548	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr10:102510548C>T	ENST00000428433.1	+	3	860	c.310C>T	c.(310-312)Cga>Tga	p.R104*	PAX2_ENST00000553492.1_Intron|PAX2_ENST00000361791.3_Nonsense_Mutation_p.R104*|PAX2_ENST00000556085.1_Nonsense_Mutation_p.R103*|PAX2_ENST00000355243.3_Nonsense_Mutation_p.R104*|PAX2_ENST00000370296.2_Nonsense_Mutation_p.R104*	NM_003987.3|NM_003990.3	NP_003978|NP_003981.2	Q02962	PAX2_HUMAN	paired box 2	104	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				aging (GO:0007568)|axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cell fate determination (GO:0001709)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucose stimulus (GO:0071333)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cochlea development (GO:0090102)|cochlea morphogenesis (GO:0090103)|glial cell differentiation (GO:0010001)|inner ear morphogenesis (GO:0042472)|mesenchymal to epithelial transition (GO:0060231)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate specification (GO:0007501)|mesonephric duct development (GO:0072177)|mesonephric tubule formation (GO:0072172)|mesonephros development (GO:0001823)|metanephric collecting duct development (GO:0072205)|metanephric distal convoluted tubule development (GO:0072221)|metanephric epithelium development (GO:0072207)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchyme development (GO:0072075)|metanephric nephron tubule formation (GO:0072289)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic process involved in metanephric collecting duct development (GO:1900215)|negative regulation of apoptotic process involved in metanephric nephron tubule development (GO:1900218)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of cytolysis (GO:0045918)|negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis (GO:0072305)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|negative regulation of programmed cell death (GO:0043069)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|neural tube closure (GO:0001843)|optic chiasma development (GO:0061360)|optic cup morphogenesis involved in camera-type eye development (GO:0002072)|optic nerve development (GO:0021554)|optic nerve morphogenesis (GO:0021631)|optic nerve structural organization (GO:0021633)|pancreas development (GO:0031016)|paramesonephric duct development (GO:0061205)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of metanephric DCT cell differentiation (GO:2000594)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of optic nerve formation (GO:2000597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric field specification (GO:0039003)|pronephros development (GO:0048793)|protein kinase B signaling (GO:0043491)|reactive oxygen species metabolic process (GO:0072593)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of metanephros size (GO:0035566)|response to nutrient levels (GO:0031667)|retinal pigment epithelium development (GO:0003406)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|ureter development (GO:0072189)|ureter maturation (GO:0035799)|ureter morphogenesis (GO:0072197)|urogenital system development (GO:0001655)|vestibulocochlear nerve formation (GO:0021650)|visual perception (GO:0007601)	centriolar satellite (GO:0034451)|lysosome (GO:0005764)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|protein complex (GO:0043234)|protein-DNA complex (GO:0032993)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|superoxide-generating NADPH oxidase activity (GO:0016175)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		TGAATACAAACGACAGAACCC	0.572																																						uc001krk.3																			0					0						c.(310-312)CGA>TGA		paired box protein 2 isoform e							125.0	123.0	124.0					10																	102510548		2203	4300	6503	SO:0001587	stop_gained	5076				anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity	g.chr10:102510548C>T		CCDS7499.1, CCDS41561.1	10q24.31	2011-06-20	2007-07-12		ENSG00000075891	ENSG00000075891		"""Paired boxes"", ""Homeoboxes / PRD class"""	8616	protein-coding gene	gene with protein product		167409	"""paired box gene 2"""			8431641, 7981748	Standard	NM_003990		Approved		uc001krk.4	Q02962	OTTHUMG00000018913	ENST00000428433.1:c.310C>T	10.37:g.102510548C>T	ENSP00000396259:p.Arg104*					PAX2_uc001krl.3_Nonsense_Mutation_p.R104*|PAX2_uc001krm.3_Nonsense_Mutation_p.R104*|PAX2_uc001kro.3_Nonsense_Mutation_p.R104*|PAX2_uc001krn.3_Nonsense_Mutation_p.R104*|PAX2_uc010qps.1_Nonsense_Mutation_p.R103*|PAX2_uc001krp.1_Nonsense_Mutation_p.R108*	p.R104*	NM_003990	NP_003981	Q02962	PAX2_HUMAN		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)	3	860	+		Colorectal(252;0.234)	104			Paired.		Q15105|Q15110|Q15837|Q5SZP2|Q5SZP3	Nonsense_Mutation	SNP	ENST00000428433.1	37	c.310C>T	CCDS53569.1	.	.	.	.	.	.	.	.	.	.	C	40	8.373398	0.98781	.	.	ENSG00000075891	ENST00000370296;ENST00000428433;ENST00000361791;ENST00000355243;ENST00000556085;ENST00000427256;ENST00000554172	.	.	.	5.93	1.81	0.25067	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.9419	0.86220	0.6762:0.3238:0.0:0.0	.	.	.	.	X	104;104;104;104;103;104;108	.	ENSP00000347385:R104X	R	+	1	2	PAX2	102500538	0.840000	0.29493	1.000000	0.80357	0.926000	0.56050	-0.001000	0.12947	0.386000	0.24997	-1.431000	0.01090	CGA		0.572	PAX2-202	KNOWN	basic|CCDS	protein_coding	protein_coding			
OR4C6	219432	broad.mit.edu	37	11	55433358	55433358	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr11:55433358G>T	ENST00000314259.3	+	1	745	c.716G>T	c.(715-717)aGc>aTc	p.S239I		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	239						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						TCTACCTGCAGCTCCCACCTC	0.502																																						uc001nht.3																			0				skin(2)	2						c.(715-717)AGC>ATC		olfactory receptor, family 4, subfamily C,							128.0	125.0	126.0					11																	55433358		2200	4296	6496	SO:0001583	missense	219432				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55433358G>T	CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"""GPCR / Class A : Olfactory receptors"""	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.716G>T	11.37:g.55433358G>T	ENSP00000324769:p.Ser239Ile					OR4C6_uc010rik.1_Missense_Mutation_p.S239I	p.S239I	NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN			3	981	+			239			Helical; Name=6; (Potential).		B2RP11|Q6IFD2	Missense_Mutation	SNP	ENST00000314259.3	37	c.716G>T	CCDS31506.1	.	.	.	.	.	.	.	.	.	.	G	1.177	-0.639155	0.03557	.	.	ENSG00000181903	ENST00000314259	T	0.37058	1.22	4.07	3.13	0.36017	GPCR, rhodopsin-like superfamily (1);	0.778991	0.10895	N	0.622235	T	0.36580	0.0972	M	0.62088	1.915	0.09310	N	0.999996	B	0.10296	0.003	B	0.15484	0.013	T	0.28364	-1.0046	10	0.26408	T	0.33	.	12.0474	0.53487	0.0:0.3332:0.6668:0.0	.	239	Q8NH72	OR4C6_HUMAN	I	239	ENSP00000324769:S239I	ENSP00000324769:S239I	S	+	2	0	OR4C6	55189934	0.000000	0.05858	0.351000	0.25721	0.059000	0.15707	-1.805000	0.01737	0.678000	0.31325	-0.336000	0.08194	AGC		0.502	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704	
DNAJC4	3338	broad.mit.edu	37	11	63997583	63997583	+	5'Flank	SNP	A	A	C			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr11:63997583A>C	ENST00000321685.3	+	0	0				DNAJC4_ENST00000355040.4_5'Flank|RP11-783K16.14_ENST00000534988.1_RNA|RP11-783K16.14_ENST00000539963.1_RNA|DNAJC4_ENST00000321460.5_5'Flank	NM_005528.3	NP_005519.2	Q9NNZ3	DNJC4_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 4						protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	unfolded protein binding (GO:0051082)			endometrium(1)|lung(1)|prostate(1)	3						AAAAAAAAAAACCCGCCCAGC	0.532																																						uc001nyr.1																			0											c.(745-747)GTT>GGT		Homo sapiens cDNA FLJ34477 fis, clone HLUNG2003833.																																				SO:0001631	upstream_gene_variant	0							g.chr11:63997583A>C	AF012106	CCDS41666.1	11q13	2011-09-02			ENSG00000110011	ENSG00000110011		"""Heat shock proteins / DNAJ (HSP40)"""	5271	protein-coding gene	gene with protein product		604189		HSPF2		9473517, 11147971	Standard	NM_005528		Approved	MCG18	uc001nys.3	Q9NNZ3	OTTHUMG00000167792		11.37:g.63997583A>C	Exception_encountered					DNAJC4_uc001nys.2_5'Flank|DNAJC4_uc001nyt.2_5'Flank|DNAJC4_uc001nyu.2_5'Flank	p.V249G							1	1178	-								O14716	Missense_Mutation	SNP	ENST00000321685.3	37	c.746T>G	CCDS41666.1																																																																																				0.532	DNAJC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396305.1		
CD248	57124	broad.mit.edu	37	11	66084227	66084228	+	Frame_Shift_Ins	INS	-	-	C			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr11:66084227_66084228insC	ENST00000311330.3	-	1	287_288	c.271_272insG	c.(271-273)gccfs	p.A91fs	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	91	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				anatomical structure regression (GO:0060033)|cell migration (GO:0016477)|lymph node development (GO:0048535)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26						GCATTGCCGGGCCTGCCGCTGC	0.723																																						uc001ohm.1																			0				large_intestine(3)	3						c.(271-273)GCCfs		tumor endothelial marker 1 precursor	Cefalotin(DB00456)																																			SO:0001589	frameshift_variant	57124					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding	g.chr11:66084227_66084228insC	AF279142	CCDS8134.1	11q13	2006-04-12	2006-03-28	2005-02-11	ENSG00000174807	ENSG00000174807		"""CD molecules"""	18219	protein-coding gene	gene with protein product	"""endosialin"", ""tumor endothelial marker 1"""	606064	"""CD164 sialomucin-like 1"", ""CD248 antigen, endosialin"""	CD164L1		10947988, 11084048	Standard	NM_020404		Approved	TEM1	uc001ohm.1	Q9HCU0	OTTHUMG00000167073	ENST00000311330.3:c.272dupG	11.37:g.66084229_66084229dupC	ENSP00000308117:p.Ala91fs						p.A91fs	NM_020404	NP_065137	Q9HCU0	CD248_HUMAN			1	288_289	-			91			C-type lectin.|Extracellular (Potential).		Q2M2V5|Q3SX55|Q96KB6	Frame_Shift_Ins	INS	ENST00000311330.3	37	c.271_272insG	CCDS8134.1																																																																																				0.723	CD248-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392922.2	NM_020404	
CLMP	79827	broad.mit.edu	37	11	122944226	122944226	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr11:122944226G>T	ENST00000448775.2	-	7	1418	c.1078C>A	c.(1078-1080)Ccc>Acc	p.P360T	CLMP_ENST00000530371.1_5'UTR	NM_024769.2	NP_079045.1	Q9H6B4	CLMP_HUMAN	CXADR-like membrane protein	360					digestive tract development (GO:0048565)	cell surface (GO:0009986)|cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	14						ATCATGCTGGGTGTGGTTTCT	0.537																																						uc001pyt.2																			0					0						c.(1078-1080)CCC>ACC		adipocyte-specific adhesion molecule precursor							300.0	278.0	285.0					11																	122944226		2202	4299	6501	SO:0001583	missense	79827					integral to membrane|tight junction		g.chr11:122944226G>T	BC009371	CCDS8441.1	11q24	2013-01-29			ENSG00000166250	ENSG00000166250		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	24039	protein-coding gene	gene with protein product	"""adipocyte-specific adhesion molecule"", ""coxsackie- and adenovirus receptor-like membrane protein"", ""adipocyte adhesion molecule"""	611693				12851705, 14573622	Standard	NM_024769		Approved	ASAM, FLJ22415, ACAM	uc001pyt.3	Q9H6B4		ENST00000448775.2:c.1078C>A	11.37:g.122944226G>T	ENSP00000405577:p.Pro360Thr						p.P360T	NM_024769	NP_079045	Q9H6B4	CLMP_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.73e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0446)	7	1437	-		Breast(109;0.0025)|Lung NSC(97;0.0179)|all_lung(97;0.0182)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	360			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000448775.2	37	c.1078C>A	CCDS8441.1	.	.	.	.	.	.	.	.	.	.	G	5.069	0.198316	0.09652	.	.	ENSG00000166250	ENST00000448775	T	0.80304	-1.36	5.44	0.0328	0.14177	.	0.458050	0.24720	N	0.036160	T	0.70500	0.3231	M	0.64080	1.96	0.09310	N	1	B	0.15141	0.012	B	0.14023	0.01	T	0.60214	-0.7307	10	0.54805	T	0.06	.	1.5545	0.02582	0.2333:0.2569:0.378:0.1318	.	360	Q9H6B4	CLMP_HUMAN	T	360	ENSP00000405577:P360T	ENSP00000405577:P360T	P	-	1	0	CLMP	122449436	0.911000	0.30947	0.005000	0.12908	0.247000	0.25773	1.897000	0.39799	-0.255000	0.09486	-0.136000	0.14681	CCC		0.537	CLMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387542.1	NM_024769	
CD4	920	broad.mit.edu	37	12	6923329	6923329	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr12:6923329G>A	ENST00000011653.4	+	4	494	c.236G>A	c.(235-237)cGc>cAc	p.R79H	CD4_ENST00000538827.1_3'UTR|CD4_ENST00000541982.1_Missense_Mutation_p.R24H	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	79	Ig-like V-type.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cytokine production (GO:0001816)|defense response to Gram-negative bacterium (GO:0050829)|entry into host cell (GO:0030260)|enzyme linked receptor protein signaling pathway (GO:0007167)|immune response (GO:0006955)|induction by virus of host cell-cell fusion (GO:0006948)|innate immune response (GO:0045087)|maintenance of protein location in cell (GO:0032507)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase activity (GO:0045860)|protein palmitoleylation (GO:0045234)|regulation of defense response to virus by virus (GO:0050690)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|T cell selection (GO:0045058)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|enzyme binding (GO:0019899)|extracellular matrix structural constituent (GO:0005201)|glycoprotein binding (GO:0001948)|MHC class II protein binding (GO:0042289)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)			Antithymocyte globulin(DB00098)	CTGAATGATCGCGCTGACTCA	0.522																																						uc001qqv.1																			0					0						c.(235-237)CGC>CAC		CD4 antigen precursor							129.0	127.0	128.0					12																	6923329		2203	4300	6503	SO:0001583	missense	920				cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding	g.chr12:6923329G>A	M35160	CCDS8562.1	12p13.31	2013-01-11	2006-03-28		ENSG00000010610	ENSG00000010610		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	1678	protein-coding gene	gene with protein product		186940	"""CD4 antigen (p55)"", ""T-cell surface glycoprotein CD4"""				Standard	NM_000616		Approved		uc001qqv.2	P01730	OTTHUMG00000168514	ENST00000011653.4:c.236G>A	12.37:g.6923329G>A	ENSP00000011653:p.Arg79His					CD4_uc009zez.1_Missense_Mutation_p.R24H|CD4_uc009zfa.1_RNA|CD4_uc009zfb.1_RNA|CD4_uc010sfj.1_5'UTR|CD4_uc009zfc.1_5'UTR|CD4_uc010sfk.1_5'UTR|CD4_uc010sfl.1_5'UTR|CD4_uc010sfm.1_5'UTR	p.R79H	NM_000616	NP_000607	P01730	CD4_HUMAN			4	481	+		Myeloproliferative disorder(1001;0.0122)	79			Extracellular (Potential).|Ig-like V-type.		B2R737|D3DUS5|Q4ZGK2|Q5U066|Q9UDE5	Missense_Mutation	SNP	ENST00000011653.4	37	c.236G>A	CCDS8562.1	.	.	.	.	.	.	.	.	.	.	G	17.92	3.507308	0.64410	.	.	ENSG00000010610	ENST00000011653;ENST00000541982	T;T	0.67698	-0.28;0.01	5.43	4.54	0.55810	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	0.702752	0.13768	N	0.364078	T	0.81269	0.4787	M	0.80183	2.485	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.99	T	0.70536	-0.4845	10	0.87932	D	0	-4.71	10.0124	0.41995	0.0926:0.0:0.9074:0.0	.	24;79	F5H480;P01730	.;CD4_HUMAN	H	79;24	ENSP00000011653:R79H;ENSP00000445167:R24H	ENSP00000011653:R79H	R	+	2	0	CD4	6793590	0.203000	0.23435	0.010000	0.14722	0.002000	0.02628	2.935000	0.48963	1.296000	0.44742	0.462000	0.41574	CGC		0.522	CD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399978.1	NM_000616	
PHC1	1911	broad.mit.edu	37	12	9087006	9087006	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr12:9087006G>A	ENST00000543824.1	+	11	2517	c.2185G>A	c.(2185-2187)Gtg>Atg	p.V729M	PHC1_ENST00000433083.2_Missense_Mutation_p.V684M|PHC1_ENST00000536844.1_Missense_Mutation_p.V335M|PHC1_ENST00000544916.1_Missense_Mutation_p.V729M			P78364	PHC1_HUMAN	polyhomeotic homolog 1 (Drosophila)	729					cellular response to retinoic acid (GO:0071300)|histone ubiquitination (GO:0016574)|multicellular organismal development (GO:0007275)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						ACAGGCCATCGTGAAGCCCCA	0.542																																						uc001qvd.2																			0				ovary(1)|breast(1)	2						c.(2185-2187)GTG>ATG		polyhomeotic 1-like							65.0	64.0	65.0					12																	9087006		2203	4292	6495	SO:0001583	missense	1911				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding	g.chr12:9087006G>A	U89277	CCDS8597.1	12p13	2013-01-10	2006-09-12	2002-11-15	ENSG00000111752	ENSG00000111752		"""Sterile alpha motif (SAM) domain containing"""	3182	protein-coding gene	gene with protein product		602978	"""early development regulator 1 (homolog of polyhomeotic 1)"", ""polyhomeotic-like 1 (Drosophila)"""	EDR1		9121482	Standard	XM_005253334		Approved	HPH1, RAE28	uc001qvd.3	P78364	OTTHUMG00000168275	ENST00000543824.1:c.2185G>A	12.37:g.9087006G>A	ENSP00000440674:p.Val729Met					PHC1_uc001qve.2_Missense_Mutation_p.V729M	p.V729M	NM_004426	NP_004417	P78364	PHC1_HUMAN			10	2341	+			729					D3DUV4|Q8WVM3|Q9BU63	Missense_Mutation	SNP	ENST00000543824.1	37	c.2185G>A	CCDS8597.1	.	.	.	.	.	.	.	.	.	.	G	17.90	3.502640	0.64298	.	.	ENSG00000111752	ENST00000543824;ENST00000251757;ENST00000433083;ENST00000544916;ENST00000536844	T;T;T;T;T	0.56611	0.45;0.45;0.45;0.45;0.45	5.91	5.91	0.95273	.	0.000000	0.64402	D	0.000001	T	0.75459	0.3852	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.76790	-0.2829	10	0.87932	D	0	-21.4625	19.8914	0.96931	0.0:0.0:1.0:0.0	.	729	P78364	PHC1_HUMAN	M	729;729;684;729;335	ENSP00000440674:V729M;ENSP00000251757:V729M;ENSP00000399194:V684M;ENSP00000437659:V729M;ENSP00000440488:V335M	ENSP00000251757:V729M	V	+	1	0	PHC1	8978273	1.000000	0.71417	0.993000	0.49108	0.834000	0.47266	9.421000	0.97455	2.813000	0.96785	0.655000	0.94253	GTG		0.542	PHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399115.1	NM_004426	
BICD1	636	broad.mit.edu	37	12	32491868	32491868	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr12:32491868G>C	ENST00000281474.5	+	8	2822	c.2719G>C	c.(2719-2721)Ggg>Cgg	p.G907R	BICD1_ENST00000548411.1_Intron	NM_001714.2	NP_001705.2	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	907					anatomical structure morphogenesis (GO:0009653)|intracellular mRNA localization (GO:0008298)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900737)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein localization to organelle (GO:0033365)|regulation of proteinase activated receptor activity (GO:1900276)|RNA processing (GO:0006396)|stress granule assembly (GO:0034063)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|host cell viral assembly compartment (GO:0072517)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	cytoskeletal adaptor activity (GO:0008093)|dynactin binding (GO:0034452)|dynein binding (GO:0045502)|proteinase activated receptor binding (GO:0031871)|Rab GTPase binding (GO:0017137)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			ATTCATCCAAGGGCACCGGCT	0.463																																						uc001rku.2																			0				large_intestine(1)|central_nervous_system(1)	2						c.(2719-2721)GGG>CGG		bicaudal D homolog 1 isoform 1							66.0	73.0	71.0					12																	32491868		2203	4300	6503	SO:0001583	missense	636				anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton	g.chr12:32491868G>C	U90028	CCDS8726.1, CCDS44859.1	12p11.2-p11.1	2005-01-13	2001-11-28			ENSG00000151746			1049	protein-coding gene	gene with protein product		602204	"""Bicaudal D (Drosophila) homolog 1"""			9367685	Standard	NM_001714		Approved		uc001rku.3	Q96G01	OTTHUMG00000169307	ENST00000281474.5:c.2719G>C	12.37:g.32491868G>C	ENSP00000281474:p.Gly907Arg					BICD1_uc001rkv.2_Intron|BICD1_uc010skd.1_RNA	p.G907R	NM_001714	NP_001705	Q96G01	BICD1_HUMAN	OV - Ovarian serous cystadenocarcinoma(6;0.0201)		8	2800	+	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		907					A8K2C3|F8W113|O43892|O43893	Missense_Mutation	SNP	ENST00000281474.5	37	c.2719G>C	CCDS8726.1	.	.	.	.	.	.	.	.	.	.	G	19.61	3.859568	0.71834	.	.	ENSG00000151746	ENST00000281474	T	0.55760	0.5	5.6	5.6	0.85130	.	0.000000	0.47852	D	0.000208	T	0.48840	0.1522	N	0.08118	0	0.80722	D	1	D	0.60160	0.987	P	0.54544	0.755	T	0.59440	-0.7454	10	0.87932	D	0	.	17.7978	0.88578	0.0:0.0:1.0:0.0	.	907	Q96G01	BICD1_HUMAN	R	907	ENSP00000281474:G907R	ENSP00000281474:G907R	G	+	1	0	BICD1	32383135	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.808000	0.69165	2.658000	0.90341	0.591000	0.81541	GGG		0.463	BICD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403380.1	NM_001714	
BCDIN3D	144233	broad.mit.edu	37	12	50232500	50232500	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr12:50232500C>T	ENST00000333924.4	-	2	574	c.533G>A	c.(532-534)gGc>gAc	p.G178D	BCDIN3D-AS1_ENST00000549124.1_RNA|BCDIN3D-AS1_ENST00000548872.1_RNA	NM_181708.2	NP_859059.1	Q7Z5W3	BN3D2_HUMAN	BCDIN3 domain containing	178	Bin3-type SAM. {ECO:0000255|PROSITE- ProRule:PRU00848}.				miRNA metabolic process (GO:0010586)|negative regulation of pre-miRNA processing (GO:2000632)|RNA methylation (GO:0001510)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	O-methyltransferase activity (GO:0008171)|RNA methyltransferase activity (GO:0008173)			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1)	9						CTCCCATAGGCCATGGTCTCC	0.512											OREG0021805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001rvh.2																			0				ovary(1)	1						c.(532-534)GGC>GAC		BCDIN3 domain containing							98.0	83.0	88.0					12																	50232500		2203	4300	6503	SO:0001583	missense	144233						methyltransferase activity	g.chr12:50232500C>T		CCDS8790.1	12q13.13	2008-03-12				ENSG00000186666			27050	protein-coding gene	gene with protein product							Standard	NM_181708		Approved		uc001rvh.3	Q7Z5W3	OTTHUMG00000169807	ENST00000333924.4:c.533G>A	12.37:g.50232500C>T	ENSP00000335201:p.Gly178Asp		OREG0021805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	968	LOC100286844_uc010smm.1_Intron|LOC100286844_uc001rvg.2_RNA|LOC100286844_uc010smn.1_RNA	p.G178D	NM_181708	NP_859059	Q7Z5W3	BN3D2_HUMAN			2	575	-			178			Bin3-type SAM.		A8K829	Missense_Mutation	SNP	ENST00000333924.4	37	c.533G>A	CCDS8790.1	.	.	.	.	.	.	.	.	.	.	C	18.65	3.669565	0.67814	.	.	ENSG00000186666	ENST00000333924	T	0.74315	-0.83	5.42	3.57	0.40892	Bin3-type S-adenosyl-L-methionine binding domain (1);Bicoid-interacting 3 (1);	0.094101	0.64402	D	0.000001	D	0.86843	0.6030	M	0.92219	3.285	0.80722	D	1	D	0.64830	0.994	D	0.67548	0.952	D	0.87004	0.2118	10	0.87932	D	0	.	8.8117	0.34971	0.1495:0.7708:0.0:0.0797	.	178	Q7Z5W3	BN3D2_HUMAN	D	178	ENSP00000335201:G178D	ENSP00000335201:G178D	G	-	2	0	BCDIN3D	48518767	1.000000	0.71417	0.274000	0.24659	0.984000	0.73092	4.298000	0.59067	0.760000	0.33108	0.591000	0.81541	GGC		0.512	BCDIN3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405982.1	NM_181708	
ATF7	11016	broad.mit.edu	37	12	53928392	53928392	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr12:53928392G>A	ENST00000548446.2	-	6	599	c.487C>T	c.(487-489)Cgt>Tgt	p.R163C	ATF7_ENST00000415113.1_Missense_Mutation_p.R131C|ATF7_ENST00000456903.4_Missense_Mutation_p.R152C|ATF7_ENST00000420353.2_Missense_Mutation_p.R152C|RP11-793H13.10_ENST00000591834.1_Missense_Mutation_p.R152C|ATF7_ENST00000328463.7_Missense_Mutation_p.R163C			P17544	ATF7_HUMAN	activating transcription factor 7	163	Transactivation domain.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|mitogen-activated protein kinase binding (GO:0051019)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9					Pseudoephedrine(DB00852)	GAGCCAGGACGTACAATGGTG	0.512																																						uc001sdy.2																			0				ovary(1)|lung(1)	2						c.(487-489)CGT>TGT		activating transcription factor 7 isoform 1							116.0	124.0	121.0					12																	53928392		1995	4165	6160	SO:0001583	missense	11016				interspecies interaction between organisms	cytoplasm|nuclear periphery|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:53928392G>A	X52943	CCDS44906.1, CCDS58238.1	12q13	2013-01-10				ENSG00000170653		"""basic leucine zipper proteins"""	792	protein-coding gene	gene with protein product		606371				1694576, 11278933	Standard	NM_006856		Approved	ATFA	uc001sdz.3	P17544	OTTHUMG00000169776	ENST00000548446.2:c.487C>T	12.37:g.53928392G>A	ENSP00000449938:p.Arg163Cys					ATF7_uc010sok.1_RNA|ATF7_uc001sdz.2_Missense_Mutation_p.R152C|ATF7_uc010sol.1_Missense_Mutation_p.R131C	p.R163C	NM_001130059	NP_001123531	P17544	ATF7_HUMAN			5	508	-			163			Transactivation domain.		A5D6Y4|B2RMP1|B4DQL4|Q13814|Q8IVR8|Q9UD83	Missense_Mutation	SNP	ENST00000548446.2	37	c.487C>T		.	.	.	.	.	.	.	.	.	.	G	27.5	4.838990	0.91117	.	.	ENSG00000170653	ENST00000548446;ENST00000328463;ENST00000415113;ENST00000420353;ENST00000456903	T;T;T;T;T	0.50548	0.74;0.74;0.74;0.78;0.78	4.23	4.23	0.50019	.	0.000000	0.85682	D	0.000000	T	0.65059	0.2655	L	0.61218	1.895	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77557	0.933;0.985;0.99	T	0.66308	-0.5956	10	0.46703	T	0.11	-30.6884	15.9044	0.79412	0.0:0.0:1.0:0.0	.	131;152;163	P17544-2;B2RMP1;P17544	.;.;ATF7_HUMAN	C	163;163;131;152;152	ENSP00000449938:R163C;ENSP00000329212:R163C;ENSP00000404880:R131C;ENSP00000399465:R152C;ENSP00000387406:R152C	ENSP00000329212:R163C	R	-	1	0	ATF7	52214659	1.000000	0.71417	0.995000	0.50966	0.994000	0.84299	9.022000	0.93678	2.350000	0.79820	0.561000	0.74099	CGT		0.512	ATF7-007	KNOWN	NMD_exception|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000406302.2	NM_001130059	
