#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_ACHILLES_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	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
PADI3	51702	broad.mit.edu	37	1	17603314	17603314	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr1:17603314T>C	ENST00000375460.3	+	13	1538	c.1498T>C	c.(1498-1500)Ttc>Ctc	p.F500L	MIR3972_ENST00000582732.1_RNA	NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	500					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)	p.F500L(1)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	CTTCAAGCTCTTCCAGGAAAA	0.642																																							uc001bai.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(1498-1500)TTC>CTC		peptidyl arginine deiminase, type III	L-Citrulline(DB00155)						34.0	35.0	35.0					1																	17603314		2203	4300	6503	SO:0001583	missense	51702				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17603314T>C	AB026831	CCDS179.1	1p36.13	2008-02-05			ENSG00000142619	ENSG00000142619	3.5.3.15	"""Peptidyl arginine deiminases"""	18337	protein-coding gene	gene with protein product		606755				11069618	Standard	NM_016233		Approved	PDI3	uc001bai.3	Q9ULW8	OTTHUMG00000002373	ENST00000375460.3:c.1498T>C	1.37:g.17603314T>C	ENSP00000364609:p.Phe500Leu						p.F500L	NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	13	1538	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	500					Q58EY7|Q70SX5	Missense_Mutation	SNP	ENST00000375460.3	37	c.1498T>C	CCDS179.1	.	.	.	.	.	.	.	.	.	.	T	15.78	2.934873	0.52866	.	.	ENSG00000142619	ENST00000375460	T	0.18810	2.19	4.79	3.64	0.41730	Protein-arginine deiminase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.12008	0.0292	L	0.31294	0.92	0.37184	D	0.90361	B	0.02656	0.0	B	0.04013	0.001	T	0.16600	-1.0397	10	0.13108	T	0.6	-25.1598	5.621	0.17457	0.1533:0.0855:0.0:0.7612	.	500	Q9ULW8	PADI3_HUMAN	L	500	ENSP00000364609:F500L	ENSP00000364609:F500L	F	+	1	0	PADI3	17475901	0.999000	0.42202	1.000000	0.80357	0.996000	0.88848	2.183000	0.42565	0.768000	0.33290	0.454000	0.30748	TTC		0.642	PADI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006805.1			4	23	0	0	0	0.001168	0	4	23				
PADI4	23569	broad.mit.edu	37	1	17634768	17634768	+	Silent	SNP	C	C	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr1:17634768C>A	ENST00000375448.4	+	1	77	c.51C>A	c.(49-51)gcC>gcA	p.A17A	PADI4_ENST00000375453.1_Silent_p.A17A	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	17					cellular protein modification process (GO:0006464)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|histone citrullination (GO:0036414)|histone H3-R26 citrullination (GO:0036413)|innate immune response (GO:0045087)|nucleosome assembly (GO:0006334)|protein citrullination (GO:0018101)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	arginine deiminase activity (GO:0016990)|calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)	p.A17A(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	CCACCCATGCCGTGTGTGTGC	0.622																																							uc001baj.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(49-51)GCC>GCA		peptidyl arginine deiminase, type IV	L-Citrulline(DB00155)						82.0	75.0	77.0					1																	17634768		2203	4300	6503	SO:0001819	synonymous_variant	23569				chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity	g.chr1:17634768C>A	AB017919	CCDS180.1	1p36.13	2014-06-06	2003-02-12		ENSG00000159339	ENSG00000159339	3.5.3.15	"""Peptidyl arginine deiminases"""	18368	protein-coding gene	gene with protein product		605347	"""peptidyl arginine deiminase, type V"""	PADI5		10488123	Standard	NM_012387		Approved	PAD, PDI5, PDI4	uc001baj.2	Q9UM07	OTTHUMG00000002371	ENST00000375448.4:c.51C>A	1.37:g.17634768C>A						PADI4_uc009vpc.2_Silent_p.A17A	p.A17A	NM_012387	NP_036519	Q9UM07	PADI4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	1	79	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	17					A8K392|B2RBW0|Q5VTZ8|Q70SX4	Silent	SNP	ENST00000375448.4	37	c.51C>A	CCDS180.1																																																																																				0.622	PADI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006799.1	NM_012387		26	61	1	0	3.80469e-20	0.009535	5.66429e-20	26	61				
MYOM3	127294	broad.mit.edu	37	1	24434529	24434529	+	Missense_Mutation	SNP	C	C	T	rs199782500		TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr1:24434529C>T	ENST00000374434.3	-	3	358	c.196G>A	c.(196-198)Gcc>Acc	p.A66T	MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000329601.7_Missense_Mutation_p.A66T|MYOM3_ENST00000330966.7_Missense_Mutation_p.A67T	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	66						M band (GO:0031430)	protein homodimerization activity (GO:0042803)	p.A66T(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GCTGCCAGGGCGTAGTCCGCG	0.632																																							uc001bin.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(196-198)GCC>ACC		myomesin family, member 3		C	THR/ALA	0,4076		0,0,2038	48.0	54.0	52.0		196	4.3	1.0	1		52	1,8339		0,1,4169	no	missense	MYOM3	NM_152372.3	58	0,1,6207	TT,TC,CC		0.012,0.0,0.0081	possibly-damaging	66/1438	24434529	1,12415	2038	4170	6208	SO:0001583	missense	127294							g.chr1:24434529C>T	AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	26679	protein-coding gene	gene with protein product			"""myomesin family, member 3"""			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.196G>A	1.37:g.24434529C>T	ENSP00000363557:p.Ala66Thr					MYOM3_uc001bio.2_Missense_Mutation_p.A66T|MYOM3_uc001bip.1_5'UTR	p.A66T	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)	3	359	-		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)	66					A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Missense_Mutation	SNP	ENST00000374434.3	37	c.196G>A	CCDS41281.1	.	.	.	.	.	.	.	.	.	.	C	11.75	1.732573	0.30684	0.0	1.2E-4	ENSG00000142661	ENST00000374434;ENST00000330966;ENST00000329601	T;T;T	0.56941	0.49;0.58;0.43	5.29	4.3	0.51218	.	0.280082	0.25604	N	0.029535	T	0.27384	0.0672	N	0.14661	0.345	0.28362	N	0.920412	P;P	0.46912	0.593;0.886	B;B	0.35607	0.131;0.206	T	0.10894	-1.0610	10	0.17369	T	0.5	.	9.4842	0.38919	0.2646:0.7354:0.0:0.0	.	66;66	Q5VTT5-2;Q5VTT5	.;MYOM3_HUMAN	T	66;67;66	ENSP00000363557:A66T;ENSP00000332670:A67T;ENSP00000328415:A66T	ENSP00000328415:A66T	A	-	1	0	MYOM3	24307116	0.970000	0.33590	1.000000	0.80357	0.494000	0.33585	0.224000	0.17738	2.472000	0.83506	0.561000	0.74099	GCC		0.632	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008272.2	NM_152372		21	65	0	0	0	0.00632	0	21	65				
CATSPER4	378807	broad.mit.edu	37	1	26524847	26524847	+	Missense_Mutation	SNP	C	C	T	rs149779483	byFrequency	TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr1:26524847C>T	ENST00000456354.2	+	6	816	c.749C>T	c.(748-750)gCg>gTg	p.A250V		NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	250					calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sodium ion transport (GO:0006814)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)	p.A250V(1)		NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		ATACAGGTTGCGCTGTACACC	0.532																																							uc010oez.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(748-750)GCG>GTG		cation channel, sperm associated 4		C	VAL/ALA	2,4404	4.2+/-10.8	0,2,2201	186.0	183.0	184.0		749	4.6	0.9	1	dbSNP_134	184	0,8600		0,0,4300	no	missense	CATSPER4	NM_198137.1	64	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	250/473	26524847	2,13004	2203	4300	6503	SO:0001583	missense	378807				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity	g.chr1:26524847C>T	BN000273	CCDS30645.1	1p35.3	2011-07-05			ENSG00000188782	ENSG00000188782		"""Voltage-gated ion channels / Cation channels, sperm associated"""	23220	protein-coding gene	gene with protein product		609121				12932298, 17227845, 16382101	Standard	NM_198137		Approved		uc010oez.2	Q7RTX7	OTTHUMG00000003383	ENST00000456354.2:c.749C>T	1.37:g.26524847C>T	ENSP00000390423:p.Ala250Val					CATSPER4_uc010oey.1_Missense_Mutation_p.A72V|CATSPER4_uc009vsf.2_RNA	p.A250V	NM_198137	NP_937770	Q7RTX7	CTSR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)	6	749	+		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)	250					A1A4W6|Q5VY71	Missense_Mutation	SNP	ENST00000456354.2	37	c.749C>T	CCDS30645.1	.	.	.	.	.	.	.	.	.	.	C	15.35	2.806628	0.50421	4.54E-4	0.0	ENSG00000188782	ENST00000338855;ENST00000456354	D;D	0.98901	-5.22;-5.22	4.55	4.55	0.56014	Ion transport (1);	0.120464	0.37261	N	0.002172	D	0.99211	0.9726	M	0.90977	3.165	0.39828	D	0.972924	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.99698	1.1003	10	0.87932	D	0	-14.9758	13.1463	0.59463	0.0:1.0:0.0:0.0	.	250;234	Q7RTX7;Q7RTX7-2	CTSR4_HUMAN;.	V	250	ENSP00000341006:A250V;ENSP00000390423:A250V	ENSP00000341006:A250V	A	+	2	0	CATSPER4	26397434	0.998000	0.40836	0.920000	0.36463	0.046000	0.14306	4.476000	0.60216	2.231000	0.72958	0.467000	0.42956	GCG		0.532	CATSPER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019849.2	NM_198137		30	353	0	0	0	0.007291	0	30	353				
LHX8	431707	broad.mit.edu	37	1	75609600	75609600	+	Missense_Mutation	SNP	A	A	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr1:75609600A>T	ENST00000294638.5	+	7	1345	c.681A>T	c.(679-681)agA>agT	p.R227S	LHX8_ENST00000356261.3_Missense_Mutation_p.R217S	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	227					female gonad development (GO:0008585)|forebrain neuron development (GO:0021884)|learning or memory (GO:0007611)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	female germ cell nucleus (GO:0001674)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.R227S(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						CAGCAAAAAGAGCTCGGACCA	0.403																																							uc001dgo.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(679-681)AGA>AGT		LIM homeobox 8							108.0	104.0	105.0					1																	75609600		2203	4300	6503	SO:0001583	missense	431707					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:75609600A>T	AB050476	CCDS30756.1, CCDS58008.1	1p31.1	2011-06-20			ENSG00000162624	ENSG00000162624		"""Homeoboxes / LIM class"""	28838	protein-coding gene	gene with protein product		604425				9598319	Standard	NM_001256114		Approved	Lhx7	uc031pmx.1	Q68G74	OTTHUMG00000009692	ENST00000294638.5:c.681A>T	1.37:g.75609600A>T	ENSP00000294638:p.Arg227Ser					LHX8_uc001dgq.2_Missense_Mutation_p.R166S	p.R227S	NM_001001933	NP_001001933	Q68G74	LHX8_HUMAN			7	1345	+			227			Homeobox.		E9PGE3	Missense_Mutation	SNP	ENST00000294638.5	37	c.681A>T	CCDS30756.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.263314	0.80358	.	.	ENSG00000162624	ENST00000294638;ENST00000356261	D;D	0.96940	-4.18;-4.18	5.63	3.29	0.37713	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.98121	0.9380	H	0.95780	3.72	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98208	1.0471	10	0.87932	D	0	.	8.9917	0.36028	0.7908:0.0:0.2092:0.0	.	227	Q68G74	LHX8_HUMAN	S	227;217	ENSP00000294638:R227S;ENSP00000348597:R217S	ENSP00000294638:R227S	R	+	3	2	LHX8	75382188	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.222000	0.58580	1.065000	0.40693	0.533000	0.62120	AGA		0.403	LHX8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026700.1	NM_001001933		6	78	0	0	0	0.006214	0	6	78				
HFM1	164045	broad.mit.edu	37	1	91816323	91816323	+	Silent	SNP	G	G	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr1:91816323G>T	ENST00000370425.3	-	18	2276	c.2178C>A	c.(2176-2178)atC>atA	p.I726I	HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000462405.1_Intron|HFM1_ENST00000370424.3_Silent_p.I405I	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	726					resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.I726I(1)		breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TCAAGGCTCTGATATAAAGCA	0.343																																							uc001doa.3		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(2176-2178)ATC>ATA		HFM1 protein							132.0	120.0	123.0					1																	91816323		1844	4090	5934	SO:0001819	synonymous_variant	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91816323G>T	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.2178C>A	1.37:g.91816323G>T						HFM1_uc009wdb.2_Intron|HFM1_uc010osu.1_Silent_p.I405I|HFM1_uc010osv.1_Silent_p.I410I	p.I726I	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	18	2278	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	726					B1B0B6|Q8N9Q0	Silent	SNP	ENST00000370425.3	37	c.2178C>A	CCDS30769.2																																																																																				0.343	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975		18	96	1	0	1.33834e-09	0.007413	1.70509e-09	18	96				
OR6N2	81442	broad.mit.edu	37	1	158747139	158747139	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr1:158747139C>A	ENST00000339258.1	-	1	286	c.287G>T	c.(286-288)gGa>gTa	p.G96V		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	96						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G96V(1)		endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					AAGGAGGCATCCTGCAAAAGA	0.458																																							uc010pir.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(286-288)GGA>GTA		olfactory receptor, family 6, subfamily N,							127.0	123.0	124.0					1																	158747139		2203	4300	6503	SO:0001583	missense	81442				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158747139C>A	BK004200	CCDS30906.1	1q23.1	2012-08-09			ENSG00000188340	ENSG00000188340		"""GPCR / Class A : Olfactory receptors"""	15035	protein-coding gene	gene with protein product							Standard	NM_001005278		Approved		uc010pir.2	Q8NGY6	OTTHUMG00000022775	ENST00000339258.1:c.287G>T	1.37:g.158747139C>A	ENSP00000344101:p.Gly96Val						p.G96V	NM_001005278	NP_001005278	Q8NGY6	OR6N2_HUMAN			1	287	-	all_hematologic(112;0.0378)		96			Extracellular (Potential).		Q6IFR2	Missense_Mutation	SNP	ENST00000339258.1	37	c.287G>T	CCDS30906.1	.	.	.	.	.	.	.	.	.	.	C	17.30	3.355733	0.61293	.	.	ENSG00000188340	ENST00000339258	T	0.09817	2.94	5.17	5.17	0.71159	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37857	N	0.001913	T	0.30978	0.0782	M	0.85945	2.785	0.53688	D	0.999978	D	0.89917	1.0	D	0.74674	0.984	T	0.11179	-1.0598	10	0.87932	D	0	-9.1046	17.5939	0.88005	0.0:1.0:0.0:0.0	.	96	Q8NGY6	OR6N2_HUMAN	V	96	ENSP00000344101:G96V	ENSP00000344101:G96V	G	-	2	0	OR6N2	157013763	0.000000	0.05858	0.995000	0.50966	0.979000	0.70002	0.281000	0.18810	2.686000	0.91538	0.650000	0.86243	GGA		0.458	OR6N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059068.1			63	141	1	0	9.68594e-22	0.01441	1.48368e-21	63	141				
HMCN1	83872	broad.mit.edu	37	1	186121913	186121913	+	Silent	SNP	G	G	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr1:186121913G>T	ENST00000271588.4	+	96	15157	c.14928G>T	c.(14926-14928)cgG>cgT	p.R4976R	HMCN1_ENST00000367492.2_Silent_p.R4976R	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4976	Nidogen G2 beta-barrel. {ECO:0000255|PROSITE-ProRule:PRU00348}.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.R4976R(1)|p.R4976>?(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATATTGCCCGGGGCTTGGATT	0.428																																							uc001grq.1		NA																	2	Complex(1)|Substitution - coding silent(1)		large_intestine(1)|lung(1)	ovary(22)|skin(1)	23						c.(14926-14928)CGG>CGT		hemicentin 1 precursor							209.0	190.0	196.0					1																	186121913		2203	4300	6503	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186121913G>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.14928G>T	1.37:g.186121913G>T						HMCN1_uc001grs.1_Silent_p.R545R	p.R4976R	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			96	15157	+			4976			Nidogen G2 beta-barrel.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.14928G>T	CCDS30956.1																																																																																				0.428	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		63	193	1	0	2.18329e-32	0.01441	3.63881e-32	63	193				
ADIPOR1	51094	broad.mit.edu	37	1	202912952	202912952	+	Missense_Mutation	SNP	T	T	G			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr1:202912952T>G	ENST00000340990.5	-	6	1037	c.739A>C	c.(739-741)Att>Ctt	p.I247L	ADIPOR1_ENST00000436244.1_Missense_Mutation_p.I247L|ADIPOR1_ENST00000367254.3_Missense_Mutation_p.H157P	NM_015999.4	NP_057083.2	Q96A54	ADR1_HUMAN	adiponectin receptor 1	247					adiponectin-activated signaling pathway (GO:0033211)|fatty acid oxidation (GO:0019395)|hormone-mediated signaling pathway (GO:0009755)|leptin-mediated signaling pathway (GO:0033210)|negative regulation of cell growth (GO:0030308)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of JAK-STAT cascade (GO:0046427)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|protein kinase binding (GO:0019901)|receptor activity (GO:0004872)	p.I247L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(75;0.141)			ATGGCAGAAATGCCCAGGACA	0.537																																							uc001gyq.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(739-741)ATT>CTT		adiponectin receptor 1							80.0	69.0	73.0					1																	202912952		2203	4300	6503	SO:0001583	missense	51094				fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane|plasma membrane	hormone binding|protein kinase binding|receptor activity	g.chr1:202912952T>G		CCDS1430.1	1q32.1	2012-08-22			ENSG00000159346	ENSG00000159346		"""GPCR / Unclassified : Adiponectin receptors"""	24040	protein-coding gene	gene with protein product		607945				12802337	Standard	XM_006711360		Approved	PAQR1, ACDCR1	uc001gyq.5	Q96A54	OTTHUMG00000041391	ENST00000340990.5:c.739A>C	1.37:g.202912952T>G	ENSP00000341785:p.Ile247Leu					ADIPOR1_uc010pqd.1_Missense_Mutation_p.I171L|ADIPOR1_uc001gyr.3_Missense_Mutation_p.I46L|ADIPOR1_uc001gys.3_Missense_Mutation_p.I247L	p.I247L	NM_015999	NP_057083	Q96A54	ADR1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.141)		6	1006	-			247			Helical; Name=4; (Potential).		B3KMB0|Q53HS7|Q53YY6|Q9Y360	Missense_Mutation	SNP	ENST00000340990.5	37	c.739A>C	CCDS1430.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.45|18.45	3.625936|3.625936	0.66901|0.66901	.|.	.|.	ENSG00000159346|ENSG00000159346	ENST00000367254|ENST00000340990;ENST00000436244;ENST00000417068	T|T;T;T	0.42131|0.28069	0.98|1.63;1.63;1.63	5.99|5.99	5.99|5.99	0.97316|0.97316	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.21062|0.21062	0.0507|0.0507	N|N	0.16266|0.16266	0.395|0.395	0.31801|0.31801	N|N	0.628393|0.628393	.|B	.|0.13594	.|0.008	.|B	.|0.20384	.|0.029	T|T	0.14615|0.14615	-1.0466|-1.0466	7|10	0.46703|0.18276	T|T	0.11|0.48	.|.	15.3183|15.3183	0.74099|0.74099	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|247	.|Q96A54	.|ADR1_HUMAN	P|L	157|247	ENSP00000356223:H157P|ENSP00000341785:I247L;ENSP00000395469:I247L;ENSP00000402178:I247L	ENSP00000356223:H157P|ENSP00000341785:I247L	H|I	-|-	2|1	0|0	ADIPOR1|ADIPOR1	201179575|201179575	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.246000|6.246000	0.72405|0.72405	2.291000|2.291000	0.77112|0.77112	0.533000|0.533000	0.62120|0.62120	CAT|ATT		0.537	ADIPOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099160.2	NM_015999		15	47	0	0	0	0.006122	0	15	47				
KCNH1	3756	broad.mit.edu	37	1	210970995	210970995	+	Silent	SNP	G	G	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr1:210970995G>T	ENST00000271751.4	-	9	1797	c.1770C>A	c.(1768-1770)ctC>ctA	p.L590L	KCNH1_ENST00000367007.4_Silent_p.L563L			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	590					myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)	p.L590L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		CCAGTGCCCGGAGGCAGCCAT	0.612																																							uc001hib.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.(1768-1770)CTC>CTA		potassium voltage-gated channel, subfamily H,							58.0	58.0	58.0					1																	210970995		2203	4300	6503	SO:0001819	synonymous_variant	3756				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity	g.chr1:210970995G>T	AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.1770C>A	1.37:g.210970995G>T						KCNH1_uc001hic.2_Silent_p.L563L	p.L590L	NM_172362	NP_758872	O95259	KCNH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)	9	1940	-			590			Cytoplasmic (Potential).|cNMP.		B1AQ26|O76035|Q14CL3	Silent	SNP	ENST00000271751.4	37	c.1770C>A	CCDS1496.1																																																																																				0.612	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1	NM_002238		20	39	1	0	1.5548e-18	0.005443	2.28901e-18	20	39				
RCOR3	55758	broad.mit.edu	37	1	211449715	211449715	+	Missense_Mutation	SNP	A	A	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr1:211449715A>T	ENST00000367005.4	+	4	438	c.297A>T	c.(295-297)caA>caT	p.Q99H	RCOR3_ENST00000452621.2_Missense_Mutation_p.Q157H|RCOR3_ENST00000419091.2_Missense_Mutation_p.Q157H|RCOR3_ENST00000367006.4_Missense_Mutation_p.Q157H	NM_018254.3	NP_060724.1	Q9P2K3	RCOR3_HUMAN	REST corepressor 3	99	SANT 1. {ECO:0000255|PROSITE- ProRule:PRU00624}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.Q99H(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)		TATTTGAACAAGCCTTTAGTT	0.378																																							uc001hig.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(295-297)CAA>CAT		REST corepressor 3 isoform d							175.0	171.0	172.0					1																	211449715		2203	4300	6503	SO:0001583	missense	55758				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr1:211449715A>T	AK001738	CCDS31016.1, CCDS44312.1, CCDS44313.1, CCDS44314.1	1q32.3	2008-02-05			ENSG00000117625	ENSG00000117625			25594	protein-coding gene	gene with protein product						10718198	Standard	NM_018254		Approved	FLJ10876	uc010psw.2	Q9P2K3	OTTHUMG00000036996	ENST00000367005.4:c.297A>T	1.37:g.211449715A>T	ENSP00000355972:p.Gln99His					RCOR3_uc010psv.1_RNA|RCOR3_uc001hie.2_Missense_Mutation_p.Q157H|RCOR3_uc010psw.1_Missense_Mutation_p.Q157H|RCOR3_uc001hif.2_Missense_Mutation_p.Q157H	p.Q99H	NM_018254	NP_060724	Q9P2K3	RCOR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)	4	466	+			99			SANT 1.		B3KYA2|B4DYY7|Q5VT47|Q7L9I5|Q8N5U3|Q9NV83	Missense_Mutation	SNP	ENST00000367005.4	37	c.297A>T	CCDS31016.1	.	.	.	.	.	.	.	.	.	.	A	19.26	3.792503	0.70452	.	.	ENSG00000117625	ENST00000533469;ENST00000367006;ENST00000452621;ENST00000419091;ENST00000367005	T;T;T;T;T	0.44881	0.91;0.91;0.91;1.54;1.54	5.02	3.89	0.44902	SANT domain, DNA binding (1);Homeodomain-like (1);SANT, eukarya (1);	0.000000	0.85682	D	0.000000	T	0.52533	0.1740	L	0.43923	1.385	0.58432	D	0.999998	D;D;P;D	0.89917	0.965;0.995;0.926;1.0	P;D;P;D	0.80764	0.804;0.95;0.827;0.994	T	0.45789	-0.9237	9	.	.	.	-4.7686	10.6984	0.45913	0.9238:0.0:0.0762:0.0	.	157;99;157;157	Q9P2K3-3;Q9P2K3;Q9P2K3-2;Q9P2K3-4	.;RCOR3_HUMAN;.;.	H	99;157;157;157;99	ENSP00000436838:Q99H;ENSP00000355973:Q157H;ENSP00000398558:Q157H;ENSP00000413929:Q157H;ENSP00000355972:Q99H	.	Q	+	3	2	RCOR3	209516338	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.286000	0.51724	0.859000	0.35456	0.397000	0.26171	CAA		0.378	RCOR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089821.1	NM_018254		69	215	0	0	0	0.01441	0	69	215				
USH2A	7399	broad.mit.edu	37	1	216246606	216246606	+	Missense_Mutation	SNP	C	C	A	rs111033409	byFrequency	TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr1:216246606C>A	ENST00000307340.3	-	28	5995	c.5609G>T	c.(5608-5610)cGg>cTg	p.R1870L	RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA|USH2A_ENST00000366943.2_Missense_Mutation_p.R1870L	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1870	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.R1870L(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GACAGCACCCCGTGTAAATTT	0.433										HNSCC(13;0.011)																													uc001hku.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(5608-5610)CGG>CTG		usherin isoform B							75.0	63.0	67.0					1																	216246606		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216246606C>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.5609G>T	1.37:g.216246606C>A	ENSP00000305941:p.Arg1870Leu	HNSCC(13;0.011)					p.R1870L	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	28	5996	-			1870			Laminin G-like 2.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.5609G>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	19.95	3.920930	0.73213	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.13778	2.56;2.56	5.93	1.97	0.26223	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Fibronectin, type III (2);Laminin G domain (2);	0.000000	0.39909	N	0.001232	T	0.14743	0.0356	M	0.72479	2.2	0.40079	D	0.976118	B	0.22414	0.069	B	0.25614	0.062	T	0.04481	-1.0948	10	0.49607	T	0.09	.	5.2214	0.15371	0.1319:0.5982:0.0:0.2699	.	1870	O75445	USH2A_HUMAN	L	1870	ENSP00000305941:R1870L;ENSP00000355910:R1870L	ENSP00000305941:R1870L	R	-	2	0	USH2A	214313229	0.906000	0.30813	0.991000	0.47740	0.999000	0.98932	0.220000	0.17660	0.110000	0.17919	0.655000	0.94253	CGG		0.433	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		16	46	1	0	0.000566183	0.00499	0.000604994	16	46				
ACTN2	88	broad.mit.edu	37	1	236891000	236891000	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr1:236891000T>A	ENST00000366578.4	+	6	725	c.559T>A	c.(559-561)Tgt>Agt	p.C187S	ACTN2_ENST00000542672.1_Missense_Mutation_p.C187S|ACTN2_ENST00000492634.1_3'UTR	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	187	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)	p.C187S(1)		endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			CCTTGGACTCTGTGCCCTCAT	0.547																																							uc001hyf.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(559-561)TGT>AGT		actinin, alpha 2							179.0	146.0	157.0					1																	236891000		2203	4300	6503	SO:0001583	missense	88				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	g.chr1:236891000T>A	BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"""EF-hand domain containing"""	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.559T>A	1.37:g.236891000T>A	ENSP00000355537:p.Cys187Ser					ACTN2_uc001hyg.2_5'UTR|ACTN2_uc009xgi.1_Missense_Mutation_p.C187S	p.C187S	NM_001103	NP_001094	P35609	ACTN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00168)		6	763	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	187			CH 2.|Actin-binding.		B1ANE4|B2RCS5|Q86TF4|Q86TI8	Missense_Mutation	SNP	ENST00000366578.4	37	c.559T>A	CCDS1613.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.357390	0.82243	.	.	ENSG00000077522	ENST00000542672;ENST00000366578	D;D	0.95853	-3.83;-3.83	5.2	5.2	0.72013	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.97826	0.9286	M	0.83312	2.635	0.80722	D	1	B;B	0.29301	0.241;0.032	P;B	0.55222	0.771;0.392	D	0.98258	1.0497	10	0.72032	D	0.01	.	15.0665	0.71999	0.0:0.0:0.0:1.0	.	187;187	B2RCS5;P35609	.;ACTN2_HUMAN	S	187	ENSP00000443495:C187S;ENSP00000355537:C187S	ENSP00000355537:C187S	C	+	1	0	ACTN2	234957623	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.022000	0.64078	1.952000	0.56665	0.379000	0.24179	TGT		0.547	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1	NM_001103		21	77	0	0	0	0.016522	0	21	77				
RYR2	6262	broad.mit.edu	37	1	237777623	237777623	+	Missense_Mutation	SNP	A	A	G			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr1:237777623A>G	ENST00000366574.2	+	37	5512	c.5195A>G	c.(5194-5196)gAg>gGg	p.E1732G	RYR2_ENST00000360064.6_Missense_Mutation_p.E1730G|RYR2_ENST00000542537.1_Missense_Mutation_p.E1716G	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1732	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.E1730G(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATGACGGAGGAGACGAAGAGC	0.552																																							uc001hyl.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(5194-5196)GAG>GGG		cardiac muscle ryanodine receptor							64.0	64.0	64.0					1																	237777623		2125	4237	6362	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237777623A>G	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.5195A>G	1.37:g.237777623A>G	ENSP00000355533:p.Glu1732Gly						p.E1732G	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		37	5315	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1732			Cytoplasmic (By similarity).|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.5195A>G	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.400755	0.83120	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.74315	-0.83;-0.83;-0.83	5.43	5.43	0.79202	.	0.000000	0.64402	D	0.000009	T	0.79100	0.4389	M	0.66939	2.045	0.80722	D	1	D	0.54601	0.967	P	0.50049	0.629	T	0.81282	-0.1003	10	0.54805	T	0.06	.	15.4979	0.75669	1.0:0.0:0.0:0.0	.	1732	Q92736	RYR2_HUMAN	G	1732;1730;1716	ENSP00000355533:E1732G;ENSP00000353174:E1730G;ENSP00000443798:E1716G	ENSP00000353174:E1730G	E	+	2	0	RYR2	235844246	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.287000	0.95975	2.073000	0.62155	0.528000	0.53228	GAG		0.552	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		6	55	0	0	0	0.001984	0	6	55				
