#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
TTLL10	254173	broad.mit.edu	37	1	1120451	1120451	+	Missense_Mutation	SNP	C	C	T			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr1:1120451C>T	ENST00000379290.1	+	13	1536	c.1363C>T	c.(1363-1365)Cgg>Tgg	p.R455W	TTLL10_ENST00000379288.3_Missense_Mutation_p.R382W|TTLL10_ENST00000379289.1_Missense_Mutation_p.R455W			Q6ZVT0	TTL10_HUMAN	tubulin tyrosine ligase-like family, member 10	455	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)					haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CTGGAAGGCCCGGGGCCTCGC	0.612																																						uc001acy.2																			0				large_intestine(1)	1						c.(1363-1365)CGG>TGG		tubulin tyrosine ligase-like family, member 10							88.0	69.0	75.0					1																	1120451		2203	4300	6503	SO:0001583	missense	254173				protein modification process		ATP binding|tubulin-tyrosine ligase activity	g.chr1:1120451C>T	AK093438	CCDS8.1, CCDS44036.1	1p36.33	2014-01-28	2005-07-29	2005-07-29	ENSG00000162571	ENSG00000162571		"""Tubulin tyrosine ligase-like family"""	26693	protein-coding gene	gene with protein product			"""tubulin tyrosine ligase-like family, member 5"""	TTLL5		15890843	Standard	NM_153254		Approved	FLJ36119	uc001acy.2	Q6ZVT0	OTTHUMG00000000851	ENST00000379290.1:c.1363C>T	1.37:g.1120451C>T	ENSP00000368592:p.Arg455Trp					TTLL10_uc010nyg.1_Missense_Mutation_p.R455W|TTLL10_uc001acz.1_Missense_Mutation_p.R382W	p.R455W	NM_001130045	NP_001123517	Q6ZVT0	TTL10_HUMAN		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	13	1514	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	455			TTL.		B1AMF6|Q5T2W4|Q5T2W5|Q8N9X2	Missense_Mutation	SNP	ENST00000379290.1	37	c.1363C>T	CCDS44036.1	.	.	.	.	.	.	.	.	.	.	C	6.689	0.495670	0.12762	.	.	ENSG00000162571	ENST00000379290;ENST00000379289;ENST00000379288	T;T;T	0.15372	3.27;3.27;2.43	4.54	2.08	0.27032	.	0.404445	0.17982	U	0.155491	T	0.27313	0.0670	L	0.35793	1.09	0.25680	N	0.985802	D;D	0.89917	0.998;1.0	P;D	0.68765	0.849;0.96	T	0.05566	-1.0877	10	0.59425	D	0.04	.	9.8485	0.41041	0.6057:0.3943:0.0:0.0	.	382;455	Q6ZVT0-3;Q6ZVT0	.;TTL10_HUMAN	W	455;455;382	ENSP00000368592:R455W;ENSP00000368591:R455W;ENSP00000368590:R382W	ENSP00000368590:R382W	R	+	1	2	TTLL10	1110314	0.999000	0.42202	0.737000	0.30932	0.151000	0.21798	4.204000	0.58460	0.232000	0.21100	-0.309000	0.09137	CGG		0.612	TTLL10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002421.3	NM_153254	
SPEN	23013	broad.mit.edu	37	1	16255142	16255143	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr1:16255142_16255143delGA	ENST00000375759.3	+	11	2611_2612	c.2407_2408delGA	c.(2407-2409)gagfs	p.E803fs		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	803	Arg-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GGAGAGAGTGGAGAGAGAGAGA	0.431																																						uc001axk.1																			0				ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						c.(2407-2409)GAGfs		spen homolog, transcriptional regulator																																				SO:0001589	frameshift_variant	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16255142_16255143delGA		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.2407_2408delGA	1.37:g.16255152_16255153delGA	ENSP00000364912:p.Glu803fs					SPEN_uc010obp.1_Frame_Shift_Del_p.E762fs	p.E803fs	NM_015001	NP_055816	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	11	2611_2612	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	803			Arg-rich.		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Frame_Shift_Del	DEL	ENST00000375759.3	37	c.2407_2408delGA	CCDS164.1																																																																																				0.431	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001	
AZIN2	113451	broad.mit.edu	37	1	33583680	33583681	+	Frame_Shift_Ins	INS	-	-	C			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr1:33583680_33583681insC	ENST00000294517.6	+	11	1794_1795	c.1207_1208insC	c.(1207-1209)gccfs	p.A403fs	ADC_ENST00000484656.1_3'UTR|ADC_ENST00000398167.1_Frame_Shift_Ins_p.A423fs|ADC_ENST00000373443.3_Frame_Shift_Ins_p.A403fs|ADC_ENST00000373441.1_Frame_Shift_Ins_p.A423fs	NM_052998.2	NP_443724.1	Q96A70	AZIN2_HUMAN		403					agmatine biosynthetic process (GO:0097055)|cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of protein catabolic process (GO:0042177)|ornithine metabolic process (GO:0006591)|polyamine biosynthetic process (GO:0006596)|polyamine metabolic process (GO:0006595)|positive regulation of catalytic activity (GO:0043085)|positive regulation of polyamine transmembrane transport (GO:1902269)|putrescine transport (GO:0015847)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|trans-Golgi network membrane organization (GO:0098629)	axon (GO:0030424)|cis-Golgi network (GO:0005801)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|granular vesicle (GO:1990005)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	catalytic activity (GO:0003824)|ornithine decarboxylase activator activity (GO:0042978)|putrescine transmembrane transporter activity (GO:0015489)			NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)	GGGGACCCAGGCCTGCCACATC	0.614																																						uc001bwr.2																			0				ovary(2)	2						c.(1207-1209)GCCfs		ODC antizyme inhibitor-2	L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114)																																			SO:0001589	frameshift_variant	113451				polyamine biosynthetic process|spermatogenesis	cytosol	arginine decarboxylase activity	g.chr1:33583680_33583681insC																												ENST00000294517.6:c.1209dupC	1.37:g.33583682_33583682dupC	ENSP00000294517:p.Ala403fs					ADC_uc001bws.2_Frame_Shift_Ins_p.A403fs|ADC_uc009vue.2_Frame_Shift_Ins_p.A403fs|ADC_uc001bwt.1_Frame_Shift_Ins_p.A308fs|ADC_uc001bwu.2_Frame_Shift_Ins_p.A308fs|ADC_uc001bwv.2_Frame_Shift_Ins_p.A308fs|ADC_uc001bww.2_Frame_Shift_Ins_p.A308fs|ADC_uc001bwx.1_Frame_Shift_Ins_p.A380fs|ADC_uc009vug.2_Frame_Shift_Ins_p.A423fs	p.A403fs	NM_052998	NP_443724	Q96A70	ADC_HUMAN			11	1794_1795	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)	403					B2RDU5|D3DPQ9|Q5TIF4|Q5TIF5|Q5TIF6|Q8TF56|Q96L54|Q96L55|Q96L56|Q96L57|Q96MD9	Frame_Shift_Ins	INS	ENST00000294517.6	37	c.1207_1208insC	CCDS375.1																																																																																				0.614	ADC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011867.1		
TCHH	7062	broad.mit.edu	37	1	152081494	152081494	+	Missense_Mutation	SNP	C	C	T			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr1:152081494C>T	ENST00000368804.1	-	2	4198	c.4199G>A	c.(4198-4200)cGc>cAc	p.R1400H		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1400	23 X 26 AA approximate tandem repeats.		R -> P (found in a renal cell carcinoma sample; somatic mutation). {ECO:0000269|PubMed:21248752}.		keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)	p.R1400P(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCCTGGCAGCGCAGCTGCTG	0.587																																						uc001ezp.2																			1	Substitution - Missense(1)	p.R1400P(1)	kidney(1)	ovary(3)|kidney(1)|central_nervous_system(1)	5						c.(4198-4200)CGC>CAC		trichohyalin							55.0	58.0	57.0					1																	152081494		1857	4100	5957	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152081494C>T	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.4199G>A	1.37:g.152081494C>T	ENSP00000357794:p.Arg1400His					TCHH_uc009wne.1_Missense_Mutation_p.R1400H	p.R1400H	NM_007113	NP_009044	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	4199	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1400		R -> P (found in a renal cell carcinoma sample; somatic mutation).	23 X 26 AA approximate tandem repeats.		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.4199G>A	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	c	9.594	1.126894	0.20959	.	.	ENSG00000159450	ENST00000368804	T	0.08546	3.08	3.34	-0.16	0.13375	.	.	.	.	.	T	0.05273	0.0140	L	0.47716	1.5	0.09310	N	1	D	0.64830	0.994	P	0.56563	0.801	T	0.26744	-1.0094	9	0.46703	T	0.11	.	4.0289	0.09700	0.403:0.4736:0.0:0.1234	.	1400	Q07283	TRHY_HUMAN	H	1400	ENSP00000357794:R1400H	ENSP00000357794:R1400H	R	-	2	0	TCHH	150348118	0.000000	0.05858	0.002000	0.10522	0.120000	0.20174	-1.941000	0.01542	0.145000	0.18977	0.297000	0.19635	CGC		0.587	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113	
PCP4L1	654790	broad.mit.edu	37	1	161253488	161253488	+	Nonsense_Mutation	SNP	C	C	T			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr1:161253488C>T	ENST00000504449.1	+	2	288	c.40C>T	c.(40-42)Cag>Tag	p.Q14*		NM_001102566.1	NP_001096036.1	A6NKN8	PC4L1_HUMAN	Purkinje cell protein 4 like 1	14										endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4	all_cancers(52;4.16e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			AGCAACCAACCAGGCAGCTGG	0.428																																						uc001gad.2																			0					0						c.(40-42)CAG>TAG		Purkinje cell protein 4 like 1							53.0	51.0	51.0					1																	161253488		1840	4100	5940	SO:0001587	stop_gained	654790							g.chr1:161253488C>T	BC028905	CCDS53412.1	1q23.3	2006-02-27	2006-02-27		ENSG00000248485	ENSG00000248485			20448	protein-coding gene	gene with protein product			"""purkinje cell protein 4 like 1"""				Standard	NM_001102566		Approved	IQM1	uc001gad.3	A6NKN8	OTTHUMG00000034340	ENST00000504449.1:c.40C>T	1.37:g.161253488C>T	ENSP00000426296:p.Gln14*						p.Q14*	NM_001102566	NP_001096036	A6NKN8	PC4L1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		2	288	+	all_cancers(52;4.16e-18)|all_hematologic(112;0.093)		14					B2RV24|B9EJG4	Nonsense_Mutation	SNP	ENST00000504449.1	37	c.40C>T	CCDS53412.1	.	.	.	.	.	.	.	.	.	.	C	36	5.622308	0.96660	.	.	ENSG00000248485	ENST00000504449	.	.	.	4.94	4.94	0.65067	.	0.215348	0.29964	N	0.010760	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.5407	0.61672	0.0:1.0:0.0:0.0	.	.	.	.	X	14	.	ENSP00000426296:Q14X	Q	+	1	0	PCP4L1	159520112	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	1.356000	0.34079	2.573000	0.86826	0.561000	0.74099	CAG		0.428	PCP4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082986.2		
CACNA1E	777	broad.mit.edu	37	1	181680102	181680103	+	Frame_Shift_Del	DEL	AG	AG	-	rs147596634		TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr1:181680102_181680103delAG	ENST00000367573.2	+	8	1068_1069	c.1068_1069delAG	c.(1066-1071)aaagagfs	p.E357fs	CACNA1E_ENST00000360108.3_Frame_Shift_Del_p.E357fs|CACNA1E_ENST00000358338.5_Frame_Shift_Del_p.E308fs|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000367570.1_Frame_Shift_Del_p.E357fs|CACNA1E_ENST00000526775.1_Frame_Shift_Del_p.E357fs|CACNA1E_ENST00000357570.5_Frame_Shift_Del_p.E308fs	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	357					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AATTTGCCAAAGAGAGAGAGAG	0.51																																						uc001gow.2																			0				ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(1066-1071)AAAGAGfs		calcium channel, voltage-dependent, R type,			,,	161,3503		41,79,1712					,,	5.3	1.0		dbSNP_134	61	297,7585		52,193,3696	yes	frameshift,frameshift,frameshift	CACNA1E	NM_001205294.1,NM_001205293.1,NM_000721.3	,,	93,272,5408	A1A1,A1R,RR		3.7681,4.3941,3.9667	,,	,,		458,11088				SO:0001589	frameshift_variant	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181680102_181680103delAG	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.1068_1069delAG	1.37:g.181680112_181680113delAG	ENSP00000356545:p.Glu357fs					CACNA1E_uc009wxs.2_Frame_Shift_Del_p.K263fs	p.K356fs	NM_000721	NP_000712	Q15878	CAC1E_HUMAN			8	1233_1234	+			356_357			Cytoplasmic (Potential).		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Frame_Shift_Del	DEL	ENST00000367573.2	37	c.1068_1069delAG	CCDS55664.1																																																																																				0.510	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721	
NMNAT2	23057	broad.mit.edu	37	1	183261948	183261948	+	Silent	SNP	G	G	A	rs138225647		TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr1:183261948G>A	ENST00000287713.6	-	3	553	c.219C>T	c.(217-219)gcC>gcT	p.A73A	NMNAT2_ENST00000473046.1_5'Flank|NMNAT2_ENST00000294868.4_Silent_p.A68A	NM_015039.3	NP_055854.1	Q9BZQ4	NMNA2_HUMAN	nicotinamide nucleotide adenylyltransferase 2	73					NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|late endosome (GO:0005770)|synapse (GO:0045202)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|nicotinamide-nucleotide adenylyltransferase activity (GO:0000309)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	18						AATTCTGGACGGCCAGCTGAC	0.562																																						uc001gqc.1																			0				skin(1)	1						c.(217-219)GCC>GCT		nicotinamide mononucleotide adenylyltransferase		G	,	2,4404	4.2+/-10.8	0,2,2201	64.0	55.0	58.0		219,204	-10.5	0.7	1	dbSNP_134	58	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	NMNAT2	NM_015039.3,NM_170706.3	,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,	73/308,68/303	183261948	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	23057				water-soluble vitamin metabolic process	Golgi membrane|nucleus	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity	g.chr1:183261948G>A	AF288395	CCDS1353.1, CCDS1354.1	1q25	2008-02-05	2003-04-30	2003-05-02	ENSG00000157064	ENSG00000157064			16789	protein-coding gene	gene with protein product		608701	"""chromosome 1 open reading frame 15"""	C1orf15		11318611, 12359228	Standard	NM_015039		Approved	KIAA0479, PNAT2	uc001gqc.2	Q9BZQ4	OTTHUMG00000035519	ENST00000287713.6:c.219C>T	1.37:g.183261948G>A						NMNAT2_uc001gqb.1_Silent_p.A68A|NMNAT2_uc001gqd.2_5'Flank	p.A73A	NM_015039	NP_055854	Q9BZQ4	NMNA2_HUMAN			3	554	-			73					O75067|Q5T1Q3|Q8WU99|Q96QW1	Silent	SNP	ENST00000287713.6	37	c.219C>T	CCDS1353.1																																																																																				0.562	NMNAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086255.1		
AKR1C4	1109	broad.mit.edu	37	10	5254979	5254979	+	Missense_Mutation	SNP	C	C	A			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr10:5254979C>A	ENST00000380448.1	+	9	956	c.703C>A	c.(703-705)Ctt>Att	p.L235I	AKR1C4_ENST00000263126.1_Missense_Mutation_p.L235I			P17516	AK1C4_HUMAN	aldo-keto reductase family 1, member C4	235					androgen metabolic process (GO:0008209)|bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular response to jasmonic acid stimulus (GO:0071395)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aldo-keto reductase (NADP) activity (GO:0004033)|androsterone dehydrogenase activity (GO:0047023)|bile acid transmembrane transporter activity (GO:0015125)|chlordecone reductase activity (GO:0047743)|electron carrier activity (GO:0009055)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|retinal dehydrogenase activity (GO:0001758)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	18						CTCCCCAGTTCTTTTGGAGGA	0.527																																						uc001ihw.2																			0				ovary(1)	1						c.(703-705)CTT>ATT		aldo-keto reductase family 1, member C4	NADH(DB00157)						43.0	42.0	43.0					10																	5254979		2203	4300	6503	SO:0001583	missense	1109				androgen metabolic process|bile acid biosynthetic process	cytosol	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid transmembrane transporter activity|chlordecone reductase activity|electron carrier activity	g.chr10:5254979C>A	M33375	CCDS7064.1	10p15.1	2012-12-04	2012-12-04		ENSG00000198610	ENSG00000198610	1.1.1.225	"""Aldo-keto reductases"""	387	protein-coding gene	gene with protein product	"""chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4"""	600451	"""aldo-keto reductase family 1, member C4 (chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4)"""	CHDR		7789999	Standard	NM_001818		Approved	DD4, HAKRA, C11, 3-alpha-HSD, CDR, MGC22581	uc001ihw.2	P17516	OTTHUMG00000017591	ENST00000380448.1:c.703C>A	10.37:g.5254979C>A	ENSP00000369814:p.Leu235Ile						p.L235I	NM_001818	NP_001809	P17516	AK1C4_HUMAN			7	736	+			235			NADP.		Q5T6A3|Q8WW84|Q9NS54	Missense_Mutation	SNP	ENST00000380448.1	37	c.703C>A	CCDS7064.1	.	.	.	.	.	.	.	.	.	.	C	10.45	1.352923	0.24512	.	.	ENSG00000198610	ENST00000380448;ENST00000263126	T;T	0.26223	1.75;1.75	3.3	3.3	0.37823	NADP-dependent oxidoreductase domain (3);	0.117602	0.37906	N	0.001895	T	0.39627	0.1085	L	0.49455	1.56	0.40352	D	0.979141	P	0.48998	0.918	P	0.60068	0.868	T	0.32613	-0.9900	10	0.62326	D	0.03	.	12.0585	0.53548	0.0:1.0:0.0:0.0	.	235	P17516	AK1C4_HUMAN	I	235	ENSP00000369814:L235I;ENSP00000263126:L235I	ENSP00000263126:L235I	L	+	1	0	AKR1C4	5244979	0.381000	0.25140	0.010000	0.14722	0.002000	0.02628	0.866000	0.27954	1.362000	0.46000	0.313000	0.20887	CTT		0.527	AKR1C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046543.2	NM_001818	