SDR9C7	121214	broad.mit.edu	37	12	57328041	57328041	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr12:57328041G>A	ENST00000293502.1	-	1	148	c.5C>T	c.(4-6)gCg>gTg	p.A2V		NM_148897.2	NP_683695.1	Q8NEX9	DR9C7_HUMAN	short chain dehydrogenase/reductase family 9C, member 7	2					oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	retinol dehydrogenase activity (GO:0004745)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)	7						TGTGAGGGCCGCCATAGGGCA	0.542																																						uc010sqw.1																			0				central_nervous_system(1)	1						c.(4-6)GCG>GTG		short chain dehydrogenase/reductase family 9C,							40.0	40.0	40.0					12																	57328041		2203	4300	6503	SO:0001583	missense	121214					cytoplasm	binding|oxidoreductase activity	g.chr12:57328041G>A	AY044434	CCDS8926.1	12q13.3	2014-09-04			ENSG00000170426	ENSG00000170426	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	29958	protein-coding gene	gene with protein product		609769				12234675, 19027726	Standard	NM_148897		Approved	SDR-O, RDHS	uc010sqw.2	Q8NEX9	OTTHUMG00000171004	ENST00000293502.1:c.5C>T	12.37:g.57328041G>A	ENSP00000293502:p.Ala2Val						p.A2V	NM_148897	NP_683695	Q8NEX9	DR9C7_HUMAN			1	5	-			2					B3KVB4	Missense_Mutation	SNP	ENST00000293502.1	37	c.5C>T	CCDS8926.1	.	.	.	.	.	.	.	.	.	.	G	12.78	2.041993	0.35989	.	.	ENSG00000170426	ENST00000293502	D	0.89415	-2.51	5.18	3.26	0.37387	.	0.343834	0.23750	N	0.044928	T	0.74612	0.3739	N	0.05078	-0.115	0.36721	D	0.881183	B	0.11235	0.004	B	0.09377	0.004	T	0.70868	-0.4755	10	0.27785	T	0.31	.	9.912	0.41411	0.0:0.1493:0.6958:0.1548	.	2	Q8NEX9	DR9C7_HUMAN	V	2	ENSP00000293502:A2V	ENSP00000293502:A2V	A	-	2	0	SDR9C7	55614308	0.985000	0.35326	0.832000	0.32986	0.165000	0.22458	1.909000	0.39917	1.402000	0.46780	0.655000	0.94253	GCG		0.542	SDR9C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411211.1	NM_148897	
AVIL	10677	broad.mit.edu	37	12	58207190	58207190	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr12:58207190C>T	ENST00000257861.3	-	3	588	c.158G>A	c.(157-159)aGt>aAt	p.S53N	AVIL_ENST00000537081.1_Missense_Mutation_p.S46N|RP11-571M6.18_ENST00000602327.1_lincRNA	NM_006576.3	NP_006567.3	O75366	AVIL_HUMAN	advillin	53	Core. {ECO:0000250}.				actin filament capping (GO:0051693)|cilium morphogenesis (GO:0060271)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|positive regulation of neuron projection development (GO:0010976)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)	actin binding (GO:0003779)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					GGATAGGAGACTGGCCACTCT	0.582																																						uc001sqj.1																			0				central_nervous_system(1)	1						c.(157-159)AGT>AAT		advillin							69.0	64.0	65.0					12																	58207190		2203	4300	6503	SO:0001583	missense	10677				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding	g.chr12:58207190C>T	AF041449	CCDS8959.1	12q13.11	2006-03-30				ENSG00000135407			14188	protein-coding gene	gene with protein product		613397				9664034, 12034507	Standard	NM_006576		Approved	p92, FLJ12386, ADVIL, DOC6	uc001sqj.2	O75366	OTTHUMG00000170461	ENST00000257861.3:c.158G>A	12.37:g.58207190C>T	ENSP00000257861:p.Ser53Asn					AVIL_uc009zqe.1_Missense_Mutation_p.S46N|AVIL_uc001sql.3_Missense_Mutation_p.S30N	p.S53N	NM_006576	NP_006567	O75366	AVIL_HUMAN			3	187	-	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		53			Gelsolin-like 1.|Core (By similarity).		B2RAU7|Q2NKM9	Missense_Mutation	SNP	ENST00000257861.3	37	c.158G>A	CCDS8959.1	.	.	.	.	.	.	.	.	.	.	C	0.775	-0.764400	0.02996	.	.	ENSG00000135407	ENST00000537081;ENST00000257861;ENST00000549994	T;T;T	0.17213	2.29;2.29;2.29	4.73	2.9	0.33743	Gelsolin domain (1);	0.514735	0.23560	N	0.046874	T	0.07728	0.0194	N	0.11255	0.115	0.09310	N	0.999995	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.17722	0.005;0.001;0.019	T	0.36456	-0.9747	10	0.19590	T	0.45	-1.1988	6.4968	0.22146	0.0:0.6781:0.1509:0.1709	.	46;53;53	O75366-2;F8VVU1;O75366	.;.;AVIL_HUMAN	N	46;53;53	ENSP00000443207:S46N;ENSP00000257861:S53N;ENSP00000449239:S53N	ENSP00000257861:S53N	S	-	2	0	AVIL	56493457	0.284000	0.24287	0.132000	0.22025	0.402000	0.30811	0.915000	0.28638	0.716000	0.32124	0.655000	0.94253	AGT		0.582	AVIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409276.1	NM_006576	
CPSF6	11052	broad.mit.edu	37	12	69653833	69653833	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr12:69653833G>T	ENST00000435070.2	+	8	1435	c.1325G>T	c.(1324-1326)gGg>gTg	p.G442V	CPSF6_ENST00000266679.8_Missense_Mutation_p.G479V|CPSF6_ENST00000456847.3_Missense_Mutation_p.G369V|CPSF6_ENST00000551516.1_Intron	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa	442					mRNA polyadenylation (GO:0006378)|mRNA processing (GO:0006397)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			GGTGATTATGGGAGTGCTATT	0.353																																						uc001sut.3																			0					0						c.(1324-1326)GGG>GTG		cleavage and polyadenylation specific factor 6,							121.0	121.0	121.0					12																	69653833		2203	4300	6503	SO:0001583	missense	11052				mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding	g.chr12:69653833G>T	X67336	CCDS8988.1, CCDS73494.1	12q15	2013-06-18	2002-08-29			ENSG00000111605		"""RNA binding motif (RRM) containing"""	13871	protein-coding gene	gene with protein product	"""cleavage factor Im complex 68 kDa subunit"""	604979	"""cleavage and polyadenylation specific factor 6, 68kD subunit"""			9659921, 17267687	Standard	NM_007007		Approved	CFIM, HPBRII-4, HPBRII-7, CFIM68	uc001sut.4	Q16630		ENST00000435070.2:c.1325G>T	12.37:g.69653833G>T	ENSP00000391774:p.Gly442Val					CPSF6_uc001suu.3_Missense_Mutation_p.G479V|CPSF6_uc010stk.1_Missense_Mutation_p.G73V	p.G442V	NM_007007	NP_008938	Q16630	CPSF6_HUMAN	Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)		8	1435	+	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		442					A8K7K9|Q53ES1|Q9BSJ7|Q9BW18	Missense_Mutation	SNP	ENST00000435070.2	37	c.1325G>T	CCDS8988.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.580329	0.86645	.	.	ENSG00000111605	ENST00000435070;ENST00000456847;ENST00000266679	D;D;D	0.87887	-2.31;-2.31;-2.31	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.90776	0.7104	L	0.38175	1.15	0.80722	D	1	P;P;D	0.89917	0.642;0.784;1.0	B;P;D	0.87578	0.331;0.651;0.998	D	0.88738	0.3241	9	.	.	.	-7.2017	20.2626	0.98452	0.0:0.0:1.0:0.0	.	190;479;442	B4DSU9;Q16630-2;Q16630	.;.;CPSF6_HUMAN	V	442;369;479	ENSP00000391774:G442V;ENSP00000391437:G369V;ENSP00000266679:G479V	.	G	+	2	0	CPSF6	67940100	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.869000	0.99810	2.873000	0.98535	0.563000	0.77884	GGG		0.353	CPSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403609.1	NM_007007	
NOS1	4842	broad.mit.edu	37	12	117718572	117718572	+	Silent	SNP	G	G	A	rs181652902	byFrequency	TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr12:117718572G>A	ENST00000338101.4	-	7	1486	c.1482C>T	c.(1480-1482)gaC>gaT	p.D494D	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000317775.6_Silent_p.D494D			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)	p.D494D(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		GGGTGGAGCCGTCAGGCTGCT	0.617													G|||	9	0.00179712	0.0	0.0	5008	,	,		16428	0.0089		0.0	False		,,,				2504	0.0				Esophageal Squamous(162;1748 2599 51982 52956)	uc001twm.1																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|skin(3)|pancreas(1)	7						c.(1480-1482)GAC>GAT		nitric oxide synthase 1, neuronal	L-Citrulline(DB00155)	G	,,,	0,4122		0,0,2061	45.0	57.0	53.0		1482,474,474,1482	-10.3	0.0	12		53	3,8461		0,3,4229	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NOS1	NM_000620.4,NM_001204213.1,NM_001204214.1,NM_001204218.1	,,,	0,3,6290	AA,AG,GG		0.0354,0.0,0.0238	,,,	494/1435,158/1099,158/1099,494/1469	117718572	3,12583	2061	4232	6293	SO:0001819	synonymous_variant	4842				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr12:117718572G>A		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.1482C>T	12.37:g.117718572G>A							p.D494D	NM_000620	NP_000611	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	8	2168	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		494						Silent	SNP	ENST00000338101.4	37	c.1482C>T	CCDS55890.1																																																																																				0.617	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1		
TMEM132B	114795	broad.mit.edu	37	12	126004117	126004117	+	Silent	SNP	C	C	T			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr12:126004117C>T	ENST00000299308.3	+	4	1232	c.1224C>T	c.(1222-1224)gtC>gtT	p.V408V		NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	408						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		AGCTGGTCGTCTCCGAGATCT	0.532																																						uc001uhe.1																			0				skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1)	19						c.(1222-1224)GTC>GTT		transmembrane protein 132B							102.0	102.0	102.0					12																	126004117		1954	4138	6092	SO:0001819	synonymous_variant	114795					integral to membrane		g.chr12:126004117C>T	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.1224C>T	12.37:g.126004117C>T							p.V408V	NM_052907	NP_443139	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	4	1232	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		408			Extracellular (Potential).		A2RRG8|Q8NA73|Q96JN9|Q96PY1	Silent	SNP	ENST00000299308.3	37	c.1224C>T	CCDS41859.1																																																																																				0.532	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907	
GLT1D1	144423	broad.mit.edu	37	12	129360558	129360558	+	Silent	SNP	C	C	T	rs144231014		TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr12:129360558C>T	ENST00000442111.2	+	2	256	c.168C>T	c.(166-168)tgC>tgT	p.C56C	GLT1D1_ENST00000537468.1_Silent_p.C45C|GLT1D1_ENST00000542193.1_5'UTR|GLT1D1_ENST00000281703.6_Silent_p.C56C			Q96MS3	GL1D1_HUMAN	glycosyltransferase 1 domain containing 1	56					biosynthetic process (GO:0009058)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)		CTGAGAACTGCGAGGCTGCCC	0.483																																						uc010tbh.1																			0					0						c.(133-135)TGC>TGT		glycosyltransferase 1 domain containing 1		C		3,4403	6.2+/-15.9	0,3,2200	153.0	156.0	155.0		168	-10.0	0.0	12	dbSNP_134	155	0,8600		0,0,4300	no	coding-synonymous	GLT1D1	NM_144669.1		0,3,6500	TT,TC,CC		0.0,0.0681,0.0231		56/267	129360558	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	144423				biosynthetic process	extracellular region	transferase activity, transferring glycosyl groups	g.chr12:129360558C>T		CCDS9265.1	12q24.32	2013-02-22			ENSG00000151948	ENSG00000151948		"""Glycosyltransferase group 1 domain containing"""	26483	protein-coding gene	gene with protein product							Standard	NM_144669		Approved	FLJ31978	uc001uhx.1	Q96MS3	OTTHUMG00000168437	ENST00000442111.2:c.168C>T	12.37:g.129360558C>T						GLT1D1_uc001uhx.1_Silent_p.C56C|GLT1D1_uc001uhy.1_RNA	p.C45C	NM_144669	NP_653270	Q96MS3	GL1D1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)	2	144	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		56					Q86XG8	Silent	SNP	ENST00000442111.2	37	c.135C>T																																																																																					0.483	GLT1D1-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000399740.1	NM_144669	
ZMYM5	9205	broad.mit.edu	37	13	20409775	20409775	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr13:20409775A>G	ENST00000337963.4	-	7	1357	c.1093T>C	c.(1093-1095)Tgc>Cgc	p.C365R		NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	365						nucleus (GO:0005634)	zinc ion binding (GO:0008270)			kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		TTATTAAAGCAATGGTTACTG	0.363																																						uc010tcn.1																			0					0						c.(1093-1095)TGC>CGC		zinc finger protein 237 isoform 3							154.0	132.0	139.0					13																	20409775		1568	3582	5150	SO:0001583	missense	9205					nucleus	zinc ion binding	g.chr13:20409775A>G	AF161535	CCDS31942.1, CCDS31943.1	13q12	2013-01-08	2005-09-12	2005-09-12	ENSG00000132950	ENSG00000132950		"""Zinc fingers, MYM type"""	13029	protein-coding gene	gene with protein product			"""zinc finger protein 237"""	ZNF237			Standard	NM_001039650		Approved	ZNF198L1, MYM	uc010tcn.1	Q9UJ78	OTTHUMG00000016504	ENST00000337963.4:c.1093T>C	13.37:g.20409775A>G	ENSP00000337034:p.Cys365Arg					ZMYM5_uc001umm.1_Missense_Mutation_p.C189R	p.C365R	NM_001142684	NP_001136156	Q9UJ78	ZMYM5_HUMAN		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)	7	1358	-		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	365			MYM-type 3.		B2R6V1|Q5T6E1|Q5T6E2|Q5T6E4|Q96IY6|Q9NZY5|Q9UBW0|Q9UJ77	Missense_Mutation	SNP	ENST00000337963.4	37	c.1093T>C		.	.	.	.	.	.	.	.	.	.	A	21.5	4.155621	0.78114	.	.	ENSG00000132950	ENST00000337963;ENST00000502168	T;T	0.78003	-1.12;-1.14	4.88	4.88	0.63580	TRASH (1);Zinc finger, MYM-type (1);	0.000000	0.85682	D	0.000000	D	0.86485	0.5944	M	0.68317	2.08	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88104	0.2821	10	0.87932	D	0	-4.2739	14.9478	0.71047	1.0:0.0:0.0:0.0	.	365	Q9UJ78	ZMYM5_HUMAN	R	365;355	ENSP00000337034:C365R;ENSP00000445779:C355R	ENSP00000337034:C365R	C	-	1	0	ZMYM5	19307775	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	8.680000	0.91225	2.176000	0.68965	0.454000	0.30748	TGC		0.363	ZMYM5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014242	
NBEA	26960	broad.mit.edu	37	13	35730325	35730325	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr13:35730325A>C	ENST00000400445.3	+	20	3167	c.2633A>C	c.(2632-2634)aAc>aCc	p.N878T	NBEA_ENST00000310336.4_Missense_Mutation_p.N878T|NBEA_ENST00000540320.1_Missense_Mutation_p.N878T|NBEA_ENST00000379939.2_Missense_Mutation_p.N878T	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	878					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CTTTTCAGTAACAGCCGTGAA	0.313																																						uc001uvb.2																			0				ovary(9)|large_intestine(2)	11						c.(2632-2634)AAC>ACC		neurobeachin							25.0	24.0	24.0					13																	35730325		1812	4072	5884	SO:0001583	missense	26960					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	g.chr13:35730325A>C	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.2633A>C	13.37:g.35730325A>C	ENSP00000383295:p.Asn878Thr						p.N878T	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)	21	2839	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	878					B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	ENST00000400445.3	37	c.2633A>C	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	A	14.47	2.544827	0.45280	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336	T;T;T;T	0.20598	2.06;2.06;2.06;2.06	5.85	5.85	0.93711	.	0.050025	0.85682	D	0.000000	T	0.24392	0.0591	L	0.53249	1.67	0.80722	D	1	B	0.11235	0.004	B	0.08055	0.003	T	0.01587	-1.1318	10	0.41790	T	0.15	.	16.2948	0.82765	1.0:0.0:0.0:0.0	.	878	Q5T321	.	T	878	ENSP00000440951:N878T;ENSP00000383295:N878T;ENSP00000369271:N878T;ENSP00000308534:N878T	ENSP00000308534:N878T	N	+	2	0	NBEA	34628325	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.881000	0.69706	2.253000	0.74438	0.456000	0.33151	AAC		0.313	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678	
SCEL	8796	broad.mit.edu	37	13	78176839	78176839	+	Missense_Mutation	SNP	C	C	T	rs144213801		TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr13:78176839C>T	ENST00000349847.3	+	17	1112	c.1028C>T	c.(1027-1029)aCg>aTg	p.T343M	SCEL_ENST00000377246.3_Missense_Mutation_p.T323M|SCEL_ENST00000469982.1_Intron|SCEL_ENST00000535157.1_Missense_Mutation_p.T321M|SCEL-AS1_ENST00000456280.2_RNA|SCEL-AS1_ENST00000457528.2_RNA	NM_144777.2	NP_659001.2	O95171	SCEL_HUMAN	sciellin	343	16 X approximate tandem repeats.				embryo development (GO:0009790)|epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		ATGAATAAAACGAGCAGAAGG	0.348													c|||	1	0.000199681	0.0	0.0	5008	,	,		18101	0.0		0.0	False		,,,				2504	0.001					uc001vki.2																			0				ovary(4)|breast(1)	5						c.(1027-1029)ACG>ATG		sciellin isoform 1		T	MET/THR,MET/THR,MET/THR	0,4406		0,0,2203	128.0	134.0	132.0		962,968,1028	-1.4	0.0	13	dbSNP_134	132	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense	SCEL	NM_001160706.1,NM_003843.3,NM_144777.2	81,81,81	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign,benign,benign	321/647,323/669,343/689	78176839	2,13004	2203	4300	6503	SO:0001583	missense	8796				embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding	g.chr13:78176839C>T	AF045941	CCDS9458.1, CCDS9459.1, CCDS53877.1	13q22	2008-07-18			ENSG00000136155	ENSG00000136155			10573	protein-coding gene	gene with protein product		604112				9813070	Standard	NM_003843		Approved	FLJ21667, MGC22531	uc001vki.3	O95171	OTTHUMG00000017107	ENST00000349847.3:c.1028C>T	13.37:g.78176839C>T	ENSP00000302579:p.Thr343Met					SCEL_uc001vkj.2_Missense_Mutation_p.T323M|SCEL_uc010thx.1_Missense_Mutation_p.T321M	p.T343M	NM_144777	NP_659001	O95171	SCEL_HUMAN		GBM - Glioblastoma multiforme(99;0.0233)	17	1198	+		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)	343			16 X approximate tandem repeats.|5.		B7Z797|F5H651|Q53H61|Q5W0S8|Q5W0S9|Q86X00	Missense_Mutation	SNP	ENST00000349847.3	37	c.1028C>T	CCDS9459.1	.	.	.	.	.	.	.	.	.	.	c	7.819	0.717453	0.15372	0.0	2.33E-4	ENSG00000136155	ENST00000535157;ENST00000377246;ENST00000349847	T;T;T	0.24151	1.87;1.87;1.87	3.93	-1.42	0.08913	.	1.441670	0.04604	N	0.399068	T	0.21801	0.0525	L	0.57536	1.79	0.09310	N	1	B;B;B	0.15473	0.004;0.013;0.004	B;B;B	0.11329	0.003;0.006;0.004	T	0.29027	-1.0025	10	0.37606	T	0.19	0.8378	0.5737	0.00700	0.1757:0.3312:0.1718:0.3212	.	321;323;343	F5H651;O95171-2;O95171	.;.;SCEL_HUMAN	M	321;323;343	ENSP00000437895:T321M;ENSP00000366454:T323M;ENSP00000302579:T343M	ENSP00000302579:T343M	T	+	2	0	SCEL	77074840	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.016000	0.03633	-0.126000	0.11682	-0.119000	0.15052	ACG		0.348	SCEL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045339.2	NM_144777	
HECTD1	25831	broad.mit.edu	37	14	31582555	31582555	+	Frame_Shift_Del	DEL	C	C	-			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr14:31582555delC	ENST00000399332.1	-	33	6480	c.5992delG	c.(5992-5994)gaafs	p.E1998fs	HECTD1_ENST00000553700.1_Frame_Shift_Del_p.E1998fs	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1998					neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		AGGACATCTTCTACTCCACAA	0.403																																						uc001wrc.1																			0				ovary(3)|large_intestine(1)|lung(1)	5						c.(5992-5994)GAAfs		HECT domain containing 1							164.0	160.0	161.0					14																	31582555		1864	4104	5968	SO:0001589	frameshift_variant	25831				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity	g.chr14:31582555delC	AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"""Ankyrin repeat domain containing"""	20157	protein-coding gene	gene with protein product			"""HECT domain containing 1"""			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.5992delG	14.37:g.31582555delC	ENSP00000382269:p.Glu1998fs					HECTD1_uc001wra.1_Frame_Shift_Del_p.E124fs|HECTD1_uc001wrb.1_Frame_Shift_Del_p.E124fs|HECTD1_uc001wrd.1_Frame_Shift_Del_p.E1466fs	p.E1998fs	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)	33	6481	-	Hepatocellular(127;0.0877)|Breast(36;0.176)		1998					D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Frame_Shift_Del	DEL	ENST00000399332.1	37	c.5992delG	CCDS41939.1																																																																																				0.403	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1		
RPL10L	140801	broad.mit.edu	37	14	47120929	47120929	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr14:47120929C>T	ENST00000298283.3	-	1	99	c.11G>A	c.(10-12)cGt>cAt	p.R4H		NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN	ribosomal protein L10-like	4					spermatogenesis (GO:0007283)|translation (GO:0006412)	cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)	structural constituent of ribosome (GO:0003735)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						GCGAGCTGGACGGCGCCCCAT	0.557																																						uc001wwg.2																			0				ovary(1)	1						c.(10-12)CGT>CAT		ribosomal protein L10-like protein							67.0	71.0	70.0					14																	47120929		2203	4300	6503	SO:0001583	missense	140801				spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome	g.chr14:47120929C>T	AB063608	CCDS32071.1	14q21.2	2011-09-15			ENSG00000165496	ENSG00000165496		"""L ribosomal proteins"""	17976	protein-coding gene	gene with protein product						19123937	Standard	NM_080746		Approved		uc001wwg.3	Q96L21	OTTHUMG00000157869	ENST00000298283.3:c.11G>A	14.37:g.47120929C>T	ENSP00000298283:p.Arg4His						p.R4H	NM_080746	NP_542784	Q96L21	RL10L_HUMAN			1	100	-			4					Q8IUD1	Missense_Mutation	SNP	ENST00000298283.3	37	c.11G>A	CCDS32071.1	.	.	.	.	.	.	.	.	.	.	C	11.87	1.768815	0.31320	.	.	ENSG00000165496	ENST00000298283	T	0.77877	-1.13	4.32	4.32	0.51571	Ribosomal protein L10e/L16 (1);	0.060938	0.64402	D	0.000004	T	0.81749	0.4888	M	0.92691	3.335	0.58432	D	0.999999	B	0.12630	0.006	B	0.08055	0.003	T	0.82348	-0.0502	10	0.66056	D	0.02	-25.8262	12.6152	0.56573	0.0:1.0:0.0:0.0	.	4	Q96L21	RL10L_HUMAN	H	4	ENSP00000298283:R4H	ENSP00000298283:R4H	R	-	2	0	RPL10L	46190679	0.990000	0.36364	0.972000	0.41901	0.223000	0.24884	3.208000	0.51114	2.688000	0.91661	0.655000	0.94253	CGT		0.557	RPL10L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349819.1		
ACYP1	97	broad.mit.edu	37	14	75520272	75520272	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr14:75520272C>T	ENST00000238618.3	-	3	278	c.175G>A	c.(175-177)Gtg>Atg	p.V59M	MLH3_ENST00000556257.1_5'Flank|ACYP1_ENST00000357971.3_3'UTR|ACYP1_ENST00000555694.1_Missense_Mutation_p.V59M|MLH3_ENST00000355774.2_5'Flank|MLH3_ENST00000238662.7_5'Flank|MLH3_ENST00000380968.2_5'Flank|ACYP1_ENST00000555463.1_Missense_Mutation_p.V89M	NM_001107.3	NP_001098.1	P07311	ACYP1_HUMAN	acylphosphatase 1, erythrocyte (common) type	59	Acylphosphatase-like. {ECO:0000255|PROSITE-ProRule:PRU00520}.				phosphate-containing compound metabolic process (GO:0006796)	extracellular vesicular exosome (GO:0070062)	acylphosphatase activity (GO:0003998)			large_intestine(2)	2				BRCA - Breast invasive adenocarcinoma(234;0.00646)		ATATGACGCACCTTGGAGATG	0.478																																						uc001xrg.2																			0					0						c.(175-177)GTG>ATG		acylphosphatase 1 isoform a							249.0	222.0	231.0					14																	75520272		2203	4300	6503	SO:0001583	missense	97				phosphate metabolic process		acylphosphatase activity	g.chr14:75520272C>T	X84194	CCDS9838.1, CCDS45137.1	14q24.3	2014-08-08			ENSG00000119640	ENSG00000119640	3.6.1.7		179	protein-coding gene	gene with protein product		600875				7796909, 9730610	Standard	NM_001107		Approved		uc001xrg.3	P07311	OTTHUMG00000171767	ENST00000238618.3:c.175G>A	14.37:g.75520272C>T	ENSP00000238618:p.Val59Met					MLH3_uc001xrd.1_5'Flank|MLH3_uc001xre.1_5'Flank|ACYP1_uc001xrf.2_3'UTR	p.V59M	NM_001107	NP_001098	P07311	ACYP1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00646)	3	263	-			59			Acylphosphatase-like.		A6NDV8|B2R590	Missense_Mutation	SNP	ENST00000238618.3	37	c.175G>A	CCDS9838.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.795153	0.90453	.	.	ENSG00000119640	ENST00000238618;ENST00000555463;ENST00000555694	.	.	.	5.73	5.73	0.89815	Acylphosphatase-like (3);	0.130135	0.51477	D	0.000084	D	0.82701	0.5094	.	.	.	0.80722	D	1	D	0.58620	0.983	D	0.69654	0.965	T	0.82772	-0.0292	8	0.54805	T	0.06	-4.3745	19.9568	0.97222	0.0:1.0:0.0:0.0	.	59	P07311	ACYP1_HUMAN	M	59;89;59	.	ENSP00000238618:V59M	V	-	1	0	ACYP1	74590025	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.323000	0.79105	2.729000	0.93468	0.460000	0.39030	GTG		0.478	ACYP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415013.1		
AHNAK2	113146	broad.mit.edu	37	14	105412495	105412495	+	Missense_Mutation	SNP	G	G	A	rs374657511		TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr14:105412495G>A	ENST00000333244.5	-	7	9412	c.9293C>T	c.(9292-9294)aCg>aTg	p.T3098M	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3098						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GTCGGGGGCCGTCACGTCCGT	0.627																																						uc010axc.1																			0				ovary(1)	1						c.(9292-9294)ACG>ATG		AHNAK nucleoprotein 2							117.0	112.0	113.0					14																	105412495		1912	4100	6012	SO:0001583	missense	113146					nucleus		g.chr14:105412495G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.9293C>T	14.37:g.105412495G>A	ENSP00000353114:p.Thr3098Met					AHNAK2_uc001ypx.2_Missense_Mutation_p.T2998M	p.T3098M	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	9413	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	3098					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.9293C>T	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	N	4.172	0.030391	0.08101	.	.	ENSG00000185567	ENST00000333244	T	0.00753	5.74	3.5	0.422	0.16457	.	.	.	.	.	T	0.00608	0.0020	L	0.42744	1.35	0.09310	N	1	P	0.40000	0.698	B	0.25614	0.062	T	0.49560	-0.8927	9	0.48119	T	0.1	.	2.4815	0.04588	0.2023:0.3768:0.3061:0.1148	.	3098	Q8IVF2	AHNK2_HUMAN	M	3098	ENSP00000353114:T3098M	ENSP00000353114:T3098M	T	-	2	0	AHNAK2	104483540	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.342000	0.00505	0.101000	0.17610	-0.642000	0.03964	ACG		0.627	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420	
MAPKBP1	23005	broad.mit.edu	37	15	42111153	42111153	+	Silent	SNP	C	C	T			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr15:42111153C>T	ENST00000456763.2	+	21	2503	c.2307C>T	c.(2305-2307)aaC>aaT	p.N769N	MAPKBP1_ENST00000260357.7_Silent_p.N602N|MAPKBP1_ENST00000514566.1_Silent_p.N763N|MAPKBP1_ENST00000457542.2_Silent_p.N763N|MAPKBP1_ENST00000221214.6_Silent_p.N646N	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	769								p.N763N(1)		breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		CTGGACCCAACCGGTGAGAAC	0.607																																						uc001zok.3																			1	Substitution - coding silent(1)	p.N763N(1)	central_nervous_system(1)	central_nervous_system(5)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	10						c.(2305-2307)AAC>AAT		mitogen-activated protein kinase binding protein							60.0	55.0	57.0					15																	42111153		2203	4300	6503	SO:0001819	synonymous_variant	23005							g.chr15:42111153C>T	AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"""WD repeat domain containing"""	29536	protein-coding gene	gene with protein product			"""mitogen activated protein kinase binding protein 1"""			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.2307C>T	15.37:g.42111153C>T						MAPKBP1_uc001zoj.3_Silent_p.N763N|MAPKBP1_uc010bcj.2_Silent_p.N270N|MAPKBP1_uc010bci.2_Silent_p.N763N|MAPKBP1_uc010udb.1_Silent_p.N602N|MAPKBP1_uc010bck.2_5'UTR|MAPKBP1_uc010bcl.2_Silent_p.N270N	p.N769N	NM_001128608	NP_001122080	O60336	MABP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)	21	2593	+		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)	769					A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Silent	SNP	ENST00000456763.2	37	c.2307C>T	CCDS45239.1																																																																																				0.607	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1	NM_014994	