RYR2	6262	broad.mit.edu	37	1	237880547	237880547	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr1:237880547G>T	ENST00000366574.2	+	72	10690	c.10373G>T	c.(10372-10374)cGg>cTg	p.R3458L	RYR2_ENST00000360064.6_Missense_Mutation_p.R3456L|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Missense_Mutation_p.R3442L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3458					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.R3456L(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AAAGGAGATCGGTATTCCATG	0.493																																							uc001hyl.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(10372-10374)CGG>CTG		cardiac muscle ryanodine receptor							89.0	92.0	91.0					1																	237880547		1913	4113	6026	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237880547G>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.10373G>T	1.37:g.237880547G>T	ENSP00000355533:p.Arg3458Leu					RYR2_uc010pxz.1_Missense_Mutation_p.R413L	p.R3458L	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		72	10493	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	3458					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.10373G>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	12.14	1.848609	0.32699	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.96913	-4.17;-4.13;-4.16	5.34	5.34	0.76211	.	0.000000	0.53938	D	0.000055	D	0.91925	0.7443	N	0.25485	0.75	0.80722	D	1	P	0.35507	0.506	B	0.28011	0.085	D	0.90507	0.4478	10	0.18710	T	0.47	-11.6096	19.4201	0.94719	0.0:0.0:1.0:0.0	.	3458	Q92736	RYR2_HUMAN	L	3458;3456;3442;413	ENSP00000355533:R3458L;ENSP00000353174:R3456L;ENSP00000443798:R3442L	ENSP00000353174:R3456L	R	+	2	0	RYR2	235947170	0.891000	0.30450	0.992000	0.48379	0.984000	0.73092	4.504000	0.60414	2.667000	0.90743	0.655000	0.94253	CGG		0.493	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		10	31	1	0	1.08611e-07	0.010729	1.32635e-07	10	31				
RGS7	6000	broad.mit.edu	37	1	240979707	240979707	+	Silent	SNP	A	A	G			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr1:240979707A>G	ENST00000407727.1	-	10	692	c.693T>C	c.(691-693)taT>taC	p.Y231Y	RGS7_ENST00000366562.4_Silent_p.Y231Y|RGS7_ENST00000366564.1_Silent_p.Y231Y|RGS7_ENST00000331110.7_Silent_p.Y205Y|RGS7_ENST00000348120.2_Silent_p.Y178Y|RGS7_ENST00000401882.1_Silent_p.Y178Y|RGS7_ENST00000366565.1_Silent_p.Y231Y|RGS7_ENST00000446183.2_Silent_p.Y147Y|RGS7_ENST00000366563.1_Silent_p.Y231Y			P49802	RGS7_HUMAN	regulator of G-protein signaling 7	231					G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)	p.Y231Y(2)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TTTGTAAACCATAGACAGACt	0.338																																							uc001hyv.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(4)|skin(2)|kidney(1)	7						c.(691-693)TAT>TAC		regulator of G-protein signaling 7							202.0	187.0	192.0					1																	240979707		2203	4300	6503	SO:0001819	synonymous_variant	6000				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	g.chr1:240979707A>G	BC022009	CCDS31071.1, CCDS60457.1, CCDS60458.1, CCDS60459.1	1q43	2008-02-05	2007-08-14		ENSG00000182901	ENSG00000182901		"""Regulators of G-protein signaling"""	10003	protein-coding gene	gene with protein product		602517	"""regulator of G-protein signalling 7"""			8548815	Standard	XM_005273218		Approved		uc001hyv.2	P49802	OTTHUMG00000040107	ENST00000407727.1:c.693T>C	1.37:g.240979707A>G						RGS7_uc010pyh.1_Silent_p.Y205Y|RGS7_uc010pyj.1_Silent_p.Y147Y|RGS7_uc001hyu.2_Silent_p.Y231Y|RGS7_uc009xgn.1_Silent_p.Y178Y|RGS7_uc001hyw.2_Silent_p.Y231Y|RGS7_uc001hyt.2_Silent_p.Y63Y	p.Y231Y	NM_002924	NP_002915	P49802	RGS7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.027)		11	1023	-		all_cancers(173;0.0131)	231					Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	Silent	SNP	ENST00000407727.1	37	c.693T>C																																																																																					0.338	RGS7-204	KNOWN	basic	protein_coding	protein_coding		NM_002924		82	200	0	0	0	0.01441	0	82	200				
OR2L2	26246	broad.mit.edu	37	1	248201977	248201977	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr1:248201977C>A	ENST00000366479.2	+	1	504	c.408C>A	c.(406-408)agC>agA	p.S136R	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	136						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S136R(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TCCGTATAAGCAAAAGAGTGT	0.433																																							uc001idw.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(406-408)AGC>AGA		olfactory receptor, family 2, subfamily L,							183.0	162.0	169.0					1																	248201977		2203	4300	6503	SO:0001583	missense	26246				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248201977C>A	X64978	CCDS31103.1	1q44	2012-08-09			ENSG00000203663	ENSG00000203663		"""GPCR / Class A : Olfactory receptors"""	8266	protein-coding gene	gene with protein product				OR2L4P, OR2L12		1370859	Standard	NM_001004686		Approved	HTPCRH07, HSHTPCRH07	uc001idw.3	Q8NH16	OTTHUMG00000040214	ENST00000366479.2:c.408C>A	1.37:g.248201977C>A	ENSP00000355435:p.Ser136Arg					OR2L13_uc001ids.2_Intron	p.S136R	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		1	504	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		136			Cytoplasmic (Potential).		Q2M3T5	Missense_Mutation	SNP	ENST00000366479.2	37	c.408C>A	CCDS31103.1	.	.	.	.	.	.	.	.	.	.	.	6.966	0.548134	0.13312	.	.	ENSG00000203663	ENST00000366479	T	0.01246	5.11	1.9	-2.26	0.06867	GPCR, rhodopsin-like superfamily (1);	0.206506	0.24139	U	0.041197	T	0.01353	0.0044	L	0.56124	1.755	0.09310	N	1	B	0.12013	0.005	B	0.18263	0.021	T	0.45775	-0.9238	10	0.56958	D	0.05	.	0.9312	0.01335	0.179:0.411:0.1761:0.2338	.	136	Q8NH16	OR2L2_HUMAN	R	136	ENSP00000355435:S136R	ENSP00000355435:S136R	S	+	3	2	OR2L2	246268600	0.000000	0.05858	0.006000	0.13384	0.040000	0.13550	-2.839000	0.00738	-0.510000	0.06523	0.194000	0.17425	AGC		0.433	OR2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096871.1	NM_001004686		82	222	1	0	7.83748e-43	0.01441	1.38462e-42	82	222				
OR2T3	343173	broad.mit.edu	37	1	248637257	248637257	+	Silent	SNP	G	G	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr1:248637257G>T	ENST00000359594.2	+	1	631	c.606G>T	c.(604-606)acG>acT	p.T202T		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	202						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T202T(1)		breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCTATAAGACGCTCATGTACC	0.512																																							uc001iel.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(604-606)ACG>ACT		olfactory receptor, family 2, subfamily T,							211.0	166.0	181.0					1																	248637257		2094	4207	6301	SO:0001819	synonymous_variant	343173				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248637257G>T		CCDS31117.1	1q44	2012-08-09			ENSG00000196539	ENSG00000196539		"""GPCR / Class A : Olfactory receptors"""	14727	protein-coding gene	gene with protein product							Standard	NM_001005495		Approved		uc001iel.1	Q8NH03	OTTHUMG00000040452	ENST00000359594.2:c.606G>T	1.37:g.248637257G>T							p.T202T	NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	606	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		202			Helical; Name=5; (Potential).		B2RNJ1	Silent	SNP	ENST00000359594.2	37	c.606G>T	CCDS31117.1																																																																																				0.512	OR2T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097348.1	NM_001005495		86	102	1	0	6.65942e-36	0.01441	1.13125e-35	86	102				
CUBN	8029	broad.mit.edu	37	10	17130324	17130324	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr10:17130324C>A	ENST00000377833.4	-	15	1851	c.1786G>T	c.(1786-1788)Ggt>Tgt	p.G596C		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	596	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.G596C(2)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCGTAAGGACCAGTCAGGATA	0.423																																							uc001ioo.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.(1786-1788)GGT>TGT		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						62.0	59.0	60.0					10																	17130324		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:17130324C>A	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.1786G>T	10.37:g.17130324C>A	ENSP00000367064:p.Gly596Cys						p.G596C	NM_001081	NP_001072	O60494	CUBN_HUMAN			15	1838	-			596			CUB 2.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.1786G>T	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	C	10.81	1.456352	0.26161	.	.	ENSG00000107611	ENST00000377833	T	0.18502	2.21	5.14	2.26	0.28386	CUB (5);	0.633137	0.14017	N	0.347040	T	0.39627	0.1085	M	0.80028	2.48	0.20489	N	0.999896	D	0.69078	0.997	D	0.65684	0.937	T	0.11891	-1.0569	10	0.66056	D	0.02	.	10.4644	0.44598	0.0:0.7819:0.0:0.2181	.	596	O60494	CUBN_HUMAN	C	596	ENSP00000367064:G596C	ENSP00000367064:G596C	G	-	1	0	CUBN	17170330	0.000000	0.05858	0.384000	0.26145	0.010000	0.07245	0.862000	0.27899	0.767000	0.33267	0.655000	0.94253	GGT		0.423	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		9	44	1	0	3.86212e-05	0.008291	4.3184e-05	9	44				
ITGB1	3688	broad.mit.edu	37	10	33214878	33214878	+	Missense_Mutation	SNP	A	A	G			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr10:33214878A>G	ENST00000396033.2	-	6	842	c.707T>C	c.(706-708)gTt>gCt	p.V236A	ITGB1_ENST00000374956.4_Missense_Mutation_p.V236A|ITGB1_ENST00000484088.1_5'Flank|ITGB1_ENST00000423113.1_Missense_Mutation_p.V236A|ITGB1_ENST00000302278.3_Missense_Mutation_p.V236A	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	236	VWFA.				axon extension (GO:0048675)|axon guidance (GO:0007411)|B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cardiac muscle cell differentiation (GO:0055007)|cell fate specification (GO:0001708)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular calcium ion homeostasis (GO:0006874)|cellular defense response (GO:0006968)|cellular response to ionizing radiation (GO:0071479)|cellular response to mechanical stimulus (GO:0071260)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|formation of radial glial scaffolds (GO:0021943)|G1/S transition of mitotic cell cycle (GO:0000082)|germ cell migration (GO:0008354)|heterotypic cell-cell adhesion (GO:0034113)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|maternal process involved in female pregnancy (GO:0060135)|mesodermal cell differentiation (GO:0048333)|negative regulation of anoikis (GO:2000811)|negative regulation of cell projection organization (GO:0031345)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein transport within lipid bilayer (GO:0032594)|regulation of cell cycle (GO:0051726)|regulation of collagen catabolic process (GO:0010710)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of immune response (GO:0050776)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|response to transforming growth factor beta (GO:0071559)|sarcomere organization (GO:0045214)|tight junction assembly (GO:0070830)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	acrosomal vesicle (GO:0001669)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha1-beta1 complex (GO:0034665)|integrin alpha10-beta1 complex (GO:0034680)|integrin alpha11-beta1 complex (GO:0034681)|integrin alpha2-beta1 complex (GO:0034666)|integrin alpha3-beta1 complex (GO:0034667)|integrin alpha7-beta1 complex (GO:0034677)|integrin alpha8-beta1 complex (GO:0034678)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|intercalated disc (GO:0014704)|invadopodium membrane (GO:0071438)|membrane (GO:0016020)|membrane raft (GO:0045121)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|cell adhesion molecule binding (GO:0050839)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|peptide binding (GO:0042277)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|virus receptor activity (GO:0001618)	p.V236A(2)		autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)			Antithymocyte globulin(DB00098)	CTGTTTTCCAACAAGTTCATT	0.413																																							uc001iws.3		NA																	2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(706-708)GTT>GCT		integrin beta 1 isoform 1A precursor							134.0	123.0	127.0					10																	33214878		2203	4300	6503	SO:0001583	missense	3688				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity	g.chr10:33214878A>G	BC020057	CCDS7174.1	10p11.2	2010-10-13			ENSG00000150093	ENSG00000150093		"""CD molecules"", ""Integrins"""	6153	protein-coding gene	gene with protein product		135630		FNRB, MSK12, MDF2		2524991	Standard	NM_033668		Approved	CD29, GPIIA	uc001iwt.4	P05556	OTTHUMG00000017928	ENST00000396033.2:c.707T>C	10.37:g.33214878A>G	ENSP00000379350:p.Val236Ala					ITGB1_uc001iwp.3_Missense_Mutation_p.V236A|ITGB1_uc001iwq.3_Missense_Mutation_p.V236A|ITGB1_uc001iwr.3_Missense_Mutation_p.V236A|ITGB1_uc001iwt.3_Missense_Mutation_p.V236A|ITGB1_uc001iwu.1_Missense_Mutation_p.V236A	p.V236A	NM_133376	NP_596867	P05556	ITB1_HUMAN			6	843	-		Ovarian(717;1.34e-05)|Breast(68;0.0634)	236			Extracellular (Potential).|VWFA.		A8K6N2|D3DRX9|D3DRY3|D3DRY4|D3DRY5|P78466|P78467|Q13089|Q13090|Q13091|Q13212|Q14622|Q14647|Q29RW2|Q7Z3V1|Q8WUM6	Missense_Mutation	SNP	ENST00000396033.2	37	c.707T>C	CCDS7174.1	.	.	.	.	.	.	.	.	.	.	A	30	5.055945	0.93793	.	.	ENSG00000150093	ENST00000396033;ENST00000423113;ENST00000302278;ENST00000374956	D;D;D;D	0.95690	-3.78;-3.78;-3.78;-3.78	5.75	5.75	0.90469	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.000000	0.85682	D	0.000000	D	0.98197	0.9404	M	0.92833	3.35	0.80722	D	1	D;D;D;D;D	0.76494	0.998;0.999;0.992;0.996;0.996	D;D;D;D;D	0.72625	0.972;0.978;0.931;0.956;0.911	D	0.99331	1.0909	10	0.87932	D	0	.	16.0397	0.80654	1.0:0.0:0.0:0.0	.	236;236;236;236;236	P05556-2;P05556;P05556-5;P05556-3;P05556-4	.;ITB1_HUMAN;.;.;.	A	236	ENSP00000379350:V236A;ENSP00000388694:V236A;ENSP00000303351:V236A;ENSP00000364094:V236A	ENSP00000303351:V236A	V	-	2	0	ITGB1	33254884	1.000000	0.71417	0.753000	0.31225	0.983000	0.72400	9.265000	0.95647	2.194000	0.70268	0.482000	0.46254	GTT		0.413	ITGB1-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047496.1	NM_002211		39	156	0	0	0	0.00623	0	39	156				
RET	5979	broad.mit.edu	37	10	43602005	43602005	+	Missense_Mutation	SNP	C	C	A	rs587778660		TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr10:43602005C>A	ENST00000355710.3	+	5	1281	c.1049C>A	c.(1048-1050)aCc>aAc	p.T350N	RET_ENST00000340058.5_Missense_Mutation_p.T350N	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	350					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.T350N(1)	CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	GTGCGGGCGACCGTACATGAC	0.642		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	uc001jal.2		1	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	T|Mis|N|F	ret proto-oncogene	yes	Hirschsprung disease	"""E, O"""	H4|PRKAR1A|NCOA4|PCM1|GOLGA5|TRIM33|KTN1|TRIM27|HOOK3	medullary thyroid| papillary thyroid|pheochromocytoma	medullary thyroid| papillary thyroid|pheochromocytoma		1	Substitution - Missense(1)		lung(1)	thyroid(404)|adrenal_gland(20)|lung(9)|large_intestine(5)|breast(4)|ovary(4)|central_nervous_system(3)|urinary_tract(1)|NS(1)	451						c.(1048-1050)ACC>AAC		ret proto-oncogene isoform a	Sunitinib(DB01268)						40.0	39.0	39.0					10																	43602005		2203	4299	6502	SO:0001583	missense	5979	Multiple_Endocrine_Neoplasia_type_2B|Multiple_Endocrine_Neoplasia_type_2A|Familial_Medullary_Thyroid_Carcinoma	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	g.chr10:43602005C>A	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"""Cadherins / Cadherin-related"""	9967	protein-coding gene	gene with protein product	"""cadherin-related family member 16"""	164761	"""multiple endocrine neoplasia and medullary thyroid carcinoma 1"", ""Hirschsprung disease 1"""	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.1049C>A	10.37:g.43602005C>A	ENSP00000347942:p.Thr350Asn					RET_uc001jak.1_Missense_Mutation_p.T350N|RET_uc010qez.1_Missense_Mutation_p.T96N	p.T350N	NM_020975	NP_066124	P07949	RET_HUMAN			5	1239	+		Ovarian(717;0.0423)	350			Extracellular (Potential).		A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	ENST00000355710.3	37	c.1049C>A	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	C	14.44	2.535127	0.45073	.	.	ENSG00000165731	ENST00000355710;ENST00000340058;ENST00000535749	T;T	0.80738	-1.29;-1.41	5.05	4.07	0.47477	.	0.155171	0.56097	D	0.000023	D	0.85919	0.5809	M	0.61703	1.905	0.20307	N	0.999916	D;D;D	0.76494	0.975;0.975;0.999	P;P;D	0.71870	0.776;0.776;0.975	T	0.76677	-0.2871	10	0.72032	D	0.01	.	10.2626	0.43436	0.0:0.8961:0.0:0.1039	.	96;350;350	B4DGX8;P07949;P07949-2	.;RET_HUMAN;.	N	350	ENSP00000347942:T350N;ENSP00000344798:T350N	ENSP00000344798:T350N	T	+	2	0	RET	42922011	0.770000	0.28543	0.405000	0.26409	0.541000	0.35023	2.754000	0.47532	2.620000	0.88729	0.563000	0.77884	ACC		0.642	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975		9	32	1	0	0.00448238	0.004482	0.0046765	9	32				
PCDH15	65217	broad.mit.edu	37	10	55569185	55569185	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr10:55569185C>G	ENST00000395445.1	-	36	5019	c.4625G>C	c.(4624-4626)aGa>aCa	p.R1542T	PCDH15_ENST00000395442.1_Missense_Mutation_p.R407T|PCDH15_ENST00000409834.1_3'UTR|PCDH15_ENST00000395440.1_Missense_Mutation_p.R476T|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395446.1_Missense_Mutation_p.R738T|PCDH15_ENST00000395438.1_3'UTR|PCDH15_ENST00000414778.1_Intron	NM_001142769.1	NP_001136241.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TATTCTGGCTCTCTTCCATGT	0.428										HNSCC(58;0.16)																													uc010qhs.1		NA																	0				pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(4639-4641)AGA>ACA		protocadherin 15 isoform CD2-1 precursor							179.0	167.0	170.0					10																	55569185		1568	3582	5150	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55569185C>G	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000395445.1:c.4625G>C	10.37:g.55569185C>G	ENSP00000378832:p.Arg1542Thr	HNSCC(58;0.16)				PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qht.1_Missense_Mutation_p.R1540T|PCDH15_uc010qhu.1_3'UTR	p.R1547T	NM_001142769	NP_001136241	Q96QU1	PCD15_HUMAN			37	5035	-		Melanoma(3;0.117)|Lung SC(717;0.238)	Error:Variant_position_missing_in_Q96QU1_after_alignment					A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000395445.1	37	c.4640G>C		.	.	.	.	.	.	.	.	.	.	C	14.95	2.689059	0.48097	.	.	ENSG00000150275	ENST00000395445;ENST00000395446;ENST00000395442;ENST00000395440	T;T;T;T	0.61510	0.1;0.16;0.45;0.34	5.88	2.0	0.26442	.	.	.	.	.	T	0.39655	0.1086	N	0.19112	0.55	0.80722	D	1	B;B	0.12630	0.006;0.006	B;B	0.14023	0.01;0.01	T	0.28964	-1.0027	9	0.56958	D	0.05	.	8.8329	0.35096	0.0:0.5888:0.0:0.4112	.	1540;1542	C6ZEF5;A2A3E2	.;.	T	1542;738;407;476	ENSP00000378832:R1542T;ENSP00000378833:R738T;ENSP00000378829:R407T;ENSP00000378827:R476T	ENSP00000378827:R476T	R	-	2	0	PCDH15	55239191	0.886000	0.30341	0.994000	0.49952	0.961000	0.63080	0.062000	0.14389	0.837000	0.34925	0.655000	0.94253	AGA		0.428	PCDH15-007	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000291335.1	NM_033056		96	178	0	0	0	0.01441	0	96	178				
PCDH15	65217	broad.mit.edu	37	10	55626616	55626616	+	Splice_Site	SNP	G	G	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr10:55626616G>T	ENST00000320301.6	-	27	3897	c.3503C>A	c.(3502-3504)gCt>gAt	p.A1168D	PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000409834.1_Splice_Site_p.A779D|PCDH15_ENST00000361849.3_Splice_Site_p.A1168D|PCDH15_ENST00000395433.1_Splice_Site_p.A1146D|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395430.1_Splice_Site_p.A1168D|PCDH15_ENST00000373965.2_Splice_Site_p.A1175D|PCDH15_ENST00000395432.2_Splice_Site_p.A1131D|PCDH15_ENST00000395445.1_Splice_Site_p.A1175D|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000437009.1_Splice_Site_p.A1097D|PCDH15_ENST00000395438.1_Splice_Site_p.A1168D|PCDH15_ENST00000414778.1_Splice_Site_p.A1173D|PCDH15_ENST00000373957.3_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1168	Cadherin 11. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.A1168D(2)|p.A1173D(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTTATCAGTAGCCTAGACGGA	0.343										HNSCC(58;0.16)																													uc001jju.1		NA																	4	Substitution - Missense(4)		lung(4)	pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(3502-3504)GCT>GAT		protocadherin 15 isoform CD1-4 precursor							105.0	101.0	102.0					10																	55626616		2203	4300	6503	SO:0001630	splice_region_variant	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55626616G>T	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.3502-1C>A	10.37:g.55626616G>T		HNSCC(58;0.16)				PCDH15_uc010qhq.1_Missense_Mutation_p.A1173D|PCDH15_uc010qhr.1_Missense_Mutation_p.A1168D|PCDH15_uc010qhs.1_Missense_Mutation_p.A1180D|PCDH15_uc010qht.1_Missense_Mutation_p.A1175D|PCDH15_uc010qhu.1_Missense_Mutation_p.A1168D|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.A1168D|PCDH15_uc010qhw.1_Missense_Mutation_p.A1131D|PCDH15_uc010qhx.1_Missense_Mutation_p.A1097D|PCDH15_uc010qhy.1_Missense_Mutation_p.A1173D|PCDH15_uc010qhz.1_Missense_Mutation_p.A1168D|PCDH15_uc010qia.1_Missense_Mutation_p.A1146D|PCDH15_uc010qib.1_Missense_Mutation_p.A1146D	p.A1168D	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN			27	3898	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1168			Cadherin 11.|Extracellular (Potential).		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.3503C>A	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.284728	0.80803	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T;T;T;T;T;T	0.61980	0.06;0.06;0.06;0.06;0.06;0.06;0.06;0.06;0.06;0.06;0.06	5.81	4.91	0.64330	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.87140	0.6103	H	0.97806	4.08	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.998;1.0;1.0;1.0;1.0;1.0;0.998;0.999;0.998;0.998;0.999;0.999;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D	0.87578	0.988;0.996;0.996;0.996;0.998;0.996;0.988;0.987;0.992;0.992;0.993;0.993;0.995	D	0.92366	0.5901	9	0.87932	D	0	.	16.7714	0.85538	0.0:0.1293:0.8707:0.0	.	1146;1168;1168;1173;1097;1131;1168;1168;1175;1175;1168;1173;1168	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	D	1175;1173;1168;1168;779;1175;1131;1168;1146;1168;1168;1173;1097	ENSP00000363076:A1175D;ENSP00000410304:A1173D;ENSP00000378826:A1168D;ENSP00000386693:A779D;ENSP00000378832:A1175D;ENSP00000378820:A1131D;ENSP00000354950:A1168D;ENSP00000378821:A1146D;ENSP00000322604:A1168D;ENSP00000378818:A1168D;ENSP00000412628:A1097D	ENSP00000322604:A1168D	A	-	2	0	PCDH15	55296622	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	8.030000	0.88816	1.474000	0.48178	-0.127000	0.14921	GCT		0.343	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056	Missense_Mutation	41	113	1	0	4.00102e-26	0.00623	6.31113e-26	41	113				
FAM13C	220965	broad.mit.edu	37	10	61022292	61022292	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr10:61022292C>A	ENST00000373868.2	-	10	1225	c.1138G>T	c.(1138-1140)Ggc>Tgc	p.G380C	FAM13C_ENST00000373867.3_Missense_Mutation_p.G297C|FAM13C_ENST00000277705.6_Missense_Mutation_p.G401C|FAM13C_ENST00000419214.2_Intron|FAM13C_ENST00000442566.3_Missense_Mutation_p.G401C|FAM13C_ENST00000468840.2_Missense_Mutation_p.G297C|FAM13C_ENST00000435852.2_Missense_Mutation_p.G380C|FAM13C_ENST00000422313.2_Missense_Mutation_p.G380C	NM_198215.3	NP_937858.2	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	380								p.G380C(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GGCTCCGGGCCCGCAGCTTCC	0.552																																							uc001jkn.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1138-1140)GGC>TGC		hypothetical protein LOC220965 isoform 1							68.0	71.0	70.0					10																	61022292		2203	4300	6503	SO:0001583	missense	220965							g.chr10:61022292C>A	U79304	CCDS31207.1, CCDS44406.1, CCDS7255.1, CCDS53538.1	10q21	2009-09-15	2009-01-20	2009-01-20	ENSG00000148541	ENSG00000148541			19371	protein-coding gene	gene with protein product			"""family with sequence similarity 13, member C1"""	FAM13C1			Standard	NM_001001971		Approved		uc001jkn.3	Q8NE31	OTTHUMG00000018277	ENST00000373868.2:c.1138G>T	10.37:g.61022292C>A	ENSP00000362975:p.Gly380Cys					FAM13C_uc001jko.2_Intron|FAM13C_uc010qid.1_Missense_Mutation_p.G297C|FAM13C_uc010qie.1_Missense_Mutation_p.G297C|FAM13C_uc010qif.1_Missense_Mutation_p.G402C|FAM13C_uc001jkp.2_Missense_Mutation_p.G297C	p.G380C	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN			11	1272	-			380					B7ZB77|Q5T631|Q6P2M3|Q99787	Missense_Mutation	SNP	ENST00000373868.2	37	c.1138G>T	CCDS7255.1	.	.	.	.	.	.	.	.	.	.	C	14.74	2.624978	0.46840	.	.	ENSG00000148541	ENST00000373867;ENST00000373868;ENST00000442566;ENST00000277705;ENST00000468840;ENST00000435852;ENST00000422313	T;T;T;T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09;-1.09;-1.09;-1.09	5.93	5.93	0.95920	.	0.247922	0.36101	N	0.002785	D	0.84638	0.5516	M	0.62723	1.935	0.38433	D	0.946491	D;D;D;D	0.89917	1.0;0.998;1.0;1.0	D;D;D;D	0.74348	0.983;0.911;0.974;0.983	D	0.85916	0.1443	10	0.59425	D	0.04	-19.3705	10.3463	0.43907	0.0:0.8507:0.0:0.1493	.	380;297;380;380	B7Z2K3;B7ZB77;Q8NE31-2;Q8NE31	.;.;.;FA13C_HUMAN	C	297;380;401;401;297;380;380	ENSP00000362974:G297C;ENSP00000362975:G380C;ENSP00000395661:G401C;ENSP00000277705:G401C;ENSP00000423896:G297C;ENSP00000392302:G380C;ENSP00000400241:G380C	ENSP00000277705:G401C	G	-	1	0	FAM13C	60692298	0.990000	0.36364	1.000000	0.80357	0.231000	0.25187	1.929000	0.40114	2.814000	0.96858	0.563000	0.77884	GGC		0.552	FAM13C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048162.2			47	67	1	0	3.94638e-17	0.01441	5.7147e-17	47	67				
UNC5B	219699	broad.mit.edu	37	10	73053228	73053228	+	Silent	SNP	G	G	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr10:73053228G>A	ENST00000335350.6	+	12	2255	c.1839G>A	c.(1837-1839)ctG>ctA	p.L613L	UNC5B_ENST00000373192.4_Silent_p.L602L	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	613	ZU5. {ECO:0000255|PROSITE- ProRule:PRU00485}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)		p.L613L(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						CAGGCCTCCTGCTGTGCCGCC	0.637																																							uc001jro.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(1)	3						c.(1837-1839)CTG>CTA		unc-5 homolog B precursor							101.0	99.0	100.0					10																	73053228		2203	4300	6503	SO:0001819	synonymous_variant	219699				apoptosis|axon guidance|regulation of apoptosis	integral to membrane		g.chr10:73053228G>A	AB096256	CCDS7309.1, CCDS58083.1	10q22.2	2013-01-11	2001-11-28		ENSG00000107731	ENSG00000107731		"""Immunoglobulin superfamily / I-set domain containing"""	12568	protein-coding gene	gene with protein product		607870	"""unc5 (C.elegans homolog) b"""				Standard	NM_170744		Approved	UNC5H2, p53RDL1	uc001jro.3	Q8IZJ1	OTTHUMG00000018422	ENST00000335350.6:c.1839G>A	10.37:g.73053228G>A						UNC5B_uc001jrp.2_Silent_p.L602L	p.L613L	NM_170744	NP_734465	Q8IZJ1	UNC5B_HUMAN			12	2284	+			613			Cytoplasmic (Potential).|ZU5.		Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	Silent	SNP	ENST00000335350.6	37	c.1839G>A	CCDS7309.1																																																																																				0.637	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048541.1	NM_170744		23	129	0	0	0	0.003954	0	23	129				