HPS6	79803	broad.mit.edu	37	10	103825336	103825336	+	Silent	SNP	T	T	C	rs573488604	byFrequency	TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr10:103825336T>C	ENST00000299238.5	+	1	190	c.105T>C	c.(103-105)cgT>cgC	p.R35R		NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome 6	35					blood coagulation (GO:0007596)|melanocyte differentiation (GO:0030318)|organelle organization (GO:0006996)|protein localization to membrane (GO:0072657)	BLOC-2 complex (GO:0031084)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|Rab GTPase binding (GO:0017137)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		TCCGAGTCCGTGGCAGTCCGG	0.756									Hermansky-Pudlak syndrome				T|||	8	0.00159744	0.0	0.0	5008	,	,		8802	0.0		0.0	False		,,,				2504	0.0082					uc001kuj.2																			0					0						c.(103-105)CGT>CGC		Hermansky-Pudlak syndrome-6							3.0	4.0	4.0					10																	103825336		1193	2650	3843	SO:0001819	synonymous_variant	79803	Hermansky-Pudlak_syndrome	Familial Cancer Database	HPS, HPS1-8		cytosol|early endosome membrane|endoplasmic reticulum|microsome		g.chr10:103825336T>C	BC009258	CCDS7527.1	10q24.32	2014-06-18			ENSG00000166189	ENSG00000166189			18817	protein-coding gene	gene with protein product		607522				12548288	Standard	NM_024747		Approved	FLJ22501	uc001kuj.3	Q86YV9	OTTHUMG00000018945	ENST00000299238.5:c.105T>C	10.37:g.103825336T>C							p.R35R	NM_024747	NP_079023	Q86YV9	HPS6_HUMAN		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)	1	190	+		Colorectal(252;0.122)	35					Q5VV69|Q9H685	Silent	SNP	ENST00000299238.5	37	c.105T>C	CCDS7527.1																																																																																				0.756	HPS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050018.2	NM_024747	
NPAS4	266743	broad.mit.edu	37	11	66192484	66192484	+	Missense_Mutation	SNP	C	C	T			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr11:66192484C>T	ENST00000311034.2	+	7	2299	c.2123C>T	c.(2122-2124)aCg>aTg	p.T708M		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	708					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CTGGAAGAGACGCCCGTGGAA	0.612																																						uc001ohx.1																			0					0						c.(2122-2124)ACG>ATG		neuronal PAS domain protein 4							74.0	81.0	78.0					11																	66192484		2200	4295	6495	SO:0001583	missense	266743				transcription, DNA-dependent		DNA binding|signal transducer activity	g.chr11:66192484C>T	AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"""Basic helix-loop-helix proteins"""	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.2123C>T	11.37:g.66192484C>T	ENSP00000311196:p.Thr708Met					NPAS4_uc010rpc.1_Missense_Mutation_p.T498M	p.T708M	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN			7	2299	+			708					B7ZL81|Q8N8S5|Q8N9Q9	Missense_Mutation	SNP	ENST00000311034.2	37	c.2123C>T	CCDS8138.1	.	.	.	.	.	.	.	.	.	.	C	10.62	1.399943	0.25291	.	.	ENSG00000174576	ENST00000311034	T	0.47177	0.85	4.79	-1.53	0.08611	.	0.701451	0.13527	N	0.381227	T	0.22399	0.0540	N	0.08118	0	0.30657	N	0.75483	B	0.06786	0.001	B	0.04013	0.001	T	0.11036	-1.0604	10	0.87932	D	0	1.0838	4.9632	0.14078	0.1492:0.427:0.0:0.4238	.	708	Q8IUM7	NPAS4_HUMAN	M	708	ENSP00000311196:T708M	ENSP00000311196:T708M	T	+	2	0	NPAS4	65949060	0.116000	0.22171	0.997000	0.53966	0.999000	0.98932	-0.326000	0.07965	-0.093000	0.12396	0.655000	0.94253	ACG		0.612	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392634.1	NM_178864	
CABP4	57010	broad.mit.edu	37	11	67225127	67225127	+	Nonsense_Mutation	SNP	C	C	T			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr11:67225127C>T	ENST00000325656.5	+	4	702	c.625C>T	c.(625-627)Cga>Tga	p.R209*	CABP4_ENST00000438189.2_Nonsense_Mutation_p.R104*|CTC-1337H24.1_ENST00000602912.1_lincRNA	NM_145200.3	NP_660201.1	P57796	CABP4_HUMAN	calcium binding protein 4	209	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				photoreceptor cell morphogenesis (GO:0008594)|phototransduction (GO:0007602)|retinal bipolar neuron differentiation (GO:0060040)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|visual perception (GO:0007601)	cytosol (GO:0005829)|extracellular region (GO:0005576)|synapse (GO:0045202)|terminal bouton (GO:0043195)	calcium ion binding (GO:0005509)			central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			GCTGGGGGTGCGAGAGCTGCG	0.637																																						uc001olo.2																			0					0						c.(625-627)CGA>TGA		calcium binding protein 4							62.0	50.0	54.0					11																	67225127		2195	4293	6488	SO:0001587	stop_gained	57010				visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding	g.chr11:67225127C>T	AC005849	CCDS8166.1, CCDS73333.1	11q13.2	2013-09-20			ENSG00000175544	ENSG00000175544		"""EF-hand domain containing"""	1386	protein-coding gene	gene with protein product		608965				10625670, 16960802	Standard	NM_145200		Approved	CSNB2B	uc001olo.3	P57796	OTTHUMG00000168033	ENST00000325656.5:c.625C>T	11.37:g.67225127C>T	ENSP00000324960:p.Arg209*					CABP4_uc001oln.2_Nonsense_Mutation_p.R104*	p.R209*	NM_145200	NP_660201	P57796	CABP4_HUMAN	BRCA - Breast invasive adenocarcinoma(15;8.18e-06)		4	702	+			209			EF-hand 3.		Q8N4Z2|Q8WWY5	Nonsense_Mutation	SNP	ENST00000325656.5	37	c.625C>T	CCDS8166.1	.	.	.	.	.	.	.	.	.	.	C	17.52	3.409753	0.62399	.	.	ENSG00000175544	ENST00000438189;ENST00000325656	.	.	.	4.58	3.64	0.41730	.	0.066460	0.56097	D	0.000023	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	-20.5637	10.5399	0.45026	0.4747:0.5253:0.0:0.0	.	.	.	.	X	104;209	.	ENSP00000324960:R209X	R	+	1	2	CABP4	66981703	0.066000	0.20996	0.930000	0.37139	0.792000	0.44763	1.384000	0.34396	1.223000	0.43536	0.655000	0.94253	CGA		0.637	CABP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397624.2		
SORL1	6653	broad.mit.edu	37	11	121424742	121424742	+	Missense_Mutation	SNP	G	G	A			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr11:121424742G>A	ENST00000260197.7	+	17	2492	c.2363G>A	c.(2362-2364)cGg>cAg	p.R788Q		NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	788					cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		ACCGGGCTACGGGCAGCAGTG	0.562																																						uc001pxx.2																			0				ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1)	15						c.(2362-2364)CGG>CAG		sortilin-related receptor containing LDLR class							149.0	138.0	142.0					11																	121424742		2203	4299	6502	SO:0001583	missense	6653				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	g.chr11:121424742G>A	Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"""Fibronectin type III domain containing"""	11185	protein-coding gene	gene with protein product	"""LDLR relative with 11 ligand-binding repeats"""	602005	"""chromosome 11 open reading frame 32"", ""sortilin-related receptor, L(DLR class) A repeats-containing"""	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.2363G>A	11.37:g.121424742G>A	ENSP00000260197:p.Arg788Gln						p.R788Q	NM_003105	NP_003096	Q92673	SORL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)	17	2443	+		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)	788			Extracellular (Potential).		B2RNX7|Q92856	Missense_Mutation	SNP	ENST00000260197.7	37	c.2363G>A	CCDS8436.1	.	.	.	.	.	.	.	.	.	.	G	15.81	2.941793	0.53079	.	.	ENSG00000137642	ENST00000260197	D	0.91124	-2.79	4.96	4.96	0.65561	Six-bladed beta-propeller, TolB-like (1);	0.624267	0.16062	N	0.231452	T	0.81735	0.4885	N	0.25992	0.78	0.80722	D	1	P	0.44006	0.824	B	0.35688	0.208	T	0.78708	-0.2099	10	0.17832	T	0.49	.	11.8083	0.52169	0.0796:0.0:0.9204:0.0	.	788	Q92673	SORL_HUMAN	Q	788	ENSP00000260197:R788Q	ENSP00000260197:R788Q	R	+	2	0	SORL1	120929952	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	3.928000	0.56506	2.564000	0.86499	0.561000	0.74099	CGG		0.562	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105	
TFDP1	7027	broad.mit.edu	37	13	114294537	114294537	+	Silent	SNP	C	C	T			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr13:114294537C>T	ENST00000375370.5	+	12	1400	c.1188C>T	c.(1186-1188)gaC>gaT	p.D396D	TFDP1_ENST00000544902.1_Silent_p.D367D|TFDP1_ENST00000538138.1_Silent_p.D297D	NM_007111.4	NP_009042.1	Q14186	TFDP1_HUMAN	transcription factor Dp-1	396	Asp/Glu-rich (acidic; NCB domain).				anoikis (GO:0043276)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|epidermis development (GO:0008544)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA biosynthetic process (GO:2000278)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			tcggggaggacgacgaggagg	0.557										TSP Lung(29;0.18)																												uc001vtw.2																			0				lung(4)|ovary(2)|skin(1)	7						c.(1186-1188)GAC>GAT		transcription factor Dp-1							61.0	54.0	56.0					13																	114294537		2203	4300	6503	SO:0001819	synonymous_variant	7027				cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding	g.chr13:114294537C>T	BC011685	CCDS9538.1	13q34	2008-07-18			ENSG00000198176	ENSG00000198176			11749	protein-coding gene	gene with protein product		189902				8413592, 9027491	Standard	NM_007111		Approved	Dp-1, DRTF1, DP1	uc001vtw.3	Q14186	OTTHUMG00000017388	ENST00000375370.5:c.1188C>T	13.37:g.114294537C>T		TSP Lung(29;0.18)				TFDP1_uc010tkd.1_Silent_p.D297D|TFDP1_uc010tke.1_Silent_p.D367D|TFDP1_uc001vty.3_Silent_p.D392D|TFDP1_uc001vtx.2_3'UTR	p.D396D	NM_007111	NP_009042	Q14186	TFDP1_HUMAN	all cancers(43;0.0576)		12	1400	+	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	396			Asp/Glu-rich (acidic; NCB domain).		B4DLQ9|Q5JSB4|Q8IZL5	Silent	SNP	ENST00000375370.5	37	c.1188C>T	CCDS9538.1																																																																																				0.557	TFDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045918.3	NM_007111	
CDC42BPB	9578	broad.mit.edu	37	14	103523372	103523372	+	Missense_Mutation	SNP	G	G	A			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr14:103523372G>A	ENST00000361246.2	-	1	427	c.139C>T	c.(139-141)Cgc>Tgc	p.R47C		NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)											NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TTGTCGCGGCGCAGGGCCGAG	0.721																																						uc001ymi.1																			0				large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1)	11						c.(139-141)CGC>TGC		CDC42-binding protein kinase beta							11.0	8.0	9.0					14																	103523372		2086	4108	6194	SO:0001583	missense	9578				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr14:103523372G>A	AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"""CDC42-binding protein kinase beta (DMPK-like)"""			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.139C>T	14.37:g.103523372G>A	ENSP00000355237:p.Arg47Cys						p.R47C	NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)	1	371	-		Melanoma(154;0.155)	47						Missense_Mutation	SNP	ENST00000361246.2	37	c.139C>T	CCDS9978.1	.	.	.	.	.	.	.	.	.	.	g	20.5	3.999796	0.74818	.	.	ENSG00000198752	ENST00000361246	T	0.69435	-0.4	3.15	2.12	0.27331	.	0.293591	0.27664	N	0.018372	T	0.76637	0.4015	M	0.89414	3.03	0.80722	D	1	D	0.71674	0.998	P	0.52481	0.7	T	0.82252	-0.0549	10	0.87932	D	0	.	11.3441	0.49550	0.0:0.1858:0.8142:0.0	.	47	Q9Y5S2	MRCKB_HUMAN	C	47	ENSP00000355237:R47C	ENSP00000355237:R47C	R	-	1	0	CDC42BPB	102593125	0.957000	0.32711	1.000000	0.80357	0.995000	0.86356	1.418000	0.34782	1.478000	0.48253	0.444000	0.29173	CGC		0.721	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415711.1	NM_006035	
Unknown	0	broad.mit.edu	37	14	107099305	107099305	+	IGR	SNP	T	T	C	rs117541988	byFrequency	TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr14:107099305T>C								IGHV4-61 (3643 upstream) : IGHV3-64 (14435 downstream)																							AAACCCTTTCTTGGAGCCTGG	0.542													.|||	2787	0.55651	0.6899	0.438	5008	,	,		12869	0.499		0.3917	False		,,,				2504	0.6892					uc010tyt.1																			0					0						c.e96+1		Parts of antibodies, mostly variable regions.																																				SO:0001628	intergenic_variant	8755							g.chr14:107099305T>C																													14.37:g.107099305T>C														96		-									Splice_Site	SNP		37	c.4457_splice																																																																																				0	0.542								
FAM214A	56204	broad.mit.edu	37	15	52902145	52902145	+	Silent	SNP	A	A	G			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr15:52902145A>G	ENST00000261844.7	-	6	1118	c.966T>C	c.(964-966)ggT>ggC	p.G322G	FAM214A_ENST00000546305.2_Silent_p.G329G	NM_019600.2	NP_062546.2	Q32MH5	F214A_HUMAN	family with sequence similarity 214, member A	322																	TATCACCTATACCACTAAAGC	0.383																																						uc002acg.3																			0					0						c.(964-966)GGT>GGC		hypothetical protein LOC56204							41.0	36.0	38.0					15																	52902145		1827	4081	5908	SO:0001819	synonymous_variant	56204							g.chr15:52902145A>G	AB037791	CCDS45263.1, CCDS66773.1	15q21.2-q21.3	2011-12-01	2011-12-01	2011-12-01	ENSG00000047346	ENSG00000047346			25609	protein-coding gene	gene with protein product			"""KIAA1370"""	KIAA1370		10718198	Standard	XM_005254547		Approved	FLJ10980	uc002acg.4	Q32MH5		ENST00000261844.7:c.966T>C	15.37:g.52902145A>G						KIAA1370_uc002ach.3_RNA|KIAA1370_uc010bfg.1_Silent_p.G234G|KIAA1370_uc010ugf.1_Silent_p.G329G	p.G322G	NM_019600	NP_062546	Q32MH5	K1370_HUMAN		all cancers(107;0.0803)	6	1119	-			322					A8KA52|B4DEP5|B4DF40|F5H8G0|Q32MH6|Q4G0R7|Q5XJ16|Q6PDA3|Q9NV24|Q9P2H7	Silent	SNP	ENST00000261844.7	37	c.966T>C	CCDS45263.1																																																																																				0.383	FAM214A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419914.1	NM_019600	
ANPEP	290	broad.mit.edu	37	15	90349552	90349552	+	Missense_Mutation	SNP	G	G	A	rs569385341		TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr15:90349552G>A	ENST00000300060.6	-	2	576	c.263C>T	c.(262-264)aCg>aTg	p.T88M		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	88	Metalloprotease.				angiogenesis (GO:0001525)|angiotensin maturation (GO:0002003)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|viral process (GO:0016032)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|receptor activity (GO:0004872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)|Icatibant(DB06196)	CGGTCTCAGCGTCACCCGGTA	0.597																																					NSCLC(30;827 977 2459 19669 26125)	uc002bop.3																			0				ovary(3)|skin(1)	4						c.(262-264)ACG>ATG		membrane alanine aminopeptidase precursor	Ezetimibe(DB00973)						117.0	93.0	101.0					15																	90349552		2200	4299	6499	SO:0001583	missense	290				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding	g.chr15:90349552G>A	M22324	CCDS10356.1	15q25-q26	2008-07-31	2008-07-31		ENSG00000166825	ENSG00000166825	3.4.11.2	"""CD molecules"""	500	protein-coding gene	gene with protein product	"""aminopeptidase N"", ""aminopeptidase M"", ""microsomal aminopeptidase"""	151530		CD13, PEPN		2428842, 1977688	Standard	NM_001150		Approved	LAP1, gp150, p150	uc002bop.4	P15144	OTTHUMG00000149814	ENST00000300060.6:c.263C>T	15.37:g.90349552G>A	ENSP00000300060:p.Thr88Met						p.T88M	NM_001150	NP_001141	P15144	AMPN_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		2	555	-	Lung NSC(78;0.0221)|all_lung(78;0.0448)		88			Extracellular.|Metalloprotease.		Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Missense_Mutation	SNP	ENST00000300060.6	37	c.263C>T	CCDS10356.1	.	.	.	.	.	.	.	.	.	.	G	12.39	1.923559	0.33908	.	.	ENSG00000166825	ENST00000300060	T	0.02837	4.14	4.74	-8.08	0.01094	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	1.196930	0.05794	N	0.610875	T	0.03220	0.0094	M	0.68728	2.09	0.09310	N	1	P	0.48230	0.907	B	0.43658	0.426	T	0.32079	-0.9920	10	0.33940	T	0.23	.	0.4847	0.00554	0.2221:0.2032:0.1955:0.3793	.	88	P15144	AMPN_HUMAN	M	88	ENSP00000300060:T88M	ENSP00000300060:T88M	T	-	2	0	ANPEP	88150556	0.000000	0.05858	0.002000	0.10522	0.246000	0.25737	-0.787000	0.04618	-0.942000	0.03695	0.467000	0.42956	ACG		0.597	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313425.1		