ZSCAN29	146050	broad.mit.edu	37	15	43653907	43653907	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr15:43653907T>G	ENST00000396976.2	-	5	2057	c.1923A>C	c.(1921-1923)caA>caC	p.Q641H	ZSCAN29_ENST00000568898.1_Missense_Mutation_p.Q251H|ZSCAN29_ENST00000562072.1_3'UTR|ZSCAN29_ENST00000396972.1_Missense_Mutation_p.Q252H	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN	zinc finger and SCAN domain containing 29	641					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		AAGGTCTCTGTTGACTTAGGA	0.473																																						uc001zrk.1																			0				skin(1)	1						c.(1921-1923)CAA>CAC		zinc finger protein 690							167.0	167.0	167.0					15																	43653907		2201	4299	6500	SO:0001583	missense	146050				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr15:43653907T>G	AF525399	CCDS10095.2	15q15.3	2013-01-08	2007-03-08	2007-03-08	ENSG00000140265	ENSG00000140265		"""-"", ""Zinc fingers, C2H2-type"""	26673	protein-coding gene	gene with protein product			"""zinc finger protein 690"""	ZNF690		12434312	Standard	NM_152455		Approved	FLJ35867, Zfp690	uc001zrk.1	Q8IWY8	OTTHUMG00000130767	ENST00000396976.2:c.1923A>C	15.37:g.43653907T>G	ENSP00000380174:p.Gln641His					ZSCAN29_uc001zrj.1_Missense_Mutation_p.Q521H|ZSCAN29_uc010bdf.1_3'UTR|ZSCAN29_uc001zrl.1_RNA|ZSCAN29_uc010bdg.1_Missense_Mutation_p.Q251H	p.Q641H	NM_152455	NP_689668	Q8IWY8	ZSC29_HUMAN		GBM - Glioblastoma multiforme(94;8.97e-07)	5	2070	-		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	641					B3KVB9|Q32M75|Q32M76|Q8NA40	Missense_Mutation	SNP	ENST00000396976.2	37	c.1923A>C	CCDS10095.2	.	.	.	.	.	.	.	.	.	.	T	0.005	-2.184923	0.00305	.	.	ENSG00000140265	ENST00000396976;ENST00000396972	T;T	0.08008	3.18;3.14	4.57	0.788	0.18601	.	0.331676	0.26844	N	0.022201	T	0.01222	0.0040	N	0.00185	-1.9	0.22081	N	0.999375	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.42515	-0.9447	10	0.02654	T	1	-0.0051	2.9861	0.05969	0.492:0.0:0.1827:0.3253	.	252;641	Q8IWY8-4;Q8IWY8	.;ZSC29_HUMAN	H	641;252	ENSP00000380174:Q641H;ENSP00000380170:Q252H	ENSP00000380170:Q252H	Q	-	3	2	ZSCAN29	41441199	0.997000	0.39634	0.377000	0.26055	0.413000	0.31143	0.872000	0.28037	0.021000	0.15133	-1.273000	0.01405	CAA		0.473	ZSCAN29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253278.1	NM_152455	
ADPGK	83440	broad.mit.edu	37	15	73044826	73044827	+	Frame_Shift_Ins	INS	-	-	T			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr15:73044826_73044827insT	ENST00000311669.8	-	7	1439_1440	c.1346_1347insA	c.(1345-1347)aagfs	p.K449fs	ADPGK_ENST00000456471.2_Frame_Shift_Ins_p.K175fs	NM_031284.4	NP_112574.3	Q9BRR6	ADPGK_HUMAN	ADP-dependent glucokinase	450	ADPK. {ECO:0000255|PROSITE- ProRule:PRU00584}.				glycolytic process (GO:0006096)	extracellular region (GO:0005576)|membrane (GO:0016020)	ADP-specific glucokinase activity (GO:0043843)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)	7						CTACTACTGGCTTGTTTGGGTT	0.49																																						uc002avg.3																			0					0						c.(1348-1350)AAGfs		ADP-dependent glucokinase																																				SO:0001589	frameshift_variant	83440				glycolysis	extracellular region	ADP-specific glucokinase activity|metal ion binding	g.chr15:73044826_73044827insT	AL136873	CCDS42057.1	15q24.1	2012-07-02			ENSG00000159322	ENSG00000159322			25250	protein-coding gene	gene with protein product		611861				11230166	Standard	NM_031284		Approved	DKFZp434B195, ADP-GK	uc002avf.4	Q9BRR6	OTTHUMG00000172777	ENST00000311669.8:c.1347dupA	15.37:g.73044828_73044828dupT	ENSP00000312250:p.Lys449fs					ADPGK_uc002ave.3_Frame_Shift_Ins_p.K175fs|ADPGK_uc010ukw.1_Frame_Shift_Ins_p.K392fs|ADPGK_uc002avf.3_Frame_Shift_Ins_p.K449fs|ADPGK_uc002avi.3_Frame_Shift_Ins_p.K327fs|ADPGK_uc002avh.3_Frame_Shift_Ins_p.K211fs	p.K450fs	NM_031284	NP_112574	Q9BRR6	ADPGK_HUMAN			7	1443_1444	-			450			ADPK.		Q49AU7|Q8NBI1|Q8WZ90|Q96NF8|Q9H0A7	Frame_Shift_Ins	INS	ENST00000311669.8	37	c.1349_1350insA	CCDS42057.1																																																																																				0.490	ADPGK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420434.1	NM_031284	
SSTR5	6755	broad.mit.edu	37	16	1129417	1129417	+	Silent	SNP	C	C	T	rs375313304	byFrequency	TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr16:1129417C>T	ENST00000293897.4	+	1	637	c.549C>T	c.(547-549)ggC>ggT	p.G183G	SSTR5-AS1_ENST00000569832.1_RNA|SSTR5_ENST00000397547.2_Silent_p.G183G|SSTR5_ENST00000562758.1_Silent_p.G183G	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN	somatostatin receptor 5	183					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cytokinesis (GO:0032467)|regulation of insulin secretion (GO:0050796)|somatostatin signaling pathway (GO:0038170)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)|Pasireotide(DB06663)|Vapreotide(DB04894)	TGCAGGAGGGCGGTACCTGCA	0.716													C|||	2	0.000399361	0.0015	0.0	5008	,	,		13414	0.0		0.0	False		,,,				2504	0.0					uc002ckq.2																			0				lung(1)	1						c.(547-549)GGC>GGT		somatostatin receptor 5	Octreotide(DB00104)	C	,	4,4340		0,4,2168	19.0	23.0	22.0		549,549	1.3	1.0	16		22	0,8558		0,0,4279	no	coding-synonymous,coding-synonymous	SSTR5	NM_001053.3,NM_001172560.1	,	0,4,6447	TT,TC,CC		0.0,0.0921,0.031	,	183/365,183/365	1129417	4,12898	2172	4279	6451	SO:0001819	synonymous_variant	6755				negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	g.chr16:1129417C>T	D16827	CCDS10429.1	16p13.3	2012-08-08			ENSG00000162009	ENSG00000162009		"""GPCR / Class A : Somatostatin receptors"""	11334	protein-coding gene	gene with protein product		182455				7607700	Standard	NM_001053		Approved		uc021taf.1	P35346	OTTHUMG00000047842	ENST00000293897.4:c.549C>T	16.37:g.1129417C>T						LOC146336_uc002cko.2_5'Flank|LOC146336_uc002ckp.1_5'Flank	p.G183G	NM_001053	NP_001044	P35346	SSR5_HUMAN			1	637	+		Hepatocellular(780;0.00369)	183			Extracellular (Potential).		P34988|Q541E0|Q9UJI5	Silent	SNP	ENST00000293897.4	37	c.549C>T	CCDS10429.1																																																																																				0.716	SSTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420836.1		
TMC5	79838	broad.mit.edu	37	16	19451842	19451842	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr16:19451842C>T	ENST00000396229.2	+	3	1231	c.482C>T	c.(481-483)cCg>cTg	p.P161L	TMC5_ENST00000541464.1_Missense_Mutation_p.P161L|TMC5_ENST00000381414.4_Missense_Mutation_p.P161L|TMC5_ENST00000542583.2_Missense_Mutation_p.P161L	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	161					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TCCTTAGAACCGGACTACCCT	0.478																																						uc002dgc.3																			0				skin(1)	1						c.(481-483)CCG>CTG		transmembrane channel-like 5 isoform a							168.0	162.0	164.0					16																	19451842		1916	4139	6055	SO:0001583	missense	79838					integral to membrane		g.chr16:19451842C>T	AY263164	CCDS10577.1, CCDS42126.1, CCDS45431.1	16p13.11	2008-02-05			ENSG00000103534	ENSG00000103534			22999	protein-coding gene	gene with protein product						12812529, 12906855	Standard	NM_024780		Approved	FLJ13593	uc010var.2	Q6UXY8	OTTHUMG00000131458	ENST00000396229.2:c.482C>T	16.37:g.19451842C>T	ENSP00000379531:p.Pro161Leu					TMC5_uc010vaq.1_Missense_Mutation_p.P161L|TMC5_uc002dgb.3_Missense_Mutation_p.P161L|TMC5_uc010var.1_Missense_Mutation_p.P161L	p.P161L	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN			3	1231	+			161			Extracellular (Potential).		Q68DK8|Q8IY20|Q8NHV6|Q9H8I7	Missense_Mutation	SNP	ENST00000396229.2	37	c.482C>T	CCDS45431.1	.	.	.	.	.	.	.	.	.	.	C	18.06	3.538642	0.65085	.	.	ENSG00000103534	ENST00000541464;ENST00000381414;ENST00000396229;ENST00000542583	D;T;D;D	0.81739	-1.53;-1.33;-1.52;-1.52	4.48	4.48	0.54585	.	2.559390	0.01345	N	0.011705	D	0.87728	0.6250	M	0.73962	2.25	0.44302	D	0.997175	D;D;D	0.64830	0.994;0.991;0.994	P;P;P	0.52066	0.689;0.492;0.689	T	0.78826	-0.2051	10	0.87932	D	0	-12.5511	12.9623	0.58466	0.0:1.0:0.0:0.0	.	161;161;161	F5GYU8;Q6UXY8;Q6UXY8-2	.;TMC5_HUMAN;.	L	161	ENSP00000441227:P161L;ENSP00000370822:P161L;ENSP00000379531:P161L;ENSP00000446274:P161L	ENSP00000370822:P161L	P	+	2	0	TMC5	19359343	0.988000	0.35896	0.999000	0.59377	0.762000	0.43233	3.018000	0.49625	2.779000	0.95612	0.591000	0.81541	CCG		0.478	TMC5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435888.1	NM_024780	
OTOA	146183	broad.mit.edu	37	16	21689852	21689852	+	Missense_Mutation	SNP	C	C	T	rs144912852		TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr16:21689852C>T	ENST00000286149.4	+	1	18	c.17C>T	c.(16-18)aCg>aTg	p.T6M	OTOA_ENST00000388958.3_Missense_Mutation_p.T6M			Q7RTW8	OTOAN_HUMAN	otoancorin	6					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		CAGGAACCTACGACATACTCC	0.373																																						uc002djh.2																			0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(16-18)ACG>ATG		otoancorin isoform 1		C	MET/THR	1,4397	2.1+/-5.4	0,1,2198	109.0	94.0	99.0		17	-1.0	0.0	16	dbSNP_134	99	0,8600		0,0,4300	no	missense	OTOA	NM_144672.3	81	0,1,6498	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	6/1140	21689852	1,12997	2199	4300	6499	SO:0001583	missense	146183				sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix		g.chr16:21689852C>T	AK057335	CCDS10600.2, CCDS32403.1, CCDS53994.1	16p12.2	2009-08-18	2002-07-05		ENSG00000155719	ENSG00000155719			16378	protein-coding gene	gene with protein product	"""cancer/testis antigen 108"""	607038	"""deafness, autosomal recessive 22"""	DFNB22		11972037, 19088187	Standard	NM_170664		Approved	CT108	uc002djh.3	Q7RTW8	OTTHUMG00000090721	ENST00000286149.4:c.17C>T	16.37:g.21689852C>T	ENSP00000286149:p.Thr6Met					uc002diq.3_Intron	p.T6M	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN		GBM - Glioblastoma multiforme(48;0.0414)	1	18	+			6					A1L3A8|A2VDI0|B3KWU3|E9PF51|Q8NA86|Q96M76	Missense_Mutation	SNP	ENST00000286149.4	37	c.17C>T		.	.	.	.	.	.	.	.	.	.	C	7.347	0.622176	0.14193	2.27E-4	0.0	ENSG00000155719	ENST00000388958;ENST00000286149	T;T	0.64085	-0.08;-0.08	5.77	-1.03	0.10102	.	0.513347	0.20429	N	0.092515	T	0.36386	0.0965	N	0.08118	0	0.09310	N	1	B	0.23540	0.087	B	0.14023	0.01	T	0.20739	-1.0266	10	0.56958	D	0.05	-0.399	9.9341	0.41541	0.0:0.1487:0.5597:0.2916	.	6	E9PF51	.	M	6	ENSP00000373610:T6M;ENSP00000286149:T6M	ENSP00000286149:T6M	T	+	2	0	OTOA	21597353	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.319000	0.19522	-0.386000	0.07821	-1.595000	0.00837	ACG		0.373	OTOA-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000430021.1		
GTF3C1	2975	broad.mit.edu	37	16	27518426	27518426	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr16:27518426C>T	ENST00000356183.4	-	9	1309	c.1294G>A	c.(1294-1296)Gtg>Atg	p.V432M	GTF3C1_ENST00000561623.1_Missense_Mutation_p.V432M	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	432					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						TCTGCAAACACGCAGGAAATG	0.552																																						uc002dov.1																			0				ovary(2)|pancreas(1)|breast(1)|skin(1)	5						c.(1294-1296)GTG>ATG		general transcription factor IIIC, polypeptide							72.0	68.0	69.0					16																	27518426		2197	4300	6497	SO:0001583	missense	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27518426C>T	U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.1294G>A	16.37:g.27518426C>T	ENSP00000348510:p.Val432Met					GTF3C1_uc002dou.2_Missense_Mutation_p.V432M	p.V432M	NM_001520	NP_001511	Q12789	TF3C1_HUMAN			9	1334	-			432					B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	ENST00000356183.4	37	c.1294G>A	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	C	19.16	3.774168	0.69992	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.24350	1.86	4.92	4.92	0.64577	.	0.461117	0.22819	N	0.055246	T	0.29716	0.0742	N	0.24115	0.695	0.27791	N	0.942811	D;D	0.65815	0.991;0.995	P;P	0.56700	0.488;0.804	T	0.06789	-1.0807	10	0.49607	T	0.09	-5.5094	12.5806	0.56388	0.0:0.9177:0.0:0.0823	.	432;432	Q12789;Q12789-3	TF3C1_HUMAN;.	M	432;430	ENSP00000348510:V432M	ENSP00000348510:V432M	V	-	1	0	GTF3C1	27425927	0.992000	0.36948	0.980000	0.43619	0.986000	0.74619	3.231000	0.51294	2.282000	0.76494	0.650000	0.86243	GTG		0.552	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520	
MFSD6L	162387	broad.mit.edu	37	17	8701786	8701786	+	Missense_Mutation	SNP	C	C	A	rs372535656		TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr17:8701786C>A	ENST00000329805.4	-	1	881	c.653G>T	c.(652-654)gGg>gTg	p.G218V		NM_152599.3	NP_689812.3	Q8IWD5	MFS6L_HUMAN	major facilitator superfamily domain containing 6-like	218						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						ATTCCCGGGCCCTTTCCCCCC	0.577																																						uc002glp.1																			0				central_nervous_system(1)	1						c.(652-654)GGG>GTG		major facilitator superfamily domain containing							64.0	72.0	69.0					17																	8701786		2203	4300	6503	SO:0001583	missense	162387					integral to membrane		g.chr17:8701786C>A	AK093092	CCDS11146.1	17p13.1	2014-05-30			ENSG00000185156	ENSG00000185156			26656	protein-coding gene	gene with protein product							Standard	NM_152599		Approved	FLJ35773	uc002glp.2	Q8IWD5	OTTHUMG00000178584	ENST00000329805.4:c.653G>T	17.37:g.8701786C>A	ENSP00000330051:p.Gly218Val						p.G218V	NM_152599	NP_689812	Q8IWD5	MFS6L_HUMAN			1	801	-			218					Q6YL34|Q8NA76	Missense_Mutation	SNP	ENST00000329805.4	37	c.653G>T	CCDS11146.1	.	.	.	.	.	.	.	.	.	.	C	11.10	1.539451	0.27475	.	.	ENSG00000185156	ENST00000329805	T	0.42900	0.96	4.86	-9.59	0.00556	.	1.606170	0.03997	N	0.295881	T	0.18759	0.0450	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.11329	0.006	T	0.16778	-1.0391	10	0.12766	T	0.61	-5.8799	1.1135	0.01709	0.2309:0.2433:0.1107:0.415	.	218	Q8IWD5	MFS6L_HUMAN	V	218	ENSP00000330051:G218V	ENSP00000330051:G218V	G	-	2	0	MFSD6L	8642511	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.814000	0.04486	-2.183000	0.00763	-0.165000	0.13383	GGG		0.577	MFSD6L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442554.1	NM_152599	
UNC45B	146862	broad.mit.edu	37	17	33504108	33504108	+	Missense_Mutation	SNP	G	G	A	rs543327883		TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr17:33504108G>A	ENST00000268876.5	+	16	2201	c.2104G>A	c.(2104-2106)Gct>Act	p.A702T	UNC45B_ENST00000433649.1_Missense_Mutation_p.A700T|UNC45B_ENST00000394570.2_Missense_Mutation_p.A700T|UNC45B_ENST00000378449.1_Missense_Mutation_p.A621T|UNC45B_ENST00000591048.1_Missense_Mutation_p.A621T	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	702					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				AGCAAAGATCGCTGCTGTCTC	0.572													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19109	0.0		0.0	False		,,,				2504	0.0					uc002hja.2																			0				ovary(3)|central_nervous_system(2)|breast(1)	6						c.(2104-2106)GCT>ACT		cardiomyopathy associated 4 isoform 1							131.0	102.0	112.0					17																	33504108		2203	4300	6503	SO:0001583	missense	146862				cell differentiation|muscle organ development	cytosol	binding	g.chr17:33504108G>A	AW755253	CCDS11292.1, CCDS45648.1	17q12	2008-02-05	2005-11-17	2005-11-17	ENSG00000141161	ENSG00000141161			14304	protein-coding gene	gene with protein product		611220	"""cardiomyopathy associated 4"""	CMYA4		12356907	Standard	NM_001267052		Approved	UNC45	uc002hja.3	Q8IWX7	OTTHUMG00000132931	ENST00000268876.5:c.2104G>A	17.37:g.33504108G>A	ENSP00000268876:p.Ala702Thr					UNC45B_uc002hjb.2_Missense_Mutation_p.A700T|UNC45B_uc002hjc.2_Missense_Mutation_p.A700T|UNC45B_uc010cto.2_Missense_Mutation_p.A621T	p.A702T	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN			16	2201	+		Ovarian(249;0.17)	702					Q495Q8|Q495Q9	Missense_Mutation	SNP	ENST00000268876.5	37	c.2104G>A	CCDS11292.1	.	.	.	.	.	.	.	.	.	.	G	13.61	2.289464	0.40494	.	.	ENSG00000141161	ENST00000394570;ENST00000268876;ENST00000433649;ENST00000378449	T;T;T	0.54071	0.59;3.07;0.59	5.08	5.08	0.68730	Armadillo-like helical (1);Armadillo-type fold (1);	0.048864	0.85682	D	0.000000	T	0.34861	0.0912	N	0.13098	0.295	0.50313	D	0.999867	P;B;B	0.35527	0.507;0.046;0.027	B;B;B	0.28465	0.09;0.02;0.013	T	0.17745	-1.0359	10	0.30078	T	0.28	-13.2879	18.0106	0.89222	0.0:0.0:1.0:0.0	.	621;700;702	Q8IWX7-2;Q8IWX7-3;Q8IWX7	.;.;UN45B_HUMAN	T	702;702;700;621	ENSP00000268876:A702T;ENSP00000412840:A700T;ENSP00000367710:A621T	ENSP00000268876:A702T	A	+	1	0	UNC45B	30528221	1.000000	0.71417	0.936000	0.37596	0.958000	0.62258	4.048000	0.57390	2.814000	0.96858	0.563000	0.77884	GCT		0.572	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256458.2	NM_173167	
SCN4A	6329	broad.mit.edu	37	17	62025418	62025418	+	Silent	SNP	G	G	A	rs536963836		TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr17:62025418G>A	ENST00000435607.1	-	17	3226	c.3150C>T	c.(3148-3150)ttC>ttT	p.F1050F	SCN4A_ENST00000578147.1_Silent_p.F1050F	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1050					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AGATGTCCTCGAAGGCCTGGG	0.602													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19757	0.0		0.0	False		,,,				2504	0.0					uc002jds.1																			0				ovary(1)|pancreas(1)|skin(1)	3						c.(3148-3150)TTC>TTT		voltage-gated sodium channel type 4 alpha	Lamotrigine(DB00555)						58.0	56.0	57.0					17																	62025418		2053	4216	6269	SO:0001819	synonymous_variant	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62025418G>A	U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.3150C>T	17.37:g.62025418G>A							p.F1050F	NM_000334	NP_000325	P35499	SCN4A_HUMAN			17	3227	-			1050			III.		Q15478|Q16447|Q7Z6B1	Silent	SNP	ENST00000435607.1	37	c.3150C>T	CCDS45761.1																																																																																				0.602	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334	
CEP131	22994	broad.mit.edu	37	17	79170626	79170626	+	Splice_Site	SNP	C	C	T			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr17:79170626C>T	ENST00000269392.4	-	15	2030	c.1783G>A	c.(1783-1785)Gcg>Acg	p.A595T	AZI1_ENST00000570482.2_5'Flank|AZI1_ENST00000450824.2_Splice_Site_p.A592T|AZI1_ENST00000575907.1_Splice_Site_p.A595T|RP11-455O6.2_ENST00000571085.1_RNA|AZI1_ENST00000374782.3_Splice_Site_p.A592T	NM_014984.2	NP_055799.2	Q9UPN4	CP131_HUMAN		595					cell differentiation (GO:0030154)|G2/M transition of mitotic cell cycle (GO:0000086)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular protein transport (GO:0090316)|regulation of centrosome duplication (GO:0010824)|spermatogenesis (GO:0007283)	BBSome (GO:0034464)|cell projection (GO:0042995)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CGCTGCTGCGCCTGCAGGGTG	0.687																																						uc002jzp.1																			0				central_nervous_system(2)|large_intestine(1)|ovary(1)	4						c.(1783-1785)GCG>ACG		5-azacytidine induced 1 isoform a							26.0	24.0	25.0					17																	79170626		2183	4289	6472	SO:0001630	splice_region_variant	22994				cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle		g.chr17:79170626C>T																												ENST00000269392.4:c.1783-1G>A	17.37:g.79170626C>T						AZI1_uc002jzm.1_Missense_Mutation_p.A22T|AZI1_uc002jzn.1_Missense_Mutation_p.A592T|AZI1_uc002jzo.1_Missense_Mutation_p.A592T|AZI1_uc010wum.1_Missense_Mutation_p.A595T|AZI1_uc002jzq.2_5'Flank	p.A595T	NM_014984	NP_055799	Q9UPN4	AZI1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)		15	1983	-	all_neural(118;0.0804)|Melanoma(429;0.242)		595					A6NHI8|B2RN11|Q96F50	Missense_Mutation	SNP	ENST00000269392.4	37	c.1783G>A		.	.	.	.	.	.	.	.	.	.	C	17.49	3.402202	0.62288	.	.	ENSG00000141577	ENST00000450824;ENST00000374782;ENST00000269392	T;T;T	0.33216	1.42;1.42;1.42	4.8	3.82	0.43975	.	0.121669	0.56097	D	0.000038	T	0.36826	0.0981	M	0.66939	2.045	0.51767	D	0.999931	P;B;P;P	0.48350	0.525;0.27;0.909;0.763	B;B;P;B	0.47705	0.25;0.151;0.555;0.288	T	0.12477	-1.0546	10	0.31617	T	0.26	-8.9297	10.5786	0.45242	0.0:0.837:0.0:0.163	.	592;595;592;592	B2RN10;Q9UPN4;Q9UPN4-3;Q9UPN4-2	.;AZI1_HUMAN;.;.	T	592;592;595	ENSP00000393583:A592T;ENSP00000363914:A592T;ENSP00000269392:A595T	ENSP00000269392:A595T	A	-	1	0	AZI1	76785221	1.000000	0.71417	0.974000	0.42286	0.502000	0.33828	2.780000	0.47742	1.235000	0.43724	0.313000	0.20887	GCG		0.687	AZI1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000256070.1		Missense_Mutation
LAMA3	3909	broad.mit.edu	37	18	21511088	21511089	+	Frame_Shift_Ins	INS	-	-	G	rs1154233		TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr18:21511088_21511089insG	ENST00000313654.9	+	65	8740_8741	c.8499_8500insG	c.(8500-8502)agcfs	p.S2834fs	LAMA3_ENST00000399516.3_Frame_Shift_Ins_p.S2778fs|LAMA3_ENST00000269217.6_Frame_Shift_Ins_p.S1225fs|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Frame_Shift_Ins_p.S1169fs	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2834	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.		S -> G (in dbSNP:rs1154233). {ECO:0000269|PubMed:15044476, ECO:0000269|PubMed:8077230, ECO:0000269|Ref.6}.		cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					GCGATAGCGGCAGCCCAATTTT	0.411																																						uc002kuq.2																			0				ovary(8)|skin(2)|central_nervous_system(1)	11						c.(8497-8502)GGCAGCfs		laminin alpha 3 subunit isoform 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)																																			SO:0001589	frameshift_variant	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21511088_21511089insG	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	Exception_encountered	18.37:g.21511088_21511089insG	ENSP00000324532:p.Ser2834fs					LAMA3_uc002kur.2_Frame_Shift_Ins_p.G2777fs|LAMA3_uc002kus.3_Frame_Shift_Ins_p.G1224fs|LAMA3_uc002kut.3_Frame_Shift_Ins_p.G1168fs	p.G2833fs	NM_198129	NP_937762	Q16787	LAMA3_HUMAN			65	8585_8586	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		2833_2834			Laminin G-like 3.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Frame_Shift_Ins	INS	ENST00000313654.9	37	c.8499_8500insG	CCDS42419.1																																																																																				0.411	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129	
CNN2	1265	broad.mit.edu	37	19	1037646	1037646	+	Frame_Shift_Del	DEL	C	C	-	rs371146424		TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr19:1037646delC	ENST00000263097.4	+	7	1040	c.677delC	c.(676-678)accfs	p.T226fs	ABCA7_ENST00000263094.6_5'Flank|CNN2_ENST00000562958.2_Frame_Shift_Del_p.T247fs|CNN2_ENST00000606983.1_3'UTR|AC011558.5_ENST00000585757.1_RNA|CNN2_ENST00000565096.2_Frame_Shift_Del_p.T215fs|CNN2_ENST00000348419.3_Frame_Shift_Del_p.T187fs	NM_004368.2	NP_004359.1	Q99439	CNN2_HUMAN	calponin 2	226					actomyosin structure organization (GO:0031032)|cellular response to mechanical stimulus (GO:0071260)|cytoskeleton organization (GO:0007010)|hemopoiesis (GO:0030097)|negative regulation of cell migration (GO:0030336)|negative regulation of phagocytosis (GO:0050765)|positive regulation of gene expression (GO:0010628)|regulation of actin filament-based process (GO:0032970)|regulation of cell proliferation (GO:0042127)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|stress fiber (GO:0001725)	actin binding (GO:0003779)			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTCCCGGGACCCGGCGGCAC	0.632																																						uc002lqu.2																			0					0						c.(676-678)ACCfs		calponin 2 isoform a			,	229,3873		14,201,1836	77.0	90.0	86.0		,	4.3	1.0	19		87	311,7625		16,279,3673	no	frameshift,frameshift	CNN2	NM_201277.1,NM_004368.2	,	30,480,5509	A1A1,A1R,RR		3.9189,5.5826,4.4858	,	,	1037646	540,11498	2119	4148	6267	SO:0001589	frameshift_variant	1265				actomyosin structure organization|cellular response to mechanical stimulus|regulation of actin filament-based process	cell-cell junction|stress fiber	actin binding|calmodulin binding	g.chr19:1037646delC	D83735	CCDS12053.1, CCDS12054.1	19p13.3	2011-02-18			ENSG00000064666	ENSG00000064666			2156	protein-coding gene	gene with protein product		602373				8889829	Standard	NM_004368		Approved		uc002lqu.3	Q99439		ENST00000263097.4:c.677delC	19.37:g.1037646delC	ENSP00000263097:p.Thr226fs					ABCA7_uc002lqw.3_5'Flank|CNN2_uc002lqv.2_Frame_Shift_Del_p.T187fs|CNN2_uc010xgb.1_Frame_Shift_Del_p.T215fs|CNN2_uc010xgc.1_Frame_Shift_Del_p.T247fs|ABCA7_uc010dsa.2_5'Flank	p.T226fs	NM_004368	NP_004359	Q99439	CNN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	7	1040	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	226			Calponin-like 2.		A5D8U8|A6NFI4|D6W5X9|Q92578	Frame_Shift_Del	DEL	ENST00000263097.4	37	c.677delC	CCDS12053.1																																																																																				0.632	CNN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420293.3	NM_004368	