SORBS1	10580	broad.mit.edu	37	10	97158866	97158866	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr10:97158866C>G	ENST00000361941.3	-	10	1092	c.1066G>C	c.(1066-1068)Gaa>Caa	p.E356Q	SORBS1_ENST00000371245.3_Missense_Mutation_p.E287Q|SORBS1_ENST00000371247.2_Missense_Mutation_p.E356Q|SORBS1_ENST00000347291.4_Missense_Mutation_p.E224Q|SORBS1_ENST00000353505.5_Missense_Mutation_p.E287Q|SORBS1_ENST00000306402.6_Missense_Mutation_p.E233Q|SORBS1_ENST00000393949.1_Missense_Mutation_p.E347Q|SORBS1_ENST00000371246.2_Missense_Mutation_p.E356Q|SORBS1_ENST00000371249.2_Missense_Mutation_p.E324Q|SORBS1_ENST00000371241.1_Missense_Mutation_p.E192Q|SORBS1_ENST00000474353.2_5'UTR|SORBS1_ENST00000354106.3_Missense_Mutation_p.E347Q|SORBS1_ENST00000371227.4_Missense_Mutation_p.E356Q|SORBS1_ENST00000607232.1_Missense_Mutation_p.E191Q|SORBS1_ENST00000277982.5_Missense_Mutation_p.E356Q|SORBS1_ENST00000371239.1_Missense_Mutation_p.E201Q	NM_001034954.1	NP_001030126			sorbin and SH3 domain containing 1									p.E287Q(1)|p.E356Q(1)		NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		GCTCTTTTTTCAATAGCCTTG	0.493																																							uc001kkp.2		NA																	2	Substitution - Missense(2)		lung(2)	breast(1)	1						c.(1066-1068)GAA>CAA		sorbin and SH3 domain containing 1 isoform 3							242.0	192.0	209.0					10																	97158866		2203	4300	6503	SO:0001583	missense	10580				focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity	g.chr10:97158866C>G	AF136381	CCDS7442.1, CCDS31252.1, CCDS31253.1, CCDS31254.1, CCDS31255.1, CCDS31256.1, CCDS73169.1	10q23.33	2011-07-25	2002-05-08		ENSG00000095637	ENSG00000095637			14565	protein-coding gene	gene with protein product	"""c-Cbl-associated protein"""	605264	"""SH3-domain protein 5 (ponsin)"""	SH3D5		10085297, 11001060	Standard	XM_005269405		Approved	FLJ12406, CAP, sh3p12, ponsin, KIAA1296	uc001kkp.3	Q9BX66	OTTHUMG00000018812	ENST00000361941.3:c.1066G>C	10.37:g.97158866C>G	ENSP00000355136:p.Glu356Gln					SORBS1_uc001kkl.2_5'UTR|SORBS1_uc001kkn.2_Missense_Mutation_p.E189Q|SORBS1_uc001kkm.2_Missense_Mutation_p.E212Q|SORBS1_uc001kko.2_Missense_Mutation_p.E356Q|SORBS1_uc001kkq.2_Missense_Mutation_p.E287Q|SORBS1_uc001kkr.2_Missense_Mutation_p.E192Q|SORBS1_uc001kks.2_Missense_Mutation_p.E192Q|SORBS1_uc001kkt.2_RNA|SORBS1_uc001kku.2_Missense_Mutation_p.E233Q|SORBS1_uc001kkv.2_Missense_Mutation_p.E324Q|SORBS1_uc001kkw.2_Missense_Mutation_p.E356Q|SORBS1_uc010qoe.1_Missense_Mutation_p.E201Q|SORBS1_uc010qof.1_Missense_Mutation_p.E554Q	p.E356Q	NM_001034954	NP_001030126	Q9BX66	SRBS1_HUMAN		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)	10	1111	-		Colorectal(252;0.0429)	356						Missense_Mutation	SNP	ENST00000361941.3	37	c.1066G>C	CCDS31255.1	.	.	.	.	.	.	.	.	.	.	C	15.30	2.793736	0.50102	.	.	ENSG00000095637	ENST00000371245;ENST00000306402;ENST00000371249;ENST00000371247;ENST00000371227;ENST00000371246;ENST00000393949;ENST00000353505;ENST00000347291;ENST00000361941;ENST00000277982;ENST00000371241;ENST00000354106;ENST00000371239	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.42131	1.56;1.62;0.98;0.98;0.98;0.98;0.98;1.56;2.75;0.98;0.98;1.62;0.98;1.62	5.79	5.79	0.91817	.	0.000000	0.38548	N	0.001646	T	0.58878	0.2153	M	0.61703	1.905	0.24759	N	0.992937	D;P;P;B;P;P;P;P;P;P;P	0.67145	0.996;0.671;0.955;0.055;0.579;0.75;0.92;0.848;0.873;0.935;0.849	P;B;P;B;B;B;P;P;P;P;P	0.62089	0.882;0.154;0.898;0.076;0.371;0.438;0.812;0.69;0.597;0.828;0.521	T	0.56171	-0.8023	10	0.72032	D	0.01	-10.5375	14.425	0.67210	0.0:0.8523:0.1477:0.0	.	554;201;356;324;233;192;201;287;356;356;224	B7Z9B7;B4DTX5;Q9BX66-11;Q9BX66-10;Q9BX66-9;Q9BX66-4;Q9BX66-8;Q9BX66-3;Q9BX66;Q9BX66-2;Q9BX66-6	.;.;.;.;.;.;.;.;SRBS1_HUMAN;.;.	Q	287;233;324;356;356;356;347;287;224;356;356;192;347;201	ENSP00000360291:E287Q;ENSP00000302556:E233Q;ENSP00000360295:E324Q;ENSP00000360293:E356Q;ENSP00000360271:E356Q;ENSP00000360292:E356Q;ENSP00000377521:E347Q;ENSP00000343998:E287Q;ENSP00000277985:E224Q;ENSP00000355136:E356Q;ENSP00000277982:E356Q;ENSP00000360285:E192Q;ENSP00000277984:E347Q;ENSP00000360283:E201Q	ENSP00000277982:E356Q	E	-	1	0	SORBS1	97148856	0.907000	0.30839	0.172000	0.22920	0.378000	0.30076	3.534000	0.53568	2.745000	0.94114	0.462000	0.41574	GAA		0.493	SORBS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049517.1			28	81	0	0	0	0.005443	0	28	81				
GFRA1	2674	broad.mit.edu	37	10	117885022	117885022	+	Silent	SNP	G	G	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr10:117885022G>T	ENST00000355422.6	-	6	1030	c.480C>A	c.(478-480)gcC>gcA	p.A160A	GFRA1_ENST00000439649.3_Silent_p.A155A|GFRA1_ENST00000544592.1_Silent_p.A39A|GFRA1_ENST00000369236.1_Silent_p.A155A	NM_005264.4	NP_005255.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	160					axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	glial cell-derived neurotrophic factor receptor activity (GO:0016167)|receptor binding (GO:0005102)	p.A155A(1)		endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		CGAGGTTGCAGGCCTTCGCTG	0.562																																					Ovarian(128;329 1725 45498 46808 50759)	Ovarian(128;329 1725 45498 46808 50759)	uc001lcj.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(478-480)GCC>GCA		GDNF family receptor alpha 1 isoform a							62.0	53.0	56.0					10																	117885022		2203	4300	6503	SO:0001819	synonymous_variant	2674				axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity	g.chr10:117885022G>T	AF038421	CCDS7593.1, CCDS44481.1	10q25-q26	2011-01-25			ENSG00000151892	ENSG00000151892			4243	protein-coding gene	gene with protein product		601496		GDNFRA		9465905, 9545641	Standard	NM_005264		Approved	RETL1, GDNFR, GFR-ALPHA-1, RET1L, TRNR1	uc001lcj.3	P56159	OTTHUMG00000019097	ENST00000355422.6:c.480C>A	10.37:g.117885022G>T						GFRA1_uc001lci.2_Silent_p.A155A|GFRA1_uc009xyr.2_Silent_p.A155A	p.A160A	NM_005264	NP_005255	P56159	GFRA1_HUMAN		all cancers(201;0.0337)	6	1178	-		Lung NSC(174;0.21)	160			2.		A8KA21|O15507|O43912	Silent	SNP	ENST00000355422.6	37	c.480C>A	CCDS44481.1																																																																																				0.562	GFRA1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050512.2	NM_145793		12	28	1	0	0.00010058	0.013537	0.000110139	12	28				
PNLIPRP1	5407	broad.mit.edu	37	10	118357673	118357673	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr10:118357673G>T	ENST00000528052.1	+	8	880	c.809G>T	c.(808-810)tGg>tTg	p.W270L	PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.W270L|PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.W270L			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	270					lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|triglyceride lipase activity (GO:0004806)	p.W270L(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		GATGGCATCTGGGCGGGTAAA	0.502																																							uc001lco.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(808-810)TGG>TTG		pancreatic lipase-related protein 1 precursor							64.0	57.0	59.0					10																	118357673		2203	4300	6503	SO:0001583	missense	5407				lipid metabolic process		calcium ion binding|triglyceride lipase activity	g.chr10:118357673G>T	BC025784	CCDS7595.1	10q26.12	2006-07-04			ENSG00000187021	ENSG00000187021			9156	protein-coding gene	gene with protein product		604422				1379598	Standard	NM_006229		Approved	PLRP1	uc001lco.1	P54315	OTTHUMG00000019109	ENST00000528052.1:c.809G>T	10.37:g.118357673G>T	ENSP00000433933:p.Trp270Leu					PNLIPRP1_uc001lcp.2_Missense_Mutation_p.W270L	p.W270L	NM_006229	NP_006220	P54315	LIPR1_HUMAN		all cancers(201;0.0161)	8	827	+			270					Q68D83|Q68DR6|Q8TAU2|Q9BS82	Missense_Mutation	SNP	ENST00000528052.1	37	c.809G>T	CCDS7595.1	.	.	.	.	.	.	.	.	.	.	G	14.40	2.523279	0.44866	.	.	ENSG00000187021	ENST00000358834;ENST00000528052;ENST00000534537	D;D;D	0.90261	-2.64;-2.64;-2.64	5.19	5.19	0.71726	Lipase, N-terminal (1);	0.000000	0.64402	D	0.000001	D	0.91389	0.7283	M	0.80183	2.485	0.80722	D	1	B	0.22541	0.071	B	0.35039	0.194	D	0.87919	0.2702	10	0.28530	T	0.3	-3.3081	13.4971	0.61432	0.0:0.0:0.843:0.157	.	270	P54315	LIPR1_HUMAN	L	270	ENSP00000351695:W270L;ENSP00000433933:W270L;ENSP00000434159:W270L	ENSP00000351695:W270L	W	+	2	0	PNLIPRP1	118347663	1.000000	0.71417	0.994000	0.49952	0.824000	0.46624	6.515000	0.73751	2.568000	0.86640	0.650000	0.86243	TGG		0.502	PNLIPRP1-011	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384633.1	NM_006229		10	28	1	0	7.48243e-07	0.006214	8.85198e-07	10	28				
MKI67	4288	broad.mit.edu	37	10	129901424	129901424	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr10:129901424C>A	ENST00000368654.3	-	13	9055	c.8680G>T	c.(8680-8682)Gac>Tac	p.D2894Y	MKI67_ENST00000368653.3_Missense_Mutation_p.D2534Y	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2894	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.D2894Y(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TCTTCTGCGTCCAGCTTCCGC	0.547																																							uc001lke.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(2)|skin(1)	7						c.(8680-8682)GAC>TAC		antigen identified by monoclonal antibody Ki-67							175.0	166.0	169.0					10																	129901424		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129901424C>A	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.8680G>T	10.37:g.129901424C>A	ENSP00000357643:p.Asp2894Tyr					MKI67_uc001lkf.2_Missense_Mutation_p.D2534Y|MKI67_uc009yav.1_Missense_Mutation_p.D2469Y|MKI67_uc009yaw.1_Missense_Mutation_p.D2044Y	p.D2894Y	NM_002417	NP_002408	P46013	KI67_HUMAN			13	8875	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	2894			16 X 122 AA approximate repeats.|16.		Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.8680G>T	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	C	14.20	2.464459	0.43736	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.04454	3.62;3.62	4.35	0.131	0.14755	.	.	.	.	.	T	0.12944	0.0314	M	0.67397	2.05	0.09310	N	1	D;D;D	0.89917	0.999;0.998;1.0	D;D;D	0.81914	0.995;0.953;0.99	T	0.21075	-1.0256	9	0.62326	D	0.03	.	1.1969	0.01877	0.1802:0.4415:0.1752:0.2031	.	2893;2534;2894	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	Y	2894;2534;2893	ENSP00000357643:D2894Y;ENSP00000357642:D2534Y	ENSP00000357642:D2534Y	D	-	1	0	MKI67	129791414	0.000000	0.05858	0.000000	0.03702	0.048000	0.14542	0.030000	0.13688	-0.065000	0.13021	0.655000	0.94253	GAC		0.547	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		45	159	1	0	3.7052e-28	0.013114	6.02379e-28	45	159				
OR52J3	119679	broad.mit.edu	37	11	5068622	5068622	+	Silent	SNP	C	C	T	rs559089699		TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr11:5068622C>T	ENST00000380370.1	+	1	867	c.867C>T	c.(865-867)aaC>aaT	p.N289N		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	289						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N289N(1)		NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCTCTCTCAACCCCATCATTT	0.388																																							uc010qyv.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|lung(1)|skin(1)	3						c.(865-867)AAC>AAT		olfactory receptor, family 52, subfamily J,							99.0	91.0	93.0					11																	5068622		2201	4298	6499	SO:0001819	synonymous_variant	119679				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5068622C>T	AB065530	CCDS31370.1	11p15.4	2012-08-09			ENSG00000205495	ENSG00000205495		"""GPCR / Class A : Olfactory receptors"""	14799	protein-coding gene	gene with protein product							Standard	NM_001001916		Approved		uc010qyv.2	Q8NH60	OTTHUMG00000066600	ENST00000380370.1:c.867C>T	11.37:g.5068622C>T							p.N289N	NM_001001916	NP_001001916	Q8NH60	O52J3_HUMAN		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	867	+		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)	289			Helical; Name=7; (Potential).		Q6IFE4	Silent	SNP	ENST00000380370.1	37	c.867C>T	CCDS31370.1																																																																																				0.388	OR52J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142807.1	NM_001001916		26	105	0	0	0	0.007291	0	26	105				
OR51I2	390064	broad.mit.edu	37	11	5474954	5474954	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr11:5474954C>A	ENST00000341449.2	+	1	317	c.236C>A	c.(235-237)cCc>cAc	p.P79H	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	79					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P79H(1)		endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCCACACTGCCCACTGTACTC	0.502																																							uc010qzf.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(235-237)CCC>CAC		olfactory receptor, family 51, subfamily I,							120.0	113.0	115.0					11																	5474954		2201	4297	6498	SO:0001583	missense	390064				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5474954C>A	BK004381	CCDS31383.1	11p15.4	2012-08-09			ENSG00000187918	ENSG00000187918		"""GPCR / Class A : Olfactory receptors"""	15201	protein-coding gene	gene with protein product							Standard	NM_001004754		Approved		uc010qzf.2	Q9H344	OTTHUMG00000066902	ENST00000341449.2:c.236C>A	11.37:g.5474954C>A	ENSP00000341987:p.Pro79His					HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	p.P79H	NM_001004754	NP_001004754	Q9H344	O51I2_HUMAN		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	236	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	79			Extracellular (Potential).		Q6IF81	Missense_Mutation	SNP	ENST00000341449.2	37	c.236C>A	CCDS31383.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.026053	0.75390	.	.	ENSG00000187918	ENST00000341449	T	0.25749	1.78	5.57	4.65	0.58169	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000004	T	0.62270	0.2414	H	0.94264	3.515	0.45930	D	0.99876	D	0.89917	1.0	D	0.87578	0.998	T	0.74934	-0.3495	10	0.87932	D	0	.	14.6575	0.68844	0.1465:0.8535:0.0:0.0	.	79	Q9H344	O51I2_HUMAN	H	79	ENSP00000341987:P79H	ENSP00000341987:P79H	P	+	2	0	OR51I2	5431530	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	7.396000	0.79891	1.561000	0.49584	0.650000	0.86243	CCC		0.502	OR51I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143385.1	NM_001004754		29	98	1	0	9.65021e-13	0.010818	1.31144e-12	29	98				
PTH	5741	broad.mit.edu	37	11	13514010	13514010	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr11:13514010C>T	ENST00000282091.1	-	3	404	c.290G>A	c.(289-291)aGt>aAt	p.S97N	PTH_ENST00000529816.1_Missense_Mutation_p.S97N	NM_000315.2	NP_000306.1	P01270	PTHY_HUMAN	parathyroid hormone	97					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|bone resorption (GO:0045453)|cAMP metabolic process (GO:0046058)|cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|cellular macromolecule biosynthetic process (GO:0034645)|G-protein coupled receptor signaling pathway (GO:0007186)|hormone-mediated apoptotic signaling pathway (GO:0008628)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of signal transduction (GO:0009967)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression (GO:0010468)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to lead ion (GO:0010288)|response to parathyroid hormone (GO:0071107)|response to vitamin D (GO:0033280)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	hormone activity (GO:0005179)|peptide hormone receptor binding (GO:0051428)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)	p.S97N(1)		endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10				BRCA - Breast invasive adenocarcinoma(625;0.00116)|Epithelial(150;0.0357)|LUSC - Lung squamous cell carcinoma(625;0.0836)		CTCTCCAAGACTTTTTTCATG	0.433																																							uc001mlb.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(289-291)AGT>AAT		parathyroid hormone preproprotein							120.0	110.0	114.0					11																	13514010		2200	4294	6494	SO:0001583	missense	5741				bone resorption|cAMP metabolic process|cell-cell signaling|cellular calcium ion homeostasis|cellular macromolecule biosynthetic process|induction of apoptosis by hormones|positive regulation of cAMP biosynthetic process|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|skeletal system development		hormone activity|peptide hormone receptor binding	g.chr11:13514010C>T	J00301	CCDS7812.1	11p15.3-p15.1	2013-02-28				ENSG00000152266		"""Endogenous ligands"""	9606	protein-coding gene	gene with protein product	"""parathyrin"", ""parathormone"", ""parathyroid hormone 1"", ""preproparathyroid hormone"", ""prepro-PTH"""	168450				1672845	Standard	NM_000315		Approved	PTH1	uc001mlb.3	P01270		ENST00000282091.1:c.290G>A	11.37:g.13514010C>T	ENSP00000282091:p.Ser97Asn						p.S97N	NM_000315	NP_000306	P01270	PTHY_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00116)|Epithelial(150;0.0357)|LUSC - Lung squamous cell carcinoma(625;0.0836)	3	405	-			97					Q4VB48|Q9UD38	Missense_Mutation	SNP	ENST00000282091.1	37	c.290G>A	CCDS7812.1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.654134	0.67472	.	.	ENSG00000152266	ENST00000282091;ENST00000529816	D;D	0.81821	-1.54;-1.54	5.95	3.98	0.46160	.	0.263382	0.43579	D	0.000542	T	0.74854	0.3771	M	0.63428	1.95	0.29434	N	0.859668	B	0.06786	0.001	B	0.12837	0.008	T	0.70761	-0.4784	10	0.62326	D	0.03	-10.9391	6.5374	0.22361	0.0:0.6371:0.16:0.2029	.	97	P01270	PTHY_HUMAN	N	97	ENSP00000282091:S97N;ENSP00000433208:S97N	ENSP00000282091:S97N	S	-	2	0	PTH	13470586	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.425000	0.34859	1.522000	0.49001	0.650000	0.86243	AGT		0.433	PTH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386198.1	NM_000315		15	84	0	0	0	0.003163	0	15	84				
RRAS2	22800	broad.mit.edu	37	11	14316111	14316111	+	Missense_Mutation	SNP	T	T	C	rs571234555		TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr11:14316111T>C	ENST00000256196.4	-	4	627	c.314A>G	c.(313-315)tAt>tGt	p.Y105C	RRAS2_ENST00000532814.1_Missense_Mutation_p.Y28C|RRAS2_ENST00000529237.1_Missense_Mutation_p.Y28C|RRAS2_ENST00000537760.1_Missense_Mutation_p.Y70C|RRAS2_ENST00000414023.2_Missense_Mutation_p.Y28C|RRAS2_ENST00000526063.1_Missense_Mutation_p.Y28C|RRAS2_ENST00000545643.1_Missense_Mutation_p.Y111C|RRAS2_ENST00000534746.1_Missense_Mutation_p.Y28C			P62070	RRAS2_HUMAN	related RAS viral (r-ras) oncogene homolog 2	105					osteoblast differentiation (GO:0001649)|positive regulation of cell migration (GO:0030335)|Ras protein signal transduction (GO:0007265)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.Y105C(1)		breast(3)|endometrium(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	12				Epithelial(150;0.203)		TTGAAACTTATAGATTTCTTC	0.308																																							uc001mlf.3		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(313-315)TAT>TGT		related RAS viral (r-ras) oncogene homolog 2							36.0	39.0	38.0					11																	14316111		2194	4290	6484	SO:0001583	missense	22800					endoplasmic reticulum|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr11:14316111T>C	M31468	CCDS7814.1, CCDS44544.1, CCDS53603.1	11p15.2	2014-05-09			ENSG00000133818	ENSG00000133818			17271	protein-coding gene	gene with protein product		600098				2108320, 8052619	Standard	NM_012250		Approved	TC21	uc001mlf.4	P62070	OTTHUMG00000165756	ENST00000256196.4:c.314A>G	11.37:g.14316111T>C	ENSP00000256196:p.Tyr105Cys					RRAS2_uc009ygq.2_Missense_Mutation_p.Y28C|RRAS2_uc010rco.1_Missense_Mutation_p.Y111C	p.Y105C	NM_012250	NP_036382	P62070	RRAS2_HUMAN		Epithelial(150;0.203)	4	627	-			105					B2R9Z3|B7Z5Z2|B7Z6C4|B7Z7H6|P17082	Missense_Mutation	SNP	ENST00000256196.4	37	c.314A>G	CCDS7814.1	.	.	.	.	.	.	.	.	.	.	T	16.16	3.045943	0.55110	.	.	ENSG00000133818	ENST00000537760;ENST00000545643;ENST00000414023;ENST00000529237;ENST00000256196;ENST00000534746;ENST00000526063;ENST00000532814;ENST00000531807;ENST00000531421	T;T;T;T;T;T;T;T;T;T	0.76709	-1.04;-1.04;-1.04;-1.04;-1.04;-1.04;-1.04;-1.04;-1.04;-1.04	5.88	2.27	0.28462	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.65790	0.2725	N	0.11201	0.11	0.58432	D	0.99999	P;D	0.63046	0.943;0.992	P;P	0.55087	0.768;0.717	T	0.62077	-0.6930	10	0.42905	T	0.14	.	4.6334	0.12513	0.1358:0.2036:0.0:0.6605	.	111;105	B7Z5Z2;P62070	.;RRAS2_HUMAN	C	70;111;28;28;105;28;28;28;86;28	ENSP00000437547:Y70C;ENSP00000441722:Y111C;ENSP00000403282:Y28C;ENSP00000433230:Y28C;ENSP00000256196:Y105C;ENSP00000437083:Y28C;ENSP00000434104:Y28C;ENSP00000431954:Y28C;ENSP00000435453:Y86C;ENSP00000432559:Y28C	ENSP00000256196:Y105C	Y	-	2	0	RRAS2	14272687	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	5.692000	0.68256	0.132000	0.18615	0.459000	0.35465	TAT		0.308	RRAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386035.1	NM_012250		5	35	0	0	0	0.001168	0	5	35				
LUZP2	338645	broad.mit.edu	37	11	24759849	24759849	+	Splice_Site	SNP	G	G	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr11:24759849G>T	ENST00000336930.6	+	4	399		c.e4+1		LUZP2_ENST00000533227.1_Splice_Site|LUZP2_ENST00000531187.1_Splice_Site			Q86TE4	LUZP2_HUMAN	leucine zipper protein 2							extracellular region (GO:0005576)		p.?(2)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						CCAGGCTACTGTAAGTGTGTT	0.368																																							uc001mqs.2		NA																	2	Unknown(2)		haematopoietic_and_lymphoid_tissue(1)|lung(1)	ovary(1)|skin(1)	2						c.e4+1		leucine zipper protein 2 precursor							81.0	83.0	83.0					11																	24759849		2203	4300	6503	SO:0001630	splice_region_variant	338645					extracellular region		g.chr11:24759849G>T	AL832641	CCDS31446.1, CCDS58128.1	11p14.3	2005-09-18			ENSG00000187398	ENSG00000187398			23206	protein-coding gene	gene with protein product		608178				12856284	Standard	NM_001009909		Approved		uc001mqs.3	Q86TE4	OTTHUMG00000166109	ENST00000336930.6:c.333+1G>T	11.37:g.24759849G>T						LUZP2_uc009yif.2_Splice_Site_p.T25_splice|LUZP2_uc009yig.2_Splice_Site_p.T111_splice	p.T111_splice	NM_001009909	NP_001009909	Q86TE4	LUZP2_HUMAN			4	567	+								A2RUB8|E9PN53|Q6UXE7|Q6ZS65	Splice_Site	SNP	ENST00000336930.6	37	c.333_splice	CCDS31446.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.189143	0.78789	.	.	ENSG00000187398	ENST00000336930;ENST00000529015;ENST00000533227	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4594	0.87616	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LUZP2	24716425	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	7.689000	0.84165	2.725000	0.93324	0.655000	0.94253	.		0.368	LUZP2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387861.1	NM_001009909	Intron	12	23	1	0	1.3612e-06	0.003163	1.60319e-06	12	23				
KIF18A	81930	broad.mit.edu	37	11	28116239	28116239	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr11:28116239T>C	ENST00000263181.6	-	3	724	c.434A>G	c.(433-435)gAt>gGt	p.D145G		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	145	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|protein transport (GO:0015031)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore microtubule (GO:0005828)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|ruffle (GO:0001726)	actin binding (GO:0003779)|ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|plus-end-directed microtubule motor activity (GO:0008574)|tubulin-dependent ATPase activity (GO:0070463)|ubiquitin binding (GO:0043130)	p.D145G(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						TTTAATCTCATCCATGCATTT	0.383																																							uc001msc.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(433-435)GAT>GGT		kinesin family member 18A							183.0	166.0	171.0					11																	28116239		2202	4299	6501	SO:0001583	missense	81930				blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding	g.chr11:28116239T>C	AL136819	CCDS7867.1	11p14.1	2014-06-12			ENSG00000121621	ENSG00000121621		"""Kinesins"""	29441	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 99"""	611271				11230166	Standard	NM_031217		Approved	DKFZP434G2226, PPP1R99	uc001msc.2	Q8NI77	OTTHUMG00000166195	ENST00000263181.6:c.434A>G	11.37:g.28116239T>C	ENSP00000263181:p.Asp145Gly						p.D145G	NM_031217	NP_112494	Q8NI77	KI18A_HUMAN			3	616	-			145			Kinesin-motor.		Q4VPE3|Q86VS5|Q9H0F3	Missense_Mutation	SNP	ENST00000263181.6	37	c.434A>G	CCDS7867.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.635326	0.87760	.	.	ENSG00000121621	ENST00000263181	T	0.72615	-0.67	5.58	5.58	0.84498	Kinesin, motor domain (4);	0.089115	0.85682	D	0.000000	T	0.79076	0.4385	L	0.55743	1.74	0.80722	D	1	D	0.56035	0.974	P	0.60886	0.88	T	0.78892	-0.2025	10	0.44086	T	0.13	.	15.7947	0.78401	0.0:0.0:0.0:1.0	.	145	Q8NI77	KI18A_HUMAN	G	145	ENSP00000263181:D145G	ENSP00000263181:D145G	D	-	2	0	KIF18A	28072815	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.037000	0.88933	2.139000	0.66308	0.529000	0.55759	GAT		0.383	KIF18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388328.3	NM_031217		27	133	0	0	0	0.00632	0	27	133				
WT1	7490	broad.mit.edu	37	11	32414287	32414287	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr11:32414287G>T	ENST00000379079.2	-	8	901	c.628C>A	c.(628-630)Cag>Aag	p.Q210K	WT1_ENST00000332351.3_Missense_Mutation_p.Q422K|WT1_ENST00000448076.3_Missense_Mutation_p.Q422K|WT1_ENST00000530998.1_Missense_Mutation_p.Q193K	NM_001198551.1	NP_001185480.1	P19544	WT1_HUMAN	Wilms tumor 1	354					adrenal cortex formation (GO:0035802)|adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|diaphragm development (GO:0060539)|epithelial cell differentiation (GO:0030855)|germ cell development (GO:0007281)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|gonad development (GO:0008406)|heart development (GO:0007507)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|mesenchymal to epithelial transition (GO:0060231)|metanephric epithelium development (GO:0072207)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of female gonad development (GO:2000195)|negative regulation of metanephric glomerular mesangial cell proliferation (GO:0072302)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of heart growth (GO:0060421)|positive regulation of male gonad development (GO:2000020)|positive regulation of metanephric ureteric bud development (GO:2001076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior mesonephric tubule development (GO:0072166)|regulation of organ formation (GO:0003156)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|sex determination (GO:0007530)|thorax and anterior abdomen determination (GO:0007356)|tissue development (GO:0009888)|ureteric bud development (GO:0001657)|vasculogenesis (GO:0001570)|visceral serous pericardium development (GO:0061032)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.Q354K(1)|p.Q210K(1)	EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			AAGTCACACTGGTATGGTTTC	0.428			"""D, Mis, N, F, S"""	EWSR1	"""Wilms, desmoplastic small round cell tumor"""	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome																														uc001mtn.1		NA	yes	Rec	yes	"""Denys-Drash syndrome, Frasier syndrome, Familial Wilms tumor"""	11	11p13	7490	D|Mis|N|F|S	Wilms tumour 1 gene			O	EWSR1	Wilms	Wilms|desmoplastic small round cell tumor	EWSR1/WT1(231)	2	Substitution - Missense(2)		lung(2)	haematopoietic_and_lymphoid_tissue(318)|soft_tissue(231)|kidney(132)|pleura(2)|lung(2)|upper_aerodigestive_tract(1)|peritoneum(1)	687						c.(1264-1266)CAG>AAG		Wilms tumor 1 isoform D							151.0	132.0	138.0					11																	32414287		2202	4299	6501	SO:0001583	missense	7490	Denys-Drash_syndrome|Frasier_syndrome|Familial_Wilms_tumor|Wilms_tumor-Aniridia-ambiguous_Genitals-mental_Retardation	Familial Cancer Database	WAGR syndrome; ; ;incl.: Early Onset Nephrotic Syndrome-WT1 associated	adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr11:32414287G>T		CCDS7878.2, CCDS44561.1, CCDS44562.1, CCDS55750.1, CCDS55751.1	11p13	2014-09-17			ENSG00000184937	ENSG00000184937		"""Zinc fingers, C2H2-type"""	12796	protein-coding gene	gene with protein product		607102		GUD		14681303	Standard	NM_024424		Approved	WAGR, WIT-2, AWT1	uc001mtn.2	P19544	OTTHUMG00000039556	ENST00000379079.2:c.628C>A	11.37:g.32414287G>T	ENSP00000368370:p.Gln210Lys					WT1_uc001mtl.1_Missense_Mutation_p.Q210K|WT1_uc001mtm.1_Missense_Mutation_p.Q193K|WT1_uc001mto.1_Missense_Mutation_p.Q422K|WT1_uc001mtp.1_Missense_Mutation_p.Q405K|WT1_uc001mtq.1_Missense_Mutation_p.Q405K|WT1_uc009yjs.1_RNA	p.Q422K	NM_024426	NP_077744	P19544	WT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(30;0.128)		8	1460	-	Breast(20;0.247)		354			C2H2-type 2.		A8K6S1|B3KSA5|Q15881|Q16256|Q16575|Q4VXV4|Q4VXV5|Q4VXV6|Q8IYZ5	Missense_Mutation	SNP	ENST00000379079.2	37	c.1264C>A	CCDS55751.1	.	.	.	.	.	.	.	.	.	.	G	33	5.242727	0.95272	.	.	ENSG00000184937	ENST00000379079;ENST00000332351;ENST00000530998;ENST00000452863;ENST00000448076	T;T;T;T;T	0.16597	2.33;2.33;2.33;2.33;2.33	5.73	5.73	0.89815	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	U	0.000004	T	0.14098	0.0341	N	0.00890	-1.11	0.80722	D	1	P;P;P;P;P	0.50528	0.93;0.747;0.936;0.655;0.703	P;P;P;P;P	0.59595	0.714;0.794;0.86;0.625;0.56	T	0.55933	-0.8062	10	0.21540	T	0.41	.	20.263	0.98456	0.0:0.0:1.0:0.0	.	410;354;427;193;210	P19544-8;P19544;P19544-7;B3KSA5;P19544-6	.;WT1_HUMAN;.;.;.	K	210;422;193;405;422	ENSP00000368370:Q210K;ENSP00000331327:Q422K;ENSP00000435307:Q193K;ENSP00000415516:Q405K;ENSP00000413452:Q422K	ENSP00000331327:Q422K	Q	-	1	0	WT1	32370863	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.782000	0.99034	2.868000	0.98415	0.555000	0.69702	CAG		0.428	WT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000095434.1	NM_000378		22	54	1	0	4.26978e-12	0.00333	5.7146e-12	22	54				