NOD2	64127	broad.mit.edu	37	16	50745689	50745689	+	Missense_Mutation	SNP	C	C	G			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr16:50745689C>G	ENST00000300589.2	+	4	1972	c.1867C>G	c.(1867-1869)Cca>Gca	p.P623A	RP11-327F22.6_ENST00000602304.1_RNA	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	623					activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				TGATGTGCCACCAGCTTTGCT	0.582																																						uc002egm.1																			0				ovary(3)|skin(1)	4						c.(1867-1869)CCA>GCA		nucleotide-binding oligomerization domain							85.0	68.0	74.0					16																	50745689		2198	4300	6498	SO:0001583	missense	64127				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding	g.chr16:50745689C>G	AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"""Nucleotide-binding domain and leucine rich repeat containing"""	5331	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2"", ""NOD-like receptor C2"", ""NLR family, CARD domain containing 2"""	605956	"""caspase recruitment domain family, member 15"""	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.1867C>G	16.37:g.50745689C>G	ENSP00000300589:p.Pro623Ala					NOD2_uc010cbk.1_Missense_Mutation_p.P596A|NOD2_uc002egl.1_Missense_Mutation_p.P401A|NOD2_uc010cbl.1_Missense_Mutation_p.P401A|NOD2_uc010cbm.1_Missense_Mutation_p.P401A|NOD2_uc010cbn.1_RNA|NOD2_uc010cbo.1_RNA|NOD2_uc010cbp.1_5'Flank|NOD2_uc010cbq.1_5'Flank|NOD2_uc010cbr.1_5'Flank	p.P623A	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN			4	1972	+		all_cancers(37;0.0156)	623					E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Missense_Mutation	SNP	ENST00000300589.2	37	c.1867C>G	CCDS10746.1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.406174	0.00193	.	.	ENSG00000167207	ENST00000526417;ENST00000300589	T	0.68025	-0.3	5.3	-0.334	0.12666	.	0.748570	0.12559	N	0.458301	T	0.56761	0.2007	M	0.76002	2.32	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.09377	0.002;0.004;0.003	T	0.43360	-0.9396	10	0.14252	T	0.57	.	3.9682	0.09441	0.2263:0.3829:0.3124:0.0784	.	407;596;623	D6CHF9;Q9HC29-2;Q9HC29	.;.;NOD2_HUMAN	A	596;623	ENSP00000300589:P623A	ENSP00000300589:P623A	P	+	1	0	NOD2	49303190	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.126000	0.15769	-0.299000	0.08909	0.555000	0.69702	CCA		0.582	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256876.2	NM_022162	
NUP93	9688	broad.mit.edu	37	16	56865910	56865910	+	Silent	SNP	G	G	A	rs531620406		TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr16:56865910G>A	ENST00000308159.5	+	11	1363	c.1242G>A	c.(1240-1242)ctG>ctA	p.L414L	NUP93_ENST00000569842.1_Silent_p.L414L|NUP93_ENST00000564887.1_Silent_p.L291L|NUP93_ENST00000542526.1_Silent_p.L291L	NM_014669.4	NP_055484.3	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	414					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						AGGATTACCTGTGGCTGAAGG	0.502													G|||	1	0.000199681	0.0	0.0	5008	,	,		20913	0.0		0.001	False		,,,				2504	0.0				Colon(33;610 796 1305 1705 38917)	uc002eka.2																			0				ovary(1)|lung(1)	2						c.(1240-1242)CTG>CTA		nucleoporin 93kDa							139.0	120.0	126.0					16																	56865910		2198	4300	6498	SO:0001819	synonymous_variant	9688				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr16:56865910G>A	D42085	CCDS10769.1, CCDS55996.1	16q13	2008-02-05			ENSG00000102900	ENSG00000102900			28958	protein-coding gene	gene with protein product		614351				9348540, 9531546	Standard	NM_014669		Approved	KIAA0095	uc002eka.3	Q8N1F7	OTTHUMG00000133278	ENST00000308159.5:c.1242G>A	16.37:g.56865910G>A						NUP93_uc002ekb.2_Silent_p.L291L|NUP93_uc010vhi.1_Silent_p.L291L	p.L414L	NM_014669	NP_055484	Q8N1F7	NUP93_HUMAN			11	1363	+			414					B3KPQ8|Q14705	Silent	SNP	ENST00000308159.5	37	c.1242G>A	CCDS10769.1																																																																																				0.502	NUP93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257058.4	NM_014669	
CDYL2	124359	broad.mit.edu	37	16	80718650	80718650	+	Missense_Mutation	SNP	G	G	A			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr16:80718650G>A	ENST00000570137.2	-	2	556	c.401C>T	c.(400-402)aCg>aTg	p.T134M	CDYL2_ENST00000562812.1_Missense_Mutation_p.T134M|CDYL2_ENST00000566173.1_Missense_Mutation_p.T134M|CDYL2_ENST00000562753.1_5'UTR|CDYL2_ENST00000563890.1_Missense_Mutation_p.T134M	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	134						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						GTAAGACACCGTCTTGGTGGC	0.537																																						uc002ffs.2																			0				central_nervous_system(1)	1						c.(400-402)ACG>ATG		chromodomain protein, Y-like 2							86.0	90.0	89.0					16																	80718650		2203	4300	6503	SO:0001583	missense	124359					nucleus	catalytic activity|protein binding	g.chr16:80718650G>A	AK096185	CCDS32493.1	16q23.2	2008-02-05	2003-09-12			ENSG00000166446			23030	protein-coding gene	gene with protein product			"""chromodomain Y-like protein 2"""			12837688	Standard	NM_152342		Approved	FLJ38866	uc002ffs.3	Q8N8U2		ENST00000570137.2:c.401C>T	16.37:g.80718650G>A	ENSP00000476295:p.Thr134Met						p.T134M	NM_152342	NP_689555	Q8N8U2	CDYL2_HUMAN			2	506	-			134					Q7Z5I8	Missense_Mutation	SNP	ENST00000570137.2	37	c.401C>T	CCDS32493.1	.	.	.	.	.	.	.	.	.	.	G	14.48	2.548031	0.45383	.	.	ENSG00000166446	ENST00000299564	T	0.57436	0.4	5.14	5.14	0.70334	.	0.211907	0.41001	D	0.000968	T	0.47967	0.1474	N	0.14661	0.345	0.45194	D	0.998209	D	0.60575	0.988	P	0.50708	0.648	T	0.54931	-0.8219	10	0.62326	D	0.03	.	17.7803	0.88522	0.0:0.0:1.0:0.0	.	134	Q8N8U2	CDYL2_HUMAN	M	134	ENSP00000299564:T134M	ENSP00000299564:T134M	T	-	2	0	CDYL2	79276151	1.000000	0.71417	0.981000	0.43875	0.401000	0.30781	5.426000	0.66476	2.665000	0.90641	0.591000	0.81541	ACG		0.537	CDYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434727.2	NM_152342	
NLRP1	22861	broad.mit.edu	37	17	5418262	5418262	+	Nonsense_Mutation	SNP	G	G	A			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr17:5418262G>A	ENST00000572272.1	-	17	4233	c.4234C>T	c.(4234-4236)Cag>Tag	p.Q1412*	NLRP1_ENST00000269280.4_Nonsense_Mutation_p.Q1368*|RNU7-31P_ENST00000517262.1_RNA|NLRP1_ENST00000262467.5_Intron|NLRP1_ENST00000577119.1_Nonsense_Mutation_p.Q1338*|NLRP1_ENST00000354411.3_Nonsense_Mutation_p.Q1382*|NLRP1_ENST00000345221.3_Nonsense_Mutation_p.Q1368*			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	1412	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				CTCTCGTACTGCTCCTGGCTC	0.572																																						uc002gci.2																			0				lung(4)|breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	9						c.(4234-4236)CAG>TAG		NLR family, pyrin domain containing 1 isoform 1							77.0	80.0	79.0					17																	5418262		2139	4254	6393	SO:0001587	stop_gained	22861				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding	g.chr17:5418262G>A	AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"""Nucleotide-binding domain and leucine rich repeat containing"""	14374	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"""	606636	"""NACHT, leucine rich repeat and PYD (pyrin domain) containing 1"", ""systemic lupus erythematosus, vitiligo-related 1"""	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.4234C>T	17.37:g.5418262G>A	ENSP00000460475:p.Gln1412*					NLRP1_uc002gcg.1_Intron|NLRP1_uc002gck.2_Nonsense_Mutation_p.Q1368*|NLRP1_uc002gcj.2_Nonsense_Mutation_p.Q1382*|NLRP1_uc002gcl.2_Nonsense_Mutation_p.Q1338*|NLRP1_uc002gch.3_Nonsense_Mutation_p.Q1368*	p.Q1412*	NM_033004	NP_127497	Q9C000	NALP1_HUMAN			17	4789	-		Colorectal(1115;3.48e-05)	1412			CARD.		E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Nonsense_Mutation	SNP	ENST00000572272.1	37	c.4234C>T	CCDS42246.1	.	.	.	.	.	.	.	.	.	.	G	38	7.117791	0.98074	.	.	ENSG00000091592	ENST00000269280;ENST00000354411;ENST00000345221	.	.	.	5.07	0.299	0.15771	.	1.259230	0.05929	N	0.634760	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	9.838	0.40982	0.0797:0.3877:0.5326:0.0	.	.	.	.	X	1412;1382;1368	.	ENSP00000269280:Q1412X	Q	-	1	0	NLRP1	5358986	0.992000	0.36948	0.020000	0.16555	0.283000	0.27025	1.226000	0.32563	0.226000	0.20979	0.650000	0.86243	CAG		0.572	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439517.1	NM_033004	
DNAH2	146754	broad.mit.edu	37	17	7708677	7708677	+	Silent	SNP	C	C	T	rs200872109		TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr17:7708677C>T	ENST00000572933.1	+	61	10868	c.9408C>T	c.(9406-9408)aaC>aaT	p.N3136N	DNAH2_ENST00000389173.2_Silent_p.N3136N			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3136	Stalk. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.N3136N(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TTCGAGGCAACGAGCCCACAT	0.498													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19185	0.0		0.0	False		,,,				2504	0.0					uc002giu.1																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|skin(6)|central_nervous_system(1)	13						c.(9406-9408)AAC>AAT		dynein heavy chain domain 3							95.0	90.0	92.0					17																	7708677		2203	4300	6503	SO:0001819	synonymous_variant	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7708677C>T	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.9408C>T	17.37:g.7708677C>T						DNAH2_uc010cnm.1_Silent_p.N74N	p.N3136N	NM_020877	NP_065928	Q9P225	DYH2_HUMAN			60	9422	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	3136			Stalk (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Silent	SNP	ENST00000572933.1	37	c.9408C>T	CCDS32551.1																																																																																				0.498	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877	
PRPSAP2	5636	broad.mit.edu	37	17	18833933	18833933	+	Silent	SNP	C	C	T			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr17:18833933C>T	ENST00000268835.2	+	12	1315	c.1032C>T	c.(1030-1032)atC>atT	p.I344I	PRPSAP2_ENST00000419071.2_Silent_p.I304I|PRPSAP2_ENST00000536323.1_Silent_p.I258I|PRPSAP2_ENST00000542013.1_Silent_p.I295I	NM_002767.3	NP_002758.1	O60256	KPRB_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 2	344					bone development (GO:0060348)|negative regulation of catalytic activity (GO:0043086)|nucleobase-containing compound metabolic process (GO:0006139)|nucleotide biosynthetic process (GO:0009165)	ribose phosphate diphosphokinase complex (GO:0002189)	enzyme inhibitor activity (GO:0004857)|magnesium ion binding (GO:0000287)|ribose phosphate diphosphokinase activity (GO:0004749)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						TCAGCATGATCCTTTCAGAGG	0.448																																						uc002gup.1																			0				skin(1)	1						c.(1030-1032)ATC>ATT		phosphoribosyl pyrophosphate							118.0	105.0	109.0					17																	18833933		2203	4300	6503	SO:0001819	synonymous_variant	5636				nucleotide biosynthetic process		enzyme inhibitor activity|magnesium ion binding|ribose phosphate diphosphokinase activity	g.chr17:18833933C>T	AB007851	CCDS11200.1, CCDS58525.1, CCDS58526.1, CCDS58527.1	17p12-p11.2	2008-05-14			ENSG00000141127	ENSG00000141127			9467	protein-coding gene	gene with protein product		603762				9806849	Standard	NM_002767		Approved	PAP41	uc002gup.2	O60256	OTTHUMG00000059406	ENST00000268835.2:c.1032C>T	17.37:g.18833933C>T						PRPSAP2_uc002guo.1_Silent_p.I258I|PRPSAP2_uc010vyi.1_Silent_p.I292I|PRPSAP2_uc010vyj.1_Silent_p.I258I|PRPSAP2_uc010vyk.1_Silent_p.I283I|PRPSAP2_uc002guq.1_Silent_p.I131I	p.I344I	NM_002767	NP_002758	O60256	KPRB_HUMAN			12	1243	+			344					B4E1M8|B4E329|B7ZKZ1|E7EMY2|Q6IAS2	Silent	SNP	ENST00000268835.2	37	c.1032C>T	CCDS11200.1																																																																																				0.448	PRPSAP2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132112.3	NM_002767	
SLC6A4	6532	broad.mit.edu	37	17	28537542	28537542	+	Silent	SNP	G	G	A			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr17:28537542G>A	ENST00000401766.2	-	10	1952	c.1440C>T	c.(1438-1440)acC>acT	p.T480T	SLC6A4_ENST00000261707.3_Silent_p.T480T			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	480					brain morphogenesis (GO:0048854)|cellular response to cGMP (GO:0071321)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|memory (GO:0007613)|monoamine transport (GO:0015844)|negative regulation of cerebellar granule cell precursor proliferation (GO:0021941)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of organ growth (GO:0046621)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein homooligomerization (GO:0051260)|protein oligomerization (GO:0051259)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to toxic substance (GO:0009636)|serotonin transport (GO:0006837)|serotonin uptake (GO:0051610)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|thalamus development (GO:0021794)|vasoconstriction (GO:0042310)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|cocaine binding (GO:0019811)|monoamine transmembrane transporter activity (GO:0008504)|Rab GTPase binding (GO:0017137)|serotonin transmembrane transporter activity (GO:0015222)|serotonin:sodium symporter activity (GO:0005335)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexfenfluramine(DB01191)|Dexmethylphenidate(DB06701)|Dextromethorphan(DB00514)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Levomilnacipran(DB08918)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Pethidine(DB00454)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)	CAAAAGTCAGGGTGACCAGGG	0.582																																						uc002hey.3																			0				skin(3)|ovary(1)	4						c.(1438-1440)ACC>ACT		solute carrier family 6 member 4	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)						104.0	88.0	93.0					17																	28537542		2203	4300	6503	SO:0001819	synonymous_variant	6532				response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity	g.chr17:28537542G>A	L05568	CCDS11256.1	17q11.2	2014-01-30	2013-07-19		ENSG00000108576	ENSG00000108576		"""Solute carriers"""	11050	protein-coding gene	gene with protein product	"""serotonin transporter 1"""	182138	"""solute carrier family 6 (neurotransmitter transporter, serotonin), member 4"", ""5-hydroxytryptamine (serotonin) transporter"", ""obsessive-compulsive disorder 1"""	HTT, OCD1		7681602, 19806148	Standard	NM_001045		Approved	5-HTT, SERT1	uc002hey.5	P31645	OTTHUMG00000132751	ENST00000401766.2:c.1440C>T	17.37:g.28537542G>A						SLC6A4_uc010csg.2_RNA	p.T480T	NM_001045	NP_001036	P31645	SC6A4_HUMAN			11	1984	-			480			Helical; Name=9; (Potential).		Q5EE02	Silent	SNP	ENST00000401766.2	37	c.1440C>T	CCDS11256.1																																																																																				0.582	SLC6A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256115.3	NM_001045	
SMG8	55181	broad.mit.edu	37	17	57288448	57288448	+	Missense_Mutation	SNP	G	G	A			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr17:57288448G>A	ENST00000543872.2	+	2	1300	c.1036G>A	c.(1036-1038)Gac>Aac	p.D346N	CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000580498.1_Intron|SMG8_ENST00000300917.5_Missense_Mutation_p.D346N|SMG8_ENST00000578922.1_Missense_Mutation_p.D346N			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	346					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of protein kinase activity (GO:0045859)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)				NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						CCAGGAGGAGGACCCAGTAGG	0.527																																						uc002ixi.2																			0					0						c.(1036-1038)GAC>AAC		SMG8 protein							75.0	60.0	65.0					17																	57288448		2203	4300	6503	SO:0001583	missense	55181				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding	g.chr17:57288448G>A	AL834490	CCDS11615.1	17q23.2	2013-07-02	2013-07-02	2011-06-21					25551	protein-coding gene	gene with protein product		613175	"""chromosome 17 open reading frame 71"", ""smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf71		19417104	Standard	NM_018149		Approved	FLJ10587, FLJ23205	uc002ixi.3	Q8ND04		ENST00000543872.2:c.1036G>A	17.37:g.57288448G>A	ENSP00000438748:p.Asp346Asn						p.D346N	NM_018149	NP_060619	Q8ND04	SMG8_HUMAN			1	1078	+	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)		346					Q8N5U5|Q8TDN0|Q9H5P5|Q9NVQ1	Missense_Mutation	SNP	ENST00000543872.2	37	c.1036G>A	CCDS11615.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.374971	0.82573	.	.	ENSG00000167447	ENST00000300917;ENST00000543872	T;T	0.69040	-0.37;-0.37	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.80454	0.4626	L	0.59436	1.845	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	T	0.80482	-0.1363	10	0.66056	D	0.02	-17.328	19.2147	0.93772	0.0:0.0:1.0:0.0	.	346	Q8ND04	SMG8_HUMAN	N	346	ENSP00000300917:D346N;ENSP00000438748:D346N	ENSP00000300917:D346N	D	+	1	0	SMG8	54643230	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.471000	0.97696	2.769000	0.95229	0.655000	0.94253	GAC		0.527	SMG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445960.2	NM_018149	