FBN3	84467	broad.mit.edu	37	19	8162272	8162272	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr19:8162272C>T	ENST00000600128.1	-	42	5602	c.5188G>A	c.(5188-5190)Gcc>Acc	p.A1730T	FBN3_ENST00000270509.2_Missense_Mutation_p.A1730T|FBN3_ENST00000601739.1_Missense_Mutation_p.A1730T			Q75N90	FBN3_HUMAN	fibrillin 3	1730	EGF-like 26; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GCACAGATGGCGGGGATCTCC	0.597																																						uc002mjf.2																			0				ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						c.(5188-5190)GCC>ACC		fibrillin 3 precursor							45.0	37.0	40.0					19																	8162272		2203	4300	6503	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8162272C>T		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.5188G>A	19.37:g.8162272C>T	ENSP00000470498:p.Ala1730Thr						p.A1730T	NM_032447	NP_115823	Q75N90	FBN3_HUMAN			41	5209	-			1730			EGF-like 26; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.5188G>A	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	C	13.53	2.265896	0.40095	.	.	ENSG00000142449	ENST00000270509	D	0.92249	-3.0	3.81	2.77	0.32553	Matrix fibril-associated (1);EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.133956	0.49916	N	0.000134	D	0.85535	0.5719	N	0.02420	-0.555	0.36887	D	0.889677	D	0.76494	0.999	P	0.62740	0.906	T	0.81709	-0.0809	10	0.09590	T	0.72	.	11.2859	0.49222	0.0:0.91:0.0:0.09	.	1730	Q75N90	FBN3_HUMAN	T	1730	ENSP00000270509:A1730T	ENSP00000270509:A1730T	A	-	1	0	FBN3	8068272	0.001000	0.12720	0.017000	0.16124	0.072000	0.16883	1.309000	0.33539	0.802000	0.34089	-0.258000	0.10820	GCC		0.597	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447	
UNC13A	23025	broad.mit.edu	37	19	17769035	17769035	+	Nonsense_Mutation	SNP	G	G	T			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr19:17769035G>T	ENST00000519716.2	-	9	602	c.603C>A	c.(601-603)taC>taA	p.Y201*	UNC13A_ENST00000551649.1_Nonsense_Mutation_p.Y201*|UNC13A_ENST00000550896.1_Nonsense_Mutation_p.Y201*|UNC13A_ENST00000552293.1_Nonsense_Mutation_p.Y201*|UNC13A_ENST00000428389.2_Nonsense_Mutation_p.Y289*|UNC13A_ENST00000252773.7_Nonsense_Mutation_p.Y201*	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	201					beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)	p.Y289*(1)|p.Y201*(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						TTTCACTGCGGTAGTCACTGT	0.562																																						uc002nhd.2																			2	Substitution - Nonsense(2)		endometrium(2)	ovary(3)	3						c.(865-867)TAC>TAA		unc-13 homolog A							106.0	109.0	108.0					19																	17769035		2129	4248	6377	SO:0001587	stop_gained	23025				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr19:17769035G>T	AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.603C>A	19.37:g.17769035G>T	ENSP00000429562:p.Tyr201*						p.Y289*	NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN			10	867	-			201					E5RHY9	Nonsense_Mutation	SNP	ENST00000519716.2	37	c.867C>A	CCDS46013.2	.	.	.	.	.	.	.	.	.	.	G	34	5.343802	0.95807	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	.	.	.	4.63	-2.9	0.05648	.	0.000000	0.64402	U	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.0164	9.6982	0.40169	0.581:0.0:0.419:0.0	.	.	.	.	X	201;289;201;201;201;201	.	ENSP00000252773:Y201X	Y	-	3	2	UNC13A	17630035	1.000000	0.71417	0.995000	0.50966	0.975000	0.68041	0.645000	0.24782	-0.218000	0.10018	0.484000	0.47621	TAC		0.562	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604	
LRP3	4037	broad.mit.edu	37	19	33695616	33695616	+	Silent	SNP	A	A	C			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr19:33695616A>C	ENST00000253193.7	+	4	535	c.333A>C	c.(331-333)ccA>ccC	p.P111P	CTD-2540B15.13_ENST00000609744.1_RNA	NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	111	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)		p.P111P(1)		breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					CAGCAGCCCCACCCCGCCAGG	0.662																																						uc010edh.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(2)|ovary(1)	3						c.(331-333)CCA>CCC		low density lipoprotein receptor-related protein							56.0	59.0	58.0					19																	33695616		2203	4299	6502	SO:0001819	synonymous_variant	4037				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity	g.chr19:33695616A>C	AB009462	CCDS12430.1	19q13.11	2013-05-30			ENSG00000130881	ENSG00000130881		"""Low density lipoprotein receptors"""	6695	protein-coding gene	gene with protein product		603159				9693042, 7959795	Standard	NM_002333		Approved	LRP-3, hLRp105	uc010edh.3	O75074	OTTHUMG00000180343	ENST00000253193.7:c.333A>C	19.37:g.33695616A>C						LRP3_uc010xrp.1_5'UTR|LRP3_uc002nuk.3_5'UTR	p.P111P	NM_002333	NP_002324	O75074	LRP3_HUMAN			4	426	+	Esophageal squamous(110;0.137)		111			Extracellular (Potential).|CUB 1.		B3KQD6|B4DKF2	Silent	SNP	ENST00000253193.7	37	c.333A>C	CCDS12430.1																																																																																				0.662	LRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450842.4		
MAG	4099	broad.mit.edu	37	19	35793483	35793483	+	Missense_Mutation	SNP	C	C	T	rs144554089	byFrequency	TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr19:35793483C>T	ENST00000392213.3	+	7	1262	c.1103C>T	c.(1102-1104)aCg>aTg	p.T368M	MAG_ENST00000361922.4_Missense_Mutation_p.T368M|MAG_ENST00000537831.2_Missense_Mutation_p.T343M	NM_002361.3	NP_002352.1	P20916	MAG_HUMAN	myelin associated glycoprotein	368	Ig-like C2-type 3.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)|substantia nigra development (GO:0021762)	integral component of membrane (GO:0016021)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)	carbohydrate binding (GO:0030246)	p.T368M(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			ATCCTGTCCACGGTCATCTAC	0.582																																						uc002nyy.1																			1	Substitution - Missense(1)	p.T368M(1)	central_nervous_system(1)	breast(3)|lung(2)|central_nervous_system(1)|skin(1)	7						c.(1102-1104)ACG>ATG		myelin associated glycoprotein isoform a		C	MET/THR,MET/THR,MET/THR	0,4406		0,0,2203	118.0	98.0	105.0		1028,1103,1103	5.1	1.0	19	dbSNP_134	105	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense	MAG	NM_001199216.1,NM_002361.3,NM_080600.2	81,81,81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	343/602,368/627,368/583	35793483	1,13005	2203	4300	6503	SO:0001583	missense	4099				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding	g.chr19:35793483C>T	M29273	CCDS12455.1, CCDS12456.1, CCDS56090.1	19q13.1	2013-01-29			ENSG00000105695	ENSG00000105695		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6783	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 4A"""	159460		GMA		2476987, 8432525	Standard	NM_080600		Approved	SIGLEC4A, SIGLEC-4A, S-MAG	uc002nyy.2	P20916		ENST00000392213.3:c.1103C>T	19.37:g.35793483C>T	ENSP00000376048:p.Thr368Met					MAG_uc002nyx.1_Missense_Mutation_p.T368M|MAG_uc010eds.1_Missense_Mutation_p.T343M|MAG_uc002nyz.1_Missense_Mutation_p.T368M	p.T368M	NM_002361	NP_002352	P20916	MAG_HUMAN	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		7	1252	+	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	368			Ig-like C2-type 3.|Extracellular (Potential).		B7Z2E5|F5GYC0|Q567S4	Missense_Mutation	SNP	ENST00000392213.3	37	c.1103C>T	CCDS12455.1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.417695	0.42918	0.0	1.16E-4	ENSG00000105695	ENST00000262624;ENST00000361922;ENST00000392213;ENST00000537831	T;T;T	0.78246	-1.16;-1.16;-1.16	5.14	5.14	0.70334	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.053759	0.64402	D	0.000001	D	0.83055	0.5171	L	0.39898	1.24	0.58432	D	0.999998	D;D;P	0.89917	1.0;0.974;0.945	D;B;B	0.72075	0.976;0.36;0.378	T	0.83314	-0.0021	10	0.46703	T	0.11	.	16.0851	0.81042	0.0:1.0:0.0:0.0	.	405;368;368	Q59GD9;P20916;Q567S4	.;MAG_HUMAN;.	M	405;368;368;343	ENSP00000355234:T368M;ENSP00000376048:T368M;ENSP00000440695:T343M	ENSP00000262624:T405M	T	+	2	0	MAG	40485323	0.999000	0.42202	0.994000	0.49952	0.211000	0.24417	4.169000	0.58223	2.381000	0.81170	0.455000	0.32223	ACG		0.582	MAG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000466071.1	NM_080600	
RYR1	6261	broad.mit.edu	37	19	38958338	38958338	+	Silent	SNP	C	C	T			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr19:38958338C>T	ENST00000359596.3	+	25	3267	c.3267C>T	c.(3265-3267)ttC>ttT	p.F1089F	RYR1_ENST00000360985.3_Silent_p.F1089F|RYR1_ENST00000355481.4_Silent_p.F1089F			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1089	6 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GCTGGTACTTCGAGTTTGAAG	0.592																																						uc002oit.2																			0				ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12						c.(3265-3267)TTC>TTT		skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)						93.0	83.0	86.0					19																	38958338		2203	4300	6503	SO:0001819	synonymous_variant	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38958338C>T	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.3267C>T	19.37:g.38958338C>T						RYR1_uc002oiu.2_Silent_p.F1089F	p.F1089F	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		25	3397	+	all_cancers(60;7.91e-06)		1089			6 X approximate repeats.|Cytoplasmic.|B30.2/SPRY 2.		Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	c.3267C>T	CCDS33011.1																																																																																				0.592	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1		
CYP2S1	29785	broad.mit.edu	37	19	41700569	41700569	+	Missense_Mutation	SNP	G	G	A	rs199728850		TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr19:41700569G>A	ENST00000310054.4	+	2	514	c.298G>A	c.(298-300)Ggc>Agc	p.G100S	CYP2S1_ENST00000542619.1_5'UTR	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN	cytochrome P450, family 2, subfamily S, polypeptide 1	100					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.G100S(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						GGAGTTCAGCGGCCGGGGAAC	0.637																																						uc002opw.2																			1	Substitution - Missense(1)		large_intestine(1)	skin(1)	1						c.(298-300)GGC>AGC		cytochrome P450, family 2, subfamily S,							130.0	107.0	115.0					19																	41700569		2203	4300	6503	SO:0001583	missense	29785				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity	g.chr19:41700569G>A	AA301039	CCDS12573.1	19q13.2	2013-11-11	2003-01-14		ENSG00000167600	ENSG00000167600		"""Cytochrome P450s"""	15654	protein-coding gene	gene with protein product		611529	"""cytochrome P450, subfamily IIS, polypeptide 1"""			11181079	Standard	NM_030622		Approved		uc002opw.3	Q96SQ9	OTTHUMG00000182721	ENST00000310054.4:c.298G>A	19.37:g.41700569G>A	ENSP00000308032:p.Gly100Ser					CYP2F1_uc010xvw.1_Intron|CYP2S1_uc010xvx.1_5'UTR	p.G100S	NM_030622	NP_085125	Q96SQ9	CP2S1_HUMAN			2	353	+			100					Q9BZ66	Missense_Mutation	SNP	ENST00000310054.4	37	c.298G>A	CCDS12573.1	.	.	.	.	.	.	.	.	.	.	G	19.08	3.757791	0.69648	.	.	ENSG00000167600	ENST00000301173;ENST00000310054	T	0.01221	5.15	4.27	4.27	0.50696	.	0.213258	0.38272	N	0.001743	T	0.05731	0.0150	L	0.49455	1.56	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.35674	-0.9779	10	0.62326	D	0.03	.	14.3115	0.66419	0.0:0.0:1.0:0.0	.	100	Q96SQ9	CP2S1_HUMAN	S	100	ENSP00000308032:G100S	ENSP00000301173:G100S	G	+	1	0	CYP2S1	46392409	1.000000	0.71417	0.928000	0.36995	0.061000	0.15899	7.558000	0.82253	2.249000	0.74217	0.485000	0.47835	GGC		0.637	CYP2S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463287.1		
SCAF1	58506	broad.mit.edu	37	19	50157645	50157645	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr19:50157645C>T	ENST00000360565.3	+	8	3480	c.3356C>T	c.(3355-3357)gCg>gTg	p.A1119V		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	1119					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		GCCAACCTGGCGAGCCGAGCG	0.607																																						uc002poq.2																			0					0						c.(3355-3357)GCG>GTG		SR-related CTD-associated factor 1							30.0	29.0	29.0					19																	50157645		2201	4296	6497	SO:0001583	missense	58506				mRNA processing|RNA splicing	nucleus	RNA binding	g.chr19:50157645C>T	AK024444	CCDS33074.1	19q13.3-q13.4	2011-01-10			ENSG00000126461	ENSG00000126461			30403	protein-coding gene	gene with protein product						11461075	Standard	NM_021228		Approved	SR-A1, FLJ00034	uc002poq.3	Q9H7N4		ENST00000360565.3:c.3356C>T	19.37:g.50157645C>T	ENSP00000353769:p.Ala1119Val						p.A1119V	NM_021228	NP_067051	Q9H7N4	SFR19_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)	8	3480	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)	1119					Q7Z5V7|Q8WVA1|Q9NR59	Missense_Mutation	SNP	ENST00000360565.3	37	c.3356C>T	CCDS33074.1	.	.	.	.	.	.	.	.	.	.	c	21.9	4.216900	0.79352	.	.	ENSG00000126461	ENST00000360565	T	0.50277	0.75	5.1	5.1	0.69264	.	0.000000	0.45606	D	0.000360	T	0.57710	0.2072	L	0.27053	0.805	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	T	0.60929	-0.7165	10	0.62326	D	0.03	-24.0877	17.4355	0.87550	0.0:1.0:0.0:0.0	.	1119	Q9H7N4	SFR19_HUMAN	V	1119	ENSP00000353769:A1119V	ENSP00000353769:A1119V	A	+	2	0	SCAF1	54849457	1.000000	0.71417	0.967000	0.41034	0.913000	0.54294	6.235000	0.72332	2.651000	0.90000	0.651000	0.88453	GCG		0.607	SCAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465764.1	NM_021228	
NLRP13	126204	broad.mit.edu	37	19	56424553	56424553	+	Silent	SNP	G	G	A	rs371490465		TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr19:56424553G>A	ENST00000342929.3	-	5	629	c.630C>T	c.(628-630)gaC>gaT	p.D210D	NLRP13_ENST00000588751.1_Silent_p.D210D	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	210							ATP binding (GO:0005524)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CCTCATGTTCGTCCTTTGATG	0.498													G|||	1	0.000199681	0.0	0.0	5008	,	,		18036	0.001		0.0	False		,,,				2504	0.0					uc010ygg.1																			0				skin(4)|ovary(3)|pancreas(1)|lung(1)	9						c.(628-630)GAC>GAT		NACHT, leucine rich repeat and PYD containing							166.0	173.0	170.0					19																	56424553		2203	4300	6503	SO:0001819	synonymous_variant	126204						ATP binding	g.chr19:56424553G>A	AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"""Nucleotide-binding domain and leucine rich repeat containing"""	22937	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"""	609660	"""NACHT, leucine rich repeat and PYD containing 13"""	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.630C>T	19.37:g.56424553G>A							p.D210D	NM_176810	NP_789780	Q86W25	NAL13_HUMAN		GBM - Glioblastoma multiforme(193;0.0642)	5	655	-		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)	210					Q7RTR5	Silent	SNP	ENST00000342929.3	37	c.630C>T	CCDS33119.1																																																																																				0.498	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810	
XDH	7498	broad.mit.edu	37	2	31595165	31595165	+	Silent	SNP	G	G	A	rs140066757		TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr2:31595165G>A	ENST00000379416.3	-	17	1833	c.1785C>T	c.(1783-1785)gaC>gaT	p.D595D		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	595					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	GAGGAATGTCGTCACAGTACA	0.647													G|||	1	0.000199681	0.0	0.0	5008	,	,		18887	0.001		0.0	False		,,,				2504	0.0				Colon(66;682 1445 30109 40147)	uc002rnv.1																			0				skin(4)|breast(2)|ovary(1)|central_nervous_system(1)	8						c.(1783-1785)GAC>GAT		xanthine dehydrogenase	Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	G		0,4406		0,0,2203	121.0	124.0	123.0		1785	-7.1	0.8	2	dbSNP_134	123	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	XDH	NM_000379.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		595/1334	31595165	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7498				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	g.chr2:31595165G>A	D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"""xanthene dehydrogenase"""			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.1785C>T	2.37:g.31595165G>A							p.D595D	NM_000379	NP_000370	P47989	XDH_HUMAN			17	1864	-	Acute lymphoblastic leukemia(172;0.155)		595					Q16681|Q16712|Q4PJ16	Silent	SNP	ENST00000379416.3	37	c.1785C>T	CCDS1775.1																																																																																				0.647	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	NM_000379	
STRN	6801	broad.mit.edu	37	2	37121134	37121153	+	Frame_Shift_Del	DEL	CTCGATCTTCACCGCTGTCA	CTCGATCTTCACCGCTGTCA	-			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr2:37121134_37121153delCTCGATCTTCACCGCTGTCA	ENST00000263918.4	-	7	827_846	c.819_838delTGACAGCGGTGAAGATCGAG	c.(817-840)cctgacagcggtgaagatcgagatfs	p.DSGEDRD274fs	STRN_ENST00000379213.2_Frame_Shift_Del_p.DSGEDRD262fs	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN	striatin, calmodulin binding protein	274					dendrite development (GO:0016358)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|tight junction assembly (GO:0070830)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|estrogen receptor binding (GO:0030331)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)	p.D274E(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				TCTTTTGTATCTCGATCTTCACCGCTGTCAGGCAATGCTT	0.368																																						uc002rpn.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(817-840)CCTGACAGCGGTGAAGATCGAGATfs		striatin, calmodulin binding protein																																				SO:0001589	frameshift_variant	6801				dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding	g.chr2:37121134_37121153delCTCGATCTTCACCGCTGTCA	AJ223814	CCDS1784.1	2p22.2	2013-01-10	2001-11-28		ENSG00000115808	ENSG00000115808		"""WD repeat domain containing"""	11424	protein-coding gene	gene with protein product		614765	"""striatin, calmodulin-binding protein"""			9693043, 8769426	Standard	NM_003162		Approved	SG2NA	uc002rpn.3	O43815	OTTHUMG00000100959	ENST00000263918.4:c.819_838delTGACAGCGGTGAAGATCGAG	2.37:g.37121134_37121153delCTCGATCTTCACCGCTGTCA	ENSP00000263918:p.Asp274fs					STRN_uc010ezx.2_Frame_Shift_Del_p.P273fs	p.P273fs	NM_003162	NP_003153	O43815	STRN_HUMAN			7	828_847	-		Ovarian(717;0.0129)|all_hematologic(82;0.21)	273_280					Q3KP65|Q53TQ8|Q9NP38	Frame_Shift_Del	DEL	ENST00000263918.4	37	c.819_838delTGACAGCGGTGAAGATCGAG	CCDS1784.1																																																																																				0.368	STRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218568.1		
SLC9A4	389015	broad.mit.edu	37	2	103149061	103149061	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr2:103149061G>T	ENST00000295269.4	+	12	2768	c.2311G>T	c.(2311-2313)Gtt>Ttt	p.V771F		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	771					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						GGCCTCTTTGGTTGAGGTTCG	0.537																																						uc002tbz.3																			0				skin(2)|central_nervous_system(1)	3						c.(2311-2313)GTT>TTT		solute carrier family 9 (sodium/hydrogen							85.0	52.0	63.0					2																	103149061		2203	4300	6503	SO:0001583	missense	389015				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr2:103149061G>T		CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"""Solute carriers"""	11077	protein-coding gene	gene with protein product		600531	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 4"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 4"""			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.2311G>T	2.37:g.103149061G>T	ENSP00000295269:p.Val771Phe						p.V771F	NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN			12	2768	+			771			Cytoplasmic (Potential).		Q69YK0	Missense_Mutation	SNP	ENST00000295269.4	37	c.2311G>T	CCDS33264.1	.	.	.	.	.	.	.	.	.	.	G	5.980	0.364798	0.11296	.	.	ENSG00000180251	ENST00000295269	T	0.47528	0.84	0.158	0.158	0.14942	.	2.054410	0.02770	N	0.119586	T	0.27866	0.0686	N	0.08118	0	0.09310	N	1	P	0.44006	0.824	B	0.42959	0.403	T	0.19877	-1.0292	9	0.10111	T	0.7	.	.	.	.	.	771	Q6AI14	SL9A4_HUMAN	F	771	ENSP00000295269:V771F	ENSP00000295269:V771F	V	+	1	0	SLC9A4	102515493	0.003000	0.15002	0.004000	0.12327	0.002000	0.02628	0.251000	0.18257	0.202000	0.20498	0.205000	0.17691	GTT		0.537	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329498.1	NM_001011552.3	
PKP4	8502	broad.mit.edu	37	2	159519424	159519424	+	Missense_Mutation	SNP	G	G	A	rs374838936		TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr2:159519424G>A	ENST00000389759.3	+	14	2339	c.2227G>A	c.(2227-2229)Gtg>Atg	p.V743M	PKP4_ENST00000389757.3_Missense_Mutation_p.V743M|AC005042.4_ENST00000342892.4_RNA	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	743					cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|positive regulation of cytokinesis (GO:0032467)|positive regulation of gene expression (GO:0010628)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell adhesion (GO:0030155)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|desmosome (GO:0030057)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)		p.V743M(1)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						GGAGAACTGCGTGTGCACCCT	0.498										HNSCC(62;0.18)																												uc002tzv.2																			1	Substitution - Missense(1)	p.V743M(1)	ovary(1)	ovary(5)|skin(2)	7						c.(2227-2229)GTG>ATG		plakophilin 4 isoform a		G	MET/VAL,MET/VAL	1,4405	2.1+/-5.4	0,1,2202	55.0	57.0	56.0		2227,2227	5.7	1.0	2		56	0,8600		0,0,4300	no	missense,missense	PKP4	NM_001005476.1,NM_003628.3	21,21	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	743/1150,743/1193	159519424	1,13005	2203	4300	6503	SO:0001583	missense	8502				cell adhesion	desmosome	protein binding	g.chr2:159519424G>A	X81889	CCDS33305.1, CCDS33306.1	2q24.1	2013-02-14			ENSG00000144283	ENSG00000144283		"""Armadillo repeat containing"""	9026	protein-coding gene	gene with protein product		604276				9342840, 8937994	Standard	NM_003628		Approved	p0071	uc002tzv.3	Q99569	OTTHUMG00000153969	ENST00000389759.3:c.2227G>A	2.37:g.159519424G>A	ENSP00000374409:p.Val743Met	HNSCC(62;0.18)				PKP4_uc002tzt.1_Missense_Mutation_p.V595M|PKP4_uc002tzu.2_Missense_Mutation_p.V743M|PKP4_uc002tzw.2_Missense_Mutation_p.V743M|PKP4_uc002tzx.2_Missense_Mutation_p.V400M|PKP4_uc002tzy.1_Missense_Mutation_p.V401M|PKP4_uc002uaa.2_Missense_Mutation_p.V595M|uc002uab.1_Intron|PKP4_uc002uac.2_Translation_Start_Site	p.V743M	NM_003628	NP_003619	Q99569	PKP4_HUMAN			14	2487	+			743			ARM 6.		Q86W91	Missense_Mutation	SNP	ENST00000389759.3	37	c.2227G>A	CCDS33305.1	.	.	.	.	.	.	.	.	.	.	G	17.27	3.345785	0.61073	2.27E-4	0.0	ENSG00000144283	ENST00000428353;ENST00000389757;ENST00000389759	D;D	0.84944	-1.92;-1.92	5.72	5.72	0.89469	Armadillo-like helical (1);Armadillo-type fold (1);	0.258302	0.39274	N	0.001416	D	0.91240	0.7239	M	0.62209	1.925	0.80722	D	1	D;D;P;D	0.71674	0.992;0.994;0.614;0.998	P;P;B;D	0.65010	0.79;0.848;0.135;0.931	D	0.91520	0.5234	10	0.87932	D	0	-10.6953	19.8968	0.96969	0.0:0.0:1.0:0.0	.	698;743;743;594	Q4W5T8;Q99569-2;Q99569;F8W7E2	.;.;PKP4_HUMAN;.	M	594;743;743	ENSP00000374407:V743M;ENSP00000374409:V743M	ENSP00000374407:V743M	V	+	1	0	PKP4	159227670	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	5.106000	0.64597	2.691000	0.91804	0.655000	0.94253	GTG		0.498	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333250.1		
ASNSD1	54529	broad.mit.edu	37	2	190531945	190531945	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr2:190531945A>G	ENST00000260952.4	+	4	1500	c.1087A>G	c.(1087-1089)Atg>Gtg	p.M363V	ASNSD1_ENST00000607062.1_Intron	NM_019048.2	NP_061921	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	363	Asparagine synthetase.				asparagine biosynthetic process (GO:0006529)|glutamine metabolic process (GO:0006541)		asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			AGAAAAGACCATGCCAACTAC	0.378																																						uc002uqt.2																			0				ovary(2)|skin(1)	3						c.(1087-1089)ATG>GTG		asparagine synthetase domain containing 1							86.0	82.0	84.0					2																	190531945		2203	4300	6503	SO:0001583	missense	54529				asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity	g.chr2:190531945A>G	AY116969	CCDS2300.1	2q32.2	2012-09-20			ENSG00000138381	ENSG00000138381			24910	protein-coding gene	gene with protein product							Standard	NM_019048		Approved	NS3TP1, FLJ20752, NBLA00058	uc002uqt.3	Q9NWL6	OTTHUMG00000132665	ENST00000260952.4:c.1087A>G	2.37:g.190531945A>G	ENSP00000260952:p.Met363Val						p.M363V	NM_019048	NP_061921	Q9NWL6	ASND1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)		4	1521	+			363			Asparagine synthetase.		D3DPH6|Q3LIC3|Q4ZG45	Missense_Mutation	SNP	ENST00000260952.4	37	c.1087A>G	CCDS2300.1	.	.	.	.	.	.	.	.	.	.	A	0.851	-0.738613	0.03111	.	.	ENSG00000138381	ENST00000260952;ENST00000420250	T;T	0.27557	1.66;1.66	5.65	-11.3	0.00108	Rossmann-like alpha/beta/alpha sandwich fold (1);Asparagine synthase (1);	2.683430	0.00766	N	0.001161	T	0.11452	0.0279	N	0.03115	-0.41	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.13442	-1.0509	10	0.28530	T	0.3	-16.0813	8.3679	0.32397	0.1746:0.1705:0.5712:0.0837	.	363	Q9NWL6	ASND1_HUMAN	V	363	ENSP00000260952:M363V;ENSP00000406790:M363V	ENSP00000260952:M363V	M	+	1	0	ASNSD1	190240190	0.000000	0.05858	0.000000	0.03702	0.198000	0.23893	-0.019000	0.12546	-2.938000	0.00298	0.533000	0.62120	ATG		0.378	ASNSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255919.3	NM_019048	
ZSWIM3	140831	broad.mit.edu	37	20	44506102	44506102	+	Missense_Mutation	SNP	G	G	A	rs569141770	byFrequency	TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr20:44506102G>A	ENST00000255152.2	+	2	1114	c.905G>A	c.(904-906)cGc>cAc	p.R302H	ZSWIM3_ENST00000454862.2_Missense_Mutation_p.R296H	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM-type containing 3	302							zinc ion binding (GO:0008270)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				CCTGCTGCCCGCATCCTCCTT	0.502													G|||	2	0.000399361	0.0	0.0	5008	,	,		22273	0.0		0.0	False		,,,				2504	0.002					uc002xqd.2																			0				ovary(2)	2						c.(904-906)CGC>CAC		zinc finger, SWIM domain containing 3							85.0	85.0	85.0					20																	44506102		2203	4300	6503	SO:0001583	missense	140831						zinc ion binding	g.chr20:44506102G>A	AL008726	CCDS13381.1	20q13.12	2014-06-13	2003-12-17	2003-12-19	ENSG00000132801	ENSG00000132801		"""Zinc fingers, SWIM-type"""	16157	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 174"""		"""chromosome 20 open reading frame 164"""	C20orf164			Standard	NM_080752		Approved	dJ337O18.7, PPP1R174	uc002xqd.3	Q96MP5	OTTHUMG00000032627	ENST00000255152.2:c.905G>A	20.37:g.44506102G>A	ENSP00000255152:p.Arg302His					ZSWIM3_uc010zxg.1_Missense_Mutation_p.R296H	p.R302H	NM_080752	NP_542790	Q96MP5	ZSWM3_HUMAN			2	1108	+		Myeloproliferative disorder(115;0.0122)	302					Q9BR13	Missense_Mutation	SNP	ENST00000255152.2	37	c.905G>A	CCDS13381.1	.	.	.	.	.	.	.	.	.	.	G	18.68	3.675759	0.67928	.	.	ENSG00000132801	ENST00000255152;ENST00000454862	T;T	0.31510	1.49;1.49	5.65	5.65	0.86999	MULE transposase domain (1);	0.164877	0.44483	D	0.000443	T	0.36880	0.0983	L	0.36672	1.1	0.41494	D	0.988243	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.984	T	0.17561	-1.0365	10	0.10111	T	0.7	-28.9044	7.261	0.26203	0.191:0.0:0.809:0.0	.	296;302	E7ETT6;Q96MP5	.;ZSWM3_HUMAN	H	302;296	ENSP00000255152:R302H;ENSP00000406313:R296H	ENSP00000255152:R302H	R	+	2	0	ZSWIM3	43939509	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.209000	0.58493	2.941000	0.99782	0.655000	0.94253	CGC		0.502	ZSWIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079540.1	NM_080752	