OR4A15	81328	broad.mit.edu	37	11	55135556	55135556	+	Missense_Mutation	SNP	C	C	T	rs199660751	byFrequency	TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr11:55135556C>T	ENST00000314706.3	+	1	197	c.197C>T	c.(196-198)aCg>aTg	p.T66M		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	66						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T66M(2)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						TACATGGTGACGATAATGGGC	0.423													.|||	2	0.000399361	0.0008	0.0014	5008	,	,		18318	0.0		0.0	False		,,,				2504	0.0						uc010rif.1		NA																	2	Substitution - Missense(2)		lung(1)|prostate(1)	ovary(1)|skin(1)	2						c.(196-198)ACG>ATG		olfactory receptor, family 4, subfamily A,		C	MET/THR	0,4402		0,0,2201	98.0	90.0	93.0		197	2.5	0.0	11		93	1,8591	1.2+/-3.3	0,1,4295	no	missense	OR4A15	NM_001005275.1	81	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	66/345	55135556	1,12993	2201	4296	6497	SO:0001583	missense	81328				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55135556C>T	AB065776	CCDS31500.1	11q11	2012-08-09			ENSG00000181958	ENSG00000181958		"""GPCR / Class A : Olfactory receptors"""	15152	protein-coding gene	gene with protein product							Standard	NM_001005275		Approved		uc010rif.2	Q8NGL6	OTTHUMG00000166711	ENST00000314706.3:c.197C>T	11.37:g.55135556C>T	ENSP00000325065:p.Thr66Met						p.T66M	NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN			1	197	+			66			Helical; Name=1; (Potential).		Q6IFL4|Q96R65	Missense_Mutation	SNP	ENST00000314706.3	37	c.197C>T	CCDS31500.1	.	.	.	.	.	.	.	.	.	.	c	14.36	2.512216	0.44660	0.0	1.16E-4	ENSG00000181958	ENST00000314706	T	0.01455	4.87	3.48	2.53	0.30540	.	0.000000	0.51477	D	0.000087	T	0.12305	0.0299	H	0.95611	3.695	0.09310	N	1	D	0.71674	0.998	P	0.62813	0.907	T	0.06643	-1.0815	10	0.87932	D	0	.	9.5777	0.39468	0.2117:0.7883:0.0:0.0	.	66	Q8NGL6	O4A15_HUMAN	M	66	ENSP00000325065:T66M	ENSP00000325065:T66M	T	+	2	0	OR4A15	54892132	0.000000	0.05858	0.006000	0.13384	0.010000	0.07245	0.304000	0.19228	0.639000	0.30564	0.492000	0.49549	ACG		0.423	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391161.1	NM_001005275		34	110	0	0	0	0.013726	0	34	110				
OR5AS1	219447	broad.mit.edu	37	11	55798578	55798578	+	Silent	SNP	C	C	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr11:55798578C>A	ENST00000313555.1	+	1	684	c.684C>A	c.(682-684)atC>atA	p.I228I		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	228						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I228I(1)		endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					TGTTGAGCATCAAGTCCTCAG	0.448																																							uc010riw.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|liver(1)|skin(1)	5						c.(682-684)ATC>ATA		olfactory receptor, family 5, subfamily AS,							187.0	172.0	177.0					11																	55798578		2201	4296	6497	SO:0001819	synonymous_variant	219447				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55798578C>A	AB065543	CCDS31516.1	11q11	2012-08-09			ENSG00000181785	ENSG00000181785		"""GPCR / Class A : Olfactory receptors"""	15261	protein-coding gene	gene with protein product							Standard	NM_001001921		Approved		uc010riw.2	Q8N127	OTTHUMG00000166830	ENST00000313555.1:c.684C>A	11.37:g.55798578C>A							p.I228I	NM_001001921	NP_001001921	Q8N127	O5AS1_HUMAN			1	684	+	Esophageal squamous(21;0.00693)		228			Cytoplasmic (Potential).		Q6IFB8	Silent	SNP	ENST00000313555.1	37	c.684C>A	CCDS31516.1																																																																																				0.448	OR5AS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391538.1	NM_001001921		105	263	1	0	2.18974e-44	0.01441	3.89451e-44	105	263				
OR5B17	219965	broad.mit.edu	37	11	58125640	58125640	+	Silent	SNP	C	C	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr11:58125640C>T	ENST00000357377.3	-	1	902	c.903G>A	c.(901-903)aaG>aaA	p.K301K		NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B, member 17	301						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K301K(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TCTCAACAACCTTCATGAATG	0.348																																							uc010rke.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(901-903)AAG>AAA		olfactory receptor, family 5, subfamily B,							113.0	111.0	111.0					11																	58125640		2201	4295	6496	SO:0001819	synonymous_variant	219965				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58125640C>T	AB065849	CCDS31548.1	11q12.1	2012-08-09			ENSG00000197786	ENSG00000197786		"""GPCR / Class A : Olfactory receptors"""	15267	protein-coding gene	gene with protein product				OR5B20P			Standard	NM_001005489		Approved		uc010rke.2	Q8NGF7	OTTHUMG00000167465	ENST00000357377.3:c.903G>A	11.37:g.58125640C>T							p.K301K	NM_001005489	NP_001005489	Q8NGF7	OR5BH_HUMAN			1	903	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	301			Cytoplasmic (Potential).		Q6IEX1	Silent	SNP	ENST00000357377.3	37	c.903G>A	CCDS31548.1																																																																																				0.348	OR5B17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394708.2	NM_001005489		35	118	0	0	0	0.005524	0	35	118				
OR5B2	390190	broad.mit.edu	37	11	58189942	58189942	+	Missense_Mutation	SNP	A	A	C			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr11:58189942A>C	ENST00000302581.2	-	1	844	c.793T>G	c.(793-795)Tcc>Gcc	p.S265A		NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B, member 2	265						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S265A(1)|p.S265T(1)		NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GTGTCCATGGAGTGGCTGGAG	0.498																																							uc010rkg.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(793-795)TCC>GCC		olfactory receptor, family 5, subfamily B,							102.0	93.0	96.0					11																	58189942		2201	4295	6496	SO:0001583	missense	390190				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58189942A>C	AB065852	CCDS31550.1	11q12.1	2012-08-09			ENSG00000172365	ENSG00000172365		"""GPCR / Class A : Olfactory receptors"""	8323	protein-coding gene	gene with protein product							Standard	NM_001005566		Approved	OST073	uc010rkg.2	Q96R09	OTTHUMG00000167517	ENST00000302581.2:c.793T>G	11.37:g.58189942A>C	ENSP00000303076:p.Ser265Ala						p.S265A	NM_001005566	NP_001005566	Q96R09	OR5B2_HUMAN			1	793	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	265			Extracellular (Potential).		B2RNJ6|B9EGY7|Q6IEV7|Q8NGF5	Missense_Mutation	SNP	ENST00000302581.2	37	c.793T>G	CCDS31550.1	.	.	.	.	.	.	.	.	.	.	A	10.86	1.468787	0.26335	.	.	ENSG00000172365	ENST00000302581	T	0.00235	8.48	3.73	3.73	0.42828	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35262	U	0.003339	T	0.00241	0.0007	L	0.61036	1.89	0.27516	N	0.951555	B	0.26400	0.148	B	0.33690	0.168	T	0.13683	-1.0500	10	0.52906	T	0.07	-17.9357	11.6478	0.51271	1.0:0.0:0.0:0.0	.	265	Q96R09	OR5B2_HUMAN	A	265	ENSP00000303076:S265A	ENSP00000303076:S265A	S	-	1	0	OR5B2	57946518	0.019000	0.18553	0.981000	0.43875	0.183000	0.23260	0.600000	0.24104	1.703000	0.51240	0.477000	0.44152	TCC		0.498	OR5B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394887.2	NM_001005566		13	45	0	0	0	0.00245	0	13	45				
TCN1	6947	broad.mit.edu	37	11	59626664	59626664	+	Silent	SNP	T	T	C			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr11:59626664T>C	ENST00000257264.3	-	5	737	c.633A>G	c.(631-633)gaA>gaG	p.E211E	TCN1_ENST00000532419.1_Intron	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	211	Globular N-terminal alpha domain.				cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cobalamin binding (GO:0031419)	p.E211E(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTAAACTGCCTTCATCTGCTT	0.388																																							uc001noj.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(631-633)GAA>GAG		transcobalamin I precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						207.0	187.0	194.0					11																	59626664		2201	4295	6496	SO:0001819	synonymous_variant	6947				cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding	g.chr11:59626664T>C	J05068	CCDS7978.1	11q11-q12	2008-07-21			ENSG00000134827	ENSG00000134827			11652	protein-coding gene	gene with protein product	"""haptocorin"", ""haptocorrin"""	189905					Standard	NM_001062		Approved	TCI, TC1	uc001noj.2	P20061	OTTHUMG00000167400	ENST00000257264.3:c.633A>G	11.37:g.59626664T>C							p.E211E	NM_001062	NP_001053	P20061	TCO1_HUMAN			5	731	-		all_epithelial(135;0.198)	211					A8KAC5|Q8WV77	Silent	SNP	ENST00000257264.3	37	c.633A>G	CCDS7978.1																																																																																				0.388	TCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394503.1	NM_001062		40	201	0	0	0	0.00623	0	40	201				
MS4A14	84689	broad.mit.edu	37	11	60183087	60183087	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr11:60183087C>A	ENST00000300187.6	+	5	923	c.646C>A	c.(646-648)Cct>Act	p.P216T	MS4A14_ENST00000531783.1_Missense_Mutation_p.P249T|MS4A14_ENST00000531787.1_Missense_Mutation_p.P104T|MS4A14_ENST00000395005.2_Missense_Mutation_p.P199T|MS4A14_ENST00000395001.1_3'UTR	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	216						integral component of membrane (GO:0016021)		p.P216T(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						CTCTAGGAGTCCTTTAGTCTC	0.383																																							uc001npj.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(646-648)CCT>ACT		membrane-spanning 4-domains, subfamily A, member							106.0	106.0	106.0					11																	60183087		2203	4300	6503	SO:0001583	missense	84689					integral to membrane	receptor activity	g.chr11:60183087C>A	AY584610	CCDS31569.1, CCDS41652.1, CCDS58136.1, CCDS73295.1	11q12.2	2008-04-10	2008-04-10	2008-04-10		ENSG00000166928			30706	protein-coding gene	gene with protein product			"""membrane-spanning 4-domains, subfamily A, member 16"""	MS4A16			Standard	NM_032597		Approved	NYD-SP21, FLJ32856, DKFZp434H092	uc031qbd.1	Q96JA4		ENST00000300187.6:c.646C>A	11.37:g.60183087C>A	ENSP00000300187:p.Pro216Thr					MS4A14_uc001npi.2_Missense_Mutation_p.P104T|MS4A14_uc001npn.2_5'UTR|MS4A14_uc001npk.2_Missense_Mutation_p.P199T|MS4A14_uc001npl.2_5'UTR|MS4A14_uc001npm.2_5'UTR	p.P216T	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN			5	1211	+			216					E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Missense_Mutation	SNP	ENST00000300187.6	37	c.646C>A	CCDS31569.1	.	.	.	.	.	.	.	.	.	.	C	14.50	2.553879	0.45487	.	.	ENSG00000166928	ENST00000531787;ENST00000300187;ENST00000395005;ENST00000531783	T;T;T;T	0.13901	4.47;4.47;4.47;2.55	3.39	1.46	0.22682	.	3.093620	0.01241	N	0.008609	T	0.32071	0.0817	L	0.56769	1.78	0.18873	N	0.999986	D;D	0.69078	0.996;0.997	P;D	0.65773	0.897;0.938	T	0.04320	-1.0960	10	0.62326	D	0.03	-1.9648	5.9041	0.18982	0.0:0.7506:0.0:0.2494	.	199;216	Q96JA4-2;Q96JA4	.;M4A14_HUMAN	T	104;216;199;249	ENSP00000437222:P104T;ENSP00000300187:P216T;ENSP00000378453:P199T;ENSP00000433761:P249T	ENSP00000300187:P216T	P	+	1	0	MS4A14	59939663	0.000000	0.05858	0.065000	0.19835	0.408000	0.30992	-0.346000	0.07760	0.418000	0.25898	0.650000	0.86243	CCT		0.383	MS4A14-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395383.2			11	123	1	0	3.07112e-06	0.010729	3.5695e-06	11	123				
KRTAP5-10	387273	broad.mit.edu	37	11	71276953	71276953	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr11:71276953G>T	ENST00000398531.1	+	1	345	c.320G>T	c.(319-321)tGt>tTt	p.C107F	KRTAP5-10_ENST00000376536.4_Intron	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	107	7 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)		p.C107F(1)		endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						TGTGGTTCTTGTGGGGGCTCC	0.677																																							uc001oqt.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(319-321)TGT>TTT		keratin associated protein 5-10							39.0	60.0	53.0					11																	71276953		2168	4270	6438	SO:0001583	missense	387273					keratin filament		g.chr11:71276953G>T	AB126079	CCDS41684.1	11q13.4	2008-02-05			ENSG00000204572	ENSG00000204572		"""Keratin associated proteins"""	23605	protein-coding gene	gene with protein product						15144888	Standard	NM_001012710		Approved	KRTAP5.10	uc001oqt.1	Q6L8G5	OTTHUMG00000057585	ENST00000398531.1:c.320G>T	11.37:g.71276953G>T	ENSP00000381542:p.Cys107Phe						p.C107F	NM_001012710	NP_001012728	Q6L8G5	KR510_HUMAN			1	345	+			107			7 X 4 AA repeats of C-C-X-P.		B9EHA4	Missense_Mutation	SNP	ENST00000398531.1	37	c.320G>T	CCDS41684.1	.	.	.	.	.	.	.	.	.	.	.	0.129	-1.116099	0.01799	.	.	ENSG00000204572	ENST00000398531	T	0.01159	5.25	2.02	-0.209	0.13180	.	.	.	.	.	T	0.02533	0.0077	M	0.88842	2.985	0.09310	N	1	B	0.29432	0.244	B	0.24155	0.051	T	0.17531	-1.0366	9	0.54805	T	0.06	.	9.1874	0.37178	0.0:0.4222:0.5777:0.0	.	107	Q6L8G5	KR510_HUMAN	F	107	ENSP00000381542:C107F	ENSP00000381542:C107F	C	+	2	0	KRTAP5-10	70954601	0.222000	0.23652	0.001000	0.08648	0.001000	0.01503	4.681000	0.61663	-0.023000	0.13963	-0.714000	0.03626	TGT		0.677	KRTAP5-10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000127968.2			26	34	1	0	1.30409e-13	0.01441	1.80934e-13	26	34				
GRM5	2915	broad.mit.edu	37	11	88300589	88300589	+	Nonsense_Mutation	SNP	G	G	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr11:88300589G>T	ENST00000305447.4	-	7	2411	c.2262C>A	c.(2260-2262)tgC>tgA	p.C754*	GRM5_ENST00000305432.5_Nonsense_Mutation_p.C754*|GRM5_ENST00000418177.2_Nonsense_Mutation_p.C754*|GRM5_ENST00000455756.2_Nonsense_Mutation_p.C754*|GRM5_ENST00000393297.1_Nonsense_Mutation_p.C754*	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	754					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.C754*(2)		NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	CATAGAAGGTGCAGCTCAAAA	0.443																																							uc001pcq.2		NA																	2	Substitution - Nonsense(2)		lung(2)	central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9						c.(2260-2262)TGC>TGA		glutamate receptor, metabotropic 5 isoform a	Acamprosate(DB00659)						170.0	142.0	152.0					11																	88300589		2201	4299	6500	SO:0001587	stop_gained	2915				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr11:88300589G>T	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.2262C>A	11.37:g.88300589G>T	ENSP00000306138:p.Cys754*					GRM5_uc009yvm.2_Nonsense_Mutation_p.C754*	p.C754*	NM_001143831	NP_001137303	P41594	GRM5_HUMAN			7	2462	-		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	754			Helical; Name=5; (Potential).		Q6J164	Nonsense_Mutation	SNP	ENST00000305447.4	37	c.2262C>A	CCDS44694.1	.	.	.	.	.	.	.	.	.	.	G	38	7.041840	0.98021	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297	.	.	.	5.58	-3.52	0.04682	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.0493	0.58946	0.4483:0.0:0.5517:0.0	.	.	.	.	X	754	.	.	C	-	3	2	GRM5	87940237	1.000000	0.71417	0.978000	0.43139	0.985000	0.73830	0.873000	0.28052	-0.523000	0.06409	-0.258000	0.10820	TGC		0.443	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842		70	125	1	0	2.26907e-38	0.01441	3.93008e-38	70	125				
FAT3	120114	broad.mit.edu	37	11	92613965	92613965	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr11:92613965C>T	ENST00000298047.6	+	22	12213	c.12196C>T	c.(12196-12198)Cca>Tca	p.P4066S	FAT3_ENST00000525166.1_Missense_Mutation_p.P3916S|FAT3_ENST00000409404.2_Missense_Mutation_p.P4066S|FAT3_ENST00000533797.1_Missense_Mutation_p.P401S			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4066	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P4066S(2)|p.P641S(1)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGCCTGCTTCCCAAACCCCTG	0.493										TCGA Ovarian(4;0.039)																													uc001pdj.3		NA																	3	Substitution - Missense(3)		lung(3)	ovary(4)|pancreas(1)	5						c.(12196-12198)CCA>TCA		FAT tumor suppressor homolog 3							183.0	186.0	185.0					11																	92613965		1931	4122	6053	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92613965C>T	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.12196C>T	11.37:g.92613965C>T	ENSP00000298047:p.Pro4066Ser	TCGA Ovarian(4;0.039)				FAT3_uc001pdi.3_Missense_Mutation_p.P506S	p.P4066S	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			22	12213	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	4066			EGF-like 3.|Extracellular (Potential).		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.12196C>T		.	.	.	.	.	.	.	.	.	.	C	12.66	2.004601	0.35320	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166;ENST00000533797	D;D;D;D	0.87103	-2.21;-2.21;-2.21;-2.21	6.16	6.16	0.99307	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.87398	0.6167	N	0.16862	0.45	0.80722	D	1	D;B	0.89917	1.0;0.02	D;B	0.91635	0.999;0.014	T	0.79586	-0.1742	9	0.02654	T	1	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	4066;4066	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	S	4066;4066;3916;401	ENSP00000298047:P4066S;ENSP00000387040:P4066S;ENSP00000432586:P3916S;ENSP00000436399:P401S	ENSP00000298047:P4066S	P	+	1	0	FAT3	92253613	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.726000	0.54977	2.937000	0.99478	0.650000	0.86243	CCA		0.493	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		85	166	0	0	0	0.01441	0	85	166				
MTMR2	8898	broad.mit.edu	37	11	95583771	95583771	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr11:95583771C>T	ENST00000346299.5	-	8	1137	c.797G>A	c.(796-798)cGt>cAt	p.R266H	MTMR2_ENST00000409459.1_Missense_Mutation_p.R194H|MTMR2_ENST00000352297.7_Missense_Mutation_p.R194H|MTMR2_ENST00000393223.3_Missense_Mutation_p.R194H|MTMR2_ENST00000484818.1_5'Flank	NM_016156.5	NP_057240.3	Q13614	MTMR2_HUMAN	myotubularin related protein 2	266	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				cell death (GO:0008219)|dendritic spine maintenance (GO:0097062)|inositol phosphate dephosphorylation (GO:0046855)|myelin assembly (GO:0032288)|negative regulation of endocytosis (GO:0045806)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of myelination (GO:0031642)|negative regulation of receptor catabolic process (GO:2000645)|negative regulation of receptor internalization (GO:0002091)|neuron development (GO:0048666)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of early endosome to late endosome transport (GO:2000643)|protein dephosphorylation (GO:0006470)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endosome (GO:0005768)|neuronal postsynaptic density (GO:0097481)|nucleus (GO:0005634)|synaptic membrane (GO:0097060)|synaptic vesicle (GO:0008021)|vacuolar membrane (GO:0005774)	phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.R194H(1)|p.R266H(1)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TACTGGGATACGGCCTCTTGA	0.408																																							uc001pfu.2		NA																	2	Substitution - Missense(2)		lung(2)	pancreas(1)	1						c.(796-798)CGT>CAT		myotubularin-related protein 2 isoform 1							150.0	141.0	144.0					11																	95583771		2201	4298	6499	SO:0001583	missense	8898					nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr11:95583771C>T	U58033	CCDS8305.1, CCDS8306.1	11q22	2014-09-17			ENSG00000087053	ENSG00000087053		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7450	protein-coding gene	gene with protein product		603557		CMT4B		8640223, 9736772	Standard	NM_016156		Approved	KIAA1073	uc001pfu.3	Q13614	OTTHUMG00000153837	ENST00000346299.5:c.797G>A	11.37:g.95583771C>T	ENSP00000345752:p.Arg266His					MTMR2_uc001pfv.2_Missense_Mutation_p.R194H|MTMR2_uc001pfs.2_Missense_Mutation_p.R194H|MTMR2_uc001pft.2_Missense_Mutation_p.R194H|MTMR2_uc010ruj.1_Missense_Mutation_p.R249H	p.R266H	NM_016156	NP_057240	Q13614	MTMR2_HUMAN			8	1050	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	266			Myotubularin phosphatase.		A6NN98|Q9UPS9	Missense_Mutation	SNP	ENST00000346299.5	37	c.797G>A	CCDS8305.1	.	.	.	.	.	.	.	.	.	.	C	33	5.233930	0.95207	.	.	ENSG00000087053	ENST00000346299;ENST00000393223;ENST00000409459;ENST00000352297;ENST00000444541;ENST00000546018	D;D;D;D;D	0.98164	-4.76;-4.76;-4.76;-4.76;-4.76	5.12	5.12	0.69794	Myotubularin phosphatase domain (1);Myotubularin-related (1);	0.000000	0.85682	D	0.000000	D	0.99542	0.9836	H	0.99642	4.675	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.97562	1.0099	10	0.87932	D	0	.	18.9106	0.92483	0.0:1.0:0.0:0.0	.	266;266	A8K5G2;Q13614	.;MTMR2_HUMAN	H	266;194;194;194;194;249	ENSP00000345752:R266H;ENSP00000376915:R194H;ENSP00000386882:R194H;ENSP00000343737:R194H;ENSP00000396020:R194H	ENSP00000345752:R266H	R	-	2	0	MTMR2	95223419	1.000000	0.71417	0.954000	0.39281	0.941000	0.58515	7.379000	0.79691	2.531000	0.85337	0.655000	0.94253	CGT		0.408	MTMR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332620.1	NM_016156		28	119	0	0	0	0.00632	0	28	119				
CD4	920	broad.mit.edu	37	12	6909341	6909341	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr12:6909341G>T	ENST00000011653.4	+	2	295	c.37G>T	c.(37-39)Gtg>Ttg	p.V13L	CD4_ENST00000538827.1_Intron|CD4_ENST00000541982.1_Missense_Mutation_p.V13L	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	13					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cytokine production (GO:0001816)|defense response to Gram-negative bacterium (GO:0050829)|entry into host cell (GO:0030260)|enzyme linked receptor protein signaling pathway (GO:0007167)|immune response (GO:0006955)|induction by virus of host cell-cell fusion (GO:0006948)|innate immune response (GO:0045087)|maintenance of protein location in cell (GO:0032507)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase activity (GO:0045860)|protein palmitoleylation (GO:0045234)|regulation of defense response to virus by virus (GO:0050690)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|T cell selection (GO:0045058)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|enzyme binding (GO:0019899)|extracellular matrix structural constituent (GO:0005201)|glycoprotein binding (GO:0001948)|MHC class II protein binding (GO:0042289)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|zinc ion binding (GO:0008270)	p.V13L(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)			Antithymocyte globulin(DB00098)	CTTGCTTCTGGTGCTGCAACT	0.597																																							uc001qqv.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(37-39)GTG>TTG		CD4 antigen precursor							77.0	71.0	73.0					12																	6909341		2203	4300	6503	SO:0001583	missense	920				cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding	g.chr12:6909341G>T	M35160	CCDS8562.1	12p13.31	2013-01-11	2006-03-28		ENSG00000010610	ENSG00000010610		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	1678	protein-coding gene	gene with protein product		186940	"""CD4 antigen (p55)"", ""T-cell surface glycoprotein CD4"""				Standard	NM_000616		Approved		uc001qqv.2	P01730	OTTHUMG00000168514	ENST00000011653.4:c.37G>T	12.37:g.6909341G>T	ENSP00000011653:p.Val13Leu					CD4_uc009zez.1_Missense_Mutation_p.V13L|CD4_uc009zfa.1_Intron|CD4_uc009zfb.1_Intron|CD4_uc010sfj.1_Intron|CD4_uc009zfc.1_Intron|CD4_uc010sfk.1_Intron|CD4_uc010sfl.1_Intron	p.V13L	NM_000616	NP_000607	P01730	CD4_HUMAN			2	282	+		Myeloproliferative disorder(1001;0.0122)	13					B2R737|D3DUS5|Q4ZGK2|Q5U066|Q9UDE5	Missense_Mutation	SNP	ENST00000011653.4	37	c.37G>T	CCDS8562.1	.	.	.	.	.	.	.	.	.	.	G	10.01	1.234588	0.22626	.	.	ENSG00000010610	ENST00000011653;ENST00000541982;ENST00000539492	T;T	0.52295	1.96;0.67	4.0	-1.63	0.08345	.	0.617174	0.13365	N	0.393389	T	0.29190	0.0726	L	0.37800	1.135	0.09310	N	0.999991	B;B	0.14438	0.01;0.006	B;B	0.14023	0.01;0.007	T	0.26467	-1.0102	10	0.13470	T	0.59	3.3978	6.0967	0.20025	0.1968:0.4748:0.3284:0.0	.	13;13	F5H480;P01730	.;CD4_HUMAN	L	13	ENSP00000011653:V13L;ENSP00000445167:V13L	ENSP00000011653:V13L	V	+	1	0	CD4	6779602	0.989000	0.36119	0.707000	0.30419	0.848000	0.48234	-0.009000	0.12765	-0.464000	0.06963	0.462000	0.41574	GTG		0.597	CD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399978.1	NM_000616		14	96	1	0	0.00074312	0.006122	0.000787707	14	96				
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	A	rs121913530		TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr12:25398285C>A	ENST00000256078.4	-	2	97	c.34G>T	c.(34-36)Ggt>Tgt	p.G12C	KRAS_ENST00000556131.1_Missense_Mutation_p.G12C|KRAS_ENST00000557334.1_Missense_Mutation_p.G12C|KRAS_ENST00000311936.3_Missense_Mutation_p.G12C	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	uc001rgp.1	G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12C(CALU1_LUNG)|G12C(NCIH2030_LUNG)|G12C(LU99_LUNG)|G12C(NCIH1792_LUNG)|G12R(KP2_PANCREAS)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(NCIH2122_LUNG)|G12C(NCIH358_LUNG)|G12R(PSN1_PANCREAS)|G12C(KYSE410_OESOPHAGUS)|G12S(A549_LUNG)|G12R(HUPT3_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12C(HCC44_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(SW1463_LARGE_INTESTINE)|G12C(NCIH23_LUNG)|G12C(LU65_LUNG)|G12C(NCIH1373_LUNG)|G12C(MIAPACA2_PANCREAS)|G12R(HS274T_BREAST)|G12S(LS123_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(OV56_OVARY)|G12C(IALM_LUNG)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			pancreatic|colorectal|lung|thyroid|AML|others		5144	Substitution - Missense(5142)|Insertion - In frame(2)	p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12G(6)|p.G12N(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1)	large_intestine(2360)|lung(1649)|pancreas(656)|biliary_tract(125)|ovary(56)|endometrium(54)|haematopoietic_and_lymphoid_tissue(49)|thyroid(42)|stomach(21)|cervix(19)|upper_aerodigestive_tract(17)|urinary_tract(17)|soft_tissue(15)|small_intestine(13)|prostate(11)|breast(9)|skin(8)|testis(7)|liver(6)|oesophagus(3)|peritoneum(1)|autonomic_ganglia(1)|kidney(1)|central_nervous_system(1)|NS(1)|penis(1)|adrenal_gland(1)	large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1)	21052	GRCh37	CM076251	KRAS	M	rs121913530	c.(34-36)GGT>TGT		c-K-ras2 protein isoform a precursor							93.0	83.0	86.0					12																	25398285		2203	4300	6503	SO:0001583	missense	3845	Cardiofaciocutaneous_syndrome|Noonan_syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398285C>A	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.34G>T	12.37:g.25398285C>A	ENSP00000256078:p.Gly12Cys	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_uc001rgq.1_Missense_Mutation_p.G12C|KRAS_uc001rgr.2_RNA	p.G12C	NM_033360	NP_203524	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	215	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).	GTP.		A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.34G>T	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.676185	0.88445	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90466	0.7014	M	0.90650	3.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	D	0.91833	0.5477	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	C	12	ENSP00000308495:G12C;ENSP00000452512:G12C;ENSP00000256078:G12C;ENSP00000451856:G12C	ENSP00000256078:G12C	G	-	1	0	KRAS	25289552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		7	23	1	0	7.48243e-07	0.006214	8.85198e-07	7	23				
SSPN	8082	broad.mit.edu	37	12	26377286	26377286	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr12:26377286C>T	ENST00000242729.2	+	2	517	c.340C>T	c.(340-342)Cgg>Tgg	p.R114W	RP11-283G6.4_ENST00000540392.1_RNA|SSPN_ENST00000540266.1_Missense_Mutation_p.R11W|SSPN_ENST00000422622.2_Missense_Mutation_p.R11W|SSPN_ENST00000535504.1_Missense_Mutation_p.R114W	NM_005086.4	NP_005077.2	Q14714	SSPN_HUMAN	sarcospan	114					cell adhesion (GO:0007155)|muscle contraction (GO:0006936)	cell junction (GO:0030054)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|transport vesicle (GO:0030133)		p.R114W(1)		kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10	Colorectal(261;0.0847)					GGTTGACGAACGGACATGTAT	0.378																																							uc001rhe.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(340-342)CGG>TGG		sarcospan isoform 1							378.0	350.0	360.0					12																	26377286		2203	4300	6503	SO:0001583	missense	8082				cell adhesion|muscle contraction	cell junction|dystrophin-associated glycoprotein complex|integral to plasma membrane|postsynaptic membrane|sarcolemma|transport vesicle		g.chr12:26377286C>T	AF016028	CCDS8707.1, CCDS44850.1	12p11.2	2014-09-17	2012-03-14			ENSG00000123096			11322	protein-coding gene	gene with protein product		601599	"""Kras oncogene-associated gene"""	KRAG		9395445, 8661122	Standard	NM_005086		Approved	SPN1, SPN2	uc001rhe.3	Q14714		ENST00000242729.2:c.340C>T	12.37:g.26377286C>T	ENSP00000242729:p.Arg114Trp					SSPN_uc001rhd.2_Missense_Mutation_p.R11W|SSPN_uc009zjf.2_Missense_Mutation_p.R114W|SSPN_uc001rhf.3_Intron	p.R114W	NM_005086	NP_005077	Q14714	SSPN_HUMAN			2	440	+	Colorectal(261;0.0847)		114			Cytoplasmic (Potential).		B3KS67	Missense_Mutation	SNP	ENST00000242729.2	37	c.340C>T	CCDS8707.1	.	.	.	.	.	.	.	.	.	.	C	15.03	2.710836	0.48517	.	.	ENSG00000123096	ENST00000538142;ENST00000540266;ENST00000422622;ENST00000242729;ENST00000441067;ENST00000535504	T;T;T;T	0.51817	0.69;1.26;1.26;4.4	5.24	3.07	0.35406	.	0.232306	0.45867	D	0.000322	T	0.54111	0.1838	L	0.46157	1.445	0.46376	D	0.999018	D;D	0.71674	0.998;0.998	P;P	0.57846	0.809;0.828	T	0.57888	-0.7733	10	0.72032	D	0.01	-12.5692	11.7865	0.52045	0.5844:0.4156:0.0:0.0	.	114;114	F5H0K2;Q14714	.;SSPN_HUMAN	W	11;11;11;114;88;114	ENSP00000445360:R11W;ENSP00000442893:R11W;ENSP00000396087:R11W;ENSP00000242729:R114W	ENSP00000242729:R114W	R	+	1	2	SSPN	26268553	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	2.047000	0.41269	1.129000	0.42072	0.655000	0.94253	CGG		0.378	SSPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402654.2	NM_005086		17	513	0	0	0	0.006122	0	17	513				