ABCA5	23461	broad.mit.edu	37	17	67305454	67305454	+	Missense_Mutation	SNP	G	G	A			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr17:67305454G>A	ENST00000392676.3	-	4	482	c.418C>T	c.(418-420)Cgt>Tgt	p.R140C	ABCA5_ENST00000392677.2_Missense_Mutation_p.R140C|ABCA5_ENST00000588877.1_Missense_Mutation_p.R140C			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	140					cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	GGAAAAAAACGAAGTTCATAG	0.328																																						uc002jif.2																			0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(418-420)CGT>TGT		ATP-binding cassette, sub-family A , member 5							110.0	114.0	113.0					17																	67305454		2203	4299	6502	SO:0001583	missense	23461				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity	g.chr17:67305454G>A	U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"""ATP binding cassette transporters / subfamily A"""	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.418C>T	17.37:g.67305454G>A	ENSP00000376443:p.Arg140Cys					ABCA5_uc002jig.2_Missense_Mutation_p.R140C|ABCA5_uc002jih.2_Missense_Mutation_p.R140C|ABCA5_uc010dfe.2_Missense_Mutation_p.R140C	p.R140C	NM_018672	NP_061142	Q8WWZ7	ABCA5_HUMAN			3	1636	-	Breast(10;3.72e-11)		140					Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Missense_Mutation	SNP	ENST00000392676.3	37	c.418C>T	CCDS11685.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.987748	0.74589	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	T;T	0.49432	0.78;0.78	5.77	4.77	0.60923	.	0.000000	0.53938	D	0.000057	T	0.67859	0.2938	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.69049	-0.5248	9	.	.	.	.	13.6051	0.62041	0.0:0.0:0.6865:0.3135	.	140;140	Q8WWZ7-2;Q8WWZ7	.;ABCA5_HUMAN	C	140	ENSP00000376444:R140C;ENSP00000376443:R140C	.	R	-	1	0	ABCA5	64817049	0.769000	0.28531	0.968000	0.41197	0.988000	0.76386	1.221000	0.32503	2.728000	0.93425	0.557000	0.71058	CGT		0.328	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	NM_018672	
RECQL5	9400	broad.mit.edu	37	17	73626864	73626864	+	Missense_Mutation	SNP	C	C	G			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr17:73626864C>G	ENST00000317905.5	-	12	1798	c.1639G>C	c.(1639-1641)Gtg>Ctg	p.V547L	RECQL5_ENST00000423245.2_Missense_Mutation_p.V520L|SMIM5_ENST00000375215.3_5'Flank|RECQL5_ENST00000443199.2_5'UTR	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	547	Interaction with POLR2A.				chromosome separation (GO:0051304)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|mitotic nuclear division (GO:0007067)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA helicase activity (GO:0003678)|nucleic acid binding (GO:0003676)|RNA polymerase II core binding (GO:0000993)			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			CTTACCTTCACAGTCAGCCTG	0.657								Other identified genes with known or suspected DNA repair function																														uc010dgl.2																			0				kidney(3)	3						c.(1639-1641)GTG>CTG	Other_identified_genes_with_known_or_suspected_DNA_repair_function	RecQ protein-like 5 isoform 1							16.0	22.0	20.0					17																	73626864		1904	4117	6021	SO:0001583	missense	9400				DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding	g.chr17:73626864C>G	AB006533	CCDS32735.1, CCDS42380.1, CCDS45777.1	17q25	2014-03-07	2014-03-07	2014-03-07	ENSG00000108469	ENSG00000108469			9950	protein-coding gene	gene with protein product	"""RecQ protein 5"""	603781				9878247	Standard	NM_004259		Approved	RecQ5, FLJ90603	uc010dgl.3	O94762		ENST00000317905.5:c.1639G>C	17.37:g.73626864C>G	ENSP00000317636:p.Val547Leu					RECQL5_uc010dgk.2_Missense_Mutation_p.V520L|RECQL5_uc002jot.3_5'Flank|LOC643008_uc002jow.2_5'Flank	p.V547L	NM_004259	NP_004250	O94762	RECQ5_HUMAN	all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)		12	1795	-	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		547					Q9H0B1|Q9P1W7|Q9UNC8	Missense_Mutation	SNP	ENST00000317905.5	37	c.1639G>C	CCDS42380.1	.	.	.	.	.	.	.	.	.	.	C	16.03	3.008457	0.54361	.	.	ENSG00000108469	ENST00000443199;ENST00000423245;ENST00000317905	T	0.59224	0.28	5.43	5.43	0.79202	.	0.075580	0.52532	D	0.000062	T	0.59865	0.2225	L	0.58669	1.825	0.80722	D	1	B;B	0.33964	0.434;0.434	B;B	0.38056	0.138;0.264	T	0.57318	-0.7832	10	0.32370	T	0.25	-15.8538	19.24	0.93877	0.0:1.0:0.0:0.0	.	547;520	O94762;Q6P4G0	RECQ5_HUMAN;.	L	142;547;547	ENSP00000317636:V547L	ENSP00000317636:V547L	V	-	1	0	RECQL5	71138459	1.000000	0.71417	1.000000	0.80357	0.720000	0.41350	6.501000	0.73691	2.539000	0.85634	0.563000	0.77884	GTG		0.657	RECQL5-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448207.1	NM_004259	
GALK1	2584	broad.mit.edu	37	17	73754163	73754163	+	Missense_Mutation	SNP	C	C	A			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr17:73754163C>A	ENST00000588479.1	-	8	1727	c.1153G>T	c.(1153-1155)Gat>Tat	p.D385Y	GALK1_ENST00000437911.1_Missense_Mutation_p.D415Y|GALK1_ENST00000225614.2_Missense_Mutation_p.D385Y			P51570	GALK1_HUMAN	galactokinase 1	385					carbohydrate metabolic process (GO:0005975)|galactitol metabolic process (GO:0019402)|galactose catabolic process (GO:0019388)|galactose metabolic process (GO:0006012)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|galactokinase activity (GO:0004335)|galactose binding (GO:0005534)			endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	5	all_cancers(13;1.5e-07)		all cancers(21;1.03e-06)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			TTGGCTCCATCGGCTGCTTGA	0.682																																						uc010wsi.1																			0					0						c.(1153-1155)GAT>TAT		galactokinase 1							43.0	41.0	42.0					17																	73754163		2202	4299	6501	SO:0001583	missense	2584				galactose catabolic process	cytosol	ATP binding|galactokinase activity|galactose binding	g.chr17:73754163C>A		CCDS11728.1	17q25.1	2013-09-19			ENSG00000108479	ENSG00000108479	2.7.1.6		4118	protein-coding gene	gene with protein product		604313		GALK		7670469	Standard	NM_000154		Approved		uc002jpk.3	P51570	OTTHUMG00000179832	ENST00000588479.1:c.1153G>T	17.37:g.73754163C>A	ENSP00000465930:p.Asp385Tyr					GALK1_uc002jpk.2_Missense_Mutation_p.D385Y	p.D385Y	NM_000154	NP_000145	P51570	GALK1_HUMAN	all cancers(21;1.03e-06)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		8	1216	-	all_cancers(13;1.5e-07)		385					B2RC07|B4E1G6	Missense_Mutation	SNP	ENST00000588479.1	37	c.1153G>T	CCDS11728.1	.	.	.	.	.	.	.	.	.	.	C	12.68	2.009382	0.35415	.	.	ENSG00000108479	ENST00000225614;ENST00000437911;ENST00000375188	D;D	0.85411	-1.98;-1.98	4.84	2.7	0.31948	.	0.338095	0.30159	N	0.010274	D	0.90765	0.7101	M	0.93939	3.475	0.09310	N	0.999998	D	0.69078	0.997	P	0.54924	0.764	D	0.83720	0.0192	10	0.87932	D	0	.	7.4621	0.27302	0.1643:0.7501:0.0:0.0856	.	385	P51570	GALK1_HUMAN	Y	385;415;393	ENSP00000225614:D385Y;ENSP00000406305:D415Y	ENSP00000225614:D385Y	D	-	1	0	GALK1	71265758	0.369000	0.25039	0.106000	0.21319	0.121000	0.20230	1.543000	0.36147	1.045000	0.40225	0.563000	0.77884	GAT		0.682	GALK1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448430.1		
OR10H3	26532	broad.mit.edu	37	19	15852470	15852470	+	Missense_Mutation	SNP	C	C	T			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr19:15852470C>T	ENST00000305892.1	+	1	268	c.268C>T	c.(268-270)Cat>Tat	p.H90Y		NM_013938.1	NP_039226.1	O60404	O10H3_HUMAN	olfactory receptor, family 10, subfamily H, member 3	90						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						GCTCTTCACCCATCGTTCCAT	0.502																																						uc010xoq.1																			0					0						c.(268-270)CAT>TAT		olfactory receptor, family 10, subfamily H,							564.0	470.0	502.0					19																	15852470		2203	4300	6503	SO:0001583	missense	26532				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15852470C>T		CCDS12334.1	19p13.1	2012-08-09				ENSG00000171936		"""GPCR / Class A : Olfactory receptors"""	8174	protein-coding gene	gene with protein product							Standard	NM_013938		Approved		uc010xoq.2	O60404		ENST00000305892.1:c.268C>T	19.37:g.15852470C>T	ENSP00000307130:p.His90Tyr						p.H90Y	NM_013938	NP_039226	O60404	O10H3_HUMAN			1	268	+			90			Extracellular (Potential).		Q2HIZ3|Q6IFQ0	Missense_Mutation	SNP	ENST00000305892.1	37	c.268C>T	CCDS12334.1	.	.	.	.	.	.	.	.	.	.	.	0.007	-1.998040	0.00435	.	.	ENSG00000171936	ENST00000305892	T	0.05580	3.42	2.35	1.1	0.20463	GPCR, rhodopsin-like superfamily (1);	0.349418	0.20614	U	0.088906	T	0.04227	0.0117	L	0.35542	1.07	0.09310	N	1	B	0.12013	0.005	B	0.11329	0.006	T	0.33007	-0.9885	10	0.46703	T	0.11	.	2.5112	0.04657	0.2901:0.533:0.0:0.1769	.	90	O60404	O10H3_HUMAN	Y	90	ENSP00000307130:H90Y	ENSP00000307130:H90Y	H	+	1	0	OR10H3	15713470	0.000000	0.05858	0.201000	0.23476	0.053000	0.15095	-0.120000	0.10660	1.320000	0.45209	0.185000	0.17295	CAT		0.502	OR10H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460918.1		
CPAMD8	27151	broad.mit.edu	37	19	17017835	17017835	+	Silent	SNP	G	G	A			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr19:17017835G>A	ENST00000443236.1	-	30	4126	c.4095C>T	c.(4093-4095)taC>taT	p.Y1365Y	RN7SL835P_ENST00000579920.1_RNA	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1318						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GGGTCAGCGCGTAGGTAGTCA	0.662																																						uc002nfb.2																			0				ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13						c.(4093-4095)TAC>TAT		C3 and PZP-like, alpha-2-macroglobulin domain							28.0	36.0	34.0					19																	17017835		2147	4256	6403	SO:0001819	synonymous_variant	27151					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr19:17017835G>A	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.4095C>T	19.37:g.17017835G>A							p.Y1365Y	NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN			30	4127	-			1318					Q8NC09|Q9ULD7	Silent	SNP	ENST00000443236.1	37	c.4095C>T	CCDS42519.1	.	.	.	.	.	.	.	.	.	.	G	0.029	-1.345643	0.01266	.	.	ENSG00000160111	ENST00000443236	.	.	.	3.09	-0.494	0.12034	.	.	.	.	.	T	0.56934	0.2019	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49661	-0.8916	4	.	.	.	.	10.041	0.42158	0.2501:0.0:0.7499:0.0	.	.	.	.	M	1376	.	.	T	-	2	0	CPAMD8	16878835	0.996000	0.38824	0.039000	0.18376	0.005000	0.04900	0.160000	0.16462	-0.424000	0.07382	-1.349000	0.01238	ACG		0.662	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692	
ZNF724P	440519	broad.mit.edu	37	19	23406220	23406220	+	Missense_Mutation	SNP	T	T	C			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr19:23406220T>C	ENST00000418100.1	-	4	944	c.827A>G	c.(826-828)cAt>cGt	p.H276R				A8MTY0	ZN724_HUMAN	zinc finger protein 724, pseudogene	276					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(1)|lung(2)|ovary(2)	8						CTCTCCAGTATGAATTATCTT	0.358																																						uc010xri.1																			0											c.(826-828)CAT>CGT		SubName: Full=cDNA FLJ56866, moderately similar to Zinc finger protein 43;																																				SO:0001583	missense	0							g.chr19:23406220T>C			19p12	2014-02-14	2010-08-03		ENSG00000196081	ENSG00000196081			32460	pseudogene	pseudogene			"""zinc finger protein 724 pseudogene"", ""zinc finger protein 724 (pseudogene)"""				Standard	NR_045525		Approved		uc021uru.1	A8MTY0	OTTHUMG00000183231	ENST00000418100.1:c.827A>G	19.37:g.23406220T>C	ENSP00000413411:p.His276Arg						p.H276R							4	945	-									Missense_Mutation	SNP	ENST00000418100.1	37	c.827A>G		.	.	.	.	.	.	.	.	.	.	T	11.71	1.720444	0.30503	.	.	ENSG00000196081	ENST00000418100	T	0.67523	-0.27	1.09	1.09	0.20402	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.75961	0.3921	.	.	.	0.33473	D	0.586505	D	0.76494	0.999	D	0.66602	0.945	T	0.78388	-0.2223	8	0.72032	D	0.01	.	7.0721	0.25183	0.0:0.0:0.0:1.0	.	276	A8MTY0	ZN724_HUMAN	R	276	ENSP00000413411:H276R	ENSP00000413411:H276R	H	-	2	0	ZNF724P	23198060	1.000000	0.71417	0.019000	0.16419	0.018000	0.09664	3.624000	0.54231	0.413000	0.25759	0.402000	0.26972	CAT		0.358	ZNF724P-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000465743.1		
WDR62	284403	broad.mit.edu	37	19	36583666	36583668	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr19:36583666_36583668delGCA	ENST00000270301.7	+	19	2286_2288	c.2286_2288delGCA	c.(2284-2289)cggcag>cgg	p.Q766del	WDR62_ENST00000401500.2_In_Frame_Del_p.Q766del			O43379	WDR62_HUMAN	WD repeat domain 62	766					cerebral cortex development (GO:0021987)|neurogenesis (GO:0022008)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle pole (GO:0000922)				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TTGACCACCGGCAGCAGCAGCAG	0.616																																						uc002odc.2																			0					0						c.(2284-2289)CGGCAG>CGG		WD repeat domain 62 isoform 2																																				SO:0001651	inframe_deletion	284403				cerebral cortex development	nucleus		g.chr19:36583666_36583668delGCA	BX647726	CCDS33001.1, CCDS46059.1	19q13.12	2013-01-09	2005-05-09	2005-05-09	ENSG00000075702	ENSG00000075702		"""WD repeat domain containing"""	24502	protein-coding gene	gene with protein product		613583	"""chromosome 19 open reading frame 14"", ""microcephaly, primary autosomal recessive 2"""	C19orf14, MCPH2		19910486, 20729831, 20890278, 21496009	Standard	NM_001083961		Approved	DKFZP434J046, FLJ33298	uc002odd.2	O43379	OTTHUMG00000048139	ENST00000270301.7:c.2286_2288delGCA	19.37:g.36583675_36583677delGCA	ENSP00000270301:p.Gln766del					WDR62_uc002odd.2_In_Frame_Del_p.Q766del	p.Q766del	NM_173636	NP_775907	O43379	WDR62_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		19	2377_2379	+	Esophageal squamous(110;0.162)		766					Q63HP9|Q659D7|Q8NBF7|Q96AD9	In_Frame_Del	DEL	ENST00000270301.7	37	c.2286_2288delGCA	CCDS33001.1																																																																																				0.616	WDR62-006	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457436.1	NM_015671	
PSG1	5669	broad.mit.edu	37	19	43373123	43373123	+	Nonsense_Mutation	SNP	A	A	C			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr19:43373123A>C	ENST00000436291.2	-	4	889	c.773T>G	c.(772-774)tTa>tGa	p.L258*	PSG1_ENST00000244296.2_Nonsense_Mutation_p.L258*|PSG1_ENST00000595356.1_Nonsense_Mutation_p.L258*|PSG1_ENST00000403380.3_Nonsense_Mutation_p.L165*|PSG1_ENST00000595124.1_Nonsense_Mutation_p.L165*|PSG1_ENST00000312439.6_Nonsense_Mutation_p.L258*	NM_001184825.1|NM_001184826.1	NP_001171754.1|NP_001171755.1	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1	258	Ig-like C2-type 2.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				GGTGAAGTTTAAGACATCCTT	0.488																																						uc002ovb.2																			0				ovary(2)	2						c.(772-774)TTA>TGA		pregnancy specific beta-1-glycoprotein 1							232.0	248.0	242.0					19																	43373123		1509	2709	4218	SO:0001587	stop_gained	5669				female pregnancy	extracellular region		g.chr19:43373123A>C		CCDS12612.1, CCDS54275.1, CCDS59392.1, CCDS74380.1	19q13.2	2013-01-29			ENSG00000231924	ENSG00000231924		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9514	protein-coding gene	gene with protein product		176390		PSBG1			Standard	NM_006905		Approved	PSGGA, CD66f, PBG1		P11464	OTTHUMG00000151123	ENST00000436291.2:c.773T>G	19.37:g.43373123A>C	ENSP00000413041:p.Leu258*					PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Nonsense_Mutation_p.L258*|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG1_uc002oun.2_RNA|PSG1_uc002our.1_Nonsense_Mutation_p.L258*|PSG1_uc010eio.1_Nonsense_Mutation_p.L258*|PSG1_uc002oux.1_Nonsense_Mutation_p.L187*|PSG1_uc002ouy.1_Intron|PSG1_uc002ouz.1_Nonsense_Mutation_p.L258*|PSG1_uc002ova.1_Nonsense_Mutation_p.L165*|PSG1_uc002ovc.2_Nonsense_Mutation_p.L165*|PSG1_uc002ovd.1_Nonsense_Mutation_p.L258*	p.L258*	NM_006905	NP_008836	P11464	PSG1_HUMAN			4	911	-		Prostate(69;0.00682)	258			Ig-like C2-type 2.		O75236|P11462|P11463|Q15231|Q15241|Q15243|Q16660|Q6ICR4|Q9P1W5|Q9UQ79	Nonsense_Mutation	SNP	ENST00000436291.2	37	c.773T>G	CCDS54275.1	.	.	.	.	.	.	.	.	.	.	N	13.46	2.242611	0.39598	.	.	ENSG00000231924	ENST00000436291;ENST00000403380;ENST00000312439;ENST00000244296	.	.	.	1.47	0.371	0.16168	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	2.9111	0.05737	0.7011:0.0:0.2989:0.0	.	.	.	.	X	258;165;258;258	.	ENSP00000244296:L258X	L	-	2	0	PSG1	48064963	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.482000	0.22276	0.649000	0.30751	0.155000	0.16302	TTA		0.488	PSG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321426.1		
MFSD2B	388931	broad.mit.edu	37	2	24247038	24247038	+	Missense_Mutation	SNP	G	G	A			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr2:24247038G>A	ENST00000406420.3	+	13	1403	c.1387G>A	c.(1387-1389)Gcc>Acc	p.A463T	MFSD2B_ENST00000338315.4_Missense_Mutation_p.A463T	NM_001080473.1	NP_001073942.1	A6NFX1	MFS2B_HUMAN	major facilitator superfamily domain containing 2B	463					transport (GO:0006810)	integral component of membrane (GO:0016021)		p.A463T(1)		cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						CCTCATTGGCGCCGTGCCCAC	0.607																																						uc002reo.1																			1	Substitution - Missense(1)		large_intestine(1)	ovary(2)	2						c.(1387-1389)GCC>ACC		major facilitator superfamily domain containing							62.0	72.0	69.0					2																	24247038		2109	4231	6340	SO:0001583	missense	388931				transport	integral to membrane		g.chr2:24247038G>A		CCDS46228.1	2p23.3	2010-05-11			ENSG00000205639	ENSG00000205639			37207	protein-coding gene	gene with protein product						18694395	Standard	NM_001080473		Approved		uc002reo.2	A6NFX1	OTTHUMG00000090819	ENST00000406420.3:c.1387G>A	2.37:g.24247038G>A	ENSP00000385527:p.Ala463Thr						p.A463T	NM_001080473	NP_001073942	A6NFX1	MFS2B_HUMAN			13	1401	+			463			Helical; (Potential).		B5MC32	Missense_Mutation	SNP	ENST00000406420.3	37	c.1387G>A	CCDS46228.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.032328	0.54790	.	.	ENSG00000205639	ENST00000406420;ENST00000338315	D;D	0.88818	-2.43;-2.43	4.93	4.93	0.64822	Major facilitator superfamily domain, general substrate transporter (1);	0.068242	0.56097	U	0.000025	D	0.91570	0.7337	M	0.71581	2.175	0.32785	N	0.501925	D	0.56746	0.977	P	0.52514	0.701	D	0.93483	0.6829	10	0.45353	T	0.12	-12.6105	17.1616	0.86805	0.0:0.0:1.0:0.0	.	463	A6NFX1	MFS2B_HUMAN	T	463	ENSP00000385527:A463T;ENSP00000342501:A463T	ENSP00000342501:A463T	A	+	1	0	MFSD2B	24100542	0.992000	0.36948	0.487000	0.27428	0.752000	0.42762	3.595000	0.54016	2.497000	0.84241	0.456000	0.33151	GCC		0.607	MFSD2B-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000324307.1	NM_001080473	