KRTAP15-1	254950	broad.mit.edu	37	21	31812738	31812738	+	Silent	SNP	C	C	A			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr21:31812738C>A	ENST00000334067.3	+	1	142	c.93C>A	c.(91-93)ccC>ccA	p.P31P		NM_181623.1	NP_853654.1	Q3LI76	KR151_HUMAN	keratin associated protein 15-1	31						intermediate filament (GO:0005882)				kidney(1)|large_intestine(3)|lung(6)|skin(1)	11						TGTTCTACCCCAGCAATGCCA	0.478																																						uc002yod.2																			0					0						c.(91-93)CCC>CCA		keratin associated protein 15-1							88.0	88.0	88.0					21																	31812738		2203	4300	6503	SO:0001819	synonymous_variant	254950					intermediate filament		g.chr21:31812738C>A	AP001708	CCDS13593.1	21q22.1	2008-05-21			ENSG00000186970	ENSG00000186970		"""Keratin associated proteins"""	18927	protein-coding gene	gene with protein product						12359730	Standard	NM_181623		Approved	KAP15.1	uc002yod.3	Q3LI76	OTTHUMG00000057784	ENST00000334067.3:c.93C>A	21.37:g.31812738C>A							p.P31P	NM_181623	NP_853654	Q3LI76	KR151_HUMAN			1	93	+			31					Q2M3F4	Silent	SNP	ENST00000334067.3	37	c.93C>A	CCDS13593.1																																																																																				0.478	KRTAP15-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128236.1		
SLC5A3	6526	broad.mit.edu	37	21	35468403	35468404	+	Frame_Shift_Ins	INS	-	-	G			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr21:35468403_35468404insG	ENST00000381151.3	+	2	1418_1419	c.906_907insG	c.(907-909)ggcfs	p.G303fs	SLC5A3_ENST00000608209.1_Frame_Shift_Ins_p.G303fs|AP000320.7_ENST00000362077.4_RNA|MRPS6_ENST00000399312.2_Intron			P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3	303					inositol metabolic process (GO:0006020)|peripheral nervous system development (GO:0007422)|regulation of respiratory gaseous exchange (GO:0043576)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	myo-inositol:sodium symporter activity (GO:0005367)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						CTCTTATGGCTGGCTTCTTAAA	0.47																																						uc002yto.2																			0				ovary(2)	2						c.(904-909)GCTGGCfs		solute carrier family 5 (inositol transporters),																																				SO:0001589	frameshift_variant	6526					integral to plasma membrane	myo-inositol:sodium symporter activity	g.chr21:35468403_35468404insG		CCDS33549.1	21q22.11	2013-05-22	2008-09-02		ENSG00000198743	ENSG00000198743		"""Solute carriers"""	11038	protein-coding gene	gene with protein product		600444	"""solute carrier family 5 (inositol transporter), member 3"""			7789985	Standard	NM_006933		Approved	SMIT, SMIT1	uc002yto.3	P53794	OTTHUMG00000065821	ENST00000381151.3:c.908dupG	21.37:g.35468405_35468405dupG	ENSP00000370543:p.Gly303fs					MRPS6_uc002ytp.2_Intron	p.A302fs	NM_006933	NP_008864	P53794	SC5A3_HUMAN			2	1418_1419	+			302_303			Cytoplasmic (Potential).		O43489	Frame_Shift_Ins	INS	ENST00000381151.3	37	c.906_907insG	CCDS33549.1																																																																																				0.470	SLC5A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000141037.1		
MICAL3	57553	broad.mit.edu	37	22	18301237	18301238	+	Frame_Shift_Ins	INS	-	-	C	rs199645457	byFrequency	TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr22:18301237_18301238insC	ENST00000441493.2	-	26	4541_4542	c.4189_4190insG	c.(4189-4191)gagfs	p.E1397fs	MICAL3_ENST00000580469.1_5'Flank	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1397	Pro-rich.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		GGACAACGGCTCGCCTTCCGGC	0.644																																						uc002zng.3																			0					0						c.(4189-4191)GAGfs		microtubule associated monoxygenase, calponin																																				SO:0001589	frameshift_variant	57553					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr22:18301237_18301238insC	AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.4190dupG	22.37:g.18301238_18301238dupC	ENSP00000416015:p.Glu1397fs					MICAL3_uc011agl.1_Frame_Shift_Ins_p.E1313fs|MICAL3_uc010gre.1_5'Flank	p.E1397fs	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN		Lung(27;0.0427)	26	4542_4543	-		all_epithelial(15;0.198)	1397			Pro-rich.		B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Frame_Shift_Ins	INS	ENST00000441493.2	37	c.4189_4190insG	CCDS46659.1																																																																																				0.644	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1		
DERL3	91319	broad.mit.edu	37	22	24179323	24179323	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr22:24179323A>G	ENST00000318109.7	-	6	558	c.542T>C	c.(541-543)aTc>aCc	p.I181T	DERL3_ENST00000404056.1_Missense_Mutation_p.I154T|DERL3_ENST00000476077.1_Missense_Mutation_p.I181T|DERL3_ENST00000464023.1_5'Flank|DERL3_ENST00000406855.3_Missense_Mutation_p.I181T			Q96Q80	DERL3_HUMAN	derlin 3	181					endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein N-linked glycosylation via asparagine (GO:0018279)	integral component of endoplasmic reticulum membrane (GO:0030176)				ovary(1)|prostate(1)|skin(1)	3						GAAGTAGTAGATATGGCCCAC	0.632																																						uc002zyh.2																			0				ovary(1)	1						c.(541-543)ATC>ACC		derlin 3 isoform 2							69.0	63.0	65.0					22																	24179323		2203	4300	6503	SO:0001583	missense	91319				endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process	integral to endoplasmic reticulum membrane	protein binding	g.chr22:24179323A>G	AB049213	CCDS33615.1, CCDS42986.1, CCDS46672.1	22q11.23	2012-02-01	2012-02-01	2004-11-02	ENSG00000099958	ENSG00000099958			14236	protein-coding gene	gene with protein product		610305	"""chromosome 22 open reading frame 14"", ""Der1-like domain family, member 3"""	C22orf14		15215855	Standard	NM_198440		Approved	FLJ43842, MGC71803, derlin-3, IZP6	uc002zyk.4	Q96Q80	OTTHUMG00000150743	ENST00000318109.7:c.542T>C	22.37:g.24179323A>G	ENSP00000315303:p.Ile181Thr					DERL3_uc002zyk.3_Missense_Mutation_p.I181T|DERL3_uc002zyi.2_Missense_Mutation_p.I181T|DERL3_uc002zyj.2_Silent_p.Y137Y	p.I181T	NM_001002862	NP_001002862	Q96Q80	DERL3_HUMAN			6	567	-			181			Cytoplasmic (Potential).		F2Z3B6|Q6ICJ6|Q6PEX0|Q6ZUB5	Missense_Mutation	SNP	ENST00000318109.7	37	c.542T>C	CCDS33615.1	.	.	.	.	.	.	.	.	.	.	A	15.22	2.769993	0.49680	.	.	ENSG00000099958	ENST00000406855;ENST00000404056;ENST00000318109;ENST00000476077	T;T;T;T	0.34859	1.34;1.34;1.34;1.34	4.63	4.63	0.57726	.	0.206543	0.42548	D	0.000698	T	0.31606	0.0802	L	0.38953	1.18	0.80722	D	1	B;B	0.17038	0.02;0.011	B;B	0.25405	0.06;0.026	T	0.10894	-1.0610	10	0.48119	T	0.1	.	13.5822	0.61909	1.0:0.0:0.0:0.0	.	181;181	Q96Q80-2;Q96Q80	.;DERL3_HUMAN	T	181;154;181;181	ENSP00000384744:I181T;ENSP00000384473:I154T;ENSP00000315303:I181T;ENSP00000419399:I181T	ENSP00000315303:I181T	I	-	2	0	DERL3	22509323	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.161000	0.77505	1.866000	0.54105	0.456000	0.33151	ATC		0.632	DERL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319905.1	NM_198440	
SYN3	8224	broad.mit.edu	37	22	32909719	32909719	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr22:32909719C>T	ENST00000358763.2	-	14	1945	c.1703G>A	c.(1702-1704)cGc>cAc	p.R568H	SYN3_ENST00000332840.5_Missense_Mutation_p.R568H|SYN3_ENST00000467095.1_5'UTR	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	568	E.				neurotransmitter secretion (GO:0007269)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)	p.R568H(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CCTCAGGTTGCGGATGGTTTC	0.572																																						uc003amx.2																			1	Substitution - Missense(1)		large_intestine(1)	skin(1)	1						c.(1702-1704)CGC>CAC		synapsin III isoform IIIa							160.0	115.0	130.0					22																	32909719		2203	4300	6503	SO:0001583	missense	8224				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity	g.chr22:32909719C>T	AF046873	CCDS13908.1	22q12.3	2008-05-14			ENSG00000185666	ENSG00000185666			11496	protein-coding gene	gene with protein product		602705				9539796	Standard	NM_003490		Approved		uc003amx.3	O14994	OTTHUMG00000031004	ENST00000358763.2:c.1703G>A	22.37:g.32909719C>T	ENSP00000351614:p.Arg568His					SYN3_uc003amy.2_3'UTR|SYN3_uc003amz.2_Missense_Mutation_p.R567H	p.R568H	NM_003490	NP_003481	O14994	SYN3_HUMAN			13	1862	-			568			E.		B1B1F9	Missense_Mutation	SNP	ENST00000358763.2	37	c.1703G>A	CCDS13908.1	.	.	.	.	.	.	.	.	.	.	C	35	5.518069	0.96416	.	.	ENSG00000185666	ENST00000358763;ENST00000332840;ENST00000445154	T;T	0.53640	0.61;0.61	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.69797	0.3151	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.991	T	0.72141	-0.4380	10	0.87932	D	0	-4.6075	19.5608	0.95371	0.0:1.0:0.0:0.0	.	567;568	Q17R54;O14994	.;SYN3_HUMAN	H	568;568;174	ENSP00000351614:R568H;ENSP00000330219:R568H	ENSP00000330219:R568H	R	-	2	0	SYN3	31239719	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.469000	0.80959	2.698000	0.92095	0.561000	0.74099	CGC		0.572	SYN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075892.4		
NAGA	4668	broad.mit.edu	37	22	42458918	42458918	+	Silent	SNP	G	G	A	rs144984228		TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr22:42458918G>A	ENST00000396398.3	-	7	1402	c.870C>T	c.(868-870)tcC>tcT	p.S290S	NAGA_ENST00000402937.1_Silent_p.S290S|NAGA_ENST00000403363.1_Silent_p.S290S	NM_000262.2	NP_000253.1	P17050	NAGAB_HUMAN	N-acetylgalactosaminidase, alpha-	290					carbohydrate catabolic process (GO:0016052)|glycolipid catabolic process (GO:0019377)|glycoside catabolic process (GO:0016139)|glycosylceramide catabolic process (GO:0046477)|oligosaccharide metabolic process (GO:0009311)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-galactosidase activity (GO:0004557)|alpha-N-acetylgalactosaminidase activity (GO:0008456)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						TGTTCTGGGCGGAGATGGTAC	0.557																																						uc003bbx.2																			0				central_nervous_system(1)	1						c.(868-870)TCC>TCT		alpha-N-acetylgalactosaminidase precursor		G		1,4405	2.1+/-5.4	0,1,2202	131.0	110.0	117.0		870	-7.3	0.0	22	dbSNP_134	117	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	NAGA	NM_000262.2		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		290/412	42458918	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	4668				glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process	lysosome	alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity	g.chr22:42458918G>A		CCDS14030.1	22q13.2	2010-07-09			ENSG00000198951	ENSG00000198951	3.2.1.49		7631	protein-coding gene	gene with protein product		104170					Standard	NM_000262		Approved	D22S674	uc003bbw.4	P17050	OTTHUMG00000151276	ENST00000396398.3:c.870C>T	22.37:g.42458918G>A						NAGA_uc003bby.2_Silent_p.S290S|NAGA_uc003bbw.3_Silent_p.S290S	p.S290S	NM_000262	NP_000253	P17050	NAGAB_HUMAN			8	1007	-			290						Silent	SNP	ENST00000396398.3	37	c.870C>T	CCDS14030.1	.	.	.	.	.	.	.	.	.	.	G	0.192	-1.052075	0.01981	2.27E-4	1.16E-4	ENSG00000198951	ENST00000481068	.	.	.	5.69	-7.31	0.01441	.	.	.	.	.	T	0.36054	0.0953	.	.	.	0.47819	D	0.999521	.	.	.	.	.	.	T	0.46162	-0.9211	4	.	.	.	-18.3189	2.9144	0.05748	0.2935:0.1369:0.431:0.1387	.	.	.	.	C	168	.	.	R	-	1	0	NAGA	40788864	0.000000	0.05858	0.047000	0.18901	0.041000	0.13682	-1.095000	0.03356	-0.632000	0.05553	-1.165000	0.01757	CGC		0.557	NAGA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322056.1		
CNTN4	152330	broad.mit.edu	37	3	2861249	2861249	+	Silent	SNP	G	G	A			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr3:2861249G>A	ENST00000397461.1	+	6	822	c.438G>A	c.(436-438)ccG>ccA	p.P146P	CNTN4_ENST00000427331.1_Silent_p.P146P|CNTN4_ENST00000418658.1_Silent_p.P146P	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	146	Ig-like C2-type 2.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TGTGTGGCCCGCCACCCCATT	0.453																																						uc003bpc.2																			0				large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1)	7						c.(436-438)CCG>CCA		contactin 4 isoform a precursor							94.0	93.0	93.0					3																	2861249		1968	4160	6128	SO:0001819	synonymous_variant	152330				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	g.chr3:2861249G>A	AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.438G>A	3.37:g.2861249G>A						CNTN4_uc003bpb.1_5'UTR|CNTN4_uc003bpd.1_Silent_p.P146P	p.P146P	NM_175607	NP_783200	Q8IWV2	CNTN4_HUMAN		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)	6	659	+		Ovarian(110;0.156)	146			Ig-like C2-type 2.		B2RAX3|Q8IX14|Q8TC35	Silent	SNP	ENST00000397461.1	37	c.438G>A	CCDS43041.1																																																																																				0.453	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2		
TRIM71	131405	broad.mit.edu	37	3	32933041	32933041	+	Missense_Mutation	SNP	G	G	A	rs373870640		TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr3:32933041G>A	ENST00000383763.5	+	4	2408	c.2345G>A	c.(2344-2346)cGc>cAc	p.R782H		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	782					fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|miRNA metabolic process (GO:0010586)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|positive regulation of gene silencing by miRNA (GO:2000637)|protein autoubiquitination (GO:0051865)|regulation of gene silencing by miRNA (GO:0060964)|regulation of neural precursor cell proliferation (GO:2000177)|stem cell proliferation (GO:0072089)	cytoplasmic mRNA processing body (GO:0000932)	ligase activity (GO:0016874)|miRNA binding (GO:0035198)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CAGTCGGCACGCTTTCTGGGC	0.617																																						uc003cff.2																			0				ovary(2)|large_intestine(1)	3						c.(2344-2346)CGC>CAC		tripartite motif-containing 71		G	HIS/ARG	0,3950		0,0,1975	43.0	45.0	44.0		2345	6.0	1.0	3		44	1,8323		0,1,4161	no	missense	TRIM71	NM_001039111.1	29	0,1,6136	AA,AG,GG		0.012,0.0,0.0081	benign	782/869	32933041	1,12273	1975	4162	6137	SO:0001583	missense	131405				multicellular organismal development	cytoplasm	zinc ion binding	g.chr3:32933041G>A		CCDS43060.1	3p22.3	2014-02-17	2012-02-29		ENSG00000206557	ENSG00000206557		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	32669	protein-coding gene	gene with protein product			"""tripartite motif-containing 71"", ""tripartite motif containing 71"""				Standard	NM_001039111		Approved	LIN41, LIN-41	uc003cff.3	Q2Q1W2	OTTHUMG00000155778	ENST00000383763.5:c.2345G>A	3.37:g.32933041G>A	ENSP00000373272:p.Arg782His						p.R782H	NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN			4	2408	+			782			NHL 5.			Missense_Mutation	SNP	ENST00000383763.5	37	c.2345G>A	CCDS43060.1	.	.	.	.	.	.	.	.	.	.	G	13.02	2.112788	0.37242	0.0	1.2E-4	ENSG00000206557	ENST00000383763	D	0.90788	-2.73	5.96	5.96	0.96718	Six-bladed beta-propeller, TolB-like (1);	0.150620	0.64402	D	0.000009	D	0.84902	0.5575	L	0.51853	1.615	0.80722	D	1	B	0.31640	0.333	B	0.17979	0.02	T	0.80372	-0.1410	10	0.15066	T	0.55	-45.897	12.3009	0.54874	0.0774:0.0:0.9226:0.0	.	782	Q2Q1W2	LIN41_HUMAN	H	782	ENSP00000373272:R782H	ENSP00000373272:R782H	R	+	2	0	TRIM71	32908045	1.000000	0.71417	0.999000	0.59377	0.822000	0.46500	8.018000	0.88722	2.830000	0.97506	0.655000	0.94253	CGC		0.617	TRIM71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341565.3	NM_001039111	
LINC00969	440993	broad.mit.edu	37	3	195400814	195400815	+	lincRNA	INS	-	-	TT	rs371598334		TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr3:195400814_195400815insTT	ENST00000445430.1	+	0	1410_1411									long intergenic non-protein coding RNA 969																		ACCTGGTTGTCTGGTCAGGCAT	0.574																																						uc003fuw.2																			0					0						c.(109-111)TCTfs		SubName: Full=cDNA FLJ16373 fis, clone THYMU3000269, highly similar to Succinate dehydrogenase (ubiquinone) flavoprotein subunit, mitochondrial (EC 1.3.5.1);																																						727956							g.chr3:195400814_195400815insTT	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400814_195400815insTT						SDHAP2_uc011btb.1_Frame_Shift_Ins_p.V184fs|SDHAP2_uc011btc.1_RNA|SDHAP2_uc003fuv.2_RNA	p.S37fs							9	1304_1305	+									Frame_Shift_Ins	INS	ENST00000445430.1	37	c.110_111insTT																																																																																					0.574	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1		
ZNF721	170960	broad.mit.edu	37	4	436548	436548	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr4:436548C>T	ENST00000338977.5	-	2	1720	c.1672G>A	c.(1672-1674)Gca>Aca	p.A558T	ZNF721_ENST00000507078.1_Intron|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000511833.2_Missense_Mutation_p.A570T			Q8TF20	ZN721_HUMAN	zinc finger protein 721	558					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						TAAAGGTTTGCGGACTGTCTA	0.418																																						uc003gag.2																			0				ovary(1)	1						c.(1708-1710)GCA>ACA		zinc finger protein 721							106.0	117.0	114.0					4																	436548		2126	4247	6373	SO:0001583	missense	170960					intracellular	nucleic acid binding|zinc ion binding	g.chr4:436548C>T	AK092362	CCDS46991.1	4p16.3	2013-01-08			ENSG00000182903	ENSG00000182903		"""Zinc fingers, C2H2-type"", ""-"""	29425	protein-coding gene	gene with protein product						11853319	Standard	NM_133474		Approved	KIAA1982	uc003gag.4	Q8TF20		ENST00000338977.5:c.1672G>A	4.37:g.436548C>T	ENSP00000340524:p.Ala558Thr					ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.1_Intron|ABCA11P_uc003gae.2_Intron|ABCA11P_uc010ibd.1_Intron|ZNF721_uc003gaf.3_Missense_Mutation_p.A602T|ZNF721_uc010ibe.2_Missense_Mutation_p.A558T	p.A570T	NM_133474	NP_597731	D9N162	D9N162_HUMAN			3	2399	-			570					Q69YG7	Missense_Mutation	SNP	ENST00000338977.5	37	c.1708G>A		.	.	.	.	.	.	.	.	.	.	C	7.725	0.698032	0.15106	.	.	ENSG00000182903	ENST00000338977;ENST00000511833	T;T	0.07567	3.18;3.18	1.0	-2.0	0.07433	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07369	0.0186	N	0.02697	-0.525	0.09310	N	1	D;D;D	0.71674	0.998;0.994;0.997	P;P;D	0.67900	0.901;0.901;0.954	T	0.31779	-0.9931	9	0.52906	T	0.07	.	5.6499	0.17610	0.3152:0.6848:0.0:0.0	.	558;570;570	Q8TF20;D9N162;Q8TF20-2	ZN721_HUMAN;.;.	T	558;570	ENSP00000340524:A558T;ENSP00000428878:A570T	ENSP00000340524:A558T	A	-	1	0	ZNF721	426548	0.000000	0.05858	0.001000	0.08648	0.126000	0.20510	-2.313000	0.01126	-0.665000	0.05317	0.184000	0.17185	GCA		0.418	ZNF721-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000357939.1	NM_133474	
CNGA1	1259	broad.mit.edu	37	4	47939480	47939480	+	Missense_Mutation	SNP	C	C	T	rs150374036	byFrequency	TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr4:47939480C>T	ENST00000514170.1	-	11	1350	c.1031G>A	c.(1030-1032)cGt>cAt	p.R344H	CNGA1_ENST00000544810.1_Missense_Mutation_p.R344H|CNGA1_ENST00000358519.4_Missense_Mutation_p.R344H|CNGA1_ENST00000402813.3_Missense_Mutation_p.R413H|CNGA1_ENST00000420489.2_Missense_Mutation_p.R344H			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	344					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						TCTAGCCAAACGGCCAAATTC	0.413													C|||	19	0.00379393	0.0	0.0	5008	,	,		21784	0.004		0.0	False		,,,				2504	0.0153					uc003gxt.3																			0				ovary(2)	2						c.(1030-1032)CGT>CAT		cyclic nucleotide gated channel alpha 1 isoform							115.0	113.0	114.0					4																	47939480		1894	4123	6017	SO:0001583	missense	1259				response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity	g.chr4:47939480C>T	M84741	CCDS43226.1, CCDS47050.1	4p12	2013-02-14				ENSG00000198515		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2148	protein-coding gene	gene with protein product		123825		CNCG1, CNCG		7683629, 16382102	Standard	NM_000087		Approved	RCNC1, RCNCa, CNG1, RP49	uc003gxu.3	P29973		ENST00000514170.1:c.1031G>A	4.37:g.47939480C>T	ENSP00000426862:p.Arg344His					uc003gxr.1_Intron|CNGA1_uc003gxu.2_Missense_Mutation_p.R413H	p.R344H	NM_000087	NP_000078	P29973	CNGA1_HUMAN			11	1297	-			344			Cytoplasmic (Potential).		A8K7K6|J3KPZ2|Q16279|Q16485|Q4W5E3	Missense_Mutation	SNP	ENST00000514170.1	37	c.1031G>A	CCDS43226.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	C	12.88	2.069497	0.36470	.	.	ENSG00000198515	ENST00000402813;ENST00000514170;ENST00000544810;ENST00000358519;ENST00000420489	D;D;D;D;D	0.97906	-4.6;-4.6;-4.6;-4.6;-4.6	4.77	3.93	0.45458	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.95465	0.8527	M	0.75447	2.3	0.45979	D	0.998794	P;P	0.50443	0.935;0.935	P;P	0.45681	0.49;0.49	D	0.93356	0.6722	10	0.17369	T	0.5	.	12.9556	0.58425	0.0:0.9214:0.0:0.0786	.	344;344	Q4W5E3;P29973	.;CNGA1_HUMAN	H	413;344;344;344;344	ENSP00000384264:R413H;ENSP00000426862:R344H;ENSP00000443401:R344H;ENSP00000351320:R344H;ENSP00000389881:R344H	ENSP00000351320:R344H	R	-	2	0	CNGA1	47634237	1.000000	0.71417	0.998000	0.56505	0.248000	0.25809	7.442000	0.80503	1.008000	0.39264	-0.258000	0.10820	CGT		0.413	CNGA1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372070.2	NM_000087	
PDGFRA	5156	broad.mit.edu	37	4	55133834	55133834	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr4:55133834G>C	ENST00000257290.5	+	7	1378	c.1047G>C	c.(1045-1047)tgG>tgC	p.W349C	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	349	Ig-like C2-type 4.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.W349C(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	GGATATCCTGGCTGAAAAACA	0.443			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	uc003han.3				Dom	yes		4	4q11-q13	5156	Mis|O|T	"""platelet-derived growth factor, alpha-receptor"""			"""L, M, O"""	FIP1L1		GIST|idiopathic hypereosinophilic syndrome		1	Substitution - Missense(1)	p.W349C(1)	central_nervous_system(1)	soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674						c.(1045-1047)TGG>TGC		platelet-derived growth factor receptor alpha	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						56.0	54.0	54.0					4																	55133834		2203	4300	6503	SO:0001583	missense	5156	Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55133834G>C	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.1047G>C	4.37:g.55133834G>C	ENSP00000257290:p.Trp349Cys	TSP Lung(21;0.16)				PDGFRA_uc003haa.2_Intron|PDGFRA_uc010igq.1_Missense_Mutation_p.W243C|PDGFRA_uc003ham.2_RNA	p.W349C	NM_006206	NP_006197	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		7	1378	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		349			Ig-like C2-type 4.|Extracellular (Potential).		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	c.1047G>C	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.255935	0.80135	.	.	ENSG00000134853	ENST00000257290	D	0.96300	-3.97	5.79	5.79	0.91817	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	0.000000	0.30538	U	0.009404	D	0.98560	0.9519	M	0.90705	3.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99123	1.0850	10	0.87932	D	0	.	20.0361	0.97558	0.0:0.0:1.0:0.0	.	349;349	P16234-3;P16234	.;PGFRA_HUMAN	C	349	ENSP00000257290:W349C	ENSP00000257290:W349C	W	+	3	0	PDGFRA	54828591	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	8.401000	0.90202	2.745000	0.94114	0.462000	0.41574	TGG		0.443	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206	
UFSP2	55325	broad.mit.edu	37	4	186334930	186334930	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr4:186334930T>C	ENST00000264689.6	-	7	897	c.781A>G	c.(781-783)Att>Gtt	p.I261V	Y_RNA_ENST00000384502.1_RNA|UFSP2_ENST00000502282.1_5'Flank	NM_018359.3	NP_060829.2	Q9NUQ7	UFSP2_HUMAN	UFM1-specific peptidase 2	261						cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	small conjugating protein-specific protease activity (GO:0019783)|thiolester hydrolase activity (GO:0016790)			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166)		GGATTTCTAATGTAACCATCT	0.363																																						uc003ixo.2																			0					0						c.(781-783)ATT>GTT		UFM1-specific peptidase 2							178.0	177.0	177.0					4																	186334930		2203	4300	6503	SO:0001583	missense	55325					endoplasmic reticulum|nucleus	small conjugating protein-specific protease activity	g.chr4:186334930T>C	AK002062	CCDS3842.1	4q35.1	2008-03-25	2008-03-25	2008-03-25	ENSG00000109775	ENSG00000109775			25640	protein-coding gene	gene with protein product		611482	"""chromosome 4 open reading frame 20"""	C4orf20		17182609	Standard	NM_018359		Approved	FLJ11200	uc003ixo.2	Q9NUQ7	OTTHUMG00000160441	ENST00000264689.6:c.781A>G	4.37:g.186334930T>C	ENSP00000264689:p.Ile261Val					UFSP2_uc003ixn.2_Missense_Mutation_p.I151V|UFSP2_uc003ixq.2_Missense_Mutation_p.I151V|UFSP2_uc003ixp.2_RNA	p.I261V	NM_018359	NP_060829	Q9NUQ7	UFSP2_HUMAN		all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166)	7	898	-		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)	261					Q6IA77|Q96FS3	Missense_Mutation	SNP	ENST00000264689.6	37	c.781A>G	CCDS3842.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.46|14.46	2.540584|2.540584	0.45280|0.45280	.|.	.|.	ENSG00000109775|ENSG00000109775	ENST00000511485|ENST00000264689	.|T	.|0.30448	.|1.53	6.04|6.04	3.62|3.62	0.41486|0.41486	.|.	.|0.130647	.|0.52532	.|D	.|0.000066	T|T	0.24470|0.24470	0.0593|0.0593	L|L	0.44542|0.44542	1.39|1.39	0.36491|0.36491	D|D	0.86842|0.86842	.|B;B	.|0.15473	.|0.013;0.001	.|B;B	.|0.14023	.|0.006;0.01	T|T	0.14671|0.14671	-1.0464|-1.0464	5|10	.|0.49607	.|T	.|0.09	-25.5742|-25.5742	8.1278|8.1278	0.31010|0.31010	0.0:0.0717:0.3242:0.6041|0.0:0.0717:0.3242:0.6041	.|.	.|261;161	.|Q9NUQ7;B3KRI4	.|UFSP2_HUMAN;.	R|V	174|261	.|ENSP00000264689:I261V	.|ENSP00000264689:I261V	H|I	-|-	2|1	0|0	UFSP2|UFSP2	186571924|186571924	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	4.485000|4.485000	0.60279|0.60279	1.085000|1.085000	0.41206|0.41206	0.459000|0.459000	0.35465|0.35465	CAT|ATT		0.363	UFSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360589.2	NM_018359	