ITPR2	3709	broad.mit.edu	37	12	26596496	26596496	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr12:26596496T>A	ENST00000381340.3	-	46	6846	c.6430A>T	c.(6430-6432)Aac>Tac	p.N2144Y		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2144					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)	p.N2144Y(1)	ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	GCAGTGTGGTTGGCATAATAC	0.393																																							uc001rhg.2		NA																	1	Substitution - Missense(1)		lung(1)	kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14						c.(6430-6432)AAC>TAC		inositol 1,4,5-triphosphate receptor, type 2							192.0	188.0	189.0					12																	26596496		1928	4119	6047	SO:0001583	missense	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26596496T>A	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.6430A>T	12.37:g.26596496T>A	ENSP00000370744:p.Asn2144Tyr					ITPR2_uc009zjg.1_Missense_Mutation_p.N295Y	p.N2144Y	NM_002223	NP_002214	Q14571	ITPR2_HUMAN			46	6847	-	Colorectal(261;0.0847)		2144			Cytoplasmic (Potential).		O94773	Missense_Mutation	SNP	ENST00000381340.3	37	c.6430A>T	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.150851	0.78001	.	.	ENSG00000123104	ENST00000381340	D	0.91843	-2.92	4.87	4.87	0.63330	.	0.100029	0.64402	D	0.000003	D	0.92734	0.7690	L	0.46157	1.445	0.80722	D	1	P	0.43973	0.823	P	0.52710	0.707	D	0.93533	0.6871	10	0.72032	D	0.01	.	14.9387	0.70978	0.0:0.0:0.0:1.0	.	2144	Q14571	ITPR2_HUMAN	Y	2144	ENSP00000370744:N2144Y	ENSP00000370744:N2144Y	N	-	1	0	ITPR2	26487763	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.856000	0.69518	2.175000	0.68902	0.533000	0.62120	AAC		0.393	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		27	58	0	0	0	0.015359	0	27	58				
PIP4K2C	79837	broad.mit.edu	37	12	57995329	57995329	+	Silent	SNP	T	T	C			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr12:57995329T>C	ENST00000354947.5	+	10	1222	c.1206T>C	c.(1204-1206)acT>acC	p.T402T	PIP4K2C_ENST00000422156.3_Silent_p.T354T|PIP4K2C_ENST00000540759.2_Silent_p.T402T|PIP4K2C_ENST00000550465.1_Silent_p.T384T			Q8TBX8	PI42C_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, gamma	402	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)|identical protein binding (GO:0042802)	p.T402T(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Melanoma(17;0.122)					AGATCTCTACTGTCCATCCGG	0.532																																							uc001sou.2		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|lung(1)	3						c.(1204-1206)ACT>ACC		phosphatidylinositol-5-phosphate 4-kinase, type							218.0	191.0	200.0					12																	57995329		2203	4300	6503	SO:0001819	synonymous_variant	79837					cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding	g.chr12:57995329T>C	AK125526	CCDS8946.1, CCDS53808.1, CCDS55839.1	12q13.3	2014-09-04	2007-08-14	2007-08-14	ENSG00000166908	ENSG00000166908			23786	protein-coding gene	gene with protein product			"""phosphatidylinositol-4-phosphate 5-kinase, type II, gamma"""	PIP5K2C		9367159	Standard	NM_024779		Approved	FLJ22055	uc001sot.3	Q8TBX8	OTTHUMG00000170144	ENST00000354947.5:c.1206T>C	12.37:g.57995329T>C						PIP4K2C_uc001sot.2_Silent_p.T402T|PIP4K2C_uc010srs.1_Silent_p.T384T|PIP4K2C_uc010srt.1_Silent_p.T354T	p.T402T	NM_001146258	NP_001139730	Q8TBX8	PI42C_HUMAN			10	1337	+	Melanoma(17;0.122)		402			PIPK.		B2RDL3|B4DM11|B4DY44|Q9H6N2	Silent	SNP	ENST00000354947.5	37	c.1206T>C	CCDS8946.1																																																																																				0.532	PIP4K2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407644.1	NM_024779		35	151	0	0	0	0.005524	0	35	151				
HMGA2	8091	broad.mit.edu	37	12	66221790	66221790	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr12:66221790G>T	ENST00000403681.2	+	2	1261	c.121G>T	c.(121-123)Ggt>Tgt	p.G41C	HMGA2_ENST00000393578.3_Missense_Mutation_p.G41C|HMGA2_ENST00000393577.3_Missense_Mutation_p.G41C|RPSAP52_ENST00000489520.2_RNA|HMGA2_ENST00000425208.2_Missense_Mutation_p.G41C|HMGA2_ENST00000536545.1_Missense_Mutation_p.G41C|HMGA2_ENST00000541363.1_Missense_Mutation_p.G41C|HMGA2_ENST00000354636.3_Missense_Mutation_p.G41C	NM_003483.4	NP_003474.1	P52926	HMGA2_HUMAN	high mobility group AT-hook 2	41					adrenal gland development (GO:0030325)|base-excision repair (GO:0006284)|cell proliferation in forebrain (GO:0021846)|chondrocyte differentiation (GO:0002062)|chondrocyte proliferation (GO:0035988)|chromatin organization (GO:0006325)|chromosome breakage (GO:0031052)|chromosome condensation (GO:0030261)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA damage response, detection of DNA damage (GO:0042769)|endodermal cell differentiation (GO:0035987)|epithelial to mesenchymal transition (GO:0001837)|fat cell differentiation (GO:0045444)|fat pad development (GO:0060613)|heterochromatin assembly (GO:0031507)|histone H2A-S139 phosphorylation (GO:0035978)|male gonad development (GO:0008584)|mesenchymal cell differentiation (GO:0048762)|mesodermal cell differentiation (GO:0048333)|mesodermal-endodermal cell signaling (GO:0003131)|mitotic G2 DNA damage checkpoint (GO:0007095)|mitotic nuclear division (GO:0007067)|multicellular organismal development (GO:0007275)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of apoptotic process (GO:0043066)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of DNA binding (GO:0043392)|negative regulation of double-strand break repair via nonhomologous end joining (GO:2001033)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|oncogene-induced cell senescence (GO:0090402)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of cellular response to X-ray (GO:2000685)|positive regulation of cellular senescence (GO:2000774)|positive regulation of gene expression (GO:0010628)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle process (GO:0010564)|regulation of cellular response to drug (GO:2001038)|regulation of growth hormone secretion (GO:0060123)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|senescence-associated heterochromatin focus assembly (GO:0035986)|signal transduction (GO:0007165)|somatic stem cell maintenance (GO:0035019)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)	nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|senescence-associated heterochromatin focus (GO:0035985)|SMAD protein complex (GO:0071141)	5'-deoxyribose-5-phosphate lyase activity (GO:0051575)|AT DNA binding (GO:0003680)|C2H2 zinc finger domain binding (GO:0070742)|cAMP response element binding (GO:0035497)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|DNA-dependent protein kinase activity (GO:0004677)|MH1 domain binding (GO:0035501)|MH2 domain binding (GO:0035500)|nucleosomal DNA binding (GO:0031492)|regulatory region DNA binding (GO:0000975)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)	p.G41C(2)	HMGA2/RAD51B(11)|HMGA2/CCNB1IP1(2)|HMGA2/WIF1_ENST00000286574(14)|HMGA2/ALDH2_ENST00000261733(2)|HMGA2/EBF1(2)|HMGA2/LHFP(2)|HMGA2/NFIB_ENST00000397581(8)|HMGA2/LPP(161)|HMGA2/FHIT_ENST00000476844(4)|HMGA2/COX6C(2)	lung(2)	2	all_cancers(1;5.78e-46)		GBM - Glioblastoma multiforme(1;0.00179)|LUSC - Lung squamous cell carcinoma(43;0.156)	GBM - Glioblastoma multiforme(28;0.0386)		GGAACCAACCGGTGAGCCCTC	0.448			T	""" LHFP, RAD51L1, LPP, COX6C, CMKOR1, NFIB, ALDH2, CCNB1IP1, EBF1, WIF1, FHIT"""	"""lipoma, leiomyoma, pleiomorphic salivary gland adenoma"""																																		uc001ssx.2		NA		Dom	yes		12	12q15	8091	T	high mobility group AT-hook 2 (HMGIC)			M	LHFP|RAD51L1|LPP|HEI10|COX6C|CMKOR1|NFIB|ALDH2|CCNB1IP1|EBF1|WIF1|FHIT		lipoma|leiomyoma|pleiomorphic salivary gland adenoma	HMGA2/LPP(161)|HMGA2/WIF1_ENST00000286574(14)|HMGA2/RAD51B(11)|HMGA2/NFIB_ENST00000397581(8)|HMGA2/FHIT_ENST00000476844(4)|HMGA2/CCNB1IP1(2)|HMGA2/ALDH2_ENST00000261733(2)|HMGA2/EBF1(2)|HMGA2/LHFP(2)|HMGA2/COX6C(2)	2	Substitution - Missense(2)		lung(2)	soft_tissue(159)|bone(27)|salivary_gland(22)	208						c.(121-123)GGT>TGT		high mobility group AT-hook 2 isoform a							80.0	87.0	85.0					12																	66221790		2203	4300	6503	SO:0001583	missense	8091				cell division|chromatin organization|mitosis|multicellular organismal development|regulation of growth|transcription, DNA-dependent	chromatin	AT DNA binding	g.chr12:66221790G>T	U28754	CCDS31854.1, CCDS44936.1, CCDS73491.1, CCDS73492.1	12q15	2011-07-01	2002-07-25	2002-07-26	ENSG00000149948	ENSG00000149948		"""High-mobility group / Canonical"""	5009	protein-coding gene	gene with protein product		600698	"""high-mobility group (nonhistone chromosomal) protein isoform I-C"""	HMGIC		8824803, 9003504	Standard	XM_006719620		Approved	BABL, LIPO	uc001ssx.3	P52926	OTTHUMG00000168936	ENST00000403681.2:c.121G>T	12.37:g.66221790G>T	ENSP00000384026:p.Gly41Cys					RPSAP52_uc001sso.2_5'Flank|HMGA2_uc001ssw.1_Missense_Mutation_p.G41C|HMGA2_uc001ssp.1_RNA|HMGA2_uc010ssv.1_RNA|HMGA2_uc001sss.1_RNA|HMGA2_uc001sst.1_Missense_Mutation_p.G41C|HMGA2_uc001ssu.1_Missense_Mutation_p.G41C|HMGA2_uc001ssv.2_Missense_Mutation_p.G41C	p.G41C	NM_003483	NP_003474	P52926	HMGA2_HUMAN	GBM - Glioblastoma multiforme(1;0.00179)|LUSC - Lung squamous cell carcinoma(43;0.156)	GBM - Glioblastoma multiforme(28;0.0386)	2	932	+	all_cancers(1;5.78e-46)		41					E7EP85|E7EWA2|Q1M182|Q1M185|Q1M186|Q1M187|Q1M188	Missense_Mutation	SNP	ENST00000403681.2	37	c.121G>T	CCDS44936.1	.	.	.	.	.	.	.	.	.	.	G	5.677	0.309438	0.10733	.	.	ENSG00000149948	ENST00000403681;ENST00000354636;ENST00000393578;ENST00000536545;ENST00000425208;ENST00000541363;ENST00000393577	T;T;T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94;0.94;0.94	5.17	3.2	0.36748	.	0.209202	0.38959	N	0.001517	T	0.34395	0.0896	L	0.48642	1.525	0.34239	D	0.677438	B;B;B;B;B	0.33739	0.015;0.002;0.004;0.422;0.009	B;B;B;B;B	0.30646	0.005;0.001;0.006;0.118;0.005	T	0.43015	-0.9417	9	.	.	.	6.8545	13.5033	0.61469	0.0:0.0:0.6412:0.3588	.	41;41;41;41;41	P52926;F5H2U8;Q1M182;F5H6H0;Q1M186	HMGA2_HUMAN;.;.;.;.	C	41	ENSP00000384026:G41C;ENSP00000346658:G41C;ENSP00000377206:G41C;ENSP00000437621:G41C;ENSP00000407306:G41C;ENSP00000439317:G41C;ENSP00000377205:G41C	.	G	+	1	0	HMGA2	64508057	1.000000	0.71417	0.829000	0.32907	0.368000	0.29767	4.685000	0.61693	0.547000	0.28938	-0.175000	0.13238	GGT		0.448	HMGA2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000401654.1	NM_003483		16	86	1	0	3.52763e-06	0.00499	4.08219e-06	16	86				
GLIPR1	11010	broad.mit.edu	37	12	75875665	75875665	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr12:75875665C>A	ENST00000266659.3	+	2	427	c.226C>A	c.(226-228)Cag>Aag	p.Q76K	RP11-585P4.5_ENST00000547326.1_RNA	NM_006851.2	NP_006842.2	P48060	GLIP1_HUMAN	GLI pathogenesis-related 1	76	SCP.				cellular lipid metabolic process (GO:0044255)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.Q76K(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	14						CAGCAATTGCCAGTTTTCACA	0.463																																							uc001sxs.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|skin(1)	3						c.(226-228)CAG>AAG		GLI pathogenesis-related 1 precursor							123.0	116.0	118.0					12																	75875665		2203	4300	6503	SO:0001583	missense	11010				cellular lipid metabolic process	extracellular region|integral to membrane		g.chr12:75875665C>A	U16307	CCDS9011.1	12q14.1	2008-08-15	2008-08-15			ENSG00000139278			17001	protein-coding gene	gene with protein product		602692	"""GLI pathogenesis-related 1 (glioma)"""			7607567, 8973356	Standard	NM_006851		Approved	RTVP1, GliPR	uc001sxs.3	P48060	OTTHUMG00000169757	ENST00000266659.3:c.226C>A	12.37:g.75875665C>A	ENSP00000266659:p.Gln76Lys					GLIPR1_uc009zsb.1_Missense_Mutation_p.Q76K	p.Q76K	NM_006851	NP_006842	P48060	GLIP1_HUMAN			2	374	+			76					A7YET6|F8VUC2|Q15409|Q969K2	Missense_Mutation	SNP	ENST00000266659.3	37	c.226C>A	CCDS9011.1	.	.	.	.	.	.	.	.	.	.	C	6.294	0.422415	0.11928	.	.	ENSG00000139278	ENST00000266659;ENST00000456650	T;T	0.07908	3.15;3.15	5.9	-3.18	0.05186	CAP domain (3);	1.502070	0.03852	N	0.272476	T	0.04318	0.0119	N	0.17872	0.535	0.09310	N	1	B;B	0.10296	0.003;0.002	B;B	0.10450	0.001;0.005	T	0.35798	-0.9774	10	0.06365	T	0.9	.	3.9101	0.09199	0.2353:0.2365:0.4047:0.1235	.	76;76	F6VVE8;P48060	.;GLIP1_HUMAN	K	76	ENSP00000266659:Q76K;ENSP00000391144:Q76K	ENSP00000266659:Q76K	Q	+	1	0	GLIPR1	74161932	0.000000	0.05858	0.040000	0.18447	0.004000	0.04260	-2.212000	0.01225	-0.398000	0.07679	-0.136000	0.14681	CAG		0.463	GLIPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405722.1	NM_006851		71	154	1	0	2.18329e-32	0.01441	3.63881e-32	71	154				
NAV3	89795	broad.mit.edu	37	12	78400364	78400364	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr12:78400364C>A	ENST00000397909.2	+	8	1219	c.1046C>A	c.(1045-1047)aCt>aAt	p.T349N	NAV3_ENST00000266692.7_Missense_Mutation_p.T349N|NAV3_ENST00000536525.2_Missense_Mutation_p.T349N|NAV3_ENST00000228327.6_Missense_Mutation_p.T349N			Q8IVL0	NAV3_HUMAN	neuron navigator 3	349						membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.T349N(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ACCATGTTGACTGTAAAGCAG	0.557										HNSCC(70;0.22)																													uc001syp.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.(1045-1047)ACT>AAT		neuron navigator 3							59.0	62.0	61.0					12																	78400364		2092	4213	6305	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78400364C>A	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.1046C>A	12.37:g.78400364C>A	ENSP00000381007:p.Thr349Asn	HNSCC(70;0.22)				NAV3_uc001syo.2_Missense_Mutation_p.T349N	p.T349N	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			8	1219	+			349					Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.1046C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.71|10.71	1.426751|1.426751	0.25726|0.25726	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000550503|ENST00000549464;ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	.|T;T;T;T;T	.|0.43294	.|0.95;0.95;0.95;0.95;0.95	5.61|5.61	3.73|3.73	0.42828|0.42828	.|.	.|0.395446	.|0.17790	.|U	.|0.161916	T|T	0.31389|0.31389	0.0795|0.0795	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	D|D	1|1	.|B;B	.|0.22983	.|0.03;0.078	.|B;B	.|0.27380	.|0.027;0.079	T|T	0.10776|0.10776	-1.0615|-1.0615	5|10	.|0.72032	.|D	.|0.01	-2.1987|-2.1987	15.9463|15.9463	0.79796|0.79796	0.0:0.7257:0.2742:0.0|0.0:0.7257:0.2742:0.0	.|.	.|349;349	.|Q8IVL0;Q8IVL0-2	.|NAV3_HUMAN;.	E|N	172|349	.|ENSP00000446628:T349N;ENSP00000446132:T349N;ENSP00000381007:T349N;ENSP00000228327:T349N;ENSP00000266692:T349N	.|ENSP00000228327:T349N	D|T	+|+	3|2	2|0	NAV3|NAV3	76924495|76924495	0.987000|0.987000	0.35691|0.35691	0.234000|0.234000	0.24042|0.24042	0.155000|0.155000	0.21991|0.21991	2.775000|2.775000	0.47702|0.47702	0.684000|0.684000	0.31448|0.31448	-0.311000|-0.311000	0.09066|0.09066	GAC|ACT		0.557	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		28	58	1	0	4.59853e-10	0.005443	5.91558e-10	28	58				
BTBD11	121551	broad.mit.edu	37	12	107914364	107914364	+	Silent	SNP	C	C	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr12:107914364C>A	ENST00000280758.5	+	2	1764	c.1236C>A	c.(1234-1236)acC>acA	p.T412T	BTBD11_ENST00000490090.2_Silent_p.T412T|BTBD11_ENST00000420571.2_Silent_p.T412T	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	412						integral component of membrane (GO:0016021)		p.T412T(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						AGCTGAGGACCATCGAGCAGT	0.557																																							uc001tmk.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)	3						c.(1234-1236)ACC>ACA		BTB (POZ) domain containing 11 isoform a							140.0	125.0	130.0					12																	107914364		2203	4300	6503	SO:0001819	synonymous_variant	121551					integral to membrane	DNA binding	g.chr12:107914364C>A	AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.1236C>A	12.37:g.107914364C>A						BTBD11_uc009zut.1_Silent_p.T412T|BTBD11_uc001tmj.2_Silent_p.T412T	p.T412T	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN			2	1757	+			412					A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Silent	SNP	ENST00000280758.5	37	c.1236C>A	CCDS31893.1																																																																																				0.557	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318003.1	NM_152322		14	94	1	0	3.41278e-10	0.00499	4.41165e-10	14	94				
KL	9365	broad.mit.edu	37	13	33635122	33635122	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr13:33635122G>A	ENST00000380099.3	+	4	1914	c.1906G>A	c.(1906-1908)Gcc>Acc	p.A636T	KL_ENST00000426690.2_3'UTR|KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	636	Glycosyl hydrolase-1 2.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|calcium ion homeostasis (GO:0055074)|carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-glucosidase activity (GO:0008422)|beta-glucuronidase activity (GO:0004566)|fibroblast growth factor binding (GO:0017134)|signal transducer activity (GO:0004871)|vitamin D binding (GO:0005499)	p.A636T(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		CCCAGTGGTGGCCCTGTGGCA	0.632																																							uc001uus.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|skin(1)	3						c.(1906-1908)GCC>ACC		klotho precursor							59.0	60.0	60.0					13																	33635122		2203	4300	6503	SO:0001583	missense	9365				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding	g.chr13:33635122G>A	AB005142	CCDS9347.1	13q12	2008-02-05			ENSG00000133116	ENSG00000133116			6344	protein-coding gene	gene with protein product		604824				9464267	Standard	NM_004795		Approved		uc001uus.3	Q9UEF7	OTTHUMG00000017408	ENST00000380099.3:c.1906G>A	13.37:g.33635122G>A	ENSP00000369442:p.Ala636Thr					KL_uc001uur.1_3'UTR	p.A636T	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)	4	1914	+	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)	636			Glycosyl hydrolase-1 2.|Extracellular (Potential).		Q5VZ95|Q96KV5|Q96KW5|Q9UEI9|Q9Y4F0	Missense_Mutation	SNP	ENST00000380099.3	37	c.1906G>A	CCDS9347.1	.	.	.	.	.	.	.	.	.	.	G	9.033	0.987672	0.18966	.	.	ENSG00000133116	ENST00000380099	T	0.14144	2.53	5.57	3.77	0.43336	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.153445	0.64402	D	0.000016	T	0.03651	0.0104	N	0.00413	-1.525	0.48185	D	0.999604	B	0.27140	0.169	B	0.31101	0.124	T	0.41088	-0.9528	10	0.02654	T	1	-19.8519	14.508	0.67764	0.0:0.0:0.7319:0.2681	.	636	Q9UEF7	KLOT_HUMAN	T	636	ENSP00000369442:A636T	ENSP00000369442:A636T	A	+	1	0	KL	32533122	1.000000	0.71417	0.998000	0.56505	0.582000	0.36321	4.439000	0.59968	0.659000	0.30945	0.655000	0.94253	GCC		0.632	KL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045987.1			4	36	0	0	0	0.014758	0	4	36				
TRPC4	7223	broad.mit.edu	37	13	38225510	38225510	+	Silent	SNP	G	G	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr13:38225510G>A	ENST00000379705.3	-	8	2828	c.1971C>T	c.(1969-1971)ttC>ttT	p.F657F	TRPC4_ENST00000379679.1_Silent_p.F484F|TRPC4_ENST00000355779.2_Silent_p.F657F|TRPC4_ENST00000358477.2_Silent_p.F657F|TRPC4_ENST00000447043.1_Silent_p.F657F|TRPC4_ENST00000338947.5_Silent_p.F484F|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000379681.3_Silent_p.F657F|TRPC4_ENST00000379673.2_Intron			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	657	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)	p.F657F(2)		NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		GGATGACATTGAAGGGAGTAG	0.433																																							uc001uws.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)|skin(2)|breast(1)	6						c.(1969-1971)TTC>TTT		transient receptor potential cation channel,							139.0	135.0	136.0					13																	38225510		2203	4300	6503	SO:0001819	synonymous_variant	7223				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	g.chr13:38225510G>A	U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.1971C>T	13.37:g.38225510G>A						TRPC4_uc010abv.2_Silent_p.F237F|TRPC4_uc001uwt.2_Silent_p.F657F|TRPC4_uc010tey.1_Silent_p.F657F|TRPC4_uc010abw.2_Silent_p.F484F|TRPC4_uc010abx.2_Silent_p.F657F|TRPC4_uc010aby.2_Intron	p.F657F	NM_016179	NP_057263	Q9UBN4	TRPC4_HUMAN		all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)	8	2206	-			657			Binds to ITPR1, ITPR2 and ITPR3.|Cytoplasmic (Potential).		B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Silent	SNP	ENST00000379705.3	37	c.1971C>T	CCDS9365.1																																																																																				0.433	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306		20	108	0	0	0	0.014323	0	20	108				
KLHL1	57626	broad.mit.edu	37	13	70681814	70681814	+	Silent	SNP	T	T	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr13:70681814T>A	ENST00000377844.4	-	1	777	c.18A>T	c.(16-18)cgA>cgT	p.R6R	ATXN8OS_ENST00000414504.2_RNA|KLHL1_ENST00000545028.1_5'UTR|ATXN8OS_ENST00000424524.1_RNA	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	6					actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)	p.R6R(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		CGAAGTCTTTTCGCCCAGAGC	0.642																																							uc001vip.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(16-18)CGA>CGT		kelch-like 1 protein							19.0	21.0	21.0					13																	70681814		2201	4295	6496	SO:0001819	synonymous_variant	57626				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr13:70681814T>A	AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"""Kelch-like"", ""BTB/POZ domain containing"""	6352	protein-coding gene	gene with protein product	"""Kelch-like protein 1"", ""Mayven-related protein 2"""	605332	"""kelch (Drosophila)-like 1"", ""kelch-like 1 (Drosophila)"""			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.18A>T	13.37:g.70681814T>A						KLHL1_uc010thm.1_Silent_p.R6R|ATXN8OS_uc010aej.1_RNA	p.R6R	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)	1	812	-		Breast(118;0.000162)	6					A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Silent	SNP	ENST00000377844.4	37	c.18A>T	CCDS9445.1																																																																																				0.642	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866		11	21	0	0	0	0.008291	0	11	21				
DACH1	1602	broad.mit.edu	37	13	72134055	72134055	+	Silent	SNP	G	G	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr13:72134055G>A	ENST00000359684.2	-	6	1493	c.1494C>T	c.(1492-1494)ccC>ccT	p.P498P	DACH1_ENST00000305425.4_Silent_p.P446P|DACH1_ENST00000313174.7_Intron|DACH1_ENST00000354591.4_Intron			Q9UI36	DACH1_HUMAN	dachshund family transcription factor 1	498					cell proliferation (GO:0008283)|development of primary female sexual characteristics (GO:0046545)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription by competitive promoter binding (GO:0010944)|respiratory gaseous exchange (GO:0007585)|suckling behavior (GO:0001967)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity involved in preinitiation complex assembly (GO:0001075)	p.P446P(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		CCTCCAGAGAGGGGGCAGGTG	0.542																																							uc010thn.1		NA																	1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(1330-1332)CCC>CCT		dachshund homolog 1 isoform a							28.0	31.0	30.0					13																	72134055		1991	4164	6155	SO:0001819	synonymous_variant	1602				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding	g.chr13:72134055G>A	AJ005670	CCDS41899.1, CCDS53874.1, CCDS53873.1	13q22	2014-02-03	2014-02-03	2004-04-02	ENSG00000165659	ENSG00000276644			2663	protein-coding gene	gene with protein product		603803	"""dachshund homolog (Drosophila)"", ""dachshund homolog 1 (Drosophila)"""	DACH		9933575, 10395809, 15057823	Standard	NM_004392		Approved		uc021rkj.1	Q9UI36	OTTHUMG00000017063	ENST00000359684.2:c.1494C>T	13.37:g.72134055G>A						DACH1_uc010tho.1_Intron|DACH1_uc010thp.1_Intron	p.P444P	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN		GBM - Glioblastoma multiforme(99;0.00032)	6	1755	-		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)	496					D0FY35|D0FY36|O75523|O75687|Q5VYY3|Q5VYY4|Q96SG3|Q96SG4|Q9H524|Q9UMH4	Silent	SNP	ENST00000359684.2	37	c.1332C>T																																																																																					0.542	DACH1-002	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045240.1	NM_004392		11	19	0	0	0	0.008291	0	11	19				
BIVM	54841	broad.mit.edu	37	13	103460022	103460022	+	Silent	SNP	C	C	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr13:103460022C>T	ENST00000257336.1	+	3	1084	c.405C>T	c.(403-405)ggC>ggT	p.G135G	BIVM-ERCC5_ENST00000602836.1_Nonsense_Mutation_p.Q107*|BIVM_ENST00000448849.2_Intron|BIVM_ENST00000419638.1_Silent_p.G135G	NM_017693.3	NP_060163.2	Q86UB2	BIVM_HUMAN	basic, immunoglobulin-like variable motif containing	135						cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)		p.G135G(1)		endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|skin(2)|urinary_tract(1)	25	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					ACAGCCTGGGCAAGCTACCTC	0.393																																							uc001vpu.1		NA								Mis|N|F						skin basal cell|skin squamous cell|melanoma			1	Substitution - coding silent(1)		lung(1)	ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7						c.(403-405)GGC>GGT	Direct_reversal_of_damage|NER	XPG-complementing protein							40.0	42.0	41.0					13																	103460022		2203	4299	6502	SO:0001819	synonymous_variant	2073	Xeroderma_Pigmentosum			negative regulation of apoptosis|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|response to UV-C|transcription-coupled nucleotide-excision repair|UV protection	nucleoplasm	bubble DNA binding|double-stranded DNA binding|endodeoxyribonuclease activity|metal ion binding|protein homodimerization activity|protein N-terminus binding|single-stranded DNA binding	g.chr13:103460022C>T	AF411385	CCDS9505.1, CCDS53879.1	13q33.1	2008-05-14			ENSG00000134897	ENSG00000134897			16034	protein-coding gene	gene with protein product						12036287	Standard	NM_017693		Approved	FLJ20159		Q86UB2	OTTHUMG00000017309	ENST00000257336.1:c.405C>T	13.37:g.103460022C>T						BIVM_uc001vps.2_Silent_p.G135G|BIVM_uc010agc.2_Intron|BIVM_uc001vpt.2_Silent_p.G135G	p.G135G	NM_000123	NP_000114	P28715	ERCC5_HUMAN			1	527	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)		Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					Q2M1J2|Q9NXM4	Silent	SNP	ENST00000257336.1	37	c.405C>T	CCDS9505.1																																																																																				0.393	BIVM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045704.2			9	84	0	0	0	0.004482	0	9	84				