VAX2	25806	broad.mit.edu	37	2	71160172	71160172	+	Silent	SNP	G	G	A	rs144443163	byFrequency	TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr2:71160172G>A	ENST00000234392.2	+	3	743	c.711G>A	c.(709-711)gcG>gcA	p.A237A	ATP6V1B1_ENST00000234396.4_5'Flank|snoU13_ENST00000459218.1_RNA|ATP6V1B1_ENST00000412314.1_5'Flank	NM_012476.2	NP_036608.1	Q9UIW0	VAX2_HUMAN	ventral anterior homeobox 2	237					axonogenesis (GO:0007409)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic eye morphogenesis (GO:0048048)|forebrain development (GO:0030900)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|retina development in camera-type eye (GO:0060041)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	7						CGGCCTCAGCGTCCCCCCCAC	0.692													G|||	2	0.000399361	0.0015	0.0	5008	,	,		12140	0.0		0.0	False		,,,				2504	0.0					uc002shh.2																			0					0						c.(709-711)GCG>GCA		ventral anterior homeobox 2		G		10,4396	15.5+/-35.6	0,10,2193	23.0	26.0	25.0		711	-6.5	0.0	2	dbSNP_134	25	0,8598		0,0,4299	no	coding-synonymous	VAX2	NM_012476.2		0,10,6492	AA,AG,GG		0.0,0.227,0.0769		237/291	71160172	10,12994	2203	4299	6502	SO:0001819	synonymous_variant	25806				ectoderm development|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:71160172G>A	Y17791	CCDS1911.1	2p13.3	2011-06-20			ENSG00000116035	ENSG00000116035		"""Homeoboxes / ANTP class : NKL subclass"""	12661	protein-coding gene	gene with protein product		604295				10485894	Standard	NM_012476		Approved	DRES93	uc002shh.3	Q9UIW0	OTTHUMG00000129714	ENST00000234392.2:c.711G>A	2.37:g.71160172G>A						ATP6V1B1_uc002shi.1_5'Flank|ATP6V1B1_uc002shj.2_5'Flank|ATP6V1B1_uc010fdv.2_5'Flank|ATP6V1B1_uc010fdw.2_5'Flank	p.A237A	NM_012476	NP_036608	Q9UIW0	VAX2_HUMAN			3	743	+			237					Q53Y33	Silent	SNP	ENST00000234392.2	37	c.711G>A	CCDS1911.1																																																																																				0.692	VAX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251923.1		
EXOC6B	23233	broad.mit.edu	37	2	72692422	72692422	+	Missense_Mutation	SNP	T	T	A			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr2:72692422T>A	ENST00000272427.6	-	18	1977	c.1847A>T	c.(1846-1848)cAg>cTg	p.Q616L	EXOC6B_ENST00000410104.1_Missense_Mutation_p.Q616L	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN	exocyst complex component 6B	616					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						GTCAATCTTCTGGTTTAAGTT	0.393																																						uc010fep.2																			0				central_nervous_system(2)	2						c.(1846-1848)CAG>CTG		SEC15-like 2							124.0	118.0	120.0					2																	72692422		1916	4128	6044	SO:0001583	missense	23233				protein transport|vesicle docking involved in exocytosis	exocyst		g.chr2:72692422T>A	AB023136	CCDS46333.1	2p13.2	2013-01-22	2006-11-07	2006-11-07	ENSG00000144036	ENSG00000144036			17085	protein-coding gene	gene with protein product		607880	"""SEC15-like 2 (S. cerevisiae)"", ""SEC15 homolog B (S. cerevisiae)"""	SEC15L2, SEC15B		10231032, 11406615	Standard	NM_015189		Approved	KIAA0919	uc010fep.3	Q9Y2D4	OTTHUMG00000152723	ENST00000272427.6:c.1847A>T	2.37:g.72692422T>A	ENSP00000272427:p.Gln616Leu					EXOC6B_uc002sij.2_Missense_Mutation_p.Q616L	p.Q616L	NM_015189	NP_056004	Q9Y2D4	EXC6B_HUMAN			18	1985	-			616					B8ZZY3	Missense_Mutation	SNP	ENST00000272427.6	37	c.1847A>T	CCDS46333.1	.	.	.	.	.	.	.	.	.	.	T	15.76	2.929815	0.52759	.	.	ENSG00000144036	ENST00000272427;ENST00000410104;ENST00000290144	T;T	0.31247	1.5;1.5	5.33	5.33	0.75918	.	0.211887	0.42821	D	0.000657	T	0.36524	0.0970	M	0.76574	2.34	0.49798	D	0.999822	B;B	0.34372	0.451;0.082	B;B	0.33042	0.157;0.059	T	0.32745	-0.9895	10	0.59425	D	0.04	.	14.4082	0.67096	0.0:0.0:0.0:1.0	.	616;616	Q9Y2D4;Q9Y2D4-2	EXC6B_HUMAN;.	L	616	ENSP00000272427:Q616L;ENSP00000386698:Q616L	ENSP00000272427:Q616L	Q	-	2	0	EXOC6B	72545930	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.095000	0.57728	2.139000	0.66308	0.482000	0.46254	CAG		0.393	EXOC6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327558.1	XM_039570	
SPTLC3	55304	broad.mit.edu	37	20	13052931	13052931	+	Missense_Mutation	SNP	G	G	C			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr20:13052931G>C	ENST00000399002.2	+	3	605	c.331G>C	c.(331-333)Gaa>Caa	p.E111Q	SPTLC3_ENST00000378194.4_Missense_Mutation_p.E111Q	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	111					small molecule metabolic process (GO:0044281)|sphingoid biosynthetic process (GO:0046520)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25						TCAAGACTTTGAAAATTTTTA	0.428																																						uc002wod.1																			0					0						c.(331-333)GAA>CAA		serine palmitoyltransferase, long chain base	Pyridoxal Phosphate(DB00114)						117.0	124.0	121.0					20																	13052931		1825	4077	5902	SO:0001583	missense	55304				sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups	g.chr20:13052931G>C	AL109983	CCDS13115.2	20p12.1	2011-07-05	2006-12-21	2006-12-21	ENSG00000172296	ENSG00000172296	2.3.1.50		16253	protein-coding gene	gene with protein product		611120	"""chromosome 20 open reading frame 38"", ""serine palmitoyltransferase, long chain base subunit 2-like (aminotransferase 2)"""	C20orf38, SPTLC2L		17023427	Standard	NM_018327		Approved	LCB2B, FLJ11112, hLCB2b	uc002wod.1	Q9NUV7	OTTHUMG00000031899	ENST00000399002.2:c.331G>C	20.37:g.13052931G>C	ENSP00000381968:p.Glu111Gln						p.E111Q	NM_018327	NP_060797	Q9NUV7	SPTC3_HUMAN			3	620	+			111					A2A2I4|B9EK64|Q05DQ8|Q5T1U4|Q9H1L1|Q9H1Z0	Missense_Mutation	SNP	ENST00000399002.2	37	c.331G>C	CCDS13115.2	.	.	.	.	.	.	.	.	.	.	G	29.5	5.009439	0.93346	.	.	ENSG00000172296	ENST00000434210;ENST00000399002;ENST00000378194;ENST00000450297	T;T;T;T	0.71698	-0.59;-0.59;-0.59;-0.59	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	D	0.88202	0.6373	M	0.92317	3.295	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	D	0.91063	0.4887	10	0.87932	D	0	-25.1433	18.7708	0.91892	0.0:0.0:1.0:0.0	.	111	Q9NUV7	SPTC3_HUMAN	Q	111;111;111;84	ENSP00000389749:E111Q;ENSP00000381968:E111Q;ENSP00000367436:E111Q;ENSP00000409125:E84Q	ENSP00000367436:E111Q	E	+	1	0	SPTLC3	13000931	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.980000	0.88113	2.437000	0.82529	0.655000	0.94253	GAA		0.428	SPTLC3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254544.1	NM_018327	
KRTAP10-11	386678	broad.mit.edu	37	21	46066487	46066487	+	Missense_Mutation	SNP	G	G	A	rs373410945		TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr21:46066487G>A	ENST00000334670.8	+	1	157	c.112G>A	c.(112-114)Gcc>Acc	p.A38T	TSPEAR_ENST00000323084.4_Intron	NM_198692.2	NP_941965.2	P60412	KR10B_HUMAN	keratin associated protein 10-11	38	25 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	12						CAGCTGCTGCGCCCCGGCCCC	0.697													G|||	1	0.000199681	0.0	0.0	5008	,	,		13955	0.0		0.001	False		,,,				2504	0.0					uc002zfr.3																			0				ovary(1)	1						c.(112-114)GCC>ACC		keratin associated protein 10-11		G	,THR/ALA	3,4255		0,3,2126	26.0	30.0	28.0		,112	-6.3	0.8	21		28	0,8458		0,0,4229	no	intron,missense	TSPEAR,KRTAP10-11	NM_144991.2,NM_198692.2	,58	0,3,6355	AA,AG,GG		0.0,0.0705,0.0236	,benign	,38/299	46066487	3,12713	2129	4229	6358	SO:0001583	missense	386678					keratin filament		g.chr21:46066487G>A	AB076359	CCDS42962.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000243489	ENSG00000243489		"""Keratin associated proteins"""	20528	protein-coding gene	gene with protein product			"""keratin associated protein 10-11"""	KRTAP18-11			Standard	NM_198692		Approved	KRTAP18.11, KAP18.11, KAP10.11	uc002zfr.4	P60412	OTTHUMG00000057626	ENST00000334670.8:c.112G>A	21.37:g.46066487G>A	ENSP00000334197:p.Ala38Thr					C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.A38T	NM_198692	NP_941965	P60412	KR10B_HUMAN			1	157	+			38			2.|25 X 5 AA repeats of C-C-X(3).		A2RRF9	Missense_Mutation	SNP	ENST00000334670.8	37	c.112G>A	CCDS42962.1	.	.	.	.	.	.	.	.	.	.	g	0.792	-0.758538	0.03019	7.05E-4	0.0	ENSG00000243489	ENST00000334670	T	0.04654	3.58	3.34	-6.3	0.02007	.	.	.	.	.	T	0.02888	0.0086	L	0.35542	1.07	0.20873	N	0.999838	B	0.10296	0.003	B	0.04013	0.001	T	0.45977	-0.9224	9	0.29301	T	0.29	.	2.6499	0.04995	0.2961:0.1188:0.4652:0.1199	.	38	P60412	KR10B_HUMAN	T	38	ENSP00000334197:A38T	ENSP00000334197:A38T	A	+	1	0	KRTAP10-11	44890915	0.000000	0.05858	0.795000	0.32087	0.048000	0.14542	-3.693000	0.00391	-0.784000	0.04528	-1.792000	0.00626	GCC		0.697	KRTAP10-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128029.1	NM_198692	
CECR6	27439	broad.mit.edu	37	22	17600851	17600851	+	Silent	SNP	C	C	T			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr22:17600851C>T	ENST00000331437.3	-	1	1292	c.1167G>A	c.(1165-1167)cgG>cgA	p.R389R	CECR6_ENST00000399875.1_Silent_p.R34R|AC006946.15_ENST00000441544.1_5'Flank	NM_031890.3	NP_114096.1	Q9BXQ6	CECR6_HUMAN	cat eye syndrome chromosome region, candidate 6	389										haematopoietic_and_lymphoid_tissue(1)	1		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.221)		CCGCGCGGTGCCGCTGGGGCT	0.736																																						uc002zmb.2																			0					0						c.(1165-1167)CGG>CGA		cat eye syndrome chromosome region, candidate 6							7.0	7.0	7.0					22																	17600851		2127	4143	6270	SO:0001819	synonymous_variant	27439							g.chr22:17600851C>T	AF307451	CCDS13740.1, CCDS54494.1	22q11.2	2008-06-12			ENSG00000183307	ENSG00000183307			1844	protein-coding gene	gene with protein product						11381032	Standard	NM_031890		Approved		uc002zmb.2	Q9BXQ6	OTTHUMG00000030471	ENST00000331437.3:c.1167G>A	22.37:g.17600851C>T						CECR6_uc002zma.2_Silent_p.R34R|uc002zmc.2_5'Flank	p.R389R	NM_031890	NP_114096	Q9BXQ6	CECR6_HUMAN		Colorectal(9;0.221)	1	1363	-		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)	389					A8MYY1	Silent	SNP	ENST00000331437.3	37	c.1167G>A	CCDS13740.1																																																																																				0.736	CECR6-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000075359.4	NM_031890	
GNB1L	54584	broad.mit.edu	37	22	19794193	19794193	+	Missense_Mutation	SNP	G	G	C			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr22:19794193G>C	ENST00000329517.6	-	6	741	c.505C>G	c.(505-507)Cgg>Ggg	p.R169G	GNB1L_ENST00000403325.1_Missense_Mutation_p.R169G|GNB1L_ENST00000405009.1_Missense_Mutation_p.R169G|GNB1L_ENST00000460402.1_5'UTR	NM_053004.2	NP_443730.1	Q9BYB4	GNB1L_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1-like	169					G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|social behavior (GO:0035176)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)				breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	12	Colorectal(54;0.0993)					TGCCACAGCCGCAGGCACATG	0.607																																						uc002zqe.1																			0				breast(1)	1						c.(505-507)CGG>GGG		guanine nucleotide binding protein							40.0	33.0	35.0					22																	19794193		2203	4300	6503	SO:0001583	missense	54584				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	internal side of plasma membrane|intracellular		g.chr22:19794193G>C	AF238328	CCDS13768.1	22q11.2	2013-05-21			ENSG00000185838	ENSG00000185838		"""WD repeat domain containing"""	4397	protein-coding gene	gene with protein product		610778				11072084	Standard	NM_053004		Approved	GY2, WDR14	uc002zqf.1	Q9BYB4	OTTHUMG00000150279	ENST00000329517.6:c.505C>G	22.37:g.19794193G>C	ENSP00000331313:p.Arg169Gly					GNB1L_uc002zqd.1_Missense_Mutation_p.R25G|GNB1L_uc002zqf.1_Missense_Mutation_p.R169G	p.R169G	NM_053004	NP_443730	Q9BYB4	GNB1L_HUMAN			5	899	-	Colorectal(54;0.0993)		169			WD 3.		Q9H2S2|Q9H4M4	Missense_Mutation	SNP	ENST00000329517.6	37	c.505C>G	CCDS13768.1	.	.	.	.	.	.	.	.	.	.	G	13.59	2.282043	0.40394	.	.	ENSG00000185838	ENST00000329517;ENST00000403325;ENST00000405009	T;T;T	0.18502	2.21;2.21;5.0	5.21	-3.71	0.04424	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.728469	0.11810	N	0.527295	T	0.04998	0.0134	N	0.02539	-0.55	0.23620	N	0.997273	B	0.06786	0.001	B	0.04013	0.001	T	0.40327	-0.9569	10	0.22109	T	0.4	-23.0731	6.6685	0.23056	0.0:0.2097:0.2642:0.5262	.	169	Q9BYB4	GNB1L_HUMAN	G	169	ENSP00000331313:R169G;ENSP00000385154:R169G;ENSP00000384626:R169G	ENSP00000331313:R169G	R	-	1	2	GNB1L	18174193	0.175000	0.23083	0.955000	0.39395	0.991000	0.79684	-0.684000	0.05173	-0.600000	0.05790	-0.165000	0.13383	CGG		0.607	GNB1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075202.1		
CSF2RB	1439	broad.mit.edu	37	22	37325775	37325775	+	Missense_Mutation	SNP	G	G	A	rs149714683		TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr22:37325775G>A	ENST00000403662.3	+	6	866	c.644G>A	c.(643-645)cGc>cAc	p.R215H	CSF2RB_ENST00000536485.1_Missense_Mutation_p.R156H|CSF2RB_ENST00000262825.5_Missense_Mutation_p.R215H|CSF2RB_ENST00000406230.1_Missense_Mutation_p.R215H			P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	215	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)|interleukin-5-mediated signaling pathway (GO:0038043)|respiratory gaseous exchange (GO:0007585)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	granulocyte macrophage colony-stimulating factor receptor complex (GO:0030526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	GTACGGACCCGCCTGGCCCCA	0.647													G|||	1	0.000199681	0.0	0.0	5008	,	,		18174	0.001		0.0	False		,,,				2504	0.0					uc003aqa.3																			0				skin(2)|pancreas(1)	3						c.(643-645)CGC>CAC		colony stimulating factor 2 receptor, beta	Sargramostim(DB00020)	G	HIS/ARG	0,4406		0,0,2203	34.0	36.0	36.0		644	-0.7	0.0	22	dbSNP_134	36	6,8594	5.0+/-18.6	0,6,4294	yes	missense	CSF2RB	NM_000395.2	29	0,6,6497	AA,AG,GG		0.0698,0.0,0.0461	possibly-damaging	215/898	37325775	6,13000	2203	4300	6503	SO:0001583	missense	1439				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity	g.chr22:37325775G>A	M59941	CCDS13936.1	22q12.3	2014-09-09			ENSG00000100368	ENSG00000100368		"""CD molecules"", ""Fibronectin type III domain containing"""	2436	protein-coding gene	gene with protein product		138981		IL3RB		1833064, 1424804	Standard	NM_000395		Approved	IL5RB, CD131	uc003aqa.4	P32927	OTTHUMG00000150546	ENST00000403662.3:c.644G>A	22.37:g.37325775G>A	ENSP00000384053:p.Arg215His					CSF2RB_uc003aqc.3_Missense_Mutation_p.R215H	p.R215H	NM_000395	NP_000386	P32927	IL3RB_HUMAN			6	861	+			215			Fibronectin type-III 1.|Extracellular (Potential).		Q5JZI1|Q6ICE0	Missense_Mutation	SNP	ENST00000403662.3	37	c.644G>A	CCDS13936.1	.	.	.	.	.	.	.	.	.	.	G	6.959	0.546894	0.13312	0.0	6.98E-4	ENSG00000100368	ENST00000403662;ENST00000539104;ENST00000262825;ENST00000406230;ENST00000421539;ENST00000536485	T;T;T;T;T	0.70045	-0.45;-0.45;-0.45;-0.45;-0.45	5.37	-0.721	0.11189	Fibronectin, type III (3);Immunoglobulin-like fold (1);	2.133070	0.02404	N	0.080945	T	0.46249	0.1383	L	0.33245	0.995	0.09310	N	1	P;B	0.47034	0.889;0.364	B;B	0.28849	0.095;0.01	T	0.46665	-0.9175	10	0.31617	T	0.26	-13.1409	4.8095	0.13337	0.4115:0.0:0.4463:0.1422	.	215;215	P32927-2;P32927	.;IL3RB_HUMAN	H	215;215;215;215;135;156	ENSP00000384053:R215H;ENSP00000262825:R215H;ENSP00000385271:R215H;ENSP00000393585:R135H;ENSP00000440003:R156H	ENSP00000262825:R215H	R	+	2	0	CSF2RB	35655721	0.012000	0.17670	0.027000	0.17364	0.012000	0.07955	0.198000	0.17217	0.019000	0.15079	-0.182000	0.12963	CGC		0.647	CSF2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318854.1	NM_000395	