TUBB7P	56604	broad.mit.edu	37	4	190904151	190904152	+	IGR	INS	-	-	G			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr4:190904151_190904152insG								FRG1 (19792 upstream) : RNA5SP174 (32140 downstream)																							TACTGCTGGCTGCCCCGGCTGG	0.614																																						uc011clg.1																			0					0						c.(826-831)GGCAGCfs		tubulin, beta polypeptide 4, member Q				211,48,1911		24,0,163,3,42,853						0.2	0.2			6	530,137,5037		44,0,442,7,123,2236	no	intergenic				68,0,605,10,165,3089	A1A1,A1A2,A1R,A2A2,A2R,RR		11.6935,11.9355,11.7602				741,185,6948				SO:0001628	intergenic_variant	56604				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr4:190904151_190904152insG																													4.37:g.190904152_190904152dupG							p.G276fs	NM_020040	NP_064424	Q99867	TBB4Q_HUMAN		all cancers(3;4.1e-31)|Epithelial(3;1.44e-30)|OV - Ovarian serous cystadenocarcinoma(60;2.03e-15)|BRCA - Breast invasive adenocarcinoma(30;8.54e-06)|Lung(3;3.23e-05)|STAD - Stomach adenocarcinoma(60;8.24e-05)|LUSC - Lung squamous cell carcinoma(40;0.000184)|GBM - Glioblastoma multiforme(59;0.00839)|READ - Rectum adenocarcinoma(43;0.155)	4	831_832	-		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)	277_278						Frame_Shift_Ins	INS		37	c.828_829insC																																																																																				0	0.614								
CCT5	22948	broad.mit.edu	37	5	10262653	10262653	+	Missense_Mutation	SNP	C	C	A	rs200430696		TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr5:10262653C>A	ENST00000280326.4	+	9	1660	c.1240C>A	c.(1240-1242)Cgc>Agc	p.R414S	CCT5_ENST00000515676.1_Missense_Mutation_p.R376S|CCT5_ENST00000515390.1_Missense_Mutation_p.R359S|CCT5_ENST00000503026.1_Missense_Mutation_p.R393S|CTD-2256P15.4_ENST00000606194.1_RNA|CCT5_ENST00000506600.1_Missense_Mutation_p.R321S	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	414					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|response to virus (GO:0009615)	cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleolus (GO:0005730)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|G-protein beta-subunit binding (GO:0031681)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						GAACCTCATCCGCGATAATCG	0.493																																						uc003jeq.2																			0				ovary(2)	2						c.(1240-1242)CGC>AGC		chaperonin containing TCP1, subunit 5 (epsilon)							174.0	141.0	152.0					5																	10262653		2203	4300	6503	SO:0001583	missense	22948				'de novo' posttranslational protein folding|response to virus	microtubule organizing center|nucleolus	ATP binding|unfolded protein binding	g.chr5:10262653C>A	D43950	CCDS3877.1	5p15.2	2014-09-17			ENSG00000150753	ENSG00000150753		"""Heat Shock Proteins / Chaperonins"""	1618	protein-coding gene	gene with protein product		610150					Standard	NM_012073		Approved	KIAA0098	uc003jeq.3	P48643	OTTHUMG00000131042	ENST00000280326.4:c.1240C>A	5.37:g.10262653C>A	ENSP00000280326:p.Arg414Ser					CCT5_uc003jer.2_Missense_Mutation_p.R414S|CCT5_uc010its.2_Missense_Mutation_p.R414S|CCT5_uc011cmr.1_Missense_Mutation_p.R359S|CCT5_uc011cms.1_Missense_Mutation_p.R376S|CCT5_uc011cmt.1_Missense_Mutation_p.R321S	p.R414S	NM_012073	NP_036205	P48643	TCPE_HUMAN			9	1411	+			414					A8JZY8|A8K2X8|B4DYD8	Missense_Mutation	SNP	ENST00000280326.4	37	c.1240C>A	CCDS3877.1	.	.	.	.	.	.	.	.	.	.	C	17.59	3.426247	0.62733	.	.	ENSG00000150753	ENST00000280326;ENST00000503026;ENST00000515390;ENST00000440011;ENST00000515676;ENST00000506600	T;T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22;-1.22	5.09	5.09	0.68999	.	0.045995	0.85682	D	0.000000	D	0.84759	0.5543	M	0.78916	2.43	0.58432	D	0.999996	B;P;B;B;B	0.36162	0.161;0.54;0.226;0.226;0.226	B;P;B;B;B	0.50270	0.35;0.636;0.247;0.35;0.247	D	0.86042	0.1520	10	0.72032	D	0.01	-14.4748	12.9612	0.58460	0.1617:0.8382:0.0:0.0	.	321;359;412;414;414	B4DYD8;E7ENZ3;Q9BU08;A8K2X8;P48643	.;.;.;.;TCPE_HUMAN	S	414;393;359;387;376;321	ENSP00000280326:R414S;ENSP00000423318:R393S;ENSP00000426923:R359S;ENSP00000427297:R376S;ENSP00000423052:R321S	ENSP00000280326:R414S	R	+	1	0	CCT5	10315653	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	2.702000	0.47102	2.528000	0.85240	0.558000	0.71614	CGC		0.493	CCT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253688.2		
SNX18	112574	broad.mit.edu	37	5	53815264	53815264	+	Silent	SNP	C	C	G			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr5:53815264C>G	ENST00000326277.3	+	1	1672	c.1482C>G	c.(1480-1482)gcC>gcG	p.A494A	SNX18_ENST00000381410.4_Silent_p.A494A|SNX18_ENST00000343017.6_Silent_p.A494A	NM_052870.2	NP_443102.2	Q96RF0	SNX18_HUMAN	sorting nexin 18	494	BAR.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|positive regulation of GTPase activity (GO:0043547)	cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18		Lung NSC(810;3.46e-05)|Breast(144;0.102)				AGGCTATCGCCTTCACCGGAG	0.617																																						uc003jpj.3																			0					0						c.(1480-1482)GCC>GCG		sorting nexin 18 isoform b							56.0	54.0	55.0					5																	53815264		2203	4300	6503	SO:0001819	synonymous_variant	112574				cell communication|endocytosis|positive regulation of GTPase activity|protein transport	endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane	phosphatidylinositol binding|protein binding	g.chr5:53815264C>G	AF395536	CCDS3962.1, CCDS43317.1, CCDS54851.1	5q11.2	2010-05-12	2008-03-11	2008-03-11	ENSG00000178996	ENSG00000178996		"""Sorting nexins"""	19245	protein-coding gene	gene with protein product			"""sorting nexin associated golgi protein 1"""	SNAG1		16782399, 17761170	Standard	NM_052870		Approved	SH3PX2, SH3PXD3B	uc003jpi.4	Q96RF0	OTTHUMG00000096994	ENST00000326277.3:c.1482C>G	5.37:g.53815264C>G						SNX18_uc011cqg.1_Silent_p.A494A|SNX18_uc003jpi.3_Silent_p.A494A	p.A494A	NM_052870	NP_443102	Q96RF0	SNX18_HUMAN			1	1672	+		Lung NSC(810;3.46e-05)|Breast(144;0.102)	494			BAR.		B4E2B3|H7BXX3|Q05BB3|Q0VG02	Silent	SNP	ENST00000326277.3	37	c.1482C>G	CCDS3962.1																																																																																				0.617	SNX18-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214072.2		
FAM53C	51307	broad.mit.edu	37	5	137680780	137680781	+	Frame_Shift_Ins	INS	-	-	G			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr5:137680780_137680781insG	ENST00000239906.5	+	4	831_832	c.403_404insG	c.(403-405)cggfs	p.R135fs	FAM53C_ENST00000507506.1_3'UTR|FAM53C_ENST00000513056.1_Intron|RP11-256P1.1_ENST00000504539.1_RNA|FAM53C_ENST00000434981.2_Frame_Shift_Ins_p.R135fs	NM_016605.2	NP_057689.1	Q9NYF3	FA53C_HUMAN	family with sequence similarity 53, member C	135										breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GCCGGTGTGGCGGCCCGCCCCC	0.683																																						uc003lcv.2																			0				ovary(1)	1						c.(403-405)CGGfs		hypothetical protein LOC51307																																				SO:0001589	frameshift_variant	51307							g.chr5:137680780_137680781insG	AF251040	CCDS4204.1	5q31	2008-02-05	2004-11-24	2004-11-26	ENSG00000120709	ENSG00000120709			1336	protein-coding gene	gene with protein product		609372	"""chromosome 5 open reading frame 6"""	C5orf6		11087669, 11161817	Standard	NM_001135647		Approved		uc003lcv.3	Q9NYF3	OTTHUMG00000129201	ENST00000239906.5:c.405dupG	5.37:g.137680782_137680782dupG	ENSP00000239906:p.Arg135fs					FAM53C_uc003lcw.2_Frame_Shift_Ins_p.R135fs|FAM53C_uc011cyq.1_Intron|FAM53C_uc011cyr.1_Intron	p.R135fs	NM_001135647	NP_001129119	Q9NYF3	FA53C_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		4	873_874	+			135					B2RDJ5|D3DQB9	Frame_Shift_Ins	INS	ENST00000239906.5	37	c.403_404insG	CCDS4204.1																																																																																				0.683	FAM53C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251278.2	NM_016605	
PCDHA11	56138	broad.mit.edu	37	5	140250296	140250296	+	Silent	SNP	G	G	A			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr5:140250296G>A	ENST00000398640.2	+	1	1608	c.1608G>A	c.(1606-1608)gcG>gcA	p.A536A	PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	536	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGAGCGCGCGCGATGCGG	0.667																																						uc003lia.2																			0				breast(1)	1						c.(1606-1608)GCG>GCA		protocadherin alpha 11 isoform 1 precursor							67.0	75.0	72.0					5																	140250296		2202	4298	6500	SO:0001819	synonymous_variant	56138				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140250296G>A	AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"""Cadherins / Protocadherins : Clustered"""	8665	other	complex locus constituent	"""KIAA0345-like 3"", ""ortholog of mouse CNR7"""	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.1608G>A	5.37:g.140250296G>A						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Silent_p.A536A	p.A536A	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2466	+			536			Extracellular (Potential).|Cadherin 5.		B2RN58|O75279	Silent	SNP	ENST00000398640.2	37	c.1608G>A	CCDS47284.1																																																																																				0.667	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902	
PCDHGB3	56102	broad.mit.edu	37	5	140779096	140779096	+	Intron	SNP	G	G	A			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr5:140779096G>A	ENST00000576222.1	+	1	2546				PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCCTCCATCGCGCAAGTCTG	0.567																																						uc003lkf.1																			0					0						c.(1402-1404)GCG>ACG		protocadherin gamma subfamily B, 5 isoform 1							43.0	46.0	45.0					5																	140779096		1896	4119	6015	SO:0001627	intron_variant	56101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140779096G>A	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.2415+26720G>A	5.37:g.140779096G>A						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc011daw.1_Missense_Mutation_p.A468T	p.A468T	NM_018925	NP_061748	Q9Y5G0	PCDGH_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1402	+			468			Extracellular (Potential).|Cadherin 5.		A7E229|Q9Y5C7	Missense_Mutation	SNP	ENST00000576222.1	37	c.1402G>A	CCDS58980.1																																																																																				0.567	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924	
RANBP17	64901	broad.mit.edu	37	5	170351426	170351426	+	Missense_Mutation	SNP	C	C	T	rs369051193		TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr5:170351426C>T	ENST00000523189.1	+	12	1504	c.1340C>T	c.(1339-1341)aCg>aTg	p.T447M		NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	447					mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)	GTP binding (GO:0005525)	p.T447M(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CAGTTGTGCACGGTCAGCAGA	0.413			T	TRD@	ALL																																	uc003mba.2				Dom	yes		5	5q34	64901	T	RAN binding protein 17			L	TRD@		ALL		1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1339-1341)ACG>ATG		RAN binding protein 17		C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	143.0	128.0	133.0		1340	6.2	1.0	5		133	0,8600		0,0,4300	no	missense	RANBP17	NM_022897.3	81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	447/1089	170351426	1,13005	2203	4300	6503	SO:0001583	missense	64901				mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity	g.chr5:170351426C>T	AF222747	CCDS34287.1	5q34	2009-01-12			ENSG00000204764	ENSG00000204764			14428	protein-coding gene	gene with protein product		606141				11024021	Standard	NM_022897		Approved		uc003mba.3	Q9H2T7	OTTHUMG00000163203	ENST00000523189.1:c.1340C>T	5.37:g.170351426C>T	ENSP00000427975:p.Thr447Met					RANBP17_uc003max.1_RNA|RANBP17_uc003may.1_RNA|RANBP17_uc003maz.1_RNA|RANBP17_uc010jjr.1_RNA	p.T447M	NM_022897	NP_075048	Q9H2T7	RBP17_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		12	1356	+	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	447					Q8IU74	Missense_Mutation	SNP	ENST00000523189.1	37	c.1340C>T	CCDS34287.1	.	.	.	.	.	.	.	.	.	.	c	31	5.099555	0.94197	2.27E-4	0.0	ENSG00000204764	ENST00000523189;ENST00000545246	T	0.32023	1.47	6.16	6.16	0.99307	Armadillo-type fold (1);	0.000000	0.64402	D	0.000003	T	0.61274	0.2334	M	0.86502	2.82	0.52501	D	0.999954	D	0.89917	1.0	D	0.64595	0.927	T	0.57452	-0.7809	10	0.30854	T	0.27	-15.6156	20.4549	0.99139	0.0:1.0:0.0:0.0	.	447	Q9H2T7	RBP17_HUMAN	M	447;343	ENSP00000427975:T447M	ENSP00000373770:T447M	T	+	2	0	RANBP17	170284031	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	7.633000	0.83260	2.937000	0.99478	0.650000	0.86243	ACG		0.413	RANBP17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000372036.1	NM_022897	
PKHD1	5314	broad.mit.edu	37	6	51890717	51890717	+	Silent	SNP	C	C	T			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr6:51890717C>T	ENST00000371117.3	-	32	4166	c.3891G>A	c.(3889-3891)gcG>gcA	p.A1297A	PKHD1_ENST00000340994.4_Silent_p.A1297A	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1297					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GTGTTGCTGCCGCTTCATACA	0.547																																						uc003pah.1																			0				lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44						c.(3889-3891)GCG>GCA		fibrocystin isoform 1							99.0	88.0	92.0					6																	51890717		2203	4300	6503	SO:0001819	synonymous_variant	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51890717C>T	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.3891G>A	6.37:g.51890717C>T						PKHD1_uc003pai.2_Silent_p.A1297A	p.A1297A	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			32	4167	-	Lung NSC(77;0.0605)		1297			Extracellular (Potential).		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	ENST00000371117.3	37	c.3891G>A	CCDS4935.1																																																																																				0.547	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694	
ENPP1	5167	broad.mit.edu	37	6	132203516	132203516	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr6:132203516G>C	ENST00000360971.2	+	21	2152	c.2132G>C	c.(2131-2133)tGt>tCt	p.C711S		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	711	Nuclease.				3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|ATP catabolic process (GO:0006200)|biomineral tissue development (GO:0031214)|bone remodeling (GO:0046849)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to insulin stimulus (GO:0032869)|generation of precursor metabolites and energy (GO:0006091)|immune response (GO:0006955)|inorganic diphosphate transport (GO:0030505)|negative regulation of cell growth (GO:0030308)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of ossification (GO:0030279)|negative regulation of protein autophosphorylation (GO:0031953)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)|regulation of bone mineralization (GO:0030500)|riboflavin metabolic process (GO:0006771)|sequestering of triglyceride (GO:0030730)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|insulin receptor binding (GO:0005158)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|protein homodimerization activity (GO:0042803)|scavenger receptor activity (GO:0005044)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	TTCTCCAACTGTCTGTACCAG	0.383																																					Colon(104;336 1535 5856 11019 33782)	uc011ecf.1																			0				upper_aerodigestive_tract(2)|ovary(2)	4						c.(2131-2133)TGT>TCT		ectonucleotide pyrophosphatase/phosphodiesterase	Amifostine(DB01143)|Ribavirin(DB00811)						106.0	105.0	105.0					6																	132203516		2203	4300	6503	SO:0001583	missense	5167				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity	g.chr6:132203516G>C	M57736	CCDS5150.2	6q22-q23	2008-02-07			ENSG00000197594	ENSG00000197594	3.1.4.1, 3.6.1.9		3356	protein-coding gene	gene with protein product		173335		NPPS, M6S1, PDNP1		1315502	Standard	NM_006208		Approved	PC-1, PCA1	uc011ecf.2	P22413	OTTHUMG00000015572	ENST00000360971.2:c.2132G>C	6.37:g.132203516G>C	ENSP00000354238:p.Cys711Ser						p.C711S	NM_006208	NP_006199	P22413	ENPP1_HUMAN		GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	21	2152	+	Breast(56;0.0505)		711			Nuclease.|Extracellular (Potential).		Q5T9R6|Q9NPZ3|Q9P1P6|Q9UP61|Q9Y6K3	Missense_Mutation	SNP	ENST00000360971.2	37	c.2132G>C	CCDS5150.2	.	.	.	.	.	.	.	.	.	.	G	19.71	3.878847	0.72294	.	.	ENSG00000197594	ENST00000360971	T	0.63417	-0.04	6.17	6.17	0.99709	DNA/RNA non-specific endonuclease (2);Extracellular Endonuclease, subunit A (2);	0.000000	0.85682	D	0.000000	T	0.81706	0.4879	M	0.89534	3.04	0.80722	D	1	D	0.71674	0.998	D	0.79784	0.993	D	0.83892	0.0285	10	0.87932	D	0	-20.0002	18.6524	0.91435	0.0:0.0:1.0:0.0	.	711	P22413	ENPP1_HUMAN	S	711	ENSP00000354238:C711S	ENSP00000354238:C711S	C	+	2	0	ENPP1	132245209	1.000000	0.71417	0.995000	0.50966	0.598000	0.36846	5.993000	0.70616	2.941000	0.99782	0.655000	0.94253	TGT		0.383	ENPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042238.2		
BBS9	27241	broad.mit.edu	37	7	33397475	33397475	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr7:33397475C>T	ENST00000242067.6	+	16	2082	c.1561C>T	c.(1561-1563)Cga>Tga	p.R521*	BBS9_ENST00000355070.2_Nonsense_Mutation_p.R516*|BBS9_ENST00000350941.3_Nonsense_Mutation_p.R481*|BBS9_ENST00000396127.2_Nonsense_Mutation_p.R486*|BBS9_ENST00000354265.4_Nonsense_Mutation_p.R486*	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	521			R -> Q (in dbSNP:rs34218557).		cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)			BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			AGGCATTCCGCGAGTTATCCA	0.323									Bardet-Biedl syndrome																													uc003tdn.1																			0				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						c.(1561-1563)CGA>TGA		parathyroid hormone-responsive B1 isoform 2							94.0	102.0	99.0					7																	33397475		2203	4299	6502	SO:0001587	stop_gained	27241	Bardet-Biedl_syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding	g.chr7:33397475C>T		CCDS5441.1, CCDS34618.1, CCDS43566.1, CCDS47572.1	7p14	2014-06-17			ENSG00000122507	ENSG00000122507			30000	protein-coding gene	gene with protein product	"""parathyroid hormone responsive B1 gene"""	607968				16380913, 10221542	Standard	XM_005249701		Approved	B1, PTHB1	uc003tdn.1	Q3SYG4	OTTHUMG00000128659	ENST00000242067.6:c.1561C>T	7.37:g.33397475C>T	ENSP00000242067:p.Arg521*					BBS9_uc003tdo.1_Nonsense_Mutation_p.R486*|BBS9_uc003tdp.1_Nonsense_Mutation_p.R516*|BBS9_uc003tdq.1_Nonsense_Mutation_p.R481*|BBS9_uc010kwn.1_RNA|BBS9_uc003tdr.1_Nonsense_Mutation_p.R45*|BBS9_uc003tds.1_5'UTR|BBS9_uc011kao.1_Nonsense_Mutation_p.R399*	p.R521*	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	GBM - Glioblastoma multiforme(11;0.0894)		16	2074	+			521					E9PDC9|P78514|Q7KYS6|Q7KYS7|Q8N570|Q99844|Q99854|Q9Y699|Q9Y6A0	Nonsense_Mutation	SNP	ENST00000242067.6	37	c.1561C>T	CCDS43566.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	44|44	10.807248|10.807248	0.99470|0.99470	.|.	.|.	ENSG00000122507|ENSG00000122507	ENST00000434373|ENST00000242067;ENST00000350941;ENST00000396127;ENST00000355070;ENST00000354265;ENST00000396132	.|.	.|.	.|.	5.94|5.94	4.1|4.1	0.47936|0.47936	.|.	.|0.128329	.|0.49305	.|D	.|0.000159	T|.	0.42200|.	0.1192|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.24941|.	-1.0146|.	4|.	.|0.02654	.|T	.|1	-16.6125|-16.6125	14.6331|14.6331	0.68671|0.68671	0.4657:0.5343:0.0:0.0|0.4657:0.5343:0.0:0.0	.|.	.|.	.|.	.|.	V|X	87|521;481;486;516;486;521	.|.	.|ENSP00000242067:R521X	A|R	+|+	2|1	0|2	BBS9|BBS9	33364000|33364000	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.987000|0.987000	0.75469|0.75469	1.220000|1.220000	0.32491|0.32491	0.803000|0.803000	0.34113|0.34113	-0.294000|-0.294000	0.09567|0.09567	GCG|CGA		0.323	BBS9-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329064.1		
AOAH	313	broad.mit.edu	37	7	36571797	36571797	+	Missense_Mutation	SNP	C	C	T	rs371233935		TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr7:36571797C>T	ENST00000258749.5	-	18	1780	c.1381G>A	c.(1381-1383)Ggc>Agc	p.G461S	AOAH_ENST00000491444.1_5'UTR|AOAH_ENST00000431169.1_Missense_Mutation_p.G461S|AOAH_ENST00000538464.1_Missense_Mutation_p.G183S|AOAH_ENST00000535891.1_Missense_Mutation_p.G429S	NM_001637.3	NP_001628.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	461					inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|lipopolysaccharide metabolic process (GO:0008653)|negative regulation of inflammatory response (GO:0050728)	extracellular region (GO:0005576)	acyloxyacyl hydrolase activity (GO:0050528)|catalytic activity (GO:0003824)|lipoprotein lipase activity (GO:0004465)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						GACATCCAGCCGTGGCAGGGG	0.512																																						uc003tfh.3																			0				skin(1)	1						c.(1381-1383)GGC>AGC		acyloxyacyl hydrolase precursor		C	SER/GLY,SER/GLY,SER/GLY	0,4406		0,0,2203	104.0	100.0	101.0		1381,1285,1381	4.2	0.9	7		101	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	AOAH	NM_001177506.1,NM_001177507.1,NM_001637.3	56,56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	461/689,429/544,461/576	36571797	1,13005	2203	4300	6503	SO:0001583	missense	313				inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity	g.chr7:36571797C>T	BC025698	CCDS5448.1, CCDS55102.1, CCDS75584.1	7p14-p12	2014-03-14			ENSG00000136250	ENSG00000136250	3.1.1.77		548	protein-coding gene	gene with protein product		102593				1883828	Standard	NM_001637		Approved		uc022abu.1	P28039	OTTHUMG00000023566	ENST00000258749.5:c.1381G>A	7.37:g.36571797C>T	ENSP00000258749:p.Gly461Ser					AOAH_uc010kxf.2_Missense_Mutation_p.G461S|AOAH_uc011kba.1_Missense_Mutation_p.G429S	p.G461S	NM_001637	NP_001628	P28039	AOAH_HUMAN			18	1782	-			461					A4D1Y5|B7Z490|Q53F13	Missense_Mutation	SNP	ENST00000258749.5	37	c.1381G>A	CCDS5448.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.058504	0.76074	0.0	1.16E-4	ENSG00000136250	ENST00000538464;ENST00000535891;ENST00000258749;ENST00000431169;ENST00000544647	T;T;T;T	0.13089	2.62;2.62;2.62;2.62	5.03	4.15	0.48705	Esterase, SGNH hydrolase-type (1);Lipase, GDSL (1);	0.171732	0.39985	N	0.001219	T	0.33352	0.0860	.	.	.	0.39887	D	0.973725	P;D;D	0.89917	0.881;1.0;0.988	B;D;P	0.65987	0.302;0.94;0.691	T	0.17167	-1.0378	9	0.62326	D	0.03	.	11.2113	0.48799	0.0:0.9131:0.0:0.0869	.	429;461;461	B7Z490;C9J8T1;P28039	.;.;AOAH_HUMAN	S	183;429;461;461;461	ENSP00000439283:G183S;ENSP00000441101:G429S;ENSP00000258749:G461S;ENSP00000405683:G461S	ENSP00000258749:G461S	G	-	1	0	AOAH	36538322	0.566000	0.26618	0.928000	0.36995	1.000000	0.99986	0.802000	0.27069	1.495000	0.48549	0.655000	0.94253	GGC		0.512	AOAH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219829.2	NM_001637	
GPR141	353345	broad.mit.edu	37	7	37780909	37780909	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr7:37780909G>T	ENST00000447769.1	+	4	1203	c.914G>T	c.(913-915)cGt>cTt	p.R305L	GPR141_ENST00000334425.1_Missense_Mutation_p.R305L|EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000461610.1_Intron			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	305						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R305L(2)|p.R305H(1)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GTTTTGTGCCGTTAGCCACAA	0.363																																						uc003tfm.1																			3	Substitution - Missense(3)	p.R305H(1)	ovary(1)|prostate(1)|endometrium(1)	ovary(3)	3						c.(913-915)CGT>CTT		G protein-coupled receptor 141							59.0	57.0	58.0					7																	37780909		2203	4300	6503	SO:0001583	missense	353345					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr7:37780909G>T	AY288420	CCDS5451.1	7p14.1	2012-08-21			ENSG00000187037	ENSG00000187037		"""GPCR / Class A : Orphans"""	19997	protein-coding gene	gene with protein product		609045				12679517, 14623098	Standard	NM_181791		Approved	PGR13	uc003tfm.1	Q7Z602	OTTHUMG00000102105	ENST00000447769.1:c.914G>T	7.37:g.37780909G>T	ENSP00000390410:p.Arg305Leu					uc003tfl.2_Intron	p.R305L	NM_181791	NP_861456	Q7Z602	GP141_HUMAN			1	914	+			305			Cytoplasmic (Potential).		A4D1X7|Q0VAR5|Q86SP3	Missense_Mutation	SNP	ENST00000447769.1	37	c.914G>T	CCDS5451.1	.	.	.	.	.	.	.	.	.	.	G	12.59	1.982482	0.34942	.	.	ENSG00000187037	ENST00000447769;ENST00000334425	T;T	0.18810	2.19;2.19	5.2	-3.2	0.05156	.	1.171940	0.06092	N	0.663753	T	0.18593	0.0446	L	0.36672	1.1	0.09310	N	1	B	0.25007	0.116	B	0.23716	0.048	T	0.40175	-0.9577	10	0.72032	D	0.01	.	12.685	0.56942	0.6984:0.0:0.3016:0.0	.	305	Q7Z602	GP141_HUMAN	L	305	ENSP00000390410:R305L;ENSP00000334540:R305L	ENSP00000334540:R305L	R	+	2	0	GPR141	37747434	0.049000	0.20398	0.015000	0.15790	0.137000	0.21094	-0.041000	0.12084	-0.768000	0.04626	0.655000	0.94253	CGT		0.363	GPR141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219943.2	NM_181791	