POTEG	404785	broad.mit.edu	37	14	19566042	19566042	+	Silent	SNP	A	A	G			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr14:19566042A>G	ENST00000409832.3	+	6	1138	c.1086A>G	c.(1084-1086)gaA>gaG	p.E362E	RNU6-1239P_ENST00000391310.1_RNA|CTD-2311B13.5_ENST00000548748.1_lincRNA	NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	362								p.E362E(1)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						ACTACAAAGAAAAACAGATGC	0.303																																							uc001vuz.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1084-1086)GAA>GAG		POTE ankyrin domain family, member G							76.0	89.0	84.0					14																	19566042		1508	2693	4201	SO:0001819	synonymous_variant	404785							g.chr14:19566042A>G		CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33896	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 4"""	608916	"""ANKRD26-like family C, member 2"""	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.1086A>G	14.37:g.19566042A>G						POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA|uc001vvb.2_Intron	p.E362E	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN			6	1138	+			362					A1L153|A6NMI9|Q6S5H6|Q6S8J2	Silent	SNP	ENST00000409832.3	37	c.1086A>G	CCDS32018.1																																																																																				0.303	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408579.1	NM_001005356		11	138	0	0	0	0.013537	0	11	138				
LTBP2	4053	broad.mit.edu	37	14	75078524	75078524	+	Nonsense_Mutation	SNP	T	T	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr14:75078524T>A	ENST00000261978.4	-	1	510	c.124A>T	c.(124-126)Aga>Tga	p.R42*	LTBP2_ENST00000557425.1_Intron|CTD-2207P18.2_ENST00000556652.1_lincRNA|LTBP2_ENST00000556690.1_Nonsense_Mutation_p.R42*	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	42					protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.R42*(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GGCTCGTATCTCCCTACGGGG	0.701																																							uc001xqa.2		NA																	1	Substitution - Nonsense(1)		lung(1)	liver(1)|skin(1)	2						c.(124-126)AGA>TGA		latent transforming growth factor beta binding							13.0	16.0	15.0					14																	75078524		2180	4267	6447	SO:0001587	stop_gained	4053				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	g.chr14:75078524T>A		CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"""Latent transforming growth factor, beta binding proteins"""	6715	protein-coding gene	gene with protein product		602091	"""chromosome 14 open reading frame 141"""	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.124A>T	14.37:g.75078524T>A	ENSP00000261978:p.Arg42*						p.R42*	NM_000428	NP_000419	Q14767	LTBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	1	511	-			42					Q99907|Q9NS51	Nonsense_Mutation	SNP	ENST00000261978.4	37	c.124A>T	CCDS9831.1	.	.	.	.	.	.	.	.	.	.	T	40	8.372602	0.98781	.	.	ENSG00000119681	ENST00000261978;ENST00000556690	.	.	.	3.5	2.31	0.28768	.	0.000000	0.41500	D	0.000880	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.4789	0.33030	0.0:0.0:0.1973:0.8027	.	.	.	.	X	42	.	ENSP00000261978:R42X	R	-	1	2	LTBP2	74148277	0.964000	0.33143	0.890000	0.34922	0.843000	0.47879	1.333000	0.33816	0.509000	0.28195	0.379000	0.24179	AGA		0.701	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	NM_000428		4	18	0	0	0	0.001984	0	4	18				
SERPINA11	256394	broad.mit.edu	37	14	94915055	94915055	+	Nonsense_Mutation	SNP	A	A	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr14:94915055A>T	ENST00000334708.3	-	2	121	c.57T>A	c.(55-57)tgT>tgA	p.C19*	RP11-349I1.2_ENST00000536735.1_RNA	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11	19					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.C201*(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		GAAGGGGCTGACAGTGGACAG	0.547																																							uc001ydd.1		NA																	1	Substitution - Nonsense(1)		lung(1)	kidney(1)	1						c.(55-57)TGT>TGA		serpin peptidase inhibitor, clade A (alpha-1							64.0	70.0	68.0					14																	94915055		2202	4299	6501	SO:0001587	stop_gained	256394				regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr14:94915055A>T	BX248259	CCDS32149.1	14q32.13	2014-02-18	2005-08-18		ENSG00000186910	ENSG00000186910		"""Serine (or cysteine) peptidase inhibitors"""	19193	protein-coding gene	gene with protein product			"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11"""			15014966, 24172014	Standard	NM_001080451		Approved		uc001ydd.1	Q86U17	OTTHUMG00000171348	ENST00000334708.3:c.57T>A	14.37:g.94915055A>T	ENSP00000335024:p.Cys19*						p.C19*	NM_001080451	NP_001073920	Q86U17	SPA11_HUMAN		COAD - Colon adenocarcinoma(157;0.211)	2	117	-			19					B2RV07	Nonsense_Mutation	SNP	ENST00000334708.3	37	c.57T>A	CCDS32149.1	.	.	.	.	.	.	.	.	.	.	A	15.07	2.722851	0.48728	.	.	ENSG00000186910	ENST00000334708	.	.	.	4.51	-0.556	0.11803	.	5.295130	0.00166	N	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.1307	0.14909	0.4655:0.1615:0.3729:0.0	.	.	.	.	X	19	.	ENSP00000335024:C19X	C	-	3	2	SERPINA11	93984808	0.214000	0.23563	0.014000	0.15608	0.315000	0.28087	0.127000	0.15790	-0.256000	0.09473	0.533000	0.62120	TGT		0.547	SERPINA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413091.1	NM_001080451		28	141	0	0	0	0.008361	0	28	141				
DICER1	23405	broad.mit.edu	37	14	95556997	95556997	+	Silent	SNP	C	C	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr14:95556997C>A	ENST00000526495.1	-	29	5898	c.5607G>T	c.(5605-5607)ccG>ccT	p.P1869P	DICER1_ENST00000556045.1_Silent_p.P767P|DICER1_ENST00000393063.1_Silent_p.P1869P|DICER1_ENST00000527416.2_5'UTR|DICER1_ENST00000527414.1_Silent_p.P1869P|DICER1_ENST00000541352.1_Missense_Mutation_p.R1815L|DICER1_ENST00000343455.3_Silent_p.P1869P			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1869	DRBM. {ECO:0000255|PROSITE- ProRule:PRU00266}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)	p.P1869P(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TTCTCTCAGCCGGGCTGTAAA	0.433			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																														uc001ydw.2		NA	yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	Mis F|N	"""dicer 1, ribonuclease type III """			"""E, M, O"""		pleuropulmonary blastoma			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)|pancreas(1)|lung(1)	5						c.(5605-5607)CCG>CCT		dicer1							132.0	137.0	136.0					14																	95556997		2203	4300	6503	SO:0001819	synonymous_variant	23405	DICER_1_syndrome_|Familial_Multinodular_Goiter_	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr14:95556997C>A	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"""dicer 1, double-stranded RNA-specific endoribonuclease"""	606241	"""Dicer1, Dcr-1 homolog (Drosophila)"", ""multinodular goitre 1"""	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.5607G>T	14.37:g.95556997C>A						DICER1_uc010avh.1_Silent_p.P767P|DICER1_uc001ydv.2_Silent_p.P1859P|DICER1_uc001ydx.2_Silent_p.P1869P	p.P1869P	NM_030621	NP_085124	Q9UPY3	DICER_HUMAN		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	28	5789	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	1869			DRBM.		A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Silent	SNP	ENST00000526495.1	37	c.5607G>T	CCDS9931.1	.	.	.	.	.	.	.	.	.	.	C	12.25	1.882410	0.33255	.	.	ENSG00000100697	ENST00000541352	T	0.50001	0.76	6.07	-3.07	0.05363	.	.	.	.	.	T	0.38612	0.1047	.	.	.	0.28596	N	0.909411	.	.	.	.	.	.	T	0.48670	-0.9015	6	0.87932	D	0	-22.0452	3.2624	0.06853	0.1537:0.2324:0.0917:0.5222	.	.	.	.	L	1815	ENSP00000444719:R1815L	ENSP00000444719:R1815L	R	-	2	0	DICER1	94626750	0.036000	0.19791	0.985000	0.45067	0.945000	0.59286	-0.591000	0.05753	-0.256000	0.09473	-0.880000	0.02959	CGG		0.433	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1			121	199	1	0	4.08092e-63	0.01441	7.40714e-63	121	199				
IGHV1-2	28474	broad.mit.edu	37	14	106452657	106452657	+	RNA	SNP	T	T	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr14:106452657T>A	ENST00000390594.2	-	0	415									immunoglobulin heavy variable 1-2																		GGATGTGGGTTTTCACACTGT	0.498																																							uc010tyt.1		NA																	0					0						c.e1975+1		Parts of antibodies, mostly variable regions.							144.0	135.0	138.0					14																	106452657		1986	4145	6131			8755							g.chr14:106452657T>A	X07448		14q32.33	2012-02-08			ENSG00000211934	ENSG00000211934		"""Immunoglobulins / IGH locus"""	5550	other	immunoglobulin gene							Standard	NG_001019		Approved	V35			OTTHUMG00000152320		14.37:g.106452657T>A														1975		-									Splice_Site	SNP	ENST00000390594.2	37	c.38098_splice																																																																																					0.498	IGHV1-2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325882.1	NG_001019		77	174	0	0	0	0.01441	0	77	174				
ACAN	176	broad.mit.edu	37	15	89402517	89402517	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr15:89402517T>C	ENST00000561243.1	+	11	6701	c.6701T>C	c.(6700-6702)cTa>cCa	p.L2234P	ACAN_ENST00000559004.1_Missense_Mutation_p.L2234P|ACAN_ENST00000439576.2_Missense_Mutation_p.L2234P|ACAN_ENST00000352105.7_Missense_Mutation_p.L2234P			P16112	PGCA_HUMAN	aggrecan	2119	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.|G3.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)	p.L2120P(2)		NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GAGACGCATCTAGAAATTGAG	0.572																																							uc010upo.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)	3						c.(6700-6702)CTA>CCA		aggrecan isoform 2 precursor							38.0	42.0	41.0					15																	89402517		2086	4221	6307	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89402517T>C	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.6701T>C	15.37:g.89402517T>C	ENSP00000453342:p.Leu2234Pro					ACAN_uc010upp.1_Missense_Mutation_p.L2234P|ACAN_uc002bna.2_RNA	p.L2234P	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		12	7075	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		2234					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.6701T>C	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	T	6.601	0.479255	0.12581	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.02472	4.49;4.28	5.27	-0.588	0.11687	.	0.378194	0.15393	N	0.264710	T	0.08088	0.0202	M	0.69823	2.125	0.09310	N	1	D;B	0.71674	0.998;0.285	D;B	0.65684	0.937;0.078	T	0.23976	-1.0173	10	0.28530	T	0.3	-0.1398	4.129	0.10141	0.2484:0.2477:0.0:0.5039	.	2234;2234	E7ENV9;E7EX88	.;.	P	2234;2234;2120	ENSP00000387356:L2234P;ENSP00000341615:L2234P	ENSP00000268134:L2120P	L	+	2	0	ACAN	87203521	0.000000	0.05858	0.001000	0.08648	0.799000	0.45148	0.114000	0.15520	-0.013000	0.14199	0.454000	0.30748	CTA		0.572	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		4	15	0	0	0	0.014758	0	4	15				
ABCA3	21	broad.mit.edu	37	16	2376065	2376065	+	Missense_Mutation	SNP	C	C	A	rs150902383		TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr16:2376065C>A	ENST00000301732.5	-	5	965	c.265G>T	c.(265-267)Gct>Tct	p.A89S	ABCA3_ENST00000567910.1_Missense_Mutation_p.A89S|ABCA3_ENST00000382381.3_Missense_Mutation_p.A89S	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	89					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.A89S(1)		breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	GTCTTGGCAGCGTCACTGTGA	0.612																																							uc002cpy.1		NA																	1	Substitution - Missense(1)		lung(1)	breast(5)|ovary(5)|central_nervous_system(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	16						c.(265-267)GCT>TCT		ATP-binding cassette, sub-family A member 3							66.0	63.0	64.0					16																	2376065		2198	4300	6498	SO:0001583	missense	21				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:2376065C>A	U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"""ATP binding cassette transporters / subfamily A"""	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.265G>T	16.37:g.2376065C>A	ENSP00000301732:p.Ala89Ser					ABCA3_uc010bsk.1_Missense_Mutation_p.A89S|ABCA3_uc010bsl.1_Missense_Mutation_p.A89S|ABCA3_uc002cpz.1_Missense_Mutation_p.A89S	p.A89S	NM_001089	NP_001080	Q99758	ABCA3_HUMAN			5	977	-		Ovarian(90;0.17)	89					B2RU09|Q54A95|Q6P5P9|Q92473	Missense_Mutation	SNP	ENST00000301732.5	37	c.265G>T	CCDS10466.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.989352	0.74589	.	.	ENSG00000167972	ENST00000301732;ENST00000382381	D	0.90197	-2.63	5.63	4.68	0.58851	.	0.177322	0.48767	D	0.000161	D	0.89602	0.6762	L	0.43152	1.355	0.36530	D	0.870673	B;B;D;P	0.59357	0.166;0.322;0.985;0.712	B;B;P;P	0.49665	0.235;0.258;0.618;0.564	D	0.91865	0.5502	10	0.56958	D	0.05	.	13.4615	0.61229	0.0:0.9236:0.0:0.0764	.	89;151;89;89	A7MBM9;Q4LE27;Q6P5P9;Q99758	.;.;.;ABCA3_HUMAN	S	89;151	ENSP00000301732:A89S	ENSP00000301732:A89S	A	-	1	0	ABCA3	2316066	0.993000	0.37304	0.054000	0.19295	0.027000	0.11550	3.275000	0.51639	1.393000	0.46605	-0.150000	0.13652	GCT		0.612	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089		29	54	1	0	2.4375e-19	0.007291	3.60859e-19	29	54				
GRIN2A	2903	broad.mit.edu	37	16	9857046	9857046	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr16:9857046C>T	ENST00000396573.2	-	14	4664	c.4355G>A	c.(4354-4356)cGc>cAc	p.R1452H	GRIN2A_ENST00000535259.1_3'UTR|GRIN2A_ENST00000562109.1_3'UTR|GRIN2A_ENST00000396575.2_Missense_Mutation_p.R1452H|GRIN2A_ENST00000404927.2_3'UTR|GRIN2A_ENST00000330684.3_Missense_Mutation_p.R1452H	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1452					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.R1452H(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CTTGTACACGCGTCTATTGCT	0.363																																							uc002czo.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45						c.(4354-4356)CGC>CAC		N-methyl-D-aspartate receptor subunit 2A isoform	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						61.0	66.0	64.0					16																	9857046		2197	4300	6497	SO:0001583	missense	2903				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9857046C>T		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.4355G>A	16.37:g.9857046C>T	ENSP00000379818:p.Arg1452His					GRIN2A_uc010uym.1_Missense_Mutation_p.R1452H|GRIN2A_uc010uyn.1_3'UTR|GRIN2A_uc002czr.3_3'UTR	p.R1452H	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN			13	4903	-			1452			Cytoplasmic (Potential).		O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.4355G>A	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	C	13.58	2.280415	0.40294	.	.	ENSG00000183454	ENST00000396573;ENST00000330684;ENST00000396575	T;T;T	0.12879	2.64;2.64;2.64	5.79	5.79	0.91817	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.30792	0.0776	L	0.39245	1.2	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.00309	-1.1828	9	.	.	.	.	19.0281	0.92941	0.0:1.0:0.0:0.0	.	1452	Q12879	NMDE1_HUMAN	H	1452	ENSP00000379818:R1452H;ENSP00000332549:R1452H;ENSP00000379820:R1452H	.	R	-	2	0	GRIN2A	9764547	0.998000	0.40836	0.968000	0.41197	0.975000	0.68041	3.750000	0.55157	2.733000	0.93635	0.655000	0.94253	CGC		0.363	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			15	99	0	0	0	0.00245	0	15	99				
CLEC16A	23274	broad.mit.edu	37	16	11217633	11217633	+	Missense_Mutation	SNP	G	G	A	rs201076792		TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr16:11217633G>A	ENST00000409790.1	+	21	2533	c.2303G>A	c.(2302-2304)cGt>cAt	p.R768H	CLEC16A_ENST00000465491.1_3'UTR|CLEC16A_ENST00000381822.2_5'Flank|CLEC16A_ENST00000409552.3_Missense_Mutation_p.R750H	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A									p.R768H(1)|p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GACGACAGCCGTGCCCTGAAC	0.592																																							uc002dao.2		NA																	2	Substitution - Missense(1)|Whole gene deletion(1)		haematopoietic_and_lymphoid_tissue(1)|lung(1)	ovary(1)|central_nervous_system(1)	2						c.(2302-2304)CGT>CAT		C-type lectin domain family 16, member A							82.0	91.0	88.0					16																	11217633		2152	4248	6400	SO:0001583	missense	23274							g.chr16:11217633G>A	AB002348	CCDS45409.1, CCDS58423.1	16p13.13	2010-04-27	2007-07-17	2007-07-17	ENSG00000038532	ENSG00000038532		"""C-type lectin domain containing"""	29013	protein-coding gene	gene with protein product		611303	"""KIAA0350"""	KIAA0350		9205841, 17632545	Standard	NM_015226		Approved	Gop-1	uc002dao.3	Q2KHT3	OTTHUMG00000152915	ENST00000409790.1:c.2303G>A	16.37:g.11217633G>A	ENSP00000387122:p.Arg768His					CLEC16A_uc002dan.3_Missense_Mutation_p.R750H|CLEC16A_uc002dap.2_5'Flank	p.R768H	NM_015226	NP_056041	Q2KHT3	CL16A_HUMAN			21	2533	+			768						Missense_Mutation	SNP	ENST00000409790.1	37	c.2303G>A	CCDS45409.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.582831|5.582831	0.96578|0.96578	.|.	.|.	ENSG00000038532|ENSG00000038532	ENST00000409790;ENST00000542102;ENST00000409552|ENST00000428742	T|.	0.63913|.	-0.07|.	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.79639|0.79639	0.4480|0.4480	M|M	0.82716|0.82716	2.605|2.605	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.83275|.	0.994;0.996|.	T|T	0.80625|0.80625	-0.1299|-0.1299	10|5	0.87932|.	D|.	0|.	-12.7874|-12.7874	18.5026|18.5026	0.90887|0.90887	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	768;750|.	Q2KHT3;Q2KHT3-2|.	CL16A_HUMAN;.|.	H|M	768;768;750|12	ENSP00000387122:R768H|.	ENSP00000386495:R750H|.	R|V	+|+	2|1	0|0	CLEC16A|CLEC16A	11125134|11125134	1.000000|1.000000	0.71417|0.71417	0.971000|0.971000	0.41717|0.41717	0.977000|0.977000	0.68977|0.68977	9.689000|9.689000	0.98673|0.98673	2.618000|2.618000	0.88619|0.88619	0.655000|0.655000	0.94253|0.94253	CGT|GTG		0.592	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328540.2	NM_015226		22	74	0	0	0	0.016522	0	22	74				
GP2	2813	broad.mit.edu	37	16	20327355	20327355	+	Nonsense_Mutation	SNP	G	G	T	rs140017290		TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr16:20327355G>T	ENST00000381362.4	-	10	1509	c.1433C>A	c.(1432-1434)tCa>tAa	p.S478*	GP2_ENST00000302555.5_Nonsense_Mutation_p.S475*|GP2_ENST00000381360.5_Nonsense_Mutation_p.S331*|GP2_ENST00000341642.5_Nonsense_Mutation_p.S328*|GP2_ENST00000573897.1_5'Flank	NM_001007240.1|NM_001502.2	NP_001007241.2|NP_001493.2	P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	478	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				antigen transcytosis by M cells in mucosal-associated lymphoid tissue (GO:0002412)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)	p.S475*(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						TTGACTTCTTGAGCAAGACTG	0.478																																							uc002dgv.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(3)|skin(1)	4						c.(1432-1434)TCA>TAA		zymogen granule membrane glycoprotein 2 isoform		G	stop/SER,stop/SER,stop/SER,stop/SER	2,4404	4.2+/-10.8	0,2,2201	103.0	97.0	99.0		1433,992,983,1424	5.4	0.4	16	dbSNP_134	99	0,8600		0,0,4300	no	stop-gained,stop-gained,stop-gained,stop-gained	GP2	NM_001007240.1,NM_001007241.1,NM_001007242.1,NM_001502.2	,,,	0,2,6501	TT,TG,GG		0.0,0.0454,0.0154	,,,	478/538,331/391,328/388,475/535	20327355	2,13004	2203	4300	6503	SO:0001587	stop_gained	2813					anchored to membrane|extracellular region|plasma membrane		g.chr16:20327355G>T	U36221	CCDS10582.2, CCDS42128.1, CCDS45432.1, CCDS45433.1	16p12.3	2008-02-05			ENSG00000169347	ENSG00000169347			4441	protein-coding gene	gene with protein product		602977				9605860	Standard	XM_005255259		Approved		uc002dgw.3	P55259	OTTHUMG00000131489	ENST00000381362.4:c.1433C>A	16.37:g.20327355G>T	ENSP00000370767:p.Ser478*					GP2_uc002dgw.2_Nonsense_Mutation_p.S475*|GP2_uc002dgx.2_Nonsense_Mutation_p.S331*|GP2_uc002dgy.2_Nonsense_Mutation_p.S328*	p.S478*	NM_001007240	NP_001007241	P55259	GP2_HUMAN			10	1516	-			478			ZP.		A6NFM9|A6NJA8|Q13338|Q9UIF1	Nonsense_Mutation	SNP	ENST00000381362.4	37	c.1433C>A	CCDS42128.1	.	.	.	.	.	.	.	.	.	.	G	37	6.241960	0.97403	4.54E-4	0.0	ENSG00000169347	ENST00000302555;ENST00000381362;ENST00000381360;ENST00000341642;ENST00000537520	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	4.0189	14.6045	0.68466	0.0:0.0:1.0:0.0	.	.	.	.	X	475;478;331;328;456	.	ENSP00000304044:S475X	S	-	2	0	GP2	20234856	0.979000	0.34478	0.364000	0.25888	0.965000	0.64279	2.880000	0.48530	2.492000	0.84095	0.655000	0.94253	TCA		0.478	GP2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436920.1	NM_016295		24	70	1	0	3.7963e-18	0.00333	5.55813e-18	24	70				
RBBP6	5930	broad.mit.edu	37	16	24582841	24582841	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr16:24582841C>A	ENST00000319715.4	+	18	4886	c.4454C>A	c.(4453-4455)tCc>tAc	p.S1485Y	RBBP6_ENST00000348022.2_Missense_Mutation_p.S1451Y|RBBP6_ENST00000381039.3_Missense_Mutation_p.S645Y	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1485	Interaction with p53. {ECO:0000250}.				embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S1485Y(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		TATTCAAGTTCCAAACGTAGA	0.378																																							uc002dmh.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(4453-4455)TCC>TAC		retinoblastoma-binding protein 6 isoform 1							73.0	72.0	72.0					16																	24582841		2197	4299	6496	SO:0001583	missense	5930				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:24582841C>A		CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"""proliferation potential-related protein"""	600938	"""retinoblastoma-binding protein 6"""			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.4454C>A	16.37:g.24582841C>A	ENSP00000317872:p.Ser1485Tyr					RBBP6_uc002dmi.2_Missense_Mutation_p.S1451Y|RBBP6_uc010bxr.2_Missense_Mutation_p.S645Y|RBBP6_uc002dmk.2_Missense_Mutation_p.S1318Y	p.S1485Y	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN		GBM - Glioblastoma multiforme(48;0.0518)	18	5494	+			1485			Interaction with p53 (By similarity).		Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Missense_Mutation	SNP	ENST00000319715.4	37	c.4454C>A	CCDS10621.1	.	.	.	.	.	.	.	.	.	.	C	17.16	3.318947	0.60524	.	.	ENSG00000122257	ENST00000381039;ENST00000319715;ENST00000348022	T;T;T	0.25414	1.8;2.15;2.11	6.04	6.04	0.98038	.	0.143059	0.46145	D	0.000317	T	0.33789	0.0875	L	0.29908	0.895	0.42181	D	0.991686	P;P;P	0.47253	0.892;0.892;0.828	P;P;B	0.50537	0.643;0.643;0.44	T	0.02294	-1.1181	10	0.72032	D	0.01	-5.5253	20.5948	0.99439	0.0:1.0:0.0:0.0	.	645;1451;1485	Q7Z6E9-4;Q7Z6E9-2;Q7Z6E9	.;.;RBBP6_HUMAN	Y	645;1485;1451	ENSP00000370427:S645Y;ENSP00000317872:S1485Y;ENSP00000316291:S1451Y	ENSP00000317872:S1485Y	S	+	2	0	RBBP6	24490342	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.381000	0.59587	2.873000	0.98535	0.563000	0.77884	TCC		0.378	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2	NM_006910		17	87	1	0	3.45872e-05	0.004007	3.91692e-05	17	87				
KIAA0556	23247	broad.mit.edu	37	16	27710904	27710904	+	Missense_Mutation	SNP	A	A	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr16:27710904A>T	ENST00000261588.4	+	10	1182	c.1163A>T	c.(1162-1164)aAg>aTg	p.K388M	CTD-2049O4.1_ENST00000564893.1_RNA|KIAA0556_ENST00000567894.1_3'UTR	NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	388						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.K388M(2)		breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						CTGGAGGAGAAGGAAGAGACC	0.522																																							uc002dow.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1)	8						c.(1162-1164)AAG>ATG		hypothetical protein LOC23247							138.0	105.0	116.0					16																	27710904		2197	4300	6497	SO:0001583	missense	23247							g.chr16:27710904A>T	AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.1163A>T	16.37:g.27710904A>T	ENSP00000261588:p.Lys388Met					KIAA0556_uc002dox.1_Missense_Mutation_p.K296M	p.K388M	NM_015202	NP_056017	O60303	K0556_HUMAN			10	1187	+			388					A7E2C2	Missense_Mutation	SNP	ENST00000261588.4	37	c.1163A>T	CCDS32415.1	.	.	.	.	.	.	.	.	.	.	A	10.84	1.464490	0.26335	.	.	ENSG00000047578	ENST00000261588;ENST00000327217	T	0.11063	2.81	4.32	0.437	0.16555	.	1.382220	0.04459	N	0.374031	T	0.15998	0.0385	L	0.47716	1.5	0.09310	N	1	P;B	0.47604	0.898;0.32	P;B	0.52856	0.711;0.264	T	0.14755	-1.0461	10	0.49607	T	0.09	-3.1722	0.9854	0.01445	0.4976:0.2:0.1091:0.1933	.	296;388	Q8N803;O60303	.;K0556_HUMAN	M	388;295	ENSP00000261588:K388M	ENSP00000261588:K388M	K	+	2	0	KIAA0556	27618405	0.090000	0.21635	0.002000	0.10522	0.248000	0.25809	0.516000	0.22817	0.266000	0.21894	0.459000	0.35465	AAG		0.522	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202		13	56	0	0	0	0.003163	0	13	56				
C16orf92	146378	broad.mit.edu	37	16	30035098	30035098	+	Missense_Mutation	SNP	C	C	T	rs372957737		TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr16:30035098C>T	ENST00000300575.2	+	2	202	c.181C>T	c.(181-183)Cgc>Tgc	p.R61C	DOC2A_ENST00000567824.1_5'Flank	NM_001109659.1|NM_001109660.1	NP_001103129.1|NP_001103130.1	Q96LL3	CP092_HUMAN	chromosome 16 open reading frame 92	61						integral component of membrane (GO:0016021)		p.R61C(1)		breast(3)|lung(3)	6						AGAGTCTCCGCGCTTCTTAGA	0.567																																							uc002dvs.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(181-183)CGC>TGC		hypothetical protein LOC146378 isoform 2		C	CYS/ARG,CYS/ARG	1,4009		0,1,2004	47.0	48.0	48.0		181,115	-1.4	0.0	16		48	0,8318		0,0,4159	no	missense,missense	C16orf92	NM_001109660.1,NM_001109659.1	180,180	0,1,6163	TT,TC,CC		0.0,0.0249,0.0081	benign,benign	61/133,39/111	30035098	1,12327	2005	4159	6164	SO:0001583	missense	146378					integral to membrane		g.chr16:30035098C>T	AK058133	CCDS42146.1	16p11.2	2012-05-30			ENSG00000167194	ENSG00000167194			26346	protein-coding gene	gene with protein product							Standard	NM_001109659		Approved	FLJ25404	uc002dvs.2	Q96LL3	OTTHUMG00000177107	ENST00000300575.2:c.181C>T	16.37:g.30035098C>T	ENSP00000300575:p.Arg61Cys					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|C16orf92_uc002dvr.2_Missense_Mutation_p.R39C	p.R61C	NM_001109660	NP_001103130	Q96LL3	CP092_HUMAN			2	202	+			61					Q494R8	Missense_Mutation	SNP	ENST00000300575.2	37	c.181C>T	CCDS42146.1	.	.	.	.	.	.	.	.	.	.	C	10.26	1.300774	0.23650	2.49E-4	0.0	ENSG00000167194	ENST00000300575	T	0.31247	1.5	5.12	-1.37	0.09056	.	1.587550	0.04087	N	0.310729	T	0.14270	0.0345	N	0.08118	0	0.09310	N	1	B;B	0.14438	0.01;0.003	B;B	0.09377	0.004;0.002	T	0.23762	-1.0179	10	0.56958	D	0.05	-5.4674	1.0592	0.01596	0.2721:0.3711:0.1514:0.2054	.	61;39	Q96LL3;Q96LL3-2	CP092_HUMAN;.	C	61	ENSP00000300575:R61C	ENSP00000300575:R61C	R	+	1	0	C16orf92	29942599	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-1.338000	0.02655	-0.082000	0.12640	-1.396000	0.01147	CGC		0.567	C16orf92-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435351.1	NM_001109659		4	65	0	0	0	0.009096	0	4	65				
ITGAM	3684	broad.mit.edu	37	16	31283251	31283251	+	Silent	SNP	G	G	C			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr16:31283251G>C	ENST00000287497.8	+	7	717	c.642G>C	c.(640-642)ctG>ctC	p.L214L	ITGAM_ENST00000544665.3_Silent_p.L214L			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	214	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)	p.L214L(1)		endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CAAGATCACTGGTGAAGCCAA	0.537																																							uc002ebq.2		NA																	1	Substitution - coding silent(1)		lung(1)	kidney(1)	1						c.(640-642)CTG>CTC		integrin alpha M isoform 2 precursor							82.0	82.0	82.0					16																	31283251		1950	4170	6120	SO:0001819	synonymous_variant	3684				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	g.chr16:31283251G>C	J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"""CD molecules"", ""Complement system"", ""Integrins"""	6149	protein-coding gene	gene with protein product		120980	"""integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"""	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.642G>C	16.37:g.31283251G>C						ITGAM_uc002ebr.2_Silent_p.L214L	p.L214L	NM_000632	NP_000623	P11215	ITAM_HUMAN			7	740	+			214			VWFA.|Extracellular (Potential).		Q4VAK0|Q4VAK1|Q4VAK2	Silent	SNP	ENST00000287497.8	37	c.642G>C	CCDS45470.1																																																																																				0.537	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1	NM_000632		40	113	0	0	0	0.011902	0	40	113				
ZNF267	10308	broad.mit.edu	37	16	31926644	31926644	+	Silent	SNP	C	C	G			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr16:31926644C>G	ENST00000300870.10	+	4	1283	c.1074C>G	c.(1072-1074)gtC>gtG	p.V358V		NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	358					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V358V(1)		breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						GTGGCAAGGTCTTTAACCTTA	0.358																																							uc002ecs.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(1)|skin(1)	4						c.(1072-1074)GTC>GTG		zinc finger protein 267							114.0	122.0	119.0					16																	31926644		2197	4300	6497	SO:0001819	synonymous_variant	10308				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:31926644C>G	X78925	CCDS32440.1	16p11.2	2013-01-08			ENSG00000185947	ENSG00000185947		"""Zinc fingers, C2H2-type"", ""-"""	13060	protein-coding gene	gene with protein product		604752				7865130	Standard	NM_003414		Approved	HZF2	uc002ecs.5	Q14586		ENST00000300870.10:c.1074C>G	16.37:g.31926644C>G							p.V358V	NM_003414	NP_003405	Q14586	ZN267_HUMAN			4	1283	+			358					A0JNZ9|Q8NE41|Q9NRJ0	Silent	SNP	ENST00000300870.10	37	c.1074C>G	CCDS32440.1																																																																																				0.358	ZNF267-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432446.2	NM_003414		105	297	0	0	0	0.01441	0	105	297				