SSTR3	6753	broad.mit.edu	37	22	37603101	37603101	+	Missense_Mutation	SNP	G	G	A			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr22:37603101G>A	ENST00000328544.3	-	2	1275	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	SSTR3_ENST00000402501.1_Missense_Mutation_p.R248W	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	248					cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cerebellum development (GO:0021549)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hormone-mediated apoptotic signaling pathway (GO:0008628)|negative regulation of cell proliferation (GO:0008285)|response to starvation (GO:0042594)|somatostatin signaling pathway (GO:0038170)|spermatogenesis (GO:0007283)	ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14					Pasireotide(DB06663)	GAGCGCCGCCGCCGCTGGCAC	0.667																																						uc003ara.2																			0				lung(1)	1						c.(742-744)CGG>TGG		somatostatin receptor 3							29.0	30.0	30.0					22																	37603101		2195	4279	6474	SO:0001583	missense	6753				G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity	g.chr22:37603101G>A		CCDS13944.1	22q13.1	2012-08-08			ENSG00000183473	ENSG00000278195		"""GPCR / Class A : Somatostatin receptors"""	11332	protein-coding gene	gene with protein product		182453				8449518	Standard	XM_006724311		Approved		uc003arb.3	P32745	OTTHUMG00000150537	ENST00000328544.3:c.742C>T	22.37:g.37603101G>A	ENSP00000330138:p.Arg248Trp					SSTR3_uc003arb.2_Missense_Mutation_p.R248W	p.R248W	NM_001051	NP_001042	P32745	SSR3_HUMAN			2	804	-			248			Cytoplasmic (Potential).		A8K550|Q53ZR7	Missense_Mutation	SNP	ENST00000328544.3	37	c.742C>T	CCDS13944.1	.	.	.	.	.	.	.	.	.	.	G	15.18	2.756665	0.49362	.	.	ENSG00000183473	ENST00000328544;ENST00000402501	T;T	0.46451	0.87;0.87	5.08	3.99	0.46301	GPCR, rhodopsin-like superfamily (1);	0.066696	0.64402	D	0.000020	T	0.69557	0.3124	M	0.90870	3.155	0.46336	D	0.998991	D	0.89917	1.0	D	0.87578	0.998	T	0.77056	-0.2729	10	0.87932	D	0	.	12.8621	0.57920	0.0:0.0:0.7527:0.2473	.	248	P32745	SSR3_HUMAN	W	248	ENSP00000330138:R248W;ENSP00000384904:R248W	ENSP00000330138:R248W	R	-	1	2	SSTR3	35933047	1.000000	0.71417	0.996000	0.52242	0.172000	0.22775	1.665000	0.37449	2.353000	0.79882	0.563000	0.77884	CGG		0.667	SSTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318802.1		
SUSD5	26032	broad.mit.edu	37	3	33194868	33194868	+	Missense_Mutation	SNP	T	T	C			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr3:33194868T>C	ENST00000309558.3	-	5	1673	c.1256A>G	c.(1255-1257)aAg>aGg	p.K419R		NM_015551.1	NP_056366.1	O60279	SUSD5_HUMAN	sushi domain containing 5	419					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	hyaluronic acid binding (GO:0005540)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						ACTCTTGGGCTTCTTAACTTC	0.517																																						uc003cfo.1																			0				ovary(1)|central_nervous_system(1)	2						c.(1255-1257)AAG>AGG		sushi domain containing 5 precursor							81.0	89.0	87.0					3																	33194868		2004	4161	6165	SO:0001583	missense	26032				cell adhesion	integral to membrane	hyaluronic acid binding	g.chr3:33194868T>C	AB011099	CCDS46787.1	3p23	2014-02-12	2006-01-13		ENSG00000173705	ENSG00000173705			29061	protein-coding gene	gene with protein product							Standard	NM_015551		Approved	KIAA0527	uc003cfo.1	O60279	OTTHUMG00000155829	ENST00000309558.3:c.1256A>G	3.37:g.33194868T>C	ENSP00000308727:p.Lys419Arg						p.K419R	NM_015551	NP_056366	O60279	SUSD5_HUMAN			5	1674	-			419			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000309558.3	37	c.1256A>G	CCDS46787.1	.	.	.	.	.	.	.	.	.	.	T	2.715	-0.267969	0.05716	.	.	ENSG00000173705	ENST00000309558	T	0.09255	3.0	5.22	-0.18	0.13295	.	0.774049	0.12320	N	0.479355	T	0.06554	0.0168	L	0.31926	0.97	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.38394	-0.9663	10	0.36615	T	0.2	-6.1513	1.3302	0.02133	0.1331:0.2234:0.1384:0.5052	.	419	O60279	SUSD5_HUMAN	R	419	ENSP00000308727:K419R	ENSP00000308727:K419R	K	-	2	0	SUSD5	33169872	0.000000	0.05858	0.000000	0.03702	0.075000	0.17131	0.353000	0.20130	-0.271000	0.09272	0.528000	0.53228	AAG		0.517	SUSD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341902.1	XM_171054	
EFCAB12	90288	broad.mit.edu	37	3	129140636	129140636	+	Silent	SNP	C	C	T	rs186654388	byFrequency	TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr3:129140636C>T	ENST00000505956.1	-	2	222	c.60G>A	c.(58-60)ccG>ccA	p.P20P	EFCAB12_ENST00000326085.3_Silent_p.P20P	NM_207307.1	NP_997190.1	Q6NXP0	EFC12_HUMAN	EF-hand calcium binding domain 12	20							calcium ion binding (GO:0005509)										GAGTCTTAGACGGGCAGAGTC	0.512													C|||	15	0.00299521	0.0	0.0029	5008	,	,		18940	0.0		0.0	False		,,,				2504	0.0133					uc003emg.2																			0											c.(58-60)CCG>CCA		hypothetical protein LOC90288							28.0	27.0	27.0					3																	129140636		1880	4112	5992	SO:0001819	synonymous_variant	0							g.chr3:129140636C>T	AK096099	CCDS54638.1	3q21.3	2013-01-10	2012-07-20	2012-07-20	ENSG00000172771	ENSG00000172771		"""EF-hand domain containing"""	28061	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 25"""	C3orf25			Standard	NM_207307		Approved		uc003emg.3	Q6NXP0	OTTHUMG00000159464	ENST00000505956.1:c.60G>A	3.37:g.129140636C>T							p.P20P	NM_207307	NP_997190					2	223	-								Q69YX4	Silent	SNP	ENST00000505956.1	37	c.60G>A	CCDS54638.1																																																																																				0.512	EFCAB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355530.1	NM_207307	
ARHGEF26	26084	broad.mit.edu	37	3	153867229	153867229	+	Missense_Mutation	SNP	C	C	G			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr3:153867229C>G	ENST00000356448.4	+	5	1605	c.1321C>G	c.(1321-1323)Caa>Gaa	p.Q441E	ARHGEF26_ENST00000465817.1_Intron|ARHGEF26_ENST00000465093.1_Missense_Mutation_p.Q441E	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 26	441	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				endothelial cell morphogenesis (GO:0001886)|ruffle assembly (GO:0097178)	cell projection (GO:0042995)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						AAGAAAGAGACAAGAGGTATG	0.393																																					GBM(163;191 2003 24758 29593 48540)|Ovarian(152;631 1885 20165 22910 51013)	uc011bog.1																			0				large_intestine(1)	1						c.(1321-1323)CAA>GAA		Src homology 3 domain-containing guanine							67.0	68.0	68.0					3																	153867229		1891	4115	6006	SO:0001583	missense	26084				regulation of Rho protein signal transduction	intracellular|ruffle	Rho guanyl-nucleotide exchange factor activity	g.chr3:153867229C>G	BC016628	CCDS46938.1, CCDS58858.1	3q25.2	2013-01-10			ENSG00000114790	ENSG00000114790		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	24490	protein-coding gene	gene with protein product	"""Src homology 3 domain-containing guanine nucleotide exchange factor"""					15133129, 12697679	Standard	NM_015595		Approved	DKFZP434D146, SGEF	uc021xgc.1	Q96DR7	OTTHUMG00000159098	ENST00000356448.4:c.1321C>G	3.37:g.153867229C>G	ENSP00000348828:p.Gln441Glu					SGEF_uc011boh.1_Missense_Mutation_p.Q441E	p.Q441E	NM_015595	NP_056410	Q96DR7	ARHGQ_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		5	1532	+			441			DH.		B3KVP8|E9PBD0|Q68CL1|Q6AZ96|Q6Q8Q8|Q96AW8|Q96DR6|Q9H9D7|Q9H9R2|Q9UFW5	Missense_Mutation	SNP	ENST00000356448.4	37	c.1321C>G	CCDS46938.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.118732	0.77323	.	.	ENSG00000114790	ENST00000356448;ENST00000465093	T;T	0.34472	1.36;1.36	4.46	4.46	0.54185	Dbl homology (DH) domain (3);	0.000000	0.85682	D	0.000000	T	0.62514	0.2434	M	0.80508	2.5	0.80722	D	1	D;D	0.64830	0.965;0.994	P;D	0.70716	0.829;0.97	T	0.69168	-0.5216	10	0.87932	D	0	-14.9008	17.263	0.87078	0.0:1.0:0.0:0.0	.	441;441	E9PBD0;Q96DR7	.;ARHGQ_HUMAN	E	441	ENSP00000348828:Q441E;ENSP00000423418:Q441E	ENSP00000348828:Q441E	Q	+	1	0	ARHGEF26	155349919	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	5.973000	0.70456	2.459000	0.83118	0.561000	0.74099	CAA		0.393	ARHGEF26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353287.3	NM_015595	
UGDH	7358	broad.mit.edu	37	4	39515752	39515753	+	Frame_Shift_Ins	INS	-	-	A			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr4:39515752_39515753insA	ENST00000316423.6	-	3	556_557	c.214_215insT	c.(214-216)tctfs	p.S72fs	UGDH_ENST00000506179.1_Frame_Shift_Ins_p.S72fs|UGDH_ENST00000501493.2_Frame_Shift_Ins_p.S72fs|UGDH_ENST00000507089.1_5'UTR|UGDH_ENST00000515398.1_5'UTR	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN	UDP-glucose 6-dehydrogenase	72					cellular glucuronidation (GO:0052695)|gastrulation with mouth forming second (GO:0001702)|glycosaminoglycan biosynthetic process (GO:0006024)|small molecule metabolic process (GO:0044281)|UDP-glucose metabolic process (GO:0006011)|UDP-glucuronate biosynthetic process (GO:0006065)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|NAD binding (GO:0051287)|UDP-glucose 6-dehydrogenase activity (GO:0003979)	p.S72fs*18(1)		breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27						AATATTGGTAGAAAAAAAAAGA	0.297																																						uc003guk.1																			1	Deletion - Frameshift(1)		large_intestine(1)	large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						c.(214-216)TCTfs		UDP-glucose dehydrogenase	NADH(DB00157)																																			SO:0001589	frameshift_variant	7358				glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity	g.chr4:39515752_39515753insA	AF061016	CCDS3455.1, CCDS54757.1, CCDS54758.1	4p14	2011-11-16	2010-04-28		ENSG00000109814	ENSG00000109814	1.1.1.22		12525	protein-coding gene	gene with protein product		603370	"""UDP-glucose dehydrogenase"""			9737970, 10575217	Standard	NM_003359		Approved		uc003guk.2	O60701	OTTHUMG00000099371	ENST00000316423.6:c.215dupT	4.37:g.39515761_39515761dupA	ENSP00000319501:p.Ser72fs					UGDH_uc011byp.1_5'UTR|UGDH_uc003gul.1_Frame_Shift_Ins_p.S72fs	p.S72fs	NM_003359	NP_003350	O60701	UGDH_HUMAN			3	530_531	-			72					B3KUU2|B4DN25|O60589	Frame_Shift_Ins	INS	ENST00000316423.6	37	c.214_215insT	CCDS3455.1																																																																																				0.297	UGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216818.3	NM_003359	
DCHS2	54798	broad.mit.edu	37	4	155219800	155219800	+	Missense_Mutation	SNP	C	C	G			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr4:155219800C>G	ENST00000357232.4	-	18	4300	c.4301G>C	c.(4300-4302)cGt>cCt	p.R1434P		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1434	Cadherin 12. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GTCCAAAGCACGAGTGGTTGA	0.393																																						uc003inw.2																			0				ovary(3)|pancreas(1)	4						c.(4300-4302)CGT>CCT		dachsous 2 isoform 1							88.0	92.0	90.0					4																	155219800		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155219800C>G	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.4301G>C	4.37:g.155219800C>G	ENSP00000349768:p.Arg1434Pro						p.R1434P	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	18	4301	-	all_hematologic(180;0.208)	Renal(120;0.0854)	1434			Cadherin 12.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.4301G>C	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	C	17.53	3.412849	0.62511	.	.	ENSG00000197410	ENST00000357232	T	0.54279	0.58	5.86	1.22	0.21188	Cadherin (4);Cadherin-like (1);	0.246394	0.35320	N	0.003287	T	0.69477	0.3115	M	0.89095	3.005	0.09310	N	1	D	0.64830	0.994	D	0.64776	0.929	T	0.60722	-0.7207	10	0.59425	D	0.04	.	7.2804	0.26308	0.0:0.5906:0.1051:0.3043	.	1434	Q6V1P9	PCD23_HUMAN	P	1434	ENSP00000349768:R1434P	ENSP00000349768:R1434P	R	-	2	0	DCHS2	155439250	0.041000	0.20044	0.042000	0.18584	0.999000	0.98932	0.617000	0.24359	-0.028000	0.13850	0.650000	0.86243	CGT		0.393	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552	
DCHS2	54798	broad.mit.edu	37	4	155242236	155242236	+	Silent	SNP	A	A	G			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr4:155242236A>G	ENST00000357232.4	-	14	2949	c.2950T>C	c.(2950-2952)Tta>Cta	p.L984L		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	984	Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CTAAAATGTAACTTTCCATTA	0.328																																						uc003inw.2																			0				ovary(3)|pancreas(1)	4						c.(2950-2952)TTA>CTA		dachsous 2 isoform 1							77.0	79.0	78.0					4																	155242236		2203	4300	6503	SO:0001819	synonymous_variant	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155242236A>G	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.2950T>C	4.37:g.155242236A>G							p.L984L	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	14	2950	-	all_hematologic(180;0.208)	Renal(120;0.0854)	984			Cadherin 8.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	ENST00000357232.4	37	c.2950T>C	CCDS3785.1																																																																																				0.328	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552	
MROH2B	133558	broad.mit.edu	37	5	41058241	41058241	+	Missense_Mutation	SNP	C	C	T			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr5:41058241C>T	ENST00000399564.4	-	7	1130	c.680G>A	c.(679-681)cGt>cAt	p.R227H	MROH2B_ENST00000506092.2_De_novo_Start_OutOfFrame	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	227																	GGCGTATCCACGGAAGTCTTC	0.517																																						uc003jmj.3																			0				ovary(6)|central_nervous_system(2)	8						c.(679-681)CGT>CAT		HEAT repeat family member 7B2							76.0	74.0	75.0					5																	41058241		1921	4125	6046	SO:0001583	missense	133558						binding	g.chr5:41058241C>T		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.680G>A	5.37:g.41058241C>T	ENSP00000382476:p.Arg227His					HEATR7B2_uc003jmi.3_Translation_Start_Site	p.R227H	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN			7	1170	-			227					Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.680G>A	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	C	8.886	0.952879	0.18431	.	.	ENSG00000171495	ENST00000399564	T	0.08370	3.1	5.27	2.2	0.27929	Armadillo-type fold (1);	0.679311	0.13950	N	0.351566	T	0.06462	0.0166	L	0.34521	1.04	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31166	-0.9953	10	0.49607	T	0.09	.	5.6	0.17349	0.0:0.6298:0.0:0.3702	.	227	Q7Z745	HTRB2_HUMAN	H	227	ENSP00000382476:R227H	ENSP00000382476:R227H	R	-	2	0	HEATR7B2	41093998	0.002000	0.14202	0.450000	0.26969	0.052000	0.14988	0.514000	0.22786	0.729000	0.32403	0.650000	0.86243	CGT		0.517	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489	
MAST4	375449	broad.mit.edu	37	5	66460510	66460510	+	Missense_Mutation	SNP	G	G	A			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr5:66460510G>A	ENST00000403625.2	+	29	5798	c.5503G>A	c.(5503-5505)Gtg>Atg	p.V1835M	MAST4_ENST00000405643.1_Missense_Mutation_p.V1656M|MAST4_ENST00000404260.3_Missense_Mutation_p.V1838M|MAST4_ENST00000261569.7_Missense_Mutation_p.V1641M|MAST4_ENST00000403666.1_Missense_Mutation_p.V1646M	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1838						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		AAGTGGTGACGTGAGGGCCTC	0.562																																						uc003jut.1																			0				lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1)	13						c.(4936-4938)GTG>ATG		microtubule associated serine/threonine kinase							60.0	66.0	64.0					5																	66460510		1986	4150	6136	SO:0001583	missense	375449					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:66460510G>A	AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.5503G>A	5.37:g.66460510G>A	ENSP00000385727:p.Val1835Met					MAST4_uc003juw.2_Missense_Mutation_p.V1574M|MAST4_uc003jux.2_5'Flank	p.V1646M	NM_015183	NP_055998	O15021	MAST4_HUMAN		Lung(70;0.011)	28	5004	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	1838					A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	ENST00000403625.2	37	c.4936G>A	CCDS54861.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.659|2.659	-0.280196|-0.280196	0.05642|0.05642	.|.	.|.	ENSG00000069020|ENSG00000069020	ENST00000443808|ENST00000404260;ENST00000403625;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569	.|T;T;T;T;T	.|0.65364	.|-0.13;-0.13;-0.15;-0.15;-0.13	5.01|5.01	-6.93|-6.93	0.01638|0.01638	.|.	.|0.873887	.|0.09833	.|N	.|0.749936	T|T	0.43875|0.43875	0.1267|0.1267	L|L	0.32530|0.32530	0.975|0.975	0.09310|0.09310	N|N	1|1	.|B;B	.|0.18968	.|0.008;0.032	.|B;B	.|0.13407	.|0.004;0.009	T|T	0.28870|0.28870	-1.0030|-1.0030	5|10	.|0.51188	.|T	.|0.08	-0.0334|-0.0334	8.9282|8.9282	0.35655|0.35655	0.5486:0.1822:0.2693:0.0|0.5486:0.1822:0.2693:0.0	.|.	.|1838;1646	.|O15021;O15021-3	.|MAST4_HUMAN;.	H|M	891|1838;1835;1646;1656;1656;1641	.|ENSP00000385048:V1838M;ENSP00000385727:V1835M;ENSP00000384313:V1646M;ENSP00000384099:V1656M;ENSP00000261569:V1641M	.|ENSP00000261569:V1641M	R|V	+|+	2|1	0|0	MAST4|MAST4	66496266|66496266	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.003000|0.003000	0.03518|0.03518	-0.886000|-0.886000	0.04157|0.04157	-1.606000|-1.606000	0.01591|0.01591	-0.251000|-0.251000	0.11542|0.11542	CGT|GTG		0.562	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2		