EPDR1	54749	broad.mit.edu	37	7	37989842	37989842	+	Silent	SNP	T	T	C			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr7:37989842T>C	ENST00000199448.4	+	3	898	c.519T>C	c.(517-519)taT>taC	p.Y173Y	EPDR1_ENST00000476620.1_Silent_p.Y71Y|EPDR1_ENST00000425345.1_Silent_p.Y112Y|EPDR1_ENST00000423717.1_3'UTR|EPDR1_ENST00000559325.1_Silent_p.Y293Y	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN	ependymin related 1	173					cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						AGGATTGCTATCCTGTCCAGG	0.388																																						uc003tfp.2																			0				upper_aerodigestive_tract(1)	1						c.(877-879)TAT>TAC		ependymin related protein 1 precursor							63.0	65.0	64.0					7																	37989842		2203	4300	6503	SO:0001819	synonymous_variant	54749				cell-matrix adhesion	extracellular region	calcium ion binding	g.chr7:37989842T>C	BC018299	CCDS5454.1, CCDS5454.2, CCDS59051.1, CCDS59052.1	7p14.1	2013-07-31	2013-07-31		ENSG00000086289	ENSG00000086289			17572	protein-coding gene	gene with protein product			"""ependymin related protein 1 (zebrafish)"""			11749721, 11248421	Standard	NM_001242946		Approved	MERP-1, MERP1, UCC1, EPDR	uc003tfp.4	Q9UM22	OTTHUMG00000102187	ENST00000199448.4:c.519T>C	7.37:g.37989842T>C						EPDR1_uc003tfq.2_3'UTR|EPDR1_uc010kxh.2_Silent_p.Y112Y	p.Y293Y	NM_017549	NP_060019	Q9UM22	EPDR1_HUMAN			3	898	+			173					A8K4C0|C9JYS3|Q06BL0|Q99M77	Silent	SNP	ENST00000199448.4	37	c.879T>C	CCDS5454.2																																																																																				0.388	EPDR1-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220037.3	NM_017549	
VSTM2A	222008	broad.mit.edu	37	7	54612435	54612435	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr7:54612435G>A	ENST00000407838.3	+	2	606	c.200G>A	c.(199-201)cGg>cAg	p.R67Q	VSTM2A_ENST00000402026.2_Missense_Mutation_p.R66Q|VSTM2A_ENST00000402613.3_Missense_Mutation_p.R67Q|VSTM2A_ENST00000302287.3_Missense_Mutation_p.R67Q|VSTM2A_ENST00000404951.1_Missense_Mutation_p.R67Q	NM_182546.2	NP_872352.2	Q8TAG5	VTM2A_HUMAN	V-set and transmembrane domain containing 2A	67	Ig-like V-type.					extracellular region (GO:0005576)				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			TGGTTCCTGCGGGGGCCGGAG	0.716																																						uc010kzf.2																			0					0						c.(199-201)CGG>CAG		V-set and transmembrane domain containing 2							24.0	26.0	25.0					7																	54612435		2203	4298	6501	SO:0001583	missense	222008					extracellular region		g.chr7:54612435G>A	BC028404	CCDS5512.2, CCDS75604.1	7p11.2	2013-01-11	2007-08-10	2007-08-10	ENSG00000170419	ENSG00000170419		"""Immunoglobulin superfamily / V-set domain containing"""	28499	protein-coding gene	gene with protein product			"""V-set and transmembrane domain containing 2"""	VSTM2		12477932	Standard	XM_006715663		Approved	MGC33530	uc010kzf.3	Q8TAG5	OTTHUMG00000129271	ENST00000407838.3:c.200G>A	7.37:g.54612435G>A	ENSP00000384967:p.Arg67Gln					VSTM2A_uc010kze.2_Missense_Mutation_p.R67Q|VSTM2A_uc003tqc.3_Missense_Mutation_p.R67Q	p.R67Q	NM_182546	NP_872352	Q8TAG5	VTM2A_HUMAN	STAD - Stomach adenocarcinoma(5;0.0525)		2	605	+			67			Ig-like V-type.		A4D2E9|B5MC94	Missense_Mutation	SNP	ENST00000407838.3	37	c.200G>A	CCDS5512.2	.	.	.	.	.	.	.	.	.	.	G	17.71	3.456973	0.63401	.	.	ENSG00000170419	ENST00000302287;ENST00000407838;ENST00000404951;ENST00000402026;ENST00000402613	T;T;T;T;T	0.60920	0.15;0.15;0.15;0.15;0.15	5.42	5.42	0.78866	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.227351	0.34603	N	0.003840	T	0.55386	0.1917	L	0.52573	1.65	0.31732	N	0.636876	B;P;D	0.58620	0.119;0.89;0.983	B;B;B	0.43916	0.013;0.182;0.436	T	0.67933	-0.5542	10	0.62326	D	0.03	-5.7519	14.6885	0.69068	0.0:0.0:1.0:0.0	.	67;67;67	Q8TAG5;Q8TAG5-2;B5MCX6	VTM2A_HUMAN;.;.	Q	67;67;67;66;67	ENSP00000303108:R67Q;ENSP00000384967:R67Q;ENSP00000384701:R67Q;ENSP00000385933:R66Q;ENSP00000384103:R67Q	ENSP00000303108:R67Q	R	+	2	0	VSTM2A	54579929	1.000000	0.71417	0.999000	0.59377	0.345000	0.29048	5.038000	0.64177	2.532000	0.85374	0.542000	0.68232	CGG		0.716	VSTM2A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318694.1	NM_182546	
EGFR	1956	broad.mit.edu	37	7	55233043	55233043	+	Missense_Mutation	SNP	G	G	T	rs139236063		TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr7:55233043G>T	ENST00000275493.2	+	15	1970	c.1793G>T	c.(1792-1794)gGa>gTa	p.G598V	EGFR_ENST00000344576.2_Missense_Mutation_p.G598V|EGFR_ENST00000455089.1_Missense_Mutation_p.G553V|EGFR_ENST00000342916.3_Missense_Mutation_p.G598V|EGFR_ENST00000442591.1_Missense_Mutation_p.G598V|EGFR_ENST00000454757.2_Missense_Mutation_p.G545V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	598					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.G598V(15)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	TGCCCGGCAGGAGTCATGGGA	0.567		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	A|O|Mis	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	glioma|NSCLC		15	Substitution - Missense(15)	p.G598V(16)	central_nervous_system(15)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571						c.(1792-1794)GGA>GTA		epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						96.0	84.0	88.0					7																	55233043		2203	4300	6503	SO:0001583	missense	1956	Lung_Cancer_Familial_Clustering_of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55233043G>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.1793G>T	7.37:g.55233043G>T	ENSP00000275493:p.Gly598Val	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqi.2_Missense_Mutation_p.G598V|EGFR_uc003tqj.2_Missense_Mutation_p.G598V|EGFR_uc010kzg.1_Missense_Mutation_p.G553V|EGFR_uc011kco.1_Missense_Mutation_p.G545V|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_RNA|EGFR_uc003tqn.2_RNA	p.G598V	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		15	2039	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		598			Approximate.|Extracellular (Potential).		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.1793G>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.567929	0.86439	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06;1.06	5.87	5.87	0.94306	Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	T	0.75671	0.3881	H	0.94503	3.545	0.80722	D	1	D;D;D;D	0.89917	0.991;0.999;0.998;1.0	P;D;D;D	0.91635	0.729;0.924;0.977;0.999	T	0.81858	-0.0739	10	0.72032	D	0.01	.	18.7698	0.91887	0.0:0.0:1.0:0.0	.	553;598;598;598	Q504U8;P00533;P00533-3;P00533-4	.;EGFR_HUMAN;.;.	V	553;598;468;598;598;598;545;392	ENSP00000415559:G553V;ENSP00000342376:G598V;ENSP00000345973:G598V;ENSP00000275493:G598V;ENSP00000410031:G598V;ENSP00000395243:G545V	ENSP00000275493:G598V	G	+	2	0	EGFR	55200537	1.000000	0.71417	0.454000	0.27019	0.665000	0.39181	7.905000	0.87416	2.785000	0.95823	0.655000	0.94253	GGA		0.567	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	
EGFR	1956	broad.mit.edu	37	7	55233091	55233091	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr7:55233091G>A	ENST00000275493.2	+	15	2018	c.1841G>A	c.(1840-1842)gGc>gAc	p.G614D	EGFR_ENST00000344576.2_Missense_Mutation_p.G614D|EGFR_ENST00000455089.1_Missense_Mutation_p.G569D|EGFR_ENST00000342916.3_Missense_Mutation_p.G614D|EGFR_ENST00000442591.1_Missense_Mutation_p.G614D|EGFR_ENST00000454757.2_Missense_Mutation_p.G561D	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	614					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	GCAGACGCCGGCCATGTGTGC	0.537		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	A|O|Mis	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	glioma|NSCLC		0				lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571						c.(1840-1842)GGC>GAC		epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						77.0	69.0	72.0					7																	55233091		2203	4300	6503	SO:0001583	missense	1956	Lung_Cancer_Familial_Clustering_of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55233091G>A		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.1841G>A	7.37:g.55233091G>A	ENSP00000275493:p.Gly614Asp	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqi.2_Missense_Mutation_p.G614D|EGFR_uc003tqj.2_Missense_Mutation_p.G614D|EGFR_uc010kzg.1_Missense_Mutation_p.G569D|EGFR_uc011kco.1_Missense_Mutation_p.G561D|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_RNA|EGFR_uc003tqn.2_RNA	p.G614D	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		15	2087	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		614			Extracellular (Potential).		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.1841G>A	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	0.052	-1.246297	0.01481	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05;1.05	5.57	-5.53	0.02552	Growth factor, receptor (1);	1.178430	0.05765	N	0.605579	T	0.15609	0.0376	N	0.03224	-0.385	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.0;0.001;0.0	T	0.40646	-0.9552	10	0.02654	T	1	.	10.1392	0.42725	0.3353:0.1157:0.549:0.0	.	569;614;614;614	Q504U8;P00533;P00533-3;P00533-4	.;EGFR_HUMAN;.;.	D	569;614;484;614;614;614;561;408	ENSP00000415559:G569D;ENSP00000342376:G614D;ENSP00000345973:G614D;ENSP00000275493:G614D;ENSP00000410031:G614D;ENSP00000395243:G561D	ENSP00000275493:G614D	G	+	2	0	EGFR	55200585	0.000000	0.05858	0.000000	0.03702	0.219000	0.24729	0.073000	0.14640	-1.192000	0.02691	0.655000	0.94253	GGC		0.537	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	
KIAA1324L	222223	broad.mit.edu	37	7	86548556	86548556	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr7:86548556G>T	ENST00000450689.2	-	11	1655	c.1470C>A	c.(1468-1470)aaC>aaA	p.N490K	KIAA1324L_ENST00000490995.1_5'UTR|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.N323K|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.N490K|KIAA1324L_ENST00000297222.6_Missense_Mutation_p.N250K	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	490						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					GGATATGCAAGTTTAAGATCA	0.373																																						uc011kha.1																			0				ovary(6)|skin(1)	7						c.(1468-1470)AAC>AAA		hypothetical protein LOC222223 isoform 1							68.0	68.0	68.0					7																	86548556		2203	4300	6503	SO:0001583	missense	222223					integral to membrane		g.chr7:86548556G>T	AK055902	CCDS34677.1, CCDS47632.1, CCDS34677.2	7q21.12	2008-09-18			ENSG00000164659	ENSG00000164659			21945	protein-coding gene	gene with protein product	"""EIG121-like"""	614048					Standard	NM_001142749		Approved	FLJ31340, EIG121L	uc011kha.2	A8MWY0	OTTHUMG00000153995	ENST00000450689.2:c.1470C>A	7.37:g.86548556G>T	ENSP00000413445:p.Asn490Lys					KIAA1324L_uc003uif.1_Missense_Mutation_p.N250K|KIAA1324L_uc011kgz.1_Missense_Mutation_p.N376K|KIAA1324L_uc003uie.2_Missense_Mutation_p.N323K	p.N490K	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN			11	1655	-	Esophageal squamous(14;0.0058)		490			Extracellular (Potential).		A4D1C9|B4DJV3|Q17RI6|Q96DP2	Missense_Mutation	SNP	ENST00000450689.2	37	c.1470C>A	CCDS47632.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.6|20.6	4.025872|4.025872	0.75390|0.75390	.|.	.|.	ENSG00000164659|ENSG00000164659	ENST00000423294|ENST00000450689;ENST00000297222;ENST00000444627;ENST00000416314	.|T;T;T;T	.|0.41065	.|1.01;1.01;1.01;1.01	6.08|6.08	3.32|3.32	0.38043|0.38043	.|Growth factor, receptor (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.39517|0.39517	0.1081|0.1081	L|L	0.60455|0.60455	1.87|1.87	0.58432|0.58432	D|D	0.999992|0.999992	.|P;P;P	.|0.52316	.|0.868;0.952;0.952	.|P;P;B	.|0.48952	.|0.596;0.523;0.385	T|T	0.43278|0.43278	-0.9401|-0.9401	5|10	.|0.06236	.|T	.|0.91	.|.	8.802|8.802	0.34914|0.34914	0.2847:0.0:0.7153:0.0|0.2847:0.0:0.7153:0.0	.|.	.|490;250;323	.|A8MWY0;A8MWY0-2;B4DJV3	.|K132L_HUMAN;.;.	I|K	451|490;250;490;323	.|ENSP00000413445:N490K;ENSP00000297222:N250K;ENSP00000397377:N490K;ENSP00000402390:N323K	.|ENSP00000297222:N250K	L|N	-|-	1|3	0|2	KIAA1324L|KIAA1324L	86386492|86386492	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.999000|0.999000	0.98932|0.98932	2.999000|2.999000	0.49473|0.49473	0.455000|0.455000	0.26910|0.26910	0.655000|0.655000	0.94253|0.94253	CTT|AAC		0.373	KIAA1324L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333372.3	NM_152748	
FAM200A	221786	broad.mit.edu	37	7	99145995	99145995	+	Silent	SNP	A	A	C			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr7:99145995A>C	ENST00000449309.1	-	2	415	c.36T>G	c.(34-36)tcT>tcG	p.S12S		NM_145111.3	NP_659802.1	Q8TCP9	F200A_HUMAN	family with sequence similarity 200, member A	12						integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			endometrium(1)|kidney(5)|large_intestine(2)|ovary(2)|skin(1)	11						TACCCCCTGGAGACAAATCTG	0.453																																						uc003ura.2																			0					0						c.(34-36)TCT>TCG		hypothetical protein LOC221786							86.0	90.0	89.0					7																	99145995		2203	4300	6503	SO:0001819	synonymous_variant	221786					integral to membrane	nucleic acid binding	g.chr7:99145995A>C		CCDS5668.1	7q22.1	2010-02-22	2010-02-22	2010-02-22	ENSG00000221909	ENSG00000221909			25401	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 38"""	C7orf38		10607616	Standard	NM_145111		Approved	FLJ36794, DKFZp727G131	uc003ura.3	Q8TCP9	OTTHUMG00000156723	ENST00000449309.1:c.36T>G	7.37:g.99145995A>C						FAM200A_uc003urb.2_Silent_p.S12S	p.S12S	NM_145111	NP_659802	Q8TCP9	F200A_HUMAN			2	375	-			12			Extracellular (Potential).		A4D293|A8K3V9|B2RD92|C9J6A8|D6W5T2|Q8N9P3	Silent	SNP	ENST00000449309.1	37	c.36T>G	CCDS5668.1																																																																																				0.453	FAM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345467.1	NM_145111	
FBXO24	26261	broad.mit.edu	37	7	100197689	100197689	+	Silent	SNP	C	C	T			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr7:100197689C>T	ENST00000241071.6	+	9	1564	c.1242C>T	c.(1240-1242)tgC>tgT	p.C414C	PCOLCE-AS1_ENST00000544873.1_RNA|FBXO24_ENST00000468962.1_Silent_p.C402C|FBXO24_ENST00000427939.2_Silent_p.C452C|PCOLCE-AS1_ENST00000442166.2_RNA|PCOLCE_ENST00000223061.5_5'Flank|PCOLCE-AS1_ENST00000446022.1_RNA|FBXO24_ENST00000360609.2_3'UTR	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	414					protein ubiquitination (GO:0016567)	ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CCCTGTGGTGCGGCCTCAACC	0.692																																						uc003uvm.1																			0				ovary(3)|skin(1)	4						c.(1240-1242)TGC>TGT		F-box only protein 24 isoform 1							27.0	29.0	28.0					7																	100197689		2203	4300	6503	SO:0001819	synonymous_variant	26261					ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr7:100197689C>T	AF174604	CCDS5698.1, CCDS5699.1, CCDS5699.2, CCDS55138.1	7q22	2005-10-07	2004-06-15		ENSG00000106336	ENSG00000106336		"""F-boxes /  ""other"""""	13595	protein-coding gene	gene with protein product		609097	"""F-box only protein 24"""			10531035, 10531037	Standard	NM_012172		Approved	FBX24	uc011kjz.1	O75426	OTTHUMG00000159543	ENST00000241071.6:c.1242C>T	7.37:g.100197689C>T						FBXO24_uc003uvn.1_Intron|uc011kjy.1_RNA|FBXO24_uc011kjz.1_Silent_p.C452C|FBXO24_uc011kka.1_Silent_p.C402C|PCOLCE_uc011kkb.1_5'Flank|PCOLCE_uc003uvo.2_5'Flank|PCOLCE_uc010lhb.1_5'Flank	p.C414C	NM_033506	NP_277041	O75426	FBX24_HUMAN			9	1535	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		414			RCC1.		A4D2D4|B4DX91|B4DY42|Q9H0G1	Silent	SNP	ENST00000241071.6	37	c.1242C>T	CCDS5698.1																																																																																				0.692	FBXO24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356104.1		
SVOPL	136306	broad.mit.edu	37	7	138314843	138314843	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr7:138314843G>T	ENST00000419765.3	-	9	847	c.814C>A	c.(814-816)Cta>Ata	p.L272I	SVOPL_ENST00000288513.5_Missense_Mutation_p.L120I|SVOPL_ENST00000463557.1_5'Flank|SVOPL_ENST00000436657.1_Missense_Mutation_p.L120I|SVOPL_ENST00000421622.1_Missense_Mutation_p.L152I	NM_001139456.1	NP_001132928.1	Q8N434	SVOPL_HUMAN	SVOP-like	272						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						GCATCCAATAGGTCTGCAAAT	0.393																																						uc011kqh.1																			0					0						c.(814-816)CTA>ATA		SVOP-like isoform 1							190.0	162.0	172.0					7																	138314843		2203	4300	6503	SO:0001583	missense	136306					integral to membrane	transmembrane transporter activity	g.chr7:138314843G>T	BC036796	CCDS5848.1, CCDS47721.1	7q34	2011-07-12	2007-04-04		ENSG00000157703	ENSG00000157703			27034	protein-coding gene	gene with protein product		611700	"""SV2 related protein homolog (rat)-like"""				Standard	NM_001139456		Approved	MGC46715	uc011kqh.2	Q8N434	OTTHUMG00000155870	ENST00000419765.3:c.814C>A	7.37:g.138314843G>T	ENSP00000405482:p.Leu272Ile					SVOPL_uc003vue.2_Missense_Mutation_p.L120I	p.L272I	NM_001139456	NP_001132928	Q8N434	SVOPL_HUMAN			9	814	-			272						Missense_Mutation	SNP	ENST00000419765.3	37	c.814C>A	CCDS47721.1	.	.	.	.	.	.	.	.	.	.	G	19.76	3.888279	0.72524	.	.	ENSG00000157703	ENST00000288513;ENST00000421622;ENST00000436657;ENST00000419765	T;T;T;T	0.60424	0.19;0.19;0.19;0.26	5.43	2.58	0.30949	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.72763	0.3501	M	0.78637	2.42	0.39783	D	0.972329	D;D	0.89917	0.997;1.0	D;D	0.83275	0.971;0.996	T	0.73830	-0.3859	10	0.72032	D	0.01	-10.6386	9.7058	0.40214	0.2296:0.0:0.7704:0.0	.	272;120	Q8N434;Q8N434-2	SVOPL_HUMAN;.	I	120;152;120;272	ENSP00000288513:L120I;ENSP00000412830:L152I;ENSP00000417018:L120I;ENSP00000405482:L272I	ENSP00000288513:L120I	L	-	1	2	SVOPL	137965383	1.000000	0.71417	0.672000	0.29872	0.993000	0.82548	1.669000	0.37492	0.377000	0.24735	0.650000	0.86243	CTA		0.393	SVOPL-005	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342092.4	NM_174959	
PRSS3P2	154754	broad.mit.edu	37	7	142481789	142481789	+	RNA	SNP	T	T	C	rs374686280		TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr7:142481789T>C	ENST00000603901.1	+	0	468					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										ACTACCCAGATGAGCTGCAGT	0.488																																						uc011ksq.1																			0					0						c.(466-468)GAT>GAC		SubName: Full=Protease, serine, 3; Flags: Fragment;																																						154754							g.chr7:142481789T>C			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142481789T>C						uc003vzp.2_Intron|uc011ksh.1_Intron|uc011ksi.1_Intron|uc003vzw.1_Intron|uc010loj.1_Intron|uc003wad.2_Intron|uc003wag.1_Intron|uc003wan.1_Intron	p.D156D	NR_001296						4	551	+									Silent	SNP	ENST00000603901.1	37	c.468T>C																																																																																					0.488	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296	
NOS3	4846	broad.mit.edu	37	7	150699051	150699051	+	Missense_Mutation	SNP	C	C	T	rs142781987		TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr7:150699051C>T	ENST00000484524.1	+	12	1645	c.1645C>T	c.(1645-1647)Cgg>Tgg	p.R549W	NOS3_ENST00000467517.1_Missense_Mutation_p.R549W|NOS3_ENST00000297494.3_Missense_Mutation_p.R549W|NOS3_ENST00000461406.1_Missense_Mutation_p.R343W	NM_001160111.1	NP_001153583.1	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTTTGATCCCCGGGTAGGGCT	0.612																																						uc003wif.2																			0				central_nervous_system(5)|large_intestine(2)|skin(1)	8						c.(1645-1647)CGG>TGG		nitric oxide synthase 3 isoform 1	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	C	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	30.0	34.0	33.0		1645,1645,1645,1645	4.8	1.0	7	dbSNP_134	33	1,8595		0,1,4297	no	missense,missense,missense,missense	NOS3	NM_000603.4,NM_001160109.1,NM_001160110.1,NM_001160111.1	101,101,101,101	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	549/1204,549/597,549/615,549/630	150699051	1,13001	2203	4298	6501	SO:0001583	missense	4846				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr7:150699051C>T		CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"""endothelial nitric oxide synthase"""	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000484524.1:c.1645C>T	7.37:g.150699051C>T	ENSP00000420215:p.Arg549Trp					NOS3_uc011kuy.1_Missense_Mutation_p.R343W|NOS3_uc011kuz.1_Missense_Mutation_p.R549W|NOS3_uc011kva.1_Missense_Mutation_p.R549W|NOS3_uc011kvb.1_Missense_Mutation_p.R549W	p.R549W	NM_000603	NP_000594	P29474	NOS3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	13	1941	+	all_neural(206;0.219)		549			Flavodoxin-like.		Q495E5	Missense_Mutation	SNP	ENST00000484524.1	37	c.1645C>T	CCDS55182.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.282033	0.80692	0.0	1.16E-4	ENSG00000164867	ENST00000297494;ENST00000461406;ENST00000484524;ENST00000467517	T;T;T;T	0.74209	-0.82;-0.82;-0.82;-0.82	4.8	4.8	0.61643	Flavodoxin/nitric oxide synthase (2);	0.137657	0.31859	N	0.006952	D	0.85745	0.5768	M	0.84433	2.695	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.999;0.997;0.998;0.998	D;D;D;D;D	0.73708	0.96;0.97;0.981;0.93;0.948	D	0.87463	0.2409	10	0.87932	D	0	-13.858	10.9263	0.47193	0.1872:0.8128:0.0:0.0	.	549;549;549;343;549	A0S0A6;E9PFR2;A0S0A8;E7ESA7;P29474	.;.;.;.;NOS3_HUMAN	W	549;343;549;549	ENSP00000297494:R549W;ENSP00000417143:R343W;ENSP00000420215:R549W;ENSP00000420551:R549W	ENSP00000297494:R549W	R	+	1	2	NOS3	150329984	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.666000	0.46799	2.376000	0.81061	0.655000	0.94253	CGG		0.612	NOS3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351550.1	NM_000603	
NEIL2	252969	broad.mit.edu	37	8	11643604	11643604	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr8:11643604G>A	ENST00000284503.6	+	5	1420	c.821G>A	c.(820-822)gGc>gAc	p.G274D	NEIL2_ENST00000455213.2_Missense_Mutation_p.G274D|NEIL2_ENST00000528323.1_Missense_Mutation_p.G158D|NEIL2_ENST00000436750.3_Missense_Mutation_p.G274D|NEIL2_ENST00000403422.3_Missense_Mutation_p.G213D	NM_145043.2	NP_659480.1	Q969S2	NEIL2_HUMAN	nei endonuclease VIII-like 2 (E. coli)	274					base-excision repair (GO:0006284)|nucleotide-excision repair (GO:0006289)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	damaged DNA binding (GO:0003684)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	all_epithelial(15;0.103)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.166)		TGGCTGCAGGGCAAGTTCCAA	0.607								Base excision repair (BER), DNA glycosylases																														uc003wug.2																			0					0						c.(820-822)GGC>GAC	BER_DNA_glycosylases	nei like 2 isoform a							81.0	77.0	79.0					8																	11643604		2203	4300	6503	SO:0001583	missense	252969				base-excision repair|nucleotide-excision repair	nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|hydrolase activity, hydrolyzing N-glycosyl compounds|zinc ion binding	g.chr8:11643604G>A	AK056206	CCDS5984.1, CCDS47802.1, CCDS47803.1	8p23.1	2010-04-27	2010-04-27		ENSG00000154328	ENSG00000154328			18956	protein-coding gene	gene with protein product		608933	"""nei like 2 (E. coli)"""			12097317, 17686777	Standard	NM_145043		Approved	NEH2, FLJ31644, MGC2832, MGC4505	uc003wue.2	Q969S2	OTTHUMG00000090753	ENST00000284503.6:c.821G>A	8.37:g.11643604G>A	ENSP00000284503:p.Gly274Asp					NEIL2_uc003wue.2_Missense_Mutation_p.G274D|NEIL2_uc003wuf.2_Missense_Mutation_p.G213D|NEIL2_uc011kxd.1_Missense_Mutation_p.G158D	p.G274D	NM_145043	NP_659480	Q969S2	NEIL2_HUMAN	STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.166)	5	1496	+	all_epithelial(15;0.103)		274					B4DFR7|Q7Z3Q7|Q8N842|Q8NG52	Missense_Mutation	SNP	ENST00000284503.6	37	c.821G>A	CCDS5984.1	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.729441	0.00687	.	.	ENSG00000154328	ENST00000455213;ENST00000403422;ENST00000528323;ENST00000436750;ENST00000284503;ENST00000382309	T;T;T;T;T	0.16743	3.26;3.22;2.32;3.26;3.26	5.34	-6.53	0.01866	.	0.509754	0.24571	N	0.037395	T	0.07143	0.0181	N	0.12746	0.255	0.18873	N	0.999983	B;B	0.12013	0.0;0.005	B;B	0.14578	0.002;0.011	T	0.19844	-1.0293	10	0.37606	T	0.19	-7.1442	11.1437	0.48417	0.5912:0.0863:0.3226:0.0	.	158;274	B4DFR7;Q969S2	.;NEIL2_HUMAN	D	274;213;158;274;274;259	ENSP00000397538:G274D;ENSP00000384070:G213D;ENSP00000435657:G158D;ENSP00000394023:G274D;ENSP00000284503:G274D	ENSP00000284503:G274D	G	+	2	0	NEIL2	11681013	0.216000	0.23585	0.424000	0.26647	0.051000	0.14879	-0.417000	0.07088	-0.929000	0.03757	-0.794000	0.03295	GGC		0.607	NEIL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207583.3	NM_145043	
DOCK5	80005	broad.mit.edu	37	8	25191663	25191663	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr8:25191663G>A	ENST00000276440.7	+	21	2187	c.2143G>A	c.(2143-2145)Gta>Ata	p.V715I		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	715					positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		TTTTAATCCTGTACTTGAAAC	0.368																																					Pancreas(145;34 1887 3271 10937 30165)	uc003xeg.2																			0				ovary(3)	3						c.(2143-2145)GTA>ATA		dedicator of cytokinesis 5							154.0	151.0	152.0					8																	25191663		2203	4300	6503	SO:0001583	missense	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25191663G>A		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.2143G>A	8.37:g.25191663G>A	ENSP00000276440:p.Val715Ile					DOCK5_uc010luf.1_RNA|DOCK5_uc003xeh.1_Missense_Mutation_p.V429I|DOCK5_uc003xei.2_Missense_Mutation_p.V285I|DOCK5_uc003xej.2_RNA	p.V715I	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	21	2280	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	715					B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	ENST00000276440.7	37	c.2143G>A	CCDS6047.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.300182|5.300182	0.95574|0.95574	.|.	.|.	ENSG00000147459|ENSG00000147459	ENST00000444569|ENST00000276440	.|T	.|0.62788	.|-0.0	6.04|6.04	6.04|6.04	0.98038|0.98038	.|Armadillo-type fold (1);	.|0.127009	.|0.52532	.|D	.|0.000067	T|T	0.82001|0.82001	0.4942|0.4942	M|M	0.92555|0.92555	3.32|3.32	0.80722|0.80722	D|D	1|1	.|P;P;P	.|0.50710	.|0.938;0.93;0.938	.|P;P;P	.|0.54401	.|0.589;0.751;0.589	D|D	0.85296|0.85296	0.1070|0.1070	5|10	.|0.87932	.|D	.|0	.|.	20.5792|20.5792	0.99380|0.99380	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|705;490;715	.|D3DSS6;Q68DL4;Q9H7D0	.|.;.;DOCK5_HUMAN	Y|I	486|715	.|ENSP00000276440:V715I	.|ENSP00000276440:V715I	C|V	+|+	2|1	0|0	DOCK5|DOCK5	25247580|25247580	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.983000|0.983000	0.72400|0.72400	9.869000|9.869000	0.99810|0.99810	2.873000|2.873000	0.98535|0.98535	0.561000|0.561000	0.74099|0.74099	TGT|GTA		0.368	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940	