MMP2	4313	broad.mit.edu	37	16	55532290	55532290	+	Nonsense_Mutation	SNP	C	C	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr16:55532290C>T	ENST00000219070.4	+	11	2208	c.1699C>T	c.(1699-1701)Cga>Tga	p.R567*	MMP2_ENST00000570308.1_Nonsense_Mutation_p.R491*|MMP2_ENST00000437642.2_Nonsense_Mutation_p.R517*|MMP2_ENST00000543485.1_Nonsense_Mutation_p.R491*	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	567	Required for inhibitor TIMP2 binding.				angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|bone trabecula formation (GO:0060346)|cellular protein metabolic process (GO:0044267)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|positive regulation of innate immune response (GO:0045089)|proteolysis (GO:0006508)|response to hypoxia (GO:0001666)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|sarcomere (GO:0030017)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)	p.R567*(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Captopril(DB01197)|Marimastat(DB00786)	TGATGTCCAGCGAGTGGATGC	0.562																																							uc002ehz.3		NA																	1	Substitution - Nonsense(1)		lung(1)	large_intestine(3)|ovary(3)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	11						c.(1699-1701)CGA>TGA		matrix metalloproteinase 2 isoform a	Marimastat(DB00786)|Sulindac(DB00605)						96.0	87.0	90.0					16																	55532290		2198	4300	6498	SO:0001587	stop_gained	4313				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding	g.chr16:55532290C>T		CCDS10752.1, CCDS45487.1	16q13-q21	2008-02-05	2005-08-08		ENSG00000087245	ENSG00000087245	3.4.24.24		7166	protein-coding gene	gene with protein product		120360	"""matrix metalloproteinase 2 (gelatinase A, 72kD gelatinase, 72kD type IV collagenase)"", ""matrix metalloproteinase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)"""	CLG4, CLG4A			Standard	NM_004530		Approved	TBE-1	uc002ehz.4	P08253	OTTHUMG00000133202	ENST00000219070.4:c.1699C>T	16.37:g.55532290C>T	ENSP00000219070:p.Arg567*					MMP2_uc010vhd.1_Nonsense_Mutation_p.R491*|MMP2_uc010ccc.2_Nonsense_Mutation_p.R517*|MMP2_uc002eia.3_Nonsense_Mutation_p.R64*	p.R567*	NM_004530	NP_004521	P08253	MMP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	11	2010	+		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)	567			Required for inhibitor TIMP2 binding.		B2R6U1|B4DWH3|E9PE45|Q9UCJ8	Nonsense_Mutation	SNP	ENST00000219070.4	37	c.1699C>T	CCDS10752.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.429174	0.83776	.	.	ENSG00000087245	ENST00000219070;ENST00000543485;ENST00000437642	.	.	.	6.06	-0.797	0.10909	.	0.994055	0.08176	N	0.986209	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.6468	0.51265	0.541:0.4027:0.0:0.0564	.	.	.	.	X	567;491;517	.	ENSP00000219070:R567X	R	+	1	2	MMP2	54089791	0.000000	0.05858	0.000000	0.03702	0.205000	0.24178	0.676000	0.25247	-0.331000	0.08501	-0.896000	0.02909	CGA		0.562	MMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256913.3			15	101	0	0	0	0.014323	0	15	101				
COG4	25839	broad.mit.edu	37	16	70517776	70517776	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr16:70517776T>C	ENST00000323786.5	-	14	1828	c.1807A>G	c.(1807-1809)Aaa>Gaa	p.K603E		NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	599					Golgi organization (GO:0007030)|Golgi vesicle prefusion complex stabilization (GO:0048213)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)		p.K603E(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				TCTCGGAATTTGTTGGACACG	0.552																																							uc002ezc.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1807-1809)AAA>GAA		component of oligomeric golgi complex 4							116.0	103.0	108.0					16																	70517776		2198	4300	6498	SO:0001583	missense	25839				Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding	g.chr16:70517776T>C	AL050101	CCDS10892.2, CCDS73909.1	16q22.1	2013-09-20			ENSG00000103051	ENSG00000103051		"""Components of oligomeric golgi complex"""	18620	protein-coding gene	gene with protein product		606976				11980916	Standard	NM_015386		Approved	COD1, DKFZP586E1519	uc002ezc.3	Q9H9E3	OTTHUMG00000128515	ENST00000323786.5:c.1807A>G	16.37:g.70517776T>C	ENSP00000315775:p.Lys603Glu					COG4_uc002eza.2_5'UTR|COG4_uc002ezb.2_Missense_Mutation_p.K59E|COG4_uc010cfu.2_RNA|COG4_uc002ezd.2_Missense_Mutation_p.K582E|COG4_uc002eze.2_Missense_Mutation_p.K297E	p.K603E	NM_015386	NP_056201	Q9H9E3	COG4_HUMAN			14	1818	-		Ovarian(137;0.0694)	599					B4DMN8|C9JS23|Q96D40|Q9BRF0|Q9BVZ2|Q9H5Y4|Q9Y3W3	Missense_Mutation	SNP	ENST00000323786.5	37	c.1807A>G	CCDS10892.2	.	.	.	.	.	.	.	.	.	.	T	12.75	2.031838	0.35797	.	.	ENSG00000103051	ENST00000323786;ENST00000338984;ENST00000526700;ENST00000539961	T	0.52983	0.64	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.48333	0.1494	M	0.65498	2.005	0.80722	D	1	B;P;B;B	0.38473	0.142;0.633;0.13;0.123	B;B;B;B	0.37692	0.03;0.256;0.016;0.023	T	0.45279	-0.9272	10	0.25751	T	0.34	-15.6498	15.8287	0.78733	0.0:0.0:0.0:1.0	.	509;577;599;59	Q8N8L9;Q6PIW8;Q9H9E3;E9PQK0	.;.;COG4_HUMAN;.	E	603;578;59;261	ENSP00000315775:K603E	ENSP00000315775:K603E	K	-	1	0	COG4	69075277	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.634000	0.61325	2.144000	0.66660	0.528000	0.53228	AAA		0.552	COG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250326.3			42	104	0	0	0	0.01441	0	42	104				
TP53	7157	broad.mit.edu	37	17	7577108	7577108	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr17:7577108C>A	ENST00000269305.4	-	8	1019	c.830G>T	c.(829-831)tGt>tTt	p.C277F	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.C277F|TP53_ENST00000445888.2_Missense_Mutation_p.C277F|TP53_ENST00000359597.4_Missense_Mutation_p.C277F|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.C277F	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	277	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in an osteosarcoma with no family history; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C277F(24)|p.C277Y(15)|p.0?(8)|p.?(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.A276_C277delAC(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.C277S(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TCTCCCAGGACAGGCACAAAC	0.547		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		61	Substitution - Missense(40)|Whole gene deletion(8)|Deletion - In frame(7)|Deletion - Frameshift(4)|Unknown(2)	p.C277F(20)|p.C277Y(15)|p.0?(7)|p.C277*(6)|p.C277G(4)|p.C277C(4)|p.?(2)|p.C277W(2)|p.C277fs*29(2)|p.A276_R283delACPGRDRR(1)|p.A276fs*64(1)|p.V274_P278del(1)|p.C277_P278insXXXXXXX(1)|p.L265_K305del41(1)|p.C275_R283delCACPGRDRR(1)|p.S269fs*21(1)|p.A276_C277delAC(1)|p.F270_D281del12(1)|p.C275fs*67(1)|p.C277R(1)|p.C277S(1)|p.V272_K292del21(1)|p.C275fs*20(1)	lung(11)|haematopoietic_and_lymphoid_tissue(9)|breast(6)|bone(6)|upper_aerodigestive_tract(5)|oesophagus(5)|stomach(4)|urinary_tract(4)|central_nervous_system(3)|skin(2)|cervix(1)|peritoneum(1)|large_intestine(1)|ovary(1)|prostate(1)|liver(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(829-831)TGT>TTT	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							72.0	62.0	66.0					17																	7577108		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumensyndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577108C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.830G>T	17.37:g.7577108C>A	ENSP00000269305:p.Cys277Phe	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.C277F|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.C145F|TP53_uc010cng.1_Missense_Mutation_p.C145F|TP53_uc002gii.1_Missense_Mutation_p.C145F|TP53_uc010cnh.1_Missense_Mutation_p.C277F|TP53_uc010cni.1_Missense_Mutation_p.C277F|TP53_uc002gij.2_Missense_Mutation_p.C277F	p.C277F	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1024	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	277		C -> W (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> F (in sporadic cancers; somatic mutation).|C -> Y (in an osteosarcoma with no family history; germline mutation and in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).	Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.830G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.209345	0.79240	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99874	-7.39;-7.39;-7.39;-7.39;-7.39;-7.39	5.13	5.13	0.70059	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.044315	0.85682	D	0.000000	D	0.99880	0.9943	M	0.91872	3.25	0.58432	D	0.999999	D;D;D;D	0.89917	0.999;1.0;1.0;0.998	D;D;D;D	0.85130	0.982;0.997;0.99;0.986	D	0.96422	0.9312	10	0.87932	D	0	-10.0792	16.1198	0.81342	0.0:1.0:0.0:0.0	.	277;277;277;277	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	F	277;277;277;277;277;266;145	ENSP00000352610:C277F;ENSP00000269305:C277F;ENSP00000398846:C277F;ENSP00000391127:C277F;ENSP00000391478:C277F;ENSP00000425104:C145F	ENSP00000269305:C277F	C	-	2	0	TP53	7517833	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.781000	0.68964	2.667000	0.90743	0.462000	0.41574	TGT		0.547	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		13	27	1	0	1.49906e-05	0.00245	1.70494e-05	13	27				
MYH2	4620	broad.mit.edu	37	17	10426663	10426663	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr17:10426663G>C	ENST00000245503.5	-	38	5923	c.5539C>G	c.(5539-5541)Cgc>Ggc	p.R1847G	MYH2_ENST00000397183.2_Missense_Mutation_p.R1847G|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000532183.2_Intron|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1847					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.R1847G(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TCATGTTTGCGCAGACCTTTG	0.468																																							uc010coi.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						c.(5539-5541)CGC>GGC		myosin heavy chain IIa							176.0	157.0	163.0					17																	10426663		2203	4300	6503	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10426663G>C		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.5539C>G	17.37:g.10426663G>C	ENSP00000245503:p.Arg1847Gly					uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.R1847G|MYH2_uc010coj.2_Intron	p.R1847G	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN			38	5667	-			1847			Potential.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.5539C>G	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.526504	0.85600	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	D;D	0.82803	-1.65;-1.65	5.5	5.5	0.81552	Myosin tail (1);	0.000000	0.39475	U	0.001357	D	0.93802	0.8018	H	0.95043	3.615	0.80722	D	1	P	0.47762	0.9	P	0.62435	0.902	D	0.94698	0.7880	10	0.72032	D	0.01	.	19.5916	0.95514	0.0:0.0:1.0:0.0	.	1847	Q9UKX2	MYH2_HUMAN	G	1847	ENSP00000245503:R1847G;ENSP00000380367:R1847G	ENSP00000245503:R1847G	R	-	1	0	MYH2	10367388	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	7.795000	0.85887	2.861000	0.98227	0.655000	0.94253	CGC		0.468	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		20	124	0	0	0	0.010504	0	20	124				
FBXO47	494188	broad.mit.edu	37	17	37099079	37099079	+	Silent	SNP	C	C	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr17:37099079C>A	ENST00000378079.2	-	9	1234	c.1035G>T	c.(1033-1035)gtG>gtT	p.V345V		NM_001008777.2	NP_001008777.2	Q5MNV8	FBX47_HUMAN	F-box protein 47	345								p.V345V(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	20						TGCGTCCATTCACAGCTTTAC	0.398																																							uc002hrc.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1033-1035)GTG>GTT		F-box protein 47							84.0	79.0	80.0					17																	37099079		2203	4300	6503	SO:0001819	synonymous_variant	494188							g.chr17:37099079C>A		CCDS32639.1	17q12	2014-08-12			ENSG00000204952	ENSG00000204952		"""F-boxes /  ""other"""""	31969	protein-coding gene	gene with protein product		609498				15723337	Standard	NM_001008777		Approved		uc002hrc.2	Q5MNV8	OTTHUMG00000178945	ENST00000378079.2:c.1035G>T	17.37:g.37099079C>A							p.V345V	NM_001008777	NP_001008777	Q5MNV8	FBX47_HUMAN			9	1235	-			345					B2RTZ4	Silent	SNP	ENST00000378079.2	37	c.1035G>T	CCDS32639.1																																																																																				0.398	FBXO47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444073.1	NM_001008777		57	68	1	0	4.32865e-36	0.01441	7.40059e-36	57	68				
MED1	5469	broad.mit.edu	37	17	37565089	37565089	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr17:37565089T>C	ENST00000300651.6	-	17	3608	c.3385A>G	c.(3385-3387)Agc>Ggc	p.S1129G	MED1_ENST00000394287.3_Intron|CTB-131K11.1_ENST00000582842.1_RNA	NM_004774.3	NP_004765.2	O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)	p.S1129G(1)		NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		TACATACTGCTACTTAACTTG	0.483										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)	Pancreas(21;279 768 2492 4877 24026)	uc002hrv.3		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	8						c.(3385-3387)AGC>GGC		mediator complex subunit 1							67.0	60.0	62.0					17																	37565089		2203	4300	6503	SO:0001583	missense	5469				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:37565089T>C	L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"""PPAR binding protein"""	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000300651.6:c.3385A>G	17.37:g.37565089T>C	ENSP00000300651:p.Ser1129Gly	HNSCC(31;0.082)				MED1_uc010wee.1_Missense_Mutation_p.S957G|MED1_uc002hru.2_Intron	p.S1129G	NM_004774	NP_004765	Q15648	MED1_HUMAN	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)	17	3597	-		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	1129			Ser-rich.		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	ENST00000300651.6	37	c.3385A>G	CCDS11336.1	.	.	.	.	.	.	.	.	.	.	T	2.720	-0.266775	0.05754	.	.	ENSG00000125686	ENST00000300651	T	0.34667	1.35	5.35	1.94	0.25998	.	.	.	.	.	T	0.18341	0.0440	N	0.08118	0	0.32188	N	0.579452	B	0.02656	0.0	B	0.04013	0.001	T	0.15065	-1.0450	9	0.37606	T	0.19	-0.7678	8.8353	0.35109	0.0:0.2177:0.0:0.7823	.	1129	Q15648	MED1_HUMAN	G	1129	ENSP00000300651:S1129G	ENSP00000300651:S1129G	S	-	1	0	MED1	34818615	1.000000	0.71417	0.994000	0.49952	0.237000	0.25408	3.129000	0.50500	0.214000	0.20742	-0.256000	0.11100	AGC		0.483	MED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256943.3	NM_004774		7	38	0	0	0	0.00308	0	7	38				
KRTAP4-9	100132386	broad.mit.edu	37	17	39262039	39262039	+	Missense_Mutation	SNP	C	C	G	rs370251849		TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr17:39262039C>G	ENST00000391415.1	+	1	456	c.399C>G	c.(397-399)agC>agG	p.S133R		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	133	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.S133R(1)|p.S121R(1)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						gtgtgtccagctgctgcaagc	0.652																																							uc010wfp.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(397-399)AGC>AGG		keratin associated protein 4-9							7.0	13.0	11.0					17																	39262039		676	1567	2243	SO:0001583	missense	100132386					keratin filament		g.chr17:39262039C>G	AJ406941	CCDS54124.1	17q21.2	2013-06-25			ENSG00000212722	ENSG00000212722		"""Keratin associated proteins"""	18910	protein-coding gene	gene with protein product							Standard	NM_001146041		Approved	KAP4.9	uc010wfp.2	Q9BYQ8	OTTHUMG00000133584	ENST00000391415.1:c.399C>G	17.37:g.39262039C>G	ENSP00000375234:p.Ser133Arg						p.S133R	NM_001146041	NP_001139513	Q9BYQ8	KRA49_HUMAN			1	399	+			133			21.|29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].			Missense_Mutation	SNP	ENST00000391415.1	37	c.399C>G	CCDS54124.1	.	.	.	.	.	.	.	.	.	.	.	12.64	1.997952	0.35226	.	.	ENSG00000212722	ENST00000377734;ENST00000391415;ENST00000333994	T	0.38401	1.14	3.32	2.33	0.28932	.	11.718500	0.01159	U	0.006593	T	0.54679	0.1873	M	0.78223	2.4	0.32657	N	0.518627	P	0.49307	0.922	P	0.54100	0.742	T	0.30149	-0.9988	10	0.54805	T	0.06	.	5.7349	0.18061	0.0:0.7348:0.0:0.2652	.	133	Q9BYQ8	KRA49_HUMAN	R	121;133;124	ENSP00000375234:S133R	ENSP00000334461:S124R	S	+	3	2	KRTAP4-9	36515565	0.828000	0.29307	0.682000	0.30024	0.211000	0.24417	0.599000	0.24089	0.501000	0.28013	0.306000	0.20318	AGC		0.652	KRTAP4-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257688.1	NM_001146041		4	30	0	0	0	0.004482	0	4	30				
IGF2BP1	10642	broad.mit.edu	37	17	47075134	47075134	+	Silent	SNP	C	C	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr17:47075134C>T	ENST00000290341.3	+	1	361	c.27C>T	c.(25-27)ctC>ctT	p.L9L	RP11-501C14.5_ENST00000505903.1_RNA|IGF2BP1_ENST00000515586.1_3'UTR|IGF2BP1_ENST00000431824.2_Silent_p.L9L	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	9	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of mRNA stability involved in response to stress (GO:0010610)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)	p.L9L(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TCGGCAACCTCAACGAGAGCG	0.642																																					Esophageal Squamous(198;1041 2123 8248 37119 38268)	Esophageal Squamous(198;1041 2123 8248 37119 38268)	uc002iom.2		NA																	1	Substitution - coding silent(1)		lung(1)	kidney(1)	1						c.(25-27)CTC>CTT		insulin-like growth factor 2 mRNA binding							84.0	80.0	81.0					17																	47075134		2203	4300	6503	SO:0001819	synonymous_variant	10642				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	g.chr17:47075134C>T	AF198254	CCDS11543.1, CCDS54138.1	17q21.32	2013-02-12			ENSG00000159217	ENSG00000159217		"""RNA binding motif (RRM) containing"""	28866	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 1"""	608288				9891060, 11992722	Standard	NM_001160423		Approved	IMP-1	uc002iom.3	Q9NZI8	OTTHUMG00000161173	ENST00000290341.3:c.27C>T	17.37:g.47075134C>T						IGF2BP1_uc010dbj.2_Silent_p.L9L	p.L9L	NM_006546	NP_006537	Q9NZI8	IF2B1_HUMAN			1	361	+			9			RRM 1.		C9JT33	Silent	SNP	ENST00000290341.3	37	c.27C>T	CCDS11543.1																																																																																				0.642	IGF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364046.1	NM_006546		18	93	0	0	0	0.012319	0	18	93				
KAT7	11143	broad.mit.edu	37	17	47904793	47904793	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr17:47904793G>T	ENST00000259021.4	+	15	2045	c.1765G>T	c.(1765-1767)Gcc>Tcc	p.A589S	KAT7_ENST00000510819.1_Missense_Mutation_p.A420S|KAT7_ENST00000513980.1_3'UTR|KAT7_ENST00000435742.2_Missense_Mutation_p.A403S|KAT7_ENST00000503935.2_Missense_Mutation_p.A433S|KAT7_ENST00000454930.2_Missense_Mutation_p.A450S|KAT7_ENST00000509773.1_Missense_Mutation_p.A479S|KAT7_ENST00000424009.2_Missense_Mutation_p.A559S	NM_007067.4	NP_008998.1	O95251	KAT7_HUMAN	K(lysine) acetyltransferase 7	589	MYST-type HAT.				chromatin organization (GO:0006325)|DNA replication (GO:0006260)|histone H3 acetylation (GO:0043966)|histone H4-K12 acetylation (GO:0043983)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.A589S(2)									AGCCAAAGAGGCCAAAAGGTC	0.453																																							uc002ipm.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|lung(1)|skin(1)	3						c.(1765-1767)GCC>TCC		MYST histone acetyltransferase 2							84.0	72.0	76.0					17																	47904793		2203	4300	6503	SO:0001583	missense	11143				DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:47904793G>T	AF074606	CCDS11554.1, CCDS56035.1, CCDS56036.1, CCDS56037.1, CCDS56038.1	17q21.32	2013-01-10	2011-07-21	2011-07-21	ENSG00000136504	ENSG00000136504	2.3.1.48	"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"""	17016	protein-coding gene	gene with protein product	"""histone acetyltransferase binding to ORC1"""	609880	"""MYST histone acetyltransferase 2"""	MYST2		10438470, 10930412	Standard	NM_001199155		Approved	HBOA, HBO1, ZC2HC7	uc002ipm.3	O95251	OTTHUMG00000161770	ENST00000259021.4:c.1765G>T	17.37:g.47904793G>T	ENSP00000259021:p.Ala589Ser					MYST2_uc010wma.1_Missense_Mutation_p.A450S|MYST2_uc010wmb.1_Missense_Mutation_p.A479S|MYST2_uc010wmc.1_Missense_Mutation_p.A420S|MYST2_uc010wmd.1_Missense_Mutation_p.A433S|MYST2_uc010wme.1_Missense_Mutation_p.A403S|MYST2_uc010wmf.1_Missense_Mutation_p.A254S|MYST2_uc010wmg.1_Missense_Mutation_p.A144S	p.A589S	NM_007067	NP_008998	O95251	MYST2_HUMAN			15	1891	+			589					B3KN74|B4DF85|B4DFB4|B4DFE0|B4DGY4|E7ER15|G5E9K7	Missense_Mutation	SNP	ENST00000259021.4	37	c.1765G>T	CCDS11554.1	.	.	.	.	.	.	.	.	.	.	G	12.86	2.064970	0.36470	.	.	ENSG00000136504	ENST00000259021;ENST00000454930;ENST00000509773;ENST00000510819;ENST00000424009;ENST00000503935;ENST00000435742	.	.	.	5.27	5.27	0.74061	.	0.161199	0.56097	D	0.000034	T	0.50497	0.1619	N	0.25201	0.72	0.48395	D	0.999647	B;B;B;B;B	0.10296	0.001;0.0;0.003;0.002;0.002	B;B;B;B;B	0.12837	0.005;0.001;0.005;0.008;0.008	T	0.38436	-0.9661	9	0.25106	T	0.35	-11.9019	18.6812	0.91547	0.0:0.0:1.0:0.0	.	552;420;479;450;589	B4DGY4;B4DFE0;B4DFB4;E7ER15;O95251	.;.;.;.;KAT7_HUMAN	S	589;450;479;420;559;433;403	.	ENSP00000259021:A589S	A	+	1	0	KAT7	45259792	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.293000	0.72731	2.758000	0.94735	0.561000	0.74099	GCC		0.453	KAT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366032.1	NM_007067		23	53	1	0	3.01185e-09	0.003954	3.80067e-09	23	53				
KIF2B	84643	broad.mit.edu	37	17	51901330	51901330	+	Silent	SNP	C	C	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr17:51901330C>T	ENST00000268919.4	+	1	1092	c.936C>T	c.(934-936)acC>acT	p.T312T		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	312	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.T312T(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AGACGTACACCATGGGTGGAG	0.542																																							uc002iua.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(5)|skin(3)	8						c.(934-936)ACC>ACT		kinesin family member 2B							100.0	93.0	96.0					17																	51901330		2203	4300	6503	SO:0001819	synonymous_variant	84643				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	g.chr17:51901330C>T	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.936C>T	17.37:g.51901330C>T						uc010wna.1_RNA	p.T312T	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN			1	1092	+			312			Kinesin-motor.		Q96MA2|Q9BXG6	Silent	SNP	ENST00000268919.4	37	c.936C>T	CCDS32685.1																																																																																				0.542	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		65	88	0	0	0	0.01441	0	65	88				
ESCO1	114799	broad.mit.edu	37	18	19110322	19110322	+	Silent	SNP	A	A	G			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr18:19110322A>G	ENST00000269214.5	-	12	3442	c.2505T>C	c.(2503-2505)aaT>aaC	p.N835N		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	835					mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|regulation of DNA replication (GO:0006275)|sister chromatid cohesion (GO:0007062)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|transferase activity, transferring acyl groups (GO:0016746)	p.N835N(1)		breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						TATTCTGTCCATTAATAAAAT	0.398																																							uc002kth.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(2503-2505)AAT>AAC		establishment of cohesion 1 homolog 1							58.0	62.0	61.0					18																	19110322		2203	4300	6503	SO:0001819	synonymous_variant	114799				cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding	g.chr18:19110322A>G	AL832041	CCDS32800.1	18q11.2	2013-05-02	2013-05-02		ENSG00000141446	ENSG00000141446			24645	protein-coding gene	gene with protein product		609674	"""establishment of cohesion 1 homolog 1 (S. cerevisiae)"""			11572484, 14576321, 15958495	Standard	NM_052911		Approved	ESO1, EFO1, KIAA1911	uc002kth.1	Q5FWF5		ENST00000269214.5:c.2505T>C	18.37:g.19110322A>G						ESCO1_uc002kti.1_RNA	p.N835N	NM_052911	NP_443143	Q5FWF5	ESCO1_HUMAN			12	3439	-			835					B0YJ11|B0YJ12|Q69YG4|Q69YS3|Q6IMD7|Q8N3Z5|Q8NBG2|Q96PX7	Silent	SNP	ENST00000269214.5	37	c.2505T>C	CCDS32800.1																																																																																				0.398	ESCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443942.1	NM_052911		10	109	0	0	0	0.008291	0	10	109				
LAMA3	3909	broad.mit.edu	37	18	21513860	21513860	+	Silent	SNP	T	T	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr18:21513860T>A	ENST00000313654.9	+	67	9064	c.8823T>A	c.(8821-8823)tcT>tcA	p.S2941S	LAMA3_ENST00000399516.3_Silent_p.S2885S|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Silent_p.S1276S|LAMA3_ENST00000269217.6_Silent_p.S1332S	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2941					cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)	p.S1332S(1)|p.S2941S(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					TTAAAGGTTCTACCAGGTTTA	0.468																																							uc002kuq.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(8)|skin(2)|central_nervous_system(1)	11						c.(8821-8823)TCT>TCA		laminin alpha 3 subunit isoform 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						118.0	104.0	109.0					18																	21513860		2203	4300	6503	SO:0001819	synonymous_variant	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21513860T>A	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.8823T>A	18.37:g.21513860T>A						LAMA3_uc002kur.2_Silent_p.S2885S|LAMA3_uc002kus.3_Silent_p.S1332S|LAMA3_uc002kut.3_Silent_p.S1276S	p.S2941S	NM_198129	NP_937762	Q16787	LAMA3_HUMAN			67	8909	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		2941					B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Silent	SNP	ENST00000313654.9	37	c.8823T>A	CCDS42419.1																																																																																				0.468	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		21	94	0	0	0	0.016522	0	21	94				
EEF2	1938	broad.mit.edu	37	19	3976626	3976627	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr19:3976626_3976627CC>AA	ENST00000309311.6	-	15	2590_2591	c.2502_2503GG>TT	c.(2500-2505)gtGGtg>gtTTtg	p.V835L		NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	835					cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|positive regulation of gene expression (GO:0010628)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation activator activity (GO:0008494)|translation elongation factor activity (GO:0003746)	p.V835L(1)		endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCTCCGCCACCACCTGGCTGG	0.658																																					Colon(165;1804 1908 4071 6587 18799)	Colon(165;1804 1908 4071 6587 18799)	uc002lze.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(2500-2505)GTGGTG>GTTTTG		eukaryotic translation elongation factor 2																																				SO:0001583	missense	1938					cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr19:3976626_3976627CC>AA	Z11692	CCDS12117.1	19p13.3	2012-09-20			ENSG00000167658	ENSG00000167658			3214	protein-coding gene	gene with protein product	"""polypeptidyl-tRNA translocase"""	130610		EF2		2610926, 6427766	Standard	NM_001961		Approved	EEF-2	uc002lze.3	P13639		ENST00000309311.6:c.2502_2503delinsAA	19.37:g.3976626_3976627delinsAA	ENSP00000307940:p.Val835Leu						p.V835L	NM_001961	NP_001952	P13639	EF2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)	15	2585_2586	-		Hepatocellular(1079;0.137)	835					B2RMP5|D6W618|Q58J86	Missense_Mutation	DNP	ENST00000309311.6	37	c.2502_2503GG>TT	CCDS12117.1																																																																																				0.658	EEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457615.2	NM_001961		7	7	0	0	0	0.004672	0	7	7				