TRPC7	57113	broad.mit.edu	37	5	135692416	135692416	+	Silent	SNP	G	G	A			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr5:135692416G>A	ENST00000513104.1	-	2	942	c.660C>T	c.(658-660)aaC>aaT	p.N220N	TRPC7_ENST00000426057.2_Silent_p.N220N|TRPC7_ENST00000355180.3_Silent_p.N220N	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	220					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.N220N(2)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTTTGTAGGCGTTCATGCGCG	0.607																																						uc003lbn.1																			2	Substitution - coding silent(2)		NS(2)		0						c.(655-657)AAC>AAT		transient receptor potential cation channel,							50.0	57.0	55.0					5																	135692416		2143	4255	6398	SO:0001819	synonymous_variant	57113				axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding	g.chr5:135692416G>A	AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.660C>T	5.37:g.135692416G>A						TRPC7_uc010jef.1_Silent_p.N211N|TRPC7_uc010jeg.1_RNA|TRPC7_uc010jeh.1_Silent_p.N211N|TRPC7_uc010jei.1_Silent_p.N211N|TRPC7_uc010jej.1_Translation_Start_Site	p.N219N	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		1	660	-			220			Cytoplasmic (Potential).		A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Silent	SNP	ENST00000513104.1	37	c.657C>T	CCDS47267.2	.	.	.	.	.	.	.	.	.	.	G	8.513	0.866919	0.17250	.	.	ENSG00000069018	ENST00000352189;ENST00000378459;ENST00000502753	.	.	.	5.26	-9.63	0.00544	.	.	.	.	.	T	0.60919	0.2306	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70842	-0.4762	4	.	.	.	-22.007	15.4967	0.75658	0.434:0.0:0.566:0.0	.	.	.	.	C	220	.	.	R	-	1	0	TRPC7	135720315	0.372000	0.25064	0.657000	0.29651	0.994000	0.84299	-0.116000	0.10724	-2.153000	0.00793	-0.157000	0.13467	CGC		0.607	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366975.1	NM_020389	
LRRTM2	26045	broad.mit.edu	37	5	138209080	138209081	+	Frame_Shift_Ins	INS	-	-	T	rs555273836	byFrequency	TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr5:138209080_138209081insT	ENST00000274711.6	-	2	1547_1548	c.1169_1170insA	c.(1168-1170)tacfs	p.Y390fs	CTNNA1_ENST00000540387.1_5'Flank|LRRTM2_ENST00000523537.1_5'Flank|CTNNA1_ENST00000520400.1_Intron|CTNNA1_ENST00000355078.5_Intron|LRRTM2_ENST00000518785.1_3'UTR|CTNNA1_ENST00000302763.7_Intron|CTNNA1_ENST00000518825.1_Intron|LRRTM2_ENST00000521094.2_Intron	NM_015564.2	NP_056379.1	O43300	LRRT2_HUMAN	leucine rich repeat transmembrane neuronal 2	390					long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|synapse organization (GO:0050808)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|urinary_tract(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CTCCCACATGGTAACTTGATGA	0.431																																						uc011cyz.1																			0					0						c.(1168-1170)TACfs		leucine rich repeat transmembrane neuronal 2																																				SO:0001589	frameshift_variant	26045					cell junction|integral to membrane|postsynaptic membrane		g.chr5:138209080_138209081insT	AB007876	CCDS47272.1	5q31	2008-02-05				ENSG00000146006			19409	protein-coding gene	gene with protein product		610868				12676565	Standard	NM_015564		Approved	KIAA0416	uc011cyz.1	O43300		ENST00000274711.6:c.1170dupA	5.37:g.138209081_138209081dupT	ENSP00000274711:p.Tyr390fs					CTNNA1_uc003ldh.2_Intron|CTNNA1_uc011cyx.1_Intron|CTNNA1_uc011cyy.1_Intron|CTNNA1_uc003ldi.2_Intron|CTNNA1_uc003ldj.2_Intron|LRRTM2_uc010jez.2_Intron|LRRTM2_uc011cza.1_Frame_Shift_Ins_p.Y256fs|CTNNA1_uc003ldl.2_5'Flank	p.Y390fs	NM_015564	NP_056379	O43300	LRRT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		2	1626_1627	-			390			Extracellular (Potential).		A0AVL3|A8K4U9|B7ZLN8|Q7L770	Frame_Shift_Ins	INS	ENST00000274711.6	37	c.1169_1170insA	CCDS47272.1																																																																																				0.431	LRRTM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374043.2		
PCDHA9	9752	broad.mit.edu	37	5	140229393	140229393	+	Missense_Mutation	SNP	C	C	T			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr5:140229393C>T	ENST00000532602.1	+	1	2346	c.1313C>T	c.(1312-1314)aCg>aTg	p.T438M	PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000378122.3_Missense_Mutation_p.T438M|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	438	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGTGGGCCACGGCCAGGGTG	0.657																																					Melanoma(55;1800 1972 14909)	uc003lhu.2																			0				large_intestine(2)|ovary(2)|skin(1)	5						c.(1312-1314)ACG>ATG		protocadherin alpha 9 isoform 1 precursor							82.0	79.0	80.0					5																	140229393		2196	4268	6464	SO:0001583	missense	9752				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140229393C>T	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.1313C>T	5.37:g.140229393C>T	ENSP00000436042:p.Thr438Met					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_uc003lht.1_Missense_Mutation_p.T438M	p.T438M	NM_031857	NP_114063	Q9Y5H5	PCDA9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2037	+			438			Cadherin 4.|Extracellular (Potential).		O15053|Q2M3S5	Missense_Mutation	SNP	ENST00000532602.1	37	c.1313C>T	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	c	10.42	1.345758	0.24426	.	.	ENSG00000204961	ENST00000532602;ENST00000378122	T;T	0.57107	0.42;0.42	3.56	1.69	0.24217	Cadherin (5);Cadherin-like (1);	0.276328	0.17729	U	0.163964	T	0.72503	0.3468	M	0.90922	3.16	0.09310	N	1	D;D	0.89917	0.98;1.0	P;D	0.66196	0.475;0.942	T	0.62627	-0.6814	10	0.72032	D	0.01	.	8.1906	0.31366	0.0:0.617:0.2964:0.0866	.	438;438	Q9Y5H5;Q9Y5H5-2	PCDA9_HUMAN;.	M	438	ENSP00000436042:T438M;ENSP00000367362:T438M	ENSP00000367362:T438M	T	+	2	0	PCDHA9	140209577	0.000000	0.05858	0.131000	0.22000	0.108000	0.19459	0.226000	0.17776	0.279000	0.22186	-0.699000	0.03677	ACG		0.657	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857	
RUNX2	860	broad.mit.edu	37	6	45390685	45390685	+	Silent	SNP	G	G	A			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr6:45390685G>A	ENST00000371438.1	+	2	772	c.414G>A	c.(412-414)gtG>gtA	p.V138V	RUNX2_ENST00000465038.2_Silent_p.V138V|RUNX2_ENST00000371436.6_Silent_p.V138V|RUNX2_ENST00000371432.3_Silent_p.V124V|RUNX2_ENST00000359524.5_Silent_p.V124V|RUNX2_ENST00000541979.1_Silent_p.V206V|RP1-244F24.1_ENST00000606796.1_RNA|RUNX2_ENST00000352853.5_Silent_p.V206V|RUNX2_ENST00000576263.1_Silent_p.V138V	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	138	Runt. {ECO:0000255|PROSITE- ProRule:PRU00399}.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						CCCTGCCCGTGGCCTTCAAGG	0.721																																						uc011dvx.1																			0				ovary(2)|skin(1)	3						c.(412-414)GTG>GTA		runt-related transcription factor 2 isoform a							30.0	34.0	33.0					6																	45390685		2203	4299	6502	SO:0001819	synonymous_variant	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45390685G>A	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.414G>A	6.37:g.45390685G>A						RUNX2_uc011dvy.1_Silent_p.V138V|RUNX2_uc003oxt.2_Silent_p.V124V	p.V138V	NM_001024630	NP_001019801	Q13950	RUNX2_HUMAN			3	624	+			138			Runt.		O14614|O14615|O95181	Silent	SNP	ENST00000371438.1	37	c.414G>A	CCDS43467.2																																																																																				0.721	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348	
DBNL	28988	broad.mit.edu	37	7	44100419	44100419	+	Silent	SNP	G	G	T	rs539416356		TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr7:44100419G>T	ENST00000448521.1	+	13	1295	c.1197G>T	c.(1195-1197)acG>acT	p.T399T	DBNL_ENST00000494774.1_Silent_p.T400T|DBNL_ENST00000497184.1_3'UTR|DBNL_ENST00000440166.1_Silent_p.T296T|DBNL_ENST00000452943.1_Silent_p.T375T|DBNL_ENST00000468694.1_Silent_p.T408T|DBNL_ENST00000456905.1_Silent_p.T351T|DBNL_ENST00000490734.2_Silent_p.T305T	NM_001014436.2	NP_001014436.1	Q9UJU6	DBNL_HUMAN	drebrin-like	399	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|endocytosis (GO:0006897)|immune system process (GO:0002376)|neuron projection morphogenesis (GO:0048812)|podosome assembly (GO:0071800)|Rac protein signal transduction (GO:0016601)|synapse assembly (GO:0007416)	cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|podosome (GO:0002102)|postsynaptic density (GO:0014069)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|enzyme activator activity (GO:0008047)			breast(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|stomach(1)	12						ACCTCATCACGGGCATCGAGG	0.587																																					NSCLC(68;573 1327 18604 34760 37992)	uc003tjp.3																			0				skin(1)	1						c.(1195-1197)ACG>ACT		drebrin-like isoform b							126.0	104.0	112.0					7																	44100419		2203	4300	6503	SO:0001819	synonymous_variant	28988				activation of JUN kinase activity|cellular component disassembly involved in apoptosis|endocytosis|Rac protein signal transduction	cell cortex|cytoskeleton|cytosol|lamellipodium	actin binding|enzyme activator activity|identical protein binding	g.chr7:44100419G>T	AF151364	CCDS34622.1, CCDS34623.1, CCDS47579.1, CCDS64633.1, CCDS64634.1	7p13	2004-07-22			ENSG00000136279	ENSG00000136279			2696	protein-coding gene	gene with protein product		610106				10087302	Standard	NM_014063		Approved	SH3P7, HIP-55	uc003tjq.4	Q9UJU6	OTTHUMG00000155350	ENST00000448521.1:c.1197G>T	7.37:g.44100419G>T						DBNL_uc003tjo.3_Silent_p.T400T|DBNL_uc003tjr.3_Silent_p.T272T|DBNL_uc003tjq.3_Silent_p.T408T|DBNL_uc011kbm.1_Silent_p.T375T|DBNL_uc011kbn.1_Silent_p.T296T|DBNL_uc011kbo.1_Silent_p.T300T|DBNL_uc011kbp.1_Silent_p.T351T|DBNL_uc011kbq.1_Silent_p.T324T|DBNL_uc011kbr.1_Silent_p.T348T|DBNL_uc011kbs.1_Silent_p.T304T	p.T399T	NM_001014436	NP_001014436	Q9UJU6	DBNL_HUMAN			13	1295	+			399			SH3.		A4D2I9|B4DEM2|C9J7P1|P84070|Q6IAI8|Q96F30|Q96K74|Q9HBN8|Q9NR72	Silent	SNP	ENST00000448521.1	37	c.1197G>T	CCDS34623.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.693|8.693	0.907880|0.907880	0.17833|0.17833	.|.	.|.	ENSG00000136279|ENSG00000136279	ENST00000432854|ENST00000452661	.|.	.|.	.|.	5.4|5.4	-10.8|-10.8	0.00216|0.00216	.|.	.|.	.|.	.|.	.|.	T|T	0.46210|0.46210	0.1381|0.1381	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.59032|0.59032	-0.7530|-0.7530	4|4	.|.	.|.	.|.	-27.3457|-27.3457	8.8381|8.8381	0.35123|0.35123	0.645:0.1882:0.0985:0.0683|0.645:0.1882:0.0985:0.0683	.|.	.|.	.|.	.|.	W|L	328|107	.|.	.|.	G|R	+|+	1|2	0|0	DBNL|DBNL	44066944|44066944	0.000000|0.000000	0.05858|0.05858	0.190000|0.190000	0.23270|0.23270	0.953000|0.953000	0.61014|0.61014	-1.527000|-1.527000	0.02227|0.02227	-2.831000|-2.831000	0.00339|0.00339	-1.250000|-1.250000	0.01514|0.01514	GGG|CGG		0.587	DBNL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339572.2	NM_014063	
POM121L12	285877	broad.mit.edu	37	7	53103950	53103950	+	Silent	SNP	T	T	C			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr7:53103950T>C	ENST00000408890.4	+	1	602	c.586T>C	c.(586-588)Ttg>Ctg	p.L196L		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	196										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CGACGGGCCGTTGTGGTTCGA	0.677																																						uc003tpz.2																			0					0						c.(586-588)TTG>CTG		POM121 membrane glycoprotein-like 12							49.0	57.0	54.0					7																	53103950		1975	4148	6123	SO:0001819	synonymous_variant	285877							g.chr7:53103950T>C		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"""POM121 membrane glycoprotein-like 12"""				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.586T>C	7.37:g.53103950T>C							p.L196L	NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN			1	602	+			196					Q8NDI9	Silent	SNP	ENST00000408890.4	37	c.586T>C	CCDS43584.1																																																																																				0.677	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595	
EGFR	1956	broad.mit.edu	37	7	55233043	55233043	+	Missense_Mutation	SNP	G	G	T	rs139236063		TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr7:55233043G>T	ENST00000275493.2	+	15	1970	c.1793G>T	c.(1792-1794)gGa>gTa	p.G598V	EGFR_ENST00000442591.1_Missense_Mutation_p.G598V|EGFR_ENST00000455089.1_Missense_Mutation_p.G553V|EGFR_ENST00000342916.3_Missense_Mutation_p.G598V|EGFR_ENST00000344576.2_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	
ADAM22	53616	broad.mit.edu	37	7	87760639	87760639	+	Missense_Mutation	SNP	C	C	T	rs545692266		TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr7:87760639C>T	ENST00000265727.7	+	11	960	c.881C>T	c.(880-882)gCg>gTg	p.A294V	ADAM22_ENST00000398209.3_Missense_Mutation_p.A294V|ADAM22_ENST00000315984.7_Missense_Mutation_p.A294V|ADAM22_ENST00000398204.4_Missense_Mutation_p.A294V|ADAM22_ENST00000439864.1_Missense_Mutation_p.A294V|ADAM22_ENST00000398201.4_Missense_Mutation_p.A294V			Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	294	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell adhesion (GO:0007162)	integral component of membrane (GO:0016021)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			GAAACCTGGGCGACTGACAAC	0.358													C|||	1	0.000199681	0.0	0.0	5008	,	,		16360	0.001		0.0	False		,,,				2504	0.0					uc003ujn.2																			0				ovary(4)|skin(2)|lung(1)|kidney(1)	8						c.(880-882)GCG>GTG		ADAM metallopeptidase domain 22 isoform 1							104.0	98.0	100.0					7																	87760639		1843	4094	5937	SO:0001583	missense	53616				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding	g.chr7:87760639C>T	AB009671	CCDS43608.1, CCDS43609.1, CCDS43610.1, CCDS47637.1	7q21	2008-07-18	2005-08-18		ENSG00000008277	ENSG00000008277		"""ADAM metallopeptidase domain containing"""	201	protein-coding gene	gene with protein product	"""metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2"""	603709	"""a disintegrin and metalloproteinase domain 22"""			9693107, 10524237	Standard	NM_021723		Approved	MDC2	uc003ujn.3	Q9P0K1	OTTHUMG00000137417	ENST00000265727.7:c.881C>T	7.37:g.87760639C>T	ENSP00000265727:p.Ala294Val					ADAM22_uc003ujj.1_Missense_Mutation_p.A294V|ADAM22_uc003ujk.1_Missense_Mutation_p.A294V|ADAM22_uc003ujl.1_Missense_Mutation_p.A294V|ADAM22_uc003ujm.2_Missense_Mutation_p.A294V|ADAM22_uc003ujo.2_Missense_Mutation_p.A294V|ADAM22_uc003ujp.1_Missense_Mutation_p.A346V	p.A294V	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		11	960	+	Esophageal squamous(14;0.00202)		294			Peptidase M12B.|Extracellular (Potential).		O75075|O75076|Q9P0K2|Q9UIA1|Q9UKK2	Missense_Mutation	SNP	ENST00000265727.7	37	c.881C>T	CCDS47637.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.798210	0.90538	.	.	ENSG00000008277	ENST00000398204;ENST00000439864;ENST00000398201;ENST00000265727;ENST00000315984;ENST00000398209;ENST00000398203	T;T;T;T;T;T;T	0.17691	2.26;2.26;2.26;2.26;2.26;2.26;2.26	5.48	5.48	0.80851	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.053759	0.64402	D	0.000001	T	0.32164	0.0820	L	0.40543	1.245	0.58432	D	0.999997	P;P;P;D;D	0.71674	0.935;0.92;0.935;0.99;0.998	B;B;B;P;D	0.66196	0.334;0.176;0.334;0.513;0.942	T	0.00630	-1.1636	10	0.52906	T	0.07	.	16.0154	0.80434	0.0:0.8656:0.1344:0.0	.	346;294;294;294;294	E9PBH5;Q9P0K1-5;Q9P0K1;Q9P0K1-2;E7EPF1	.;.;ADA22_HUMAN;.;.	V	294;294;294;294;294;294;261	ENSP00000381262:A294V;ENSP00000391334:A294V;ENSP00000381260:A294V;ENSP00000265727:A294V;ENSP00000315900:A294V;ENSP00000381267:A294V;ENSP00000381261:A261V	ENSP00000265727:A294V	A	+	2	0	ADAM22	87598575	1.000000	0.71417	0.979000	0.43373	0.991000	0.79684	5.687000	0.68219	2.738000	0.93877	0.591000	0.81541	GCG		0.358	ADAM22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268370.2	NM_021723	
EPHB4	2050	broad.mit.edu	37	7	100404060	100404060	+	Nonsense_Mutation	SNP	C	C	T			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr7:100404060C>T	ENST00000358173.3	-	14	2934	c.2466G>A	c.(2464-2466)tgG>tgA	p.W822*	EPHB4_ENST00000360620.3_Nonsense_Mutation_p.W822*	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	822	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|ephrin receptor signaling pathway (GO:0048013)|heart morphogenesis (GO:0003007)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					TGCTCATGTCCCAGTACGGCC	0.562																																					GBM(200;2113 3072 25865 52728)	uc003uwn.1																			0				lung(4)|stomach(3)|skin(3)|central_nervous_system(2)|ovary(2)|breast(1)	15						c.(2464-2466)TGG>TGA		EPH receptor B4 precursor							186.0	142.0	157.0					7																	100404060		2203	4300	6503	SO:0001587	stop_gained	2050				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:100404060C>T	AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3395	protein-coding gene	gene with protein product		600011	"""EphB4"""	HTK		8188704	Standard	NM_004444		Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.2466G>A	7.37:g.100404060C>T	ENSP00000350896:p.Trp822*					EPHB4_uc003uwm.1_Nonsense_Mutation_p.W729*|EPHB4_uc010lhj.1_Nonsense_Mutation_p.W822*	p.W822*	NM_004444	NP_004435	P54760	EPHB4_HUMAN			14	2957	-	Lung NSC(181;0.041)|all_lung(186;0.0581)		822			Cytoplasmic (Potential).|Protein kinase.		B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Nonsense_Mutation	SNP	ENST00000358173.3	37	c.2466G>A	CCDS5706.1	.	.	.	.	.	.	.	.	.	.	C	43	9.992249	0.99313	.	.	ENSG00000196411	ENST00000360620;ENST00000358173	.	.	.	4.44	4.44	0.53790	.	0.000000	0.45361	D	0.000371	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.5502	0.68059	0.0:1.0:0.0:0.0	.	.	.	.	X	822	.	ENSP00000350896:W822X	W	-	3	0	EPHB4	100241996	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	7.818000	0.86416	2.021000	0.59480	0.455000	0.32223	TGG		0.562	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347222.1	NM_004444	