TEX15	56154	broad.mit.edu	37	8	30700748	30700748	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr8:30700748T>C	ENST00000256246.2	-	1	5860	c.5786A>G	c.(5785-5787)cAg>cGg	p.Q1929R		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1929					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		ATATATCTTCTGCAACTTAGA	0.358																																						uc003xil.2																			0				ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7						c.(5785-5787)CAG>CGG		testis expressed 15							94.0	90.0	91.0					8																	30700748		2202	4297	6499	SO:0001583	missense	56154							g.chr8:30700748T>C	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.5786A>G	8.37:g.30700748T>C	ENSP00000256246:p.Gln1929Arg						p.Q1929R	NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	1	5786	-			1929						Missense_Mutation	SNP	ENST00000256246.2	37	c.5786A>G	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	T	7.229	0.598885	0.13939	.	.	ENSG00000133863	ENST00000256246	T	0.12361	2.69	5.73	5.73	0.89815	.	0.360253	0.23635	N	0.046086	T	0.17534	0.0421	L	0.40543	1.245	0.09310	N	1	P	0.42296	0.775	B	0.43916	0.436	T	0.07673	-1.0760	10	0.87932	D	0	.	15.0081	0.71527	0.0:0.0:0.0:1.0	.	1929	Q9BXT5	TEX15_HUMAN	R	1929	ENSP00000256246:Q1929R	ENSP00000256246:Q1929R	Q	-	2	0	TEX15	30820290	0.895000	0.30542	0.112000	0.21494	0.460000	0.32559	2.566000	0.45948	2.195000	0.70347	0.477000	0.44152	CAG		0.358	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1		
ST18	9705	broad.mit.edu	37	8	53025895	53025895	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr8:53025895G>A	ENST00000276480.7	-	26	3690	c.3007C>T	c.(3007-3009)Cct>Tct	p.P1003S		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	1003					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TCACTGATAGGTCCCTAAATG	0.463																																						uc003xqz.2																			0				ovary(4)|skin(1)	5						c.(3007-3009)CCT>TCT		suppression of tumorigenicity 18							114.0	99.0	104.0					8																	53025895		2203	4300	6503	SO:0001583	missense	9705					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:53025895G>A	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.3007C>T	8.37:g.53025895G>A	ENSP00000276480:p.Pro1003Ser					ST18_uc011ldq.1_Missense_Mutation_p.P650S|ST18_uc011ldr.1_Missense_Mutation_p.P968S|ST18_uc011lds.1_Missense_Mutation_p.P908S|ST18_uc003xra.2_Missense_Mutation_p.P1003S	p.P1003S	NM_014682	NP_055497	O60284	ST18_HUMAN			21	3163	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)	1003					Q17RY1	Missense_Mutation	SNP	ENST00000276480.7	37	c.3007C>T	CCDS6149.1	.	.	.	.	.	.	.	.	.	.	G	33	5.224833	0.95173	.	.	ENSG00000147488	ENST00000276480	T	0.57107	0.42	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.74191	0.3684	M	0.70595	2.14	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.74472	-0.3654	10	0.72032	D	0.01	-16.4475	20.417	0.99027	0.0:0.0:1.0:0.0	.	1003	O60284	ST18_HUMAN	S	1003	ENSP00000276480:P1003S	ENSP00000276480:P1003S	P	-	1	0	ST18	53188448	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.869000	0.99810	2.832000	0.97577	0.585000	0.79938	CCT		0.463	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1		
CPA6	57094	broad.mit.edu	37	8	68334862	68334862	+	Silent	SNP	G	G	A			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr8:68334862G>A	ENST00000297770.4	-	11	1406	c.1191C>T	c.(1189-1191)ttC>ttT	p.F397F	CPA6_ENST00000297769.4_Silent_p.F153F	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	397						proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			CACGTAGTTCGAAAGCAAATG	0.383																																						uc003xxq.3																			0				ovary(2)	2						c.(1189-1191)TTC>TTT		carboxypeptidase A6 isoform 1 precursor							126.0	126.0	126.0					8																	68334862		2203	4300	6503	SO:0001819	synonymous_variant	57094				proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	g.chr8:68334862G>A	AF221594	CCDS6200.1	8q12.3	2012-02-10			ENSG00000165078	ENSG00000165078			17245	protein-coding gene	gene with protein product		609562				11836249	Standard	NM_020361		Approved	CPAH	uc003xxq.4	Q8N4T0	OTTHUMG00000164575	ENST00000297770.4:c.1191C>T	8.37:g.68334862G>A						CPA6_uc003xxr.3_Silent_p.F153F	p.F397F	NM_020361	NP_065094	Q8N4T0	CBPA6_HUMAN	Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)		11	1447	-			397					Q8NEX8|Q8TDE8|Q9NRI9	Silent	SNP	ENST00000297770.4	37	c.1191C>T	CCDS6200.1																																																																																				0.383	CPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379296.2	NM_020361	
JPH1	56704	broad.mit.edu	37	8	75171694	75171694	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr8:75171694G>A	ENST00000342232.4	-	3	1224	c.1184C>T	c.(1183-1185)gCg>gTg	p.A395V		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	395	Ala-rich.				calcium ion transport into cytosol (GO:0060402)|muscle organ development (GO:0007517)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			AGCGGCCAGCGCGGCCTGGTC	0.597																																						uc003yae.2																			0				ovary(1)	1						c.(1183-1185)GCG>GTG		junctophilin 1							31.0	33.0	32.0					8																	75171694		2202	4299	6501	SO:0001583	missense	56704				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane		g.chr8:75171694G>A	AB042634	CCDS6217.1	8q21	2008-07-03			ENSG00000104369	ENSG00000104369			14201	protein-coding gene	gene with protein product		605266				10891348, 10949023	Standard	XM_005251273		Approved	JP-1	uc003yae.3	Q9HDC5	OTTHUMG00000164524	ENST00000342232.4:c.1184C>T	8.37:g.75171694G>A	ENSP00000344488:p.Ala395Val					JPH1_uc003yaf.2_Missense_Mutation_p.A395V|JPH1_uc003yag.1_Missense_Mutation_p.A259V	p.A395V	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)		3	1224	-	Breast(64;0.00576)		395			Ala-rich.|Cytoplasmic (Potential).		B2RTZ0	Missense_Mutation	SNP	ENST00000342232.4	37	c.1184C>T	CCDS6217.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.109714	0.77096	.	.	ENSG00000104369	ENST00000342232	T	0.78126	-1.15	5.1	5.1	0.69264	.	0.055496	0.64402	D	0.000001	T	0.81754	0.4889	M	0.84219	2.685	0.43317	D	0.995335	D	0.56746	0.977	P	0.46940	0.532	D	0.84781	0.0773	10	0.66056	D	0.02	.	13.5081	0.61495	0.0:0.1571:0.8429:0.0	.	395	Q9HDC5	JPH1_HUMAN	V	395	ENSP00000344488:A395V	ENSP00000344488:A395V	A	-	2	0	JPH1	75334248	1.000000	0.71417	0.733000	0.30861	0.469000	0.32828	4.943000	0.63554	2.809000	0.96659	0.655000	0.94253	GCG		0.597	JPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379102.1		
RAD54B	25788	broad.mit.edu	37	8	95412584	95412584	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr8:95412584C>T	ENST00000336148.5	-	7	1176	c.1052G>A	c.(1051-1053)gGc>gAc	p.G351D		NM_012415.3	NP_036547.1	Q9Y620	RA54B_HUMAN	RAD54 homolog B (S. cerevisiae)	351	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair via homologous recombination (GO:0000724)|mitotic recombination (GO:0006312)|reciprocal meiotic recombination (GO:0007131)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|RNA helicase activity (GO:0003724)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			TACTGGCTTGCCTCCATAGGG	0.433								Direct reversal of damage;Homologous recombination																														uc003ygk.2																			0				kidney(2)|lung(1)|skin(1)	4						c.(1051-1053)GGC>GAC	Direct_reversal_of_damage|Homologous_recombination	RAD54 homolog B							71.0	69.0	70.0					8																	95412584		2203	4300	6503	SO:0001583	missense	25788				double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding	g.chr8:95412584C>T	AF112481	CCDS6262.1, CCDS56546.1, CCDS75768.1	8q22.1	2014-08-08			ENSG00000197275	ENSG00000197275			17228	protein-coding gene	gene with protein product		604289				10362364, 10851248	Standard	NM_012415		Approved	RDH54	uc003ygk.3	Q9Y620	OTTHUMG00000133658	ENST00000336148.5:c.1052G>A	8.37:g.95412584C>T	ENSP00000336606:p.Gly351Asp					RAD54B_uc010may.1_Missense_Mutation_p.G158D|RAD54B_uc003ygl.1_RNA	p.G351D	NM_012415	NP_036547	O95073	FSBP_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00217)		7	1150	-	Breast(36;4.5e-05)		Error:Variant_position_missing_in_O95073_after_alignment					F6WBS8	Missense_Mutation	SNP	ENST00000336148.5	37	c.1052G>A	CCDS6262.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.604068	0.87157	.	.	ENSG00000197275	ENST00000336148;ENST00000546218	D	0.93426	-3.22	5.51	5.51	0.81932	DEAD-like helicase (2);SNF2-related (1);	0.047737	0.85682	D	0.000000	D	0.96710	0.8926	M	0.77406	2.37	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.96520	0.9385	10	0.54805	T	0.06	-21.3372	19.4213	0.94723	0.0:1.0:0.0:0.0	.	351	Q9Y620	RA54B_HUMAN	D	351;24	ENSP00000336606:G351D	ENSP00000336606:G351D	G	-	2	0	RAD54B	95481760	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.089000	0.71384	2.589000	0.87451	0.655000	0.94253	GGC		0.433	RAD54B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257806.3	NM_012415	
TRPS1	7227	broad.mit.edu	37	8	116616647	116616647	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr8:116616647C>G	ENST00000220888.5	-	3	1669	c.1510G>C	c.(1510-1512)Ggg>Cgg	p.G504R	TRPS1_ENST00000395715.3_Missense_Mutation_p.G517R|TRPS1_ENST00000519674.1_Missense_Mutation_p.G504R|TRPS1_ENST00000520276.1_Missense_Mutation_p.G508R|TRPS1_ENST00000519076.1_Intron			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	504					chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TTTTTAGCCCCACTCGAGCTC	0.438									Langer-Giedion syndrome																													uc003ynz.2																			0				ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7						c.(1510-1512)GGG>CGG		zinc finger transcription factor TRPS1							141.0	136.0	138.0					8																	116616647		1873	4112	5985	SO:0001583	missense	7227	Langer-Giedion_syndrome	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:116616647C>G	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.1510G>C	8.37:g.116616647C>G	ENSP00000220888:p.Gly504Arg					TRPS1_uc011lhy.1_Missense_Mutation_p.G508R|TRPS1_uc003yny.2_Missense_Mutation_p.G517R|TRPS1_uc010mcy.2_Missense_Mutation_p.G504R	p.G504R	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)		3	1969	-	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		504					B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	ENST00000220888.5	37	c.1510G>C		.	.	.	.	.	.	.	.	.	.	C	6.313	0.425820	0.11987	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000520276;ENST00000519674	D;D;D;T	0.98296	-4.85;-4.82;-4.82;0.99	5.6	4.71	0.59529	.	0.430845	0.23791	N	0.044530	D	0.92808	0.7713	N	0.03608	-0.345	0.29802	N	0.832353	B;B;B	0.27791	0.062;0.037;0.189	B;B;B	0.28784	0.094;0.043;0.059	D	0.89353	0.3662	10	0.72032	D	0.01	.	9.9458	0.41609	0.0:0.8535:0.0:0.1465	.	508;504;517	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	R	517;504;508;504	ENSP00000379065:G517R;ENSP00000220888:G504R;ENSP00000428680:G508R;ENSP00000429174:G504R	ENSP00000220888:G504R	G	-	1	0	TRPS1	116685822	0.114000	0.22134	0.989000	0.46669	0.104000	0.19210	0.925000	0.28791	2.793000	0.96121	0.591000	0.81541	GGG		0.438	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112	
DMRTA1	63951	broad.mit.edu	37	9	22447335	22447336	+	Frame_Shift_Ins	INS	-	-	A	rs111465355		TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr9:22447335_22447336insA	ENST00000325870.2	+	1	496_497	c.271_272insA	c.(271-273)tacfs	p.Y91fs		NM_022160.2	NP_071443.2	Q5VZB9	DMRTA_HUMAN	DMRT-like family A1	91					male mating behavior (GO:0060179)|ovarian follicle development (GO:0001541)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(5;4.09e-243)|Acute lymphoblastic leukemia(3;8.25e-150)|all_hematologic(3;4.25e-147)|Esophageal squamous(3;2.32e-09)|Renal(3;1.71e-07)|Breast(3;2.07e-06)|Hepatocellular(5;0.00563)		GBM - Glioblastoma multiforme(1;5.12e-278)|Lung(24;8.2e-52)|LUSC - Lung squamous cell carcinoma(38;1.46e-37)|OV - Ovarian serous cystadenocarcinoma(39;0.0517)		GGGCTGCGGCTACCCGCGGACG	0.762																																						uc003zpp.1																			0				large_intestine(1)|skin(1)	2						c.(271-273)TACfs		DMRT-like family A1				443,224,1317		147,2,147,64,94,538						2.8	1.0			3	783,442,3471		242,2,297,96,248,1463	no	codingComplex	DMRTA1	NM_022160.2		389,4,444,160,342,2001	A1A1,A1A2,A1R,A2A2,A2R,RR		26.086,33.619,28.3234				1226,666,4788				SO:0001589	frameshift_variant	63951				cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr9:22447335_22447336insA	AJ290954	CCDS6514.1	9p21.3	2008-05-15			ENSG00000176399	ENSG00000176399			13826	protein-coding gene	gene with protein product		614803					Standard	NM_022160		Approved		uc003zpp.1	Q5VZB9	OTTHUMG00000019693	ENST00000325870.2:c.272dupA	9.37:g.22447336_22447336dupA	ENSP00000319651:p.Tyr91fs						p.Y91fs	NM_022160	NP_071443	Q5VZB9	DMRTA_HUMAN		GBM - Glioblastoma multiforme(1;5.12e-278)|Lung(24;8.2e-52)|LUSC - Lung squamous cell carcinoma(38;1.46e-37)|OV - Ovarian serous cystadenocarcinoma(39;0.0517)	1	496_497	+		all_cancers(5;4.09e-243)|Acute lymphoblastic leukemia(3;8.25e-150)|all_hematologic(3;4.25e-147)|Esophageal squamous(3;2.32e-09)|Renal(3;1.71e-07)|Breast(3;2.07e-06)|Hepatocellular(5;0.00563)	91					A1L481|Q8N8Y9|Q9H4B9	Frame_Shift_Ins	INS	ENST00000325870.2	37	c.271_272insA	CCDS6514.1																																																																																				0.762	DMRTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051935.2		
VAV2	7410	broad.mit.edu	37	9	136653541	136653541	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr9:136653541C>T	ENST00000371850.3	-	15	1373	c.1342G>A	c.(1342-1344)Gag>Aag	p.E448K	VAV2_ENST00000371851.1_Missense_Mutation_p.E443K|VAV2_ENST00000406606.3_Missense_Mutation_p.E443K	NM_001134398.1	NP_001127870.1	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	448	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		TCGATGATCTCCTTGAGCTCG	0.592																																						uc004ces.2																			0				central_nervous_system(3)|ovary(2)|lung(2)|breast(1)	8						c.(1342-1344)GAG>AAG		vav 2 guanine nucleotide exchange factor isoform							192.0	135.0	154.0					9																	136653541		2203	4300	6503	SO:0001583	missense	7410				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity	g.chr9:136653541C>T		CCDS6979.1, CCDS48053.1	9q34.1	2013-02-14	2007-07-25		ENSG00000160293	ENSG00000160293		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12658	protein-coding gene	gene with protein product		600428	"""vav 2 oncogene"""			7762982	Standard	NM_003371		Approved		uc004ces.3	P52735	OTTHUMG00000020882	ENST00000371850.3:c.1342G>A	9.37:g.136653541C>T	ENSP00000360916:p.Glu448Lys					VAV2_uc004cer.2_Missense_Mutation_p.E443K|VAV2_uc004cet.1_5'UTR	p.E448K	NM_001134398	NP_001127870	P52735	VAV2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)	15	1388	-			448			PH.		A2RUM4|A8MQ12|B6ZDF5|Q5SYV3|Q5SYV4|Q5SYV5|Q6N012|Q6PIJ9|Q6Q317	Missense_Mutation	SNP	ENST00000371850.3	37	c.1342G>A	CCDS48053.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.942003	0.73557	.	.	ENSG00000160293	ENST00000371850;ENST00000371851;ENST00000406606;ENST00000325440	D;D;D	0.88354	-2.37;-2.37;-2.37	4.81	4.81	0.61882	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.053437	0.64402	D	0.000001	D	0.91613	0.7350	M	0.65975	2.015	0.80722	D	1	B;B	0.29232	0.216;0.238	B;B	0.43413	0.243;0.419	D	0.91589	0.5285	10	0.66056	D	0.02	.	17.8879	0.88862	0.0:1.0:0.0:0.0	.	448;443	P52735;P52735-3	VAV2_HUMAN;.	K	448;443;443;443	ENSP00000360916:E448K;ENSP00000360917:E443K;ENSP00000385362:E443K	ENSP00000317258:E443K	E	-	1	0	VAV2	135643362	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	5.725000	0.68507	2.222000	0.72286	0.478000	0.44815	GAG		0.592	VAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054939.1		
AMELX	265	broad.mit.edu	37	X	11316747	11316747	+	Missense_Mutation	SNP	C	C	T	rs148259441		TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chrX:11316747C>T	ENST00000380714.3	+	5	292	c.224C>T	c.(223-225)cCg>cTg	p.P75L	AMELX_ENST00000348912.4_Missense_Mutation_p.P59L|ARHGAP6_ENST00000380732.3_Intron|ARHGAP6_ENST00000380718.1_Intron|ARHGAP6_ENST00000337414.4_Intron|AMELX_ENST00000380712.3_Missense_Mutation_p.P89L|ARHGAP6_ENST00000413512.3_Intron|ARHGAP6_ENST00000380736.1_Intron	NM_001142.2	NP_001133.1	Q99217	AMELX_HUMAN	amelogenin, X-linked	75					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|enamel mineralization (GO:0070166)|epithelial to mesenchymal transition (GO:0001837)|ion homeostasis (GO:0050801)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of tooth mineralization (GO:0070172)|signal transduction (GO:0007165)|tooth mineralization (GO:0034505)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	growth factor activity (GO:0008083)|hydroxyapatite binding (GO:0046848)|identical protein binding (GO:0042802)|structural constituent of tooth enamel (GO:0030345)			endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	15						CAGCACCCCCCGACTCACACC	0.602																																						uc004cut.2																			0					0						c.(223-225)CCG>CTG		amelogenin (X chromosome) isoform 1 precursor							137.0	118.0	124.0					X																	11316747		2203	4300	6503	SO:0001583	missense	265				cell adhesion|cell proliferation|chondrocyte differentiation|enamel mineralization|epithelial to mesenchymal transition|ion homeostasis|odontogenesis of dentine-containing tooth|osteoblast differentiation|positive regulation of collagen biosynthetic process|positive regulation of tooth mineralization|signal transduction	proteinaceous extracellular matrix	cell surface binding|growth factor activity|hydroxyapatite binding|identical protein binding|structural constituent of tooth enamel	g.chrX:11316747C>T		CCDS14144.1, CCDS14145.1, CCDS14146.1	Xp22.31-p22.1	2010-04-20	2010-04-20		ENSG00000125363	ENSG00000125363			461	protein-coding gene	gene with protein product	"""amelogenesis imperfecta 1"""	300391	"""amelogenin (X chromosome, amelogenesis imperfecta 1)"""	AMG, AIH1		1734713	Standard	NM_182680		Approved		uc004cus.3	Q99217	OTTHUMG00000021130	ENST00000380714.3:c.224C>T	X.37:g.11316747C>T	ENSP00000370090:p.Pro75Leu					ARHGAP6_uc004cup.1_Intron|ARHGAP6_uc004cuo.1_Intron|ARHGAP6_uc004cur.1_Intron|ARHGAP6_uc004cun.1_Intron|ARHGAP6_uc011mif.1_Intron|AMELX_uc004cus.2_Missense_Mutation_p.P89L|AMELX_uc004cuu.2_Missense_Mutation_p.P59L	p.P75L	NM_001142	NP_001133	Q99217	AMELX_HUMAN			5	292	+			75					Q96NW6|Q9UCA7	Missense_Mutation	SNP	ENST00000380714.3	37	c.224C>T	CCDS14144.1	.	.	.	.	.	.	.	.	.	.	C	13.49	2.252464	0.39797	.	.	ENSG00000125363	ENST00000380714;ENST00000380712;ENST00000348912	D;D;D	0.88431	-2.38;-2.38;-2.38	5.0	2.01	0.26516	.	0.680797	0.13924	N	0.353342	D	0.86029	0.5835	L	0.60455	1.87	0.41576	D	0.988717	B;B;B	0.27117	0.139;0.168;0.139	B;B;B	0.21546	0.034;0.035;0.034	T	0.78889	-0.2026	10	0.52906	T	0.07	1.2874	12.6479	0.56746	0.4514:0.5486:0.0:0.0	.	59;75;89	Q99217-2;Q99217;Q99217-3	.;AMELX_HUMAN;.	L	75;89;59	ENSP00000370090:P75L;ENSP00000370088:P89L;ENSP00000335312:P59L	ENSP00000335312:P59L	P	+	2	0	AMELX	11226668	0.866000	0.29940	0.958000	0.39756	0.995000	0.86356	0.030000	0.13688	-0.012000	0.14223	0.415000	0.27848	CCG		0.602	AMELX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055746.1	NM_001142	
ZCCHC16	340595	broad.mit.edu	37	X	111698312	111698312	+	Missense_Mutation	SNP	G	G	C	rs149089921		TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chrX:111698312G>C	ENST00000340433.2	+	1	586	c.356G>C	c.(355-357)aGt>aCt	p.S119T		NM_001004308.2	NP_001004308.2	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	119							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.S119T(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						CCTGACAAGAGTACCTTACTG	0.383																																						uc004epo.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(355-357)AGT>ACT		zinc finger, CCHC domain containing 16							97.0	88.0	91.0					X																	111698312		2203	4300	6503	SO:0001583	missense	340595						nucleic acid binding|zinc ion binding	g.chrX:111698312G>C	AK128465	CCDS35369.1	Xq23	2008-05-02			ENSG00000187823	ENSG00000187823		"""Zinc fingers, CCHC domain containing"""	25214	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_001004308		Approved	Mart4, Mar4, FLJ46608	uc004epo.1	Q6ZR62	OTTHUMG00000159706	ENST00000340433.2:c.356G>C	X.37:g.111698312G>C	ENSP00000340590:p.Ser119Thr						p.S119T	NM_001004308	NP_001004308	Q6ZR62	ZCH16_HUMAN			3	797	+			119					B2RPG1	Missense_Mutation	SNP	ENST00000340433.2	37	c.356G>C	CCDS35369.1	.	.	.	.	.	.	.	.	.	.	G	4.632	0.117436	0.08881	.	.	ENSG00000187823	ENST00000340433	T	0.44881	0.91	3.99	-1.55	0.08558	.	1.166430	0.06578	N	0.749699	T	0.27866	0.0686	L	0.27053	0.805	0.09310	N	1	P	0.36535	0.557	B	0.36186	0.219	T	0.21177	-1.0253	10	0.23891	T	0.37	0.25	8.1313	0.31029	0.5781:0.0:0.4219:0.0	.	119	Q6ZR62	ZCH16_HUMAN	T	119	ENSP00000340590:S119T	ENSP00000340590:S119T	S	+	2	0	ZCCHC16	111584968	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.871000	0.04223	-0.505000	0.06568	0.523000	0.50628	AGT		0.383	ZCCHC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356964.1	NM_001004308	
DCAF12L2	340578	broad.mit.edu	37	X	125299765	125299765	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chrX:125299765C>T	ENST00000360028.2	-	1	169	c.143G>A	c.(142-144)cGt>cAt	p.R48H	DCAF12L2_ENST00000538699.1_Missense_Mutation_p.R48H			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	48										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CAGCCTGCGACGCGTCGCCGG	0.731																																						uc004euk.1																			0				lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1)	7						c.(142-144)CGT>CAT		DDB1 and CUL4 associated factor 12-like 2							12.0	16.0	14.0					X																	125299765		1870	3777	5647	SO:0001583	missense	340578							g.chrX:125299765C>T	AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"""WD repeat domain containing"""	32950	protein-coding gene	gene with protein product			"""WD repeat domain 40C"""	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.143G>A	X.37:g.125299765C>T	ENSP00000353128:p.Arg48His						p.R48H	NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN			1	170	-			48					B2RN42	Missense_Mutation	SNP	ENST00000360028.2	37	c.143G>A	CCDS43991.1	.	.	.	.	.	.	.	.	.	.	c	16.13	3.037072	0.54896	.	.	ENSG00000198354	ENST00000538699;ENST00000360028	T;T	0.18960	2.18;2.18	3.11	-3.14	0.05250	.	.	.	.	.	T	0.11452	0.0279	L	0.35723	1.085	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.34527	-0.9825	9	0.30854	T	0.27	.	0.2208	0.00168	0.3067:0.1841:0.1506:0.3586	.	48	Q5VW00	DC122_HUMAN	H	48	ENSP00000441489:R48H;ENSP00000353128:R48H	ENSP00000353128:R48H	R	-	2	0	DCAF12L2	125127446	0.000000	0.05858	0.000000	0.03702	0.838000	0.47535	0.441000	0.21611	-0.964000	0.03595	0.287000	0.19450	CGT		0.731	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628	
AFF2	2334	broad.mit.edu	37	X	147967460	147967460	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chrX:147967460A>G	ENST00000370460.2	+	8	1783	c.1304A>G	c.(1303-1305)gAc>gGc	p.D435G	AFF2_ENST00000286437.5_Missense_Mutation_p.D76G|AFF2_ENST00000370458.1_Missense_Mutation_p.D396G|AFF2_ENST00000370457.5_Missense_Mutation_p.D402G|AFF2_ENST00000342251.3_Missense_Mutation_p.D402G	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	435					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GATGAAGATGACCTTGAGCCT	0.483																																						uc004fcp.2																			0				ovary(3)|pancreas(2)	5						c.(1303-1305)GAC>GGC		fragile X mental retardation 2							338.0	285.0	303.0					X																	147967460		2203	4300	6503	SO:0001583	missense	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:147967460A>G	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.1304A>G	X.37:g.147967460A>G	ENSP00000359489:p.Asp435Gly					AFF2_uc004fco.2_Missense_Mutation_p.D396G|AFF2_uc004fcq.2_Missense_Mutation_p.D425G|AFF2_uc004fcr.2_Missense_Mutation_p.D396G|AFF2_uc011mxb.1_Missense_Mutation_p.D400G|AFF2_uc004fcs.2_Missense_Mutation_p.D402G|AFF2_uc011mxc.1_Missense_Mutation_p.D76G	p.D435G	NM_002025	NP_002016	P51816	AFF2_HUMAN			8	1783	+	Acute lymphoblastic leukemia(192;6.56e-05)		435					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	37	c.1304A>G	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.199181	0.79015	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000370458;ENST00000286437	T;T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17;-0.17	5.45	5.45	0.79879	.	0.120556	0.53938	D	0.000060	T	0.72382	0.3453	L	0.47716	1.5	0.53688	D	0.999974	D;D;D;D;D;D;D	0.76494	0.989;0.986;0.986;0.986;0.986;0.989;0.999	P;P;P;P;P;P;D	0.68765	0.862;0.783;0.783;0.783;0.783;0.862;0.96	T	0.73649	-0.3916	10	0.51188	T	0.08	.	14.5211	0.67851	1.0:0.0:0.0:0.0	.	76;400;402;396;425;435;396	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816;P51816-4	.;.;.;.;.;AFF2_HUMAN;.	G	435;402;402;396;76	ENSP00000359489:D435G;ENSP00000359486:D402G;ENSP00000345459:D402G;ENSP00000359487:D396G;ENSP00000286437:D76G	ENSP00000286437:D76G	D	+	2	0	AFF2	147775153	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.641000	0.74324	1.808000	0.52836	0.481000	0.45027	GAC		0.483	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025	
TGIF2LY	90655	broad.mit.edu	37	Y	3447632	3447632	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chrY:3447632G>A	ENST00000559055.2	+	1	477	c.347G>A	c.(346-348)cGt>cAt	p.R116H	TGIF2LY_ENST00000321217.4_Missense_Mutation_p.R116H			Q8IUE0	TF2LY_HUMAN	TGFB-induced factor homeobox 2-like, Y-linked	116					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			kidney(1)|upper_aerodigestive_tract(1)	2						CTTCAACAGCGTAGAAACGAC	0.527																																						uc004fqk.2																			0					0						c.(346-348)CGT>CAT		TGFB-induced factor homeobox 2-like, Y-linked																																				SO:0001583	missense	90655					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrY:3447632G>A	AF332223	CCDS14775.1	Yp11.2	2011-06-20	2007-02-07		ENSG00000176679	ENSG00000176679		"""Homeoboxes / TALE class"""	18569	protein-coding gene	gene with protein product		400025	"""TGFB-induced factor 2-like, Y-linked"""				Standard	NM_139214		Approved		uc004fqk.3	Q8IUE0	OTTHUMG00000036153	ENST00000559055.2:c.347G>A	Y.37:g.3447632G>A	ENSP00000453750:p.Arg116His						p.R116H	NM_139214	NP_631960	Q8IUE0	TF2LY_HUMAN			2	411	+			116					A2VCU1	Missense_Mutation	SNP	ENST00000559055.2	37	c.347G>A	CCDS14775.1																																																																																				0.527	TGIF2LY-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417915.2	NM_139214	