MUC17	140453	broad.mit.edu	37	7	100684307	100684308	+	In_Frame_Ins	INS	-	-	CTC			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr7:100684307_100684308insCTC	ENST00000306151.4	+	3	9674_9675	c.9610_9611insCTC	c.(9610-9612)tct>tCTCct	p.3204_3205insP		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3204	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AGCCACTTCATCTACAACTGCT	0.5																																						uc003uxp.1																			0				ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(9610-9612)TCT>TCTCCT		mucin 17 precursor																																				SO:0001652	inframe_insertion	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100684307_100684308insCTC	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	Exception_encountered	7.37:g.100684307_100684308insCTC	ENSP00000302716:p.Ser3204_Thr3205insPro					MUC17_uc010lho.1_RNA	p.3204_3205insP	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	9663_9664	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3204_3205			Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|52.		O14761|Q685J2|Q8TDH7	In_Frame_Ins	INS	ENST00000306151.4	37	c.9610_9611insCTC	CCDS34711.1																																																																																				0.500	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105	
TAF2	6873	broad.mit.edu	37	8	120774701	120774701	+	Missense_Mutation	SNP	T	T	G			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr8:120774701T>G	ENST00000378164.2	-	19	2810	c.2512A>C	c.(2512-2514)Aat>Cat	p.N838H	TAF2_ENST00000519355.1_5'UTR	NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	838					G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to organic cyclic compound (GO:0014070)|transcription initiation from RNA polymerase II promoter (GO:0006367)	transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	metallopeptidase activity (GO:0008237)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TTTTCCATATTCAAAAATCTG	0.333																																						uc003you.2																			0				large_intestine(2)|ovary(2)|kidney(1)|skin(1)	6						c.(2512-2514)AAT>CAT		TBP-associated factor 2							68.0	69.0	69.0					8																	120774701		2203	4300	6503	SO:0001583	missense	6873				G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr8:120774701T>G	AF040701	CCDS34937.1	8q24	2012-07-18	2002-08-29	2001-12-07	ENSG00000064313	ENSG00000064313			11536	protein-coding gene	gene with protein product		604912	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, B, 150kD"""	TAF2B		9774672, 9418870	Standard	NM_003184		Approved	TAFII150, CIF150	uc003you.3	Q6P1X5	OTTHUMG00000165009	ENST00000378164.2:c.2512A>C	8.37:g.120774701T>G	ENSP00000367406:p.Asn838His						p.N838H	NM_003184	NP_003175	Q6P1X5	TAF2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		19	2782	-	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		838					B2RE82|O43487|O43604|O60668|Q86WW7|Q8IWK4	Missense_Mutation	SNP	ENST00000378164.2	37	c.2512A>C	CCDS34937.1	.	.	.	.	.	.	.	.	.	.	T	15.99	2.996588	0.54147	.	.	ENSG00000064313	ENST00000378164	T	0.46819	0.86	5.86	4.69	0.59074	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.67468	0.2896	M	0.79258	2.445	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	T	0.70230	-0.4929	10	0.62326	D	0.03	-32.3965	12.3646	0.55222	0.1265:0.0:0.0:0.8735	.	838	Q6P1X5	TAF2_HUMAN	H	838	ENSP00000367406:N838H	ENSP00000367406:N838H	N	-	1	0	TAF2	120843882	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.018000	0.88722	1.021000	0.39600	0.477000	0.44152	AAT		0.333	TAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381436.1	NM_003184	
MROH5	389690	broad.mit.edu	37	8	142505515	142505515	+	RNA	SNP	T	T	C			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr8:142505515T>C	ENST00000430863.1	-	0	411					NM_207414.2	NP_997297.2	Q6ZUA9	MROH5_HUMAN	maestro heat-like repeat family member 5																		TTCTTGATCTTCTTGATGATG	0.527																																						uc003ywi.2																			0					0						c.(331-333)AAG>GAG		hypothetical protein LOC389690							131.0	130.0	130.0					8																	142505515		2109	4233	6342			389690						binding	g.chr8:142505515T>C			8q24.3	2012-12-20			ENSG00000226807	ENSG00000226807		"""maestro heat-like repeat containing"""	42976	protein-coding gene	gene with protein product							Standard	NM_207414		Approved	FLJ43860	uc003ywi.2	Q6ZUA9	OTTHUMG00000155944		8.37:g.142505515T>C						FLJ43860_uc011ljs.1_5'Flank|FLJ43860_uc010meu.1_5'Flank	p.K111E	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0493)		3	412	-	all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		111						Missense_Mutation	SNP	ENST00000430863.1	37	c.331A>G		.	.	.	.	.	.	.	.	.	.	T	12.68	2.011363	0.35511	.	.	ENSG00000226807	ENST00000521161	.	.	.	4.6	3.43	0.39272	.	.	.	.	.	T	0.35038	0.0918	N	0.24115	0.695	.	.	.	P	0.49961	0.93	P	0.49683	0.619	T	0.44847	-0.9301	7	0.51188	T	0.08	.	7.3004	0.26418	0.0:0.1045:0.0:0.8955	.	111	Q6ZUA9	.	E	76	.	ENSP00000431031:K111E	K	-	1	0	AC100803.1	142574697	1.000000	0.71417	0.400000	0.26346	0.238000	0.25445	3.712000	0.54875	0.695000	0.31675	-0.411000	0.06167	AAG		0.527	MROH5-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000342412.4	NM_207414	
PLEC	5339	broad.mit.edu	37	8	144993831	144993831	+	Silent	SNP	C	C	T	rs373820763		TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr8:144993831C>T	ENST00000322810.4	-	32	10738	c.10569G>A	c.(10567-10569)gcG>gcA	p.A3523A	PLEC_ENST00000436759.2_Silent_p.A3413A|PLEC_ENST00000357649.2_Silent_p.A3390A|PLEC_ENST00000356346.3_Silent_p.A3372A|PLEC_ENST00000398774.2_Silent_p.A3354A|PLEC_ENST00000354958.2_Silent_p.A3364A|PLEC_ENST00000345136.3_Silent_p.A3386A|PLEC_ENST00000527096.1_Silent_p.A3409A|PLEC_ENST00000354589.3_Silent_p.A3386A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3523	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCAGCAGGAGCGCAGCCGTTG	0.692																																						uc003zaf.1																			0				large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(10567-10569)GCG>GCA		plectin isoform 1		C	,,,,,,,	1,3805		0,1,1902	11.0	14.0	13.0		10239,10116,10092,10569,10062,10158,10170,10158	-9.7	0.0	8		13	6,7970		0,6,3982	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	,,,,,,,	0,7,5884	TT,TC,CC		0.0752,0.0263,0.0594	,,,,,,,	3413/4575,3372/4534,3364/4526,3523/4685,3354/4516,3386/4548,3390/4552,3386/4548	144993831	7,11775	1903	3988	5891	SO:0001819	synonymous_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:144993831C>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.10569G>A	8.37:g.144993831C>T						PLEC_uc003zab.1_Silent_p.A3386A|PLEC_uc003zac.1_Silent_p.A3390A|PLEC_uc003zad.2_Silent_p.A3386A|PLEC_uc003zae.1_Silent_p.A3354A|PLEC_uc003zag.1_Silent_p.A3364A|PLEC_uc003zah.2_Silent_p.A3372A|PLEC_uc003zaj.2_Silent_p.A3413A	p.A3523A	NM_201380	NP_958782	Q15149	PLEC_HUMAN			32	10739	-			3523			Plectin 13.|Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	c.10569G>A	CCDS43772.1																																																																																				0.692	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445	
FBXL6	26233	broad.mit.edu	37	8	145581939	145581939	+	Missense_Mutation	SNP	G	G	A			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr8:145581939G>A	ENST00000331890.5	-	1	233	c.169C>T	c.(169-171)Ccc>Tcc	p.P57S	FBXL6_ENST00000526524.1_5'Flank|SLC52A2_ENST00000540505.1_5'Flank|TMEM249_ENST00000531225.1_5'Flank|SLC52A2_ENST00000527078.1_5'Flank|SLC52A2_ENST00000402965.1_5'Flank|FBXL6_ENST00000455319.2_Missense_Mutation_p.P57S|SLC52A2_ENST00000530047.1_5'Flank|SLC52A2_ENST00000329994.2_5'Flank|SLC52A2_ENST00000532887.1_5'Flank|SLC52A2_ENST00000526752.1_5'Flank	NM_012162.2	NP_036294.2	Q8N531	FBXL6_HUMAN	F-box and leucine-rich repeat protein 6	57	F-box.				protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)		ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|lung(3)|ovary(1)	5	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			tgtgcgcggggccgggcgggg	0.791																																						uc003zcb.2																			0				ovary(1)|lung(1)	2						c.(169-171)CCC>TCC		F-box and leucine-rich repeat protein 6 isoform							2.0	2.0	2.0					8																	145581939		1102	2579	3681	SO:0001583	missense	26233				proteolysis		ubiquitin-protein ligase activity	g.chr8:145581939G>A	AF174592	CCDS6422.1, CCDS47942.1	8q24.3	2011-06-09			ENSG00000182325	ENSG00000182325		"""F-boxes / Leucine-rich repeats"""	13603	protein-coding gene	gene with protein product		609076				10531035, 10531037	Standard	NM_012162		Approved	FBL6	uc003zcb.3	Q8N531	OTTHUMG00000165169	ENST00000331890.5:c.169C>T	8.37:g.145581939G>A	ENSP00000330098:p.Pro57Ser					C8ORFK29_uc003zby.3_5'Flank|FBXL6_uc003zbz.2_5'Flank|FBXL6_uc003zca.2_Missense_Mutation_p.P57S|FBXL6_uc010mfx.2_5'UTR|GPR172A_uc003zcc.1_5'Flank|GPR172A_uc003zcd.1_5'Flank|GPR172A_uc003zce.1_5'Flank|GPR172A_uc010mfy.1_5'Flank|GPR172A_uc003zcf.1_5'Flank|GPR172A_uc011llc.1_5'Flank	p.P57S	NM_012162	NP_036294	Q8N531	FBXL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)		1	194	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		57			F-box.		Q53G43|Q9H5W9|Q9UKC7	Missense_Mutation	SNP	ENST00000331890.5	37	c.169C>T	CCDS6422.1	.	.	.	.	.	.	.	.	.	.	G	0.258	-1.001530	0.02128	.	.	ENSG00000182325	ENST00000455319;ENST00000331890	T;T	0.21734	1.99;2.0	3.39	-6.78	0.01721	.	1.296930	0.05904	U	0.630436	T	0.07908	0.0198	N	0.11255	0.115	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.20605	-1.0270	10	0.17369	T	0.5	-13.9506	2.7258	0.05213	0.1171:0.1859:0.4326:0.2644	.	57;57	Q8N531;Q8N531-2	FBXL6_HUMAN;.	S	57	ENSP00000403873:P57S;ENSP00000330098:P57S	ENSP00000330098:P57S	P	-	1	0	FBXL6	145552747	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.750000	0.04808	-3.483000	0.00154	-3.746000	0.00022	CCC		0.791	FBXL6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382413.1	NM_024555	
DMRT3	58524	broad.mit.edu	37	9	977245	977245	+	Missense_Mutation	SNP	A	A	G			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr9:977245A>G	ENST00000190165.2	+	1	282	c.244A>G	c.(244-246)Agc>Ggc	p.S82G		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	82					adult walking behavior (GO:0007628)|male sex differentiation (GO:0046661)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|sex differentiation (GO:0007548)|transcription, DNA-templated (GO:0006351)|transmission of nerve impulse (GO:0019226)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		GGCCAACGAGAGCTTGGAGAG	0.731																																						uc003zgw.1																			0				ovary(2)|central_nervous_system(1)	3						c.(244-246)AGC>GGC		doublesex and mab-3 related transcription factor							29.0	26.0	27.0					9																	977245		2198	4297	6495	SO:0001583	missense	58524				cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr9:977245A>G	AJ301581	CCDS6443.1	9p24.3	2008-07-21	2001-12-17	2001-12-07	ENSG00000064218	ENSG00000064218			13909	protein-coding gene	gene with protein product	"""testis-specific protein"""	614754	"""DMRT-like family A3"""	DMRTA3		11543627, 10729223	Standard	NM_021240		Approved		uc003zgw.2	Q9NQL9	OTTHUMG00000019436	ENST00000190165.2:c.244A>G	9.37:g.977245A>G	ENSP00000190165:p.Ser82Gly						p.S82G	NM_021240	NP_067063	Q9NQL9	DMRT3_HUMAN		Lung(218;0.0196)	1	282	+		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)	82					Q7LA03|Q7LCH8|Q96SC7|Q9NRQ9	Missense_Mutation	SNP	ENST00000190165.2	37	c.244A>G	CCDS6443.1	.	.	.	.	.	.	.	.	.	.	A	19.11	3.763287	0.69763	.	.	ENSG00000064218	ENST00000190165	T	0.24538	1.85	4.01	4.01	0.46588	.	0.186145	0.64402	D	0.000017	T	0.47783	0.1464	M	0.70275	2.135	0.58432	D	0.999999	D	0.63880	0.993	D	0.68192	0.956	T	0.51942	-0.8641	10	0.72032	D	0.01	-25.1335	12.9895	0.58610	1.0:0.0:0.0:0.0	.	82	Q9NQL9	DMRT3_HUMAN	G	82	ENSP00000190165:S82G	ENSP00000190165:S82G	S	+	1	0	DMRT3	967245	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.088000	0.71371	1.462000	0.47948	0.374000	0.22700	AGC		0.731	DMRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051490.1	NM_021240	
CACNA1B	774	broad.mit.edu	37	9	141014620	141014620	+	Missense_Mutation	SNP	G	G	A	rs200800510		TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr9:141014620G>A	ENST00000371372.1	+	45	6179	c.6034G>A	c.(6034-6036)Gtc>Atc	p.V2012I	CACNA1B_ENST00000277551.2_Missense_Mutation_p.V2012I|CACNA1B_ENST00000371355.4_Missense_Mutation_p.V2013I|CACNA1B_ENST00000371357.1_Missense_Mutation_p.V2011I|CACNA1B_ENST00000277549.5_Missense_Mutation_p.V1206I|CACNA1B_ENST00000371363.1_Missense_Mutation_p.V2010I	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	2012					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	CCCACAGCCCGTCACAGATGC	0.672																																						uc004cog.2																			0				breast(3)|large_intestine(2)|ovary(1)	6						c.(6034-6036)GTC>ATC		calcium channel, voltage-dependent, N type,	Amlodipine(DB00381)|Gabapentin(DB00996)	G	ILE/VAL	0,4322		0,0,2161	37.0	60.0	52.0		6034	1.3	0.0	9		52	1,8509		0,1,4254	no	missense	CACNA1B	NM_000718.3	29	0,1,6415	AA,AG,GG		0.0118,0.0,0.0078	benign	2012/2340	141014620	1,12831	2161	4255	6416	SO:0001583	missense	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:141014620G>A	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.6034G>A	9.37:g.141014620G>A	ENSP00000360423:p.Val2012Ile					CACNA1B_uc004coi.2_Missense_Mutation_p.V1224I	p.V2012I	NM_000718	NP_000709	Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	44	6179	+	all_cancers(76;0.166)		2012			Cytoplasmic (Potential).		B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	37	c.6034G>A	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	G	0.022	-1.406944	0.01155	0.0	1.18E-4	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355	T;T;T;T;T;T	0.71817	-0.6;-0.6;-0.6;-0.6;-0.6;-0.6	4.78	1.33	0.21861	.	1.379010	0.04758	N	0.425741	T	0.27027	0.0662	N	0.00138	-2.015	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.49899	-0.8890	10	0.02654	T	1	.	3.6495	0.08198	0.2499:0.5089:0.2413:0.0	.	2011;2010	B1AQK7;B1AQK6	.;.	I	2012;2012;1206;2010;2011;2013	ENSP00000360423:V2012I;ENSP00000277551:V2012I;ENSP00000277549:V1206I;ENSP00000360414:V2010I;ENSP00000360408:V2011I;ENSP00000360406:V2013I	ENSP00000277549:V1206I	V	+	1	0	CACNA1B	140134441	0.996000	0.38824	0.001000	0.08648	0.092000	0.18411	3.436000	0.52856	0.411000	0.25702	0.491000	0.48974	GTC		0.672	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718	
EFNB1	1947	broad.mit.edu	37	X	68058542	68058542	+	Missense_Mutation	SNP	C	C	G	rs367996552		TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chrX:68058542C>G	ENST00000204961.4	+	2	991	c.211C>G	c.(211-213)Cgg>Ggg	p.R71G		NM_004429.4	NP_004420.1	P98172	EFNB1_HUMAN	ephrin-B1	71	Ephrin RBD. {ECO:0000255|PROSITE- ProRule:PRU00884}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|embryonic pattern specification (GO:0009880)|ephrin receptor signaling pathway (GO:0048013)|neural crest cell migration (GO:0001755)|positive regulation of T cell proliferation (GO:0042102)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ephrin receptor binding (GO:0046875)	p.R71W(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	22						AGAAGCAGGGCGGCCCTATGA	0.572																																						uc004dxd.3																			1	Substitution - Missense(1)		large_intestine(1)		0						c.(211-213)CGG>GGG		ephrin-B1 precursor							58.0	45.0	50.0					X																	68058542		2203	4300	6503	SO:0001583	missense	1947				cell adhesion|cell-cell signaling	integral to plasma membrane|soluble fraction|synapse	ephrin receptor binding	g.chrX:68058542C>G	U09303	CCDS14391.1	Xq12	2011-03-09			ENSG00000090776	ENSG00000090776		"""Ephrins"""	3226	protein-coding gene	gene with protein product		300035	"""craniofrontonasal syndrome (craniofrontonasal dysplasia)"""	EPLG2, CFNS		7774950, 16526919	Standard	NM_004429		Approved	LERK2, Elk-L	uc004dxd.4	P98172	OTTHUMG00000021751	ENST00000204961.4:c.211C>G	X.37:g.68058542C>G	ENSP00000204961:p.Arg71Gly					EFNB1_uc004dxe.2_Missense_Mutation_p.R71G	p.R71G	NM_004429	NP_004420	P98172	EFNB1_HUMAN			2	991	+			71			Extracellular (Potential).		D3DVU0	Missense_Mutation	SNP	ENST00000204961.4	37	c.211C>G	CCDS14391.1	.	.	.	.	.	.	.	.	.	.	C	6.903	0.536173	0.13188	.	.	ENSG00000090776	ENST00000204961	D	0.92965	-3.14	5.03	1.06	0.20224	Cupredoxin (2);	0.449209	0.22871	N	0.054633	T	0.81578	0.4852	N	0.16790	0.44	0.40141	D	0.976838	B	0.21821	0.061	B	0.22753	0.041	T	0.68895	-0.5288	10	0.02654	T	1	-21.7179	12.4068	0.55445	0.565:0.435:0.0:0.0	.	71	P98172	EFNB1_HUMAN	G	71	ENSP00000204961:R71G	ENSP00000204961:R71G	R	+	1	2	EFNB1	67975267	0.902000	0.30710	0.995000	0.50966	0.944000	0.59088	0.385000	0.20685	-0.108000	0.12066	-0.763000	0.03452	CGG		0.572	EFNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057029.1	NM_004429	