ELAVL3	1995	broad.mit.edu	37	19	11569323	11569323	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr19:11569323G>T	ENST00000359227.3	-	4	861	c.437C>A	c.(436-438)tCc>tAc	p.S146Y	ELAVL3_ENST00000438662.2_Missense_Mutation_p.S146Y	NM_001420.3|NM_032281.2	NP_001411.2|NP_115657.2	Q14576	ELAV3_HUMAN	ELAV like neuron-specific RNA binding protein 3	146	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)		AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)	p.S146Y(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						GCCGTACTGGGAGAAGAGCTG	0.622																																							uc002mry.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|skin(1)	3						c.(436-438)TCC>TAC		ELAV-like protein 3 isoform 1							135.0	116.0	122.0					19																	11569323		2203	4300	6503	SO:0001583	missense	1995				cell differentiation|nervous system development		AU-rich element binding|nucleotide binding	g.chr19:11569323G>T		CCDS32912.1, CCDS45978.1	19p13.2	2013-10-03	2013-10-03			ENSG00000196361		"""RNA binding motif (RRM) containing"""	3314	protein-coding gene	gene with protein product	"""Hu antigen C"", ""paraneoplastic limbic encephalitis antigen 21"", ""paraneoplastic cerebellar degeneration-associated antigen"", ""ELAV-like protein 3"""	603458	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 3 (Hu antigen C)"""			9799595	Standard	NM_001420		Approved	HUC, PLE21, DKFZp547J036, HUCL, MGC20653	uc002mry.1	Q14576		ENST00000359227.3:c.437C>A	19.37:g.11569323G>T	ENSP00000352162:p.Ser146Tyr					ELAVL3_uc002mrx.1_Missense_Mutation_p.S146Y	p.S146Y	NM_001420	NP_001411	Q14576	ELAV3_HUMAN			4	817	-			146			RRM 2.		Q16135|Q96CL8|Q96QS9	Missense_Mutation	SNP	ENST00000359227.3	37	c.437C>A	CCDS32912.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.839803	0.91117	.	.	ENSG00000196361	ENST00000359227;ENST00000438662	T;T	0.19938	2.11;2.11	4.96	4.96	0.65561	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.46405	0.1391	M	0.68317	2.08	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.965	T	0.47911	-0.9080	10	0.87932	D	0	.	16.9656	0.86285	0.0:0.0:1.0:0.0	.	146;146	Q14576;Q14576-2	ELAV3_HUMAN;.	Y	146	ENSP00000352162:S146Y;ENSP00000390878:S146Y	ENSP00000352162:S146Y	S	-	2	0	ELAVL3	11430323	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.719000	0.98760	2.311000	0.77944	0.491000	0.48974	TCC		0.622	ELAVL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458827.2	NM_001420		59	87	1	0	2.01871e-26	0.01441	3.22264e-26	59	87				
LOC105372277	105372277	broad.mit.edu	37	19	12491639	12491639	+	3'UTR	SNP	A	A	G	rs59301182	byFrequency	TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr19:12491639A>G	ENST00000435033.1	-	0	956																											ACATTCATACAGTTTCTCCCC	0.368													N|||	1668	0.333067	0.4455	0.3588	5008	,	,		21303	0.0754		0.4384	False		,,,				2504	0.32						uc002mts.3		NA																	0				breast(3)|ovary(2)|skin(1)	6						c.(436-438)CTG>CCG		Homo sapiens cDNA clone IMAGE:30340957, **** WARNING: chimeric clone ****.																																				SO:0001624	3_prime_UTR_variant	90576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12491639A>G																												ENST00000435033.1:c.*612T>C	19.37:g.12491639A>G							p.L146P			Q96GE5	ZN799_HUMAN			4	903	-			252	L -> P (in Ref. 1; AL832890).					Missense_Mutation	SNP	ENST00000435033.1	37	c.437T>C																																																																																					0.368	CTD-3105H18.14-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	protein_coding	OTTHUMT00000344100.1			5	78	0	0	0	0.014758	0	5	78				
LOC105372277	105372277	broad.mit.edu	37	19	12491654	12491654	+	3'UTR	SNP	C	C	T	rs57371898	byFrequency	TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr19:12491654C>T	ENST00000435033.1	-	0	941																											CTCCCCAGTACGTGTTCTTTC	0.373													t|||	1633	0.326078	0.4259	0.3473	5008	,	,		21272	0.0754		0.4374	False		,,,				2504	0.32						uc002mts.3		NA																	0				breast(3)|ovary(2)|skin(1)	6						c.(421-423)CGT>CAT		Homo sapiens cDNA clone IMAGE:30340957, **** WARNING: chimeric clone ****.																																				SO:0001624	3_prime_UTR_variant	90576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12491654C>T																												ENST00000435033.1:c.*597G>A	19.37:g.12491654C>T							p.R141H			Q96GE5	ZN799_HUMAN			4	888	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						Missense_Mutation	SNP	ENST00000435033.1	37	c.422G>A																																																																																					0.373	CTD-3105H18.14-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	protein_coding	OTTHUMT00000344100.1			4	73	0	0	0	0.009096	0	4	73				
GIPC1	10755	broad.mit.edu	37	19	14591185	14591185	+	Missense_Mutation	SNP	C	C	A	rs147512845		TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr19:14591185C>A	ENST00000393033.4	-	6	856	c.587G>T	c.(586-588)cGg>cTg	p.R196L	GIPC1_ENST00000586027.1_Missense_Mutation_p.R196L|GIPC1_ENST00000393029.3_Missense_Mutation_p.R99L|GIPC1_ENST00000393028.1_Missense_Mutation_p.R99L|GIPC1_ENST00000345425.2_Missense_Mutation_p.R196L|GIPC1_ENST00000591349.1_Missense_Mutation_p.R99L	NM_005716.3	NP_005707.1	O14908	GIPC1_HUMAN	GIPC PDZ domain containing family, member 1	196	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|glutamate secretion (GO:0014047)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of cytokinesis (GO:0032467)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein targeting (GO:0006605)|regulation of protein stability (GO:0031647)|regulation of synaptic plasticity (GO:0048167)|synaptic transmission (GO:0007268)	brush border (GO:0005903)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|myosin binding (GO:0017022)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R196L(1)		endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						CTTGAGCAGCCGGGCCACCTC	0.672											OREG0025316	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Pancreas(33;78 923 2910 41023 52850)	Pancreas(33;78 923 2910 41023 52850)	uc002myt.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(586-588)CGG>CTG		regulator of G-protein signalling 19 interacting							50.0	52.0	51.0					19																	14591185		2203	4299	6502	SO:0001583	missense	10755				endothelial cell migration|G-protein coupled receptor protein signaling pathway|glutamate secretion|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|protein targeting|regulation of protein stability|regulation of synaptic plasticity|synaptic transmission	cell cortex|dendritic shaft|dendritic spine|membrane fraction|soluble fraction|synaptic vesicle|vesicle membrane	actin binding|myosin binding|protein homodimerization activity|receptor binding	g.chr19:14591185C>A	AF089816	CCDS12310.1, CCDS12311.1	19p13.1	2009-09-22	2005-06-28	2005-06-28					1226	protein-coding gene	gene with protein product		605072	"""chromosome 19 open reading frame 3"", ""regulator of G-protein signalling 19 interacting protein 1"""	C19orf3, RGS19IP1		9770488, 9482110	Standard	NM_005716		Approved	TIP-2, Hs.6454, GIPC, SEMCAP, GLUT1CBP, SYNECTIN, NIP	uc002myx.4	O14908		ENST00000393033.4:c.587G>T	19.37:g.14591185C>A	ENSP00000376753:p.Arg196Leu		OREG0025316	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	696	GIPC1_uc002myu.2_Missense_Mutation_p.R196L|GIPC1_uc002myv.2_Missense_Mutation_p.R99L|GIPC1_uc002myw.2_Missense_Mutation_p.R99L|GIPC1_uc002myx.2_Missense_Mutation_p.R196L|GIPC1_uc002myy.2_Missense_Mutation_p.R99L	p.R196L	NM_005716	NP_005707	O14908	GIPC1_HUMAN			6	857	-			196			PDZ.		A8K4I3|A8MZG3|Q9BTC9	Missense_Mutation	SNP	ENST00000393033.4	37	c.587G>T	CCDS12310.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.883191	0.91740	.	.	ENSG00000123159	ENST00000393033;ENST00000345425;ENST00000393029;ENST00000393028;ENST00000351277	T;T;T;T	0.39592	1.07;1.07;1.07;1.07	4.96	3.85	0.44370	PDZ/DHR/GLGF (4);	0.109676	0.64402	D	0.000018	T	0.55862	0.1947	M	0.78456	2.415	0.53688	D	0.999974	P	0.42908	0.793	P	0.54924	0.764	T	0.60073	-0.7334	10	0.87932	D	0	-23.7435	8.0232	0.30421	0.0:0.8426:0.0:0.1574	.	196	O14908	GIPC1_HUMAN	L	196;196;99;99;196	ENSP00000376753:R196L;ENSP00000340698:R196L;ENSP00000376749:R99L;ENSP00000376748:R99L	ENSP00000340698:R196L	R	-	2	0	GIPC1	14452185	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.372000	0.44257	2.311000	0.77944	0.561000	0.74099	CGG		0.672	GIPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460239.2			31	37	1	0	6.00712e-18	0.012213	8.74663e-18	31	37				
RYR1	6261	broad.mit.edu	37	19	38949877	38949877	+	Silent	SNP	C	C	G			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr19:38949877C>G	ENST00000359596.3	+	19	2259	c.2259C>G	c.(2257-2259)tcC>tcG	p.S753S	RYR1_ENST00000355481.4_Silent_p.S753S|RYR1_ENST00000360985.3_Silent_p.S753S			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	753	B30.2/SPRY 1. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.S753S(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GCGTGCCGTCCATCTCCTTCC	0.622																																							uc002oit.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12						c.(2257-2259)TCC>TCG		skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)						120.0	95.0	104.0					19																	38949877		2203	4300	6503	SO:0001819	synonymous_variant	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38949877C>G	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.2259C>G	19.37:g.38949877C>G						RYR1_uc002oiu.2_Silent_p.S753S	p.S753S	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		19	2389	+	all_cancers(60;7.91e-06)		753			Cytoplasmic.|B30.2/SPRY 1.		Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	c.2259C>G	CCDS33011.1																																																																																				0.622	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			12	39	0	0	0	0.010504	0	12	39				
ARHGEF1	9138	broad.mit.edu	37	19	42399487	42399487	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr19:42399487G>A	ENST00000354532.3	+	12	1091	c.943G>A	c.(943-945)Ggg>Agg	p.G315R	ARHGEF1_ENST00000337665.4_Missense_Mutation_p.G330R|ARHGEF1_ENST00000599846.1_Missense_Mutation_p.G315R|ARHGEF1_ENST00000347545.4_Missense_Mutation_p.G282R|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.G297R	NM_004706.3	NP_004697.2	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	315					cell proliferation (GO:0008283)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of axonogenesis (GO:0050770)|Rho protein signal transduction (GO:0007266)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|poly(A) RNA binding (GO:0044822)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.G330R(1)		breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		CCGGAATATCGGGGCTCCTGG	0.637																																							uc002orx.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)	4						c.(943-945)GGG>AGG		Rho guanine nucleotide exchange factor 1 isoform							73.0	80.0	77.0					19																	42399487		2203	4300	6503	SO:0001583	missense	9138				cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr19:42399487G>A	U64105	CCDS12590.1, CCDS12591.1, CCDS12592.1	19q13.13	2014-06-19			ENSG00000076928	ENSG00000076928		"""Rho guanine nucleotide exchange factors"""	681	protein-coding gene	gene with protein product		601855				8810315, 9135076	Standard	NM_004706		Approved	P115-RHOGEF, SUB1.5, LBCL2	uc002osa.3	Q92888	OTTHUMG00000182679	ENST00000354532.3:c.943G>A	19.37:g.42399487G>A	ENSP00000346532:p.Gly315Arg					ARHGEF1_uc002orw.1_Missense_Mutation_p.G315R|ARHGEF1_uc002ory.2_Missense_Mutation_p.G282R|ARHGEF1_uc002orz.2_Missense_Mutation_p.G153R|ARHGEF1_uc002osa.2_Missense_Mutation_p.G330R|ARHGEF1_uc002osb.2_Missense_Mutation_p.G297R|ARHGEF1_uc002osc.2_Missense_Mutation_p.G9R|ARHGEF1_uc002osd.2_5'Flank	p.G315R	NM_004706	NP_004697	Q92888	ARHG1_HUMAN		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)	12	1052	+		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)	315					O00513|Q8N4J4|Q96BF4|Q96F17|Q9BSB1	Missense_Mutation	SNP	ENST00000354532.3	37	c.943G>A	CCDS12591.1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.200074	0.58126	.	.	ENSG00000076928	ENST00000354532;ENST00000347545;ENST00000316079;ENST00000337665;ENST00000378152	T;T;T;T	0.64260	0.06;0.04;0.06;-0.09	4.99	4.99	0.66335	.	0.140192	0.48286	D	0.000195	T	0.68906	0.3052	L	0.29908	0.895	0.23893	N	0.996545	D;D;D;P;D	0.89917	1.0;1.0;1.0;0.875;1.0	D;D;D;B;D	0.97110	0.981;0.992;1.0;0.213;0.999	T	0.62723	-0.6794	10	0.66056	D	0.02	-32.5117	14.191	0.65637	0.0:0.0:1.0:0.0	.	297;330;282;315;375	Q6NX52;Q92888-3;Q92888-2;Q92888;Q8NF33	.;.;.;ARHG1_HUMAN;.	R	315;282;351;330;297	ENSP00000346532:G315R;ENSP00000344429:G282R;ENSP00000337261:G330R;ENSP00000367394:G297R	ENSP00000323044:G351R	G	+	1	0	ARHGEF1	47091327	0.998000	0.40836	0.156000	0.22583	0.346000	0.29079	4.360000	0.59455	2.490000	0.84030	0.555000	0.69702	GGG		0.637	ARHGEF1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000463360.1	NM_199002		12	114	0	0	0	0.001855	0	12	114				
PSG7	5676	broad.mit.edu	37	19	43441198	43441198	+	RNA	SNP	G	G	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr19:43441198G>T	ENST00000406070.2	-	0	127				PSG7_ENST00000471557.1_RNA|PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				GTTATATGCTGTGTGCAGGGA	0.572																																							uc002ovl.3		NA																	0					0						c.(31-33)CAG>AAG		pregnancy specific beta-1-glycoprotein 7							94.0	90.0	91.0					19																	43441198		2201	4299	6500			5676				female pregnancy	extracellular region		g.chr19:43441198G>T			19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9524	protein-coding gene	gene with protein product		176396	"""pregnancy specific beta-1-glycoprotein 7"""				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43441198G>T						PSG3_uc002ouf.2_5'Flank|PSG11_uc002ouw.2_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG7_uc010xwl.1_Missense_Mutation_p.Q11K	p.Q11K	NM_002783	NP_002774	Q13046	PSG7_HUMAN			1	133	-		Prostate(69;0.00682)	11					Q15232	Missense_Mutation	SNP	ENST00000406070.2	37	c.31C>A																																																																																					0.572	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	NM_001206650		59	73	1	0	6.07242e-22	0.01441	9.35577e-22	59	73				
PSG11	5680	broad.mit.edu	37	19	43523176	43523176	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr19:43523176G>T	ENST00000401740.1	-	3	558	c.455C>A	c.(454-456)tCc>tAc	p.S152Y	PSG11_ENST00000403486.1_Missense_Mutation_p.S30Y|PSG11_ENST00000320078.7_Missense_Mutation_p.S152Y|PSG11_ENST00000595312.1_5'UTR|PSG11_ENST00000306322.7_Missense_Mutation_p.S30Y			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 11	152	Ig-like C2-type 1.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.S152Y(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				GTTGCTGCTGGAGATGGAGGG	0.502																																							uc002ovm.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(454-456)TCC>TAC		pregnancy specific beta-1-glycoprotein 11							162.0	169.0	167.0					19																	43523176		2199	4297	6496	SO:0001583	missense	5680				female pregnancy	extracellular region		g.chr19:43523176G>T	U25988	CCDS12614.2, CCDS12615.2	19q13.2	2013-01-29			ENSG00000243130	ENSG00000243130		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9516	protein-coding gene	gene with protein product	"""pregnancy specific beta-1-glycoprotein 13"""	176401		PSG13, PSG14		7794280	Standard	NM_001113410		Approved	MGC22484	uc002ovm.1	Q9UQ72	OTTHUMG00000151546	ENST00000401740.1:c.455C>A	19.37:g.43523176G>T	ENSP00000384995:p.Ser152Tyr					PSG11_uc002ouw.2_Missense_Mutation_p.S158Y|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Missense_Mutation_p.S158Y|PSG11_uc002ovn.1_Missense_Mutation_p.S158Y|PSG11_uc002ovo.1_Missense_Mutation_p.S30Y|PSG11_uc002ovp.1_Missense_Mutation_p.S30Y	p.S152Y	NM_002785	NP_002776	Q9UQ72	PSG11_HUMAN			3	562	-		Prostate(69;0.00682)	152			Ig-like C2-type 1.		B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Missense_Mutation	SNP	ENST00000401740.1	37	c.455C>A	CCDS12614.2	.	.	.	.	.	.	.	.	.	.	g	11.26	1.587071	0.28268	.	.	ENSG00000243130	ENST00000320078;ENST00000403486;ENST00000306322;ENST00000401740	T;T;T;T	0.14266	2.52;2.52;2.52;2.52	1.13	-0.0168	0.13970	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.28300	0.0699	M	0.69823	2.125	0.09310	N	1	D;D	0.71674	0.998;0.99	D;D	0.81914	0.995;0.99	T	0.10870	-1.0611	9	0.87932	D	0	.	2.9657	0.05907	0.3546:0.0:0.6454:0.0	.	30;152	Q9UQ72-2;Q9UQ72	.;PSG11_HUMAN	Y	152;30;30;152	ENSP00000319140:S152Y;ENSP00000385427:S30Y;ENSP00000304913:S30Y;ENSP00000384995:S152Y	ENSP00000304913:S30Y	S	-	2	0	PSG11	48215016	0.004000	0.15560	0.005000	0.12908	0.143000	0.21401	0.706000	0.25690	0.567000	0.29293	0.184000	0.17185	TCC		0.502	PSG11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323079.1	NM_002785		45	181	1	0	1.00776e-21	0.01441	1.52603e-21	45	181				
EHD2	30846	broad.mit.edu	37	19	48244176	48244176	+	Silent	SNP	G	G	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr19:48244176G>T	ENST00000263277.3	+	6	1370	c.1119G>T	c.(1117-1119)tcG>tcT	p.S373S	EHD2_ENST00000538399.1_Silent_p.S237S|EHD2_ENST00000540884.1_3'UTR	NM_014601.3	NP_055416.2	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	373					blood coagulation (GO:0007596)|cortical actin cytoskeleton organization (GO:0030866)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein localization to plasma membrane (GO:0072659)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)	p.S373S(1)		endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		AGTTTCACTCGCTGAAGCCGA	0.637																																							uc002phj.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1117-1119)TCG>TCT		EH-domain containing 2							41.0	35.0	37.0					19																	48244176		2203	4300	6503	SO:0001819	synonymous_variant	30846				blood coagulation|endocytic recycling	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding	g.chr19:48244176G>T	AF181263	CCDS12704.1	19q13.3	2014-08-12			ENSG00000024422	ENSG00000024422		"""EF-hand domain containing"""	3243	protein-coding gene	gene with protein product		605890		PAST2		10673336	Standard	NM_014601		Approved		uc002phj.4	Q9NZN4	OTTHUMG00000183266	ENST00000263277.3:c.1119G>T	19.37:g.48244176G>T						EHD2_uc010xyu.1_Silent_p.S237S|EHD2_uc010xyv.1_Silent_p.S56S	p.S373S	NM_014601	NP_055416	Q9NZN4	EHD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)	6	1369	+		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)	373					B2RDH9|B4DNU6|Q96CB6	Silent	SNP	ENST00000263277.3	37	c.1119G>T	CCDS12704.1																																																																																				0.637	EHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465851.1			16	28	1	0	6.94344e-10	0.006122	8.88895e-10	16	28				
NLRP5	126206	broad.mit.edu	37	19	56539800	56539800	+	Missense_Mutation	SNP	G	G	C	rs569117346	byFrequency	TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr19:56539800G>C	ENST00000390649.3	+	7	2201	c.2201G>C	c.(2200-2202)cGg>cCg	p.R734P		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	734					cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)	p.R734P(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CCGTATTTGCGGAAAATTCGG	0.507																																							uc002qmj.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7						c.(2200-2202)CGG>CCG		NACHT, LRR and PYD containing protein 5							149.0	149.0	149.0					19																	56539800		2010	4185	6195	SO:0001583	missense	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56539800G>C	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"""Nucleotide-binding domain and leucine rich repeat containing"""	21269	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"""	609658	"""NACHT, leucine rich repeat and PYD containing 5"""	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.2201G>C	19.37:g.56539800G>C	ENSP00000375063:p.Arg734Pro					NLRP5_uc002qmi.2_Missense_Mutation_p.R715P	p.R734P	NM_153447	NP_703148	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	7	2201	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	734			LRR 2.		A8MTY4|Q86W29	Missense_Mutation	SNP	ENST00000390649.3	37	c.2201G>C	CCDS12938.1	.	.	.	.	.	.	.	.	.	.	G	13.11	2.138416	0.37728	.	.	ENSG00000171487	ENST00000390649	D	0.89552	-2.53	3.26	-6.51	0.01878	.	2.283940	0.02282	N	0.069451	D	0.92133	0.7506	M	0.65975	2.015	0.09310	N	1	D	0.62365	0.991	P	0.61201	0.885	D	0.87147	0.2206	10	0.66056	D	0.02	.	11.8603	0.52461	0.7832:0.0:0.2168:0.0	.	734	P59047	NALP5_HUMAN	P	734	ENSP00000375063:R734P	ENSP00000375063:R734P	R	+	2	0	NLRP5	61231612	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.490000	0.02304	-1.496000	0.01828	-0.997000	0.02515	CGG		0.507	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		97	138	0	0	0	0.01441	0	97	138				
SOX11	6664	broad.mit.edu	37	2	5833563	5833563	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr2:5833563T>A	ENST00000322002.3	+	1	765	c.710T>A	c.(709-711)cTg>cAg	p.L237Q	AC108025.2_ENST00000420221.1_RNA|AC108025.2_ENST00000453678.1_RNA|AC107057.2_ENST00000458264.1_RNA|AC010729.1_ENST00000455579.2_RNA	NM_003108.3	NP_003099.1	P35716	SOX11_HUMAN	SRY (sex determining region Y)-box 11	237					cardiac ventricle formation (GO:0003211)|closure of optic fissure (GO:0061386)|cornea development in camera-type eye (GO:0061303)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|eyelid development in camera-type eye (GO:0061029)|glial cell development (GO:0021782)|glial cell proliferation (GO:0014009)|hard palate development (GO:0060022)|kidney development (GO:0001822)|lens morphogenesis in camera-type eye (GO:0002089)|limb bud formation (GO:0060174)|lung morphogenesis (GO:0060425)|negative regulation of cell death (GO:0060548)|negative regulation of gene expression (GO:0010629)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of lymphocyte proliferation (GO:0050672)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|neural crest cell development (GO:0014032)|neural tube formation (GO:0001841)|neuroepithelial cell differentiation (GO:0060563)|neuron differentiation (GO:0030182)|noradrenergic neuron differentiation (GO:0003357)|oligodendrocyte development (GO:0014003)|outflow tract morphogenesis (GO:0003151)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of hippo signaling (GO:0035332)|positive regulation of hormone secretion (GO:0046887)|positive regulation of lens epithelial cell proliferation (GO:2001111)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|signal transduction involved in cell cycle checkpoint (GO:0072395)|skeletal muscle cell differentiation (GO:0035914)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)|somite development (GO:0061053)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|translation (GO:0006412)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|translation factor activity, nucleic acid binding (GO:0008135)	p.L237Q(1)		central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)		gaGCTGCAGCTGCAGATCAAA	0.687																																							uc002qyj.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)	3						c.(709-711)CTG>CAG		SRY-box 11							12.0	11.0	12.0					2																	5833563		2083	4171	6254	SO:0001583	missense	6664				cardiac ventricle formation|closure of optic fissure|cornea development in camera-type eye|embryonic digestive tract morphogenesis|embryonic skeletal system morphogenesis|eyelid development in camera-type eye|glial cell proliferation|hard palate development|lens morphogenesis in camera-type eye|limb bud formation|lung morphogenesis|negative regulation of cell death|negative regulation of glial cell proliferation|negative regulation of lymphocyte proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|neural crest cell development|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|outflow tract morphogenesis|positive regulation of BMP signaling pathway|positive regulation of hippo signaling cascade|positive regulation of hormone secretion|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of ossification|positive regulation of osteoblast differentiation|positive regulation of stem cell proliferation|regulation of transforming growth factor beta receptor signaling pathway|signal transduction involved in G1/S transition checkpoint|soft palate development|somite development|spinal cord development|sympathetic nervous system development|ventricular septum morphogenesis	cytoplasm|nucleolus	enhancer sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|translation factor activity, nucleic acid binding	g.chr2:5833563T>A		CCDS1654.1	2p25	2008-05-21			ENSG00000176887	ENSG00000176887		"""SRY (sex determining region Y)-boxes"""	11191	protein-coding gene	gene with protein product	"""SRY-related HMG-box gene 11"""	600898				8666406, 12637543	Standard	NM_003108		Approved		uc002qyj.3	P35716	OTTHUMG00000090333	ENST00000322002.3:c.710T>A	2.37:g.5833563T>A	ENSP00000322568:p.Leu237Gln						p.L237Q	NM_003108	NP_003099	P35716	SOX11_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.132)	1	765	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		237					Q4ZFV8	Missense_Mutation	SNP	ENST00000322002.3	37	c.710T>A	CCDS1654.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.164946	0.78339	.	.	ENSG00000176887	ENST00000322002	D	0.98135	-4.74	4.1	4.1	0.47936	.	1.068010	0.07507	U	0.908140	D	0.96200	0.8761	L	0.42245	1.32	0.36943	D	0.892466	B	0.22909	0.077	B	0.31686	0.134	D	0.90327	0.4349	10	0.28530	T	0.3	.	13.3653	0.60680	0.0:0.0:0.0:1.0	.	237	P35716	SOX11_HUMAN	Q	237	ENSP00000322568:L237Q	ENSP00000322568:L237Q	L	+	2	0	SOX11	5751014	1.000000	0.71417	0.986000	0.45419	0.985000	0.73830	4.656000	0.61483	1.608000	0.50180	0.391000	0.25812	CTG		0.687	SOX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206698.1	NM_003108		6	1	0	0	0	0.010729	0	6	1				
BIRC6	57448	broad.mit.edu	37	2	32688372	32688372	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr2:32688372C>T	ENST00000421745.2	+	24	4998	c.4864C>T	c.(4864-4866)Cat>Tat	p.H1622Y		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1622					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)	p.H1622Y(1)|p.H1594Y(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GTCTCTCTCTCATGCAATGGC	0.532																																					Pancreas(94;175 1509 16028 18060 45422)	Pancreas(94;175 1509 16028 18060 45422)	uc010ezu.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14						c.(4864-4866)CAT>TAT		baculoviral IAP repeat-containing 6							73.0	68.0	70.0					2																	32688372		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32688372C>T	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.4864C>T	2.37:g.32688372C>T	ENSP00000393596:p.His1622Tyr						p.H1622Y	NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN			24	4998	+	Acute lymphoblastic leukemia(172;0.155)		1622					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.4864C>T	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	C	22.4	4.278697	0.80692	.	.	ENSG00000115760	ENST00000421745	T	0.74421	-0.84	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.69824	0.3154	L	0.31065	0.9	0.58432	D	0.999992	D	0.53885	0.963	B	0.44224	0.444	T	0.72440	-0.4293	10	0.54805	T	0.06	.	20.3343	0.98733	0.0:1.0:0.0:0.0	.	1622	Q9NR09	BIRC6_HUMAN	Y	1622	ENSP00000393596:H1622Y	ENSP00000393596:H1622Y	H	+	1	0	BIRC6	32541876	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.920000	0.70017	2.822000	0.97130	0.650000	0.86243	CAT		0.532	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		9	36	0	0	0	0.006214	0	9	36				
DGUOK	1716	broad.mit.edu	37	2	74166086	74166086	+	Silent	SNP	A	A	G			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr2:74166086A>G	ENST00000264093.4	+	2	277	c.192A>G	c.(190-192)gaA>gaG	p.E64E	DGUOK_ENST00000348222.1_Silent_p.E64E|DGUOK_ENST00000356837.6_Intron|DGUOK_ENST00000462685.1_Intron	NM_080916.2	NP_550438.1	Q16854	DGUOK_HUMAN	deoxyguanosine kinase	64					deoxyribonucleoside monophosphate biosynthetic process (GO:0009157)|dGTP metabolic process (GO:0046070)|guanosine metabolic process (GO:0008617)|negative regulation of neuron projection development (GO:0010977)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide biosynthetic process (GO:0009165)|protein phosphorylation (GO:0006468)|purine deoxyribonucleoside metabolic process (GO:0046122)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|deoxyguanosine kinase activity (GO:0004138)|nucleoside kinase activity (GO:0019206)	p.E64E(1)		endometrium(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	8					Nelarabine(DB01280)	CTTACCCAGAATGGCACGTAG	0.473																																							uc002sjx.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(190-192)GAA>GAG		deoxyguanosine kinase isoform a precursor							143.0	128.0	133.0					2																	74166086		2203	4300	6503	SO:0001819	synonymous_variant	1716				guanosine metabolic process|purine base metabolic process|purine deoxyribonucleoside metabolic process|purine-containing compound salvage	mitochondrial matrix	ATP binding|deoxyguanosine kinase activity|phosphotransferase activity, alcohol group as acceptor	g.chr2:74166086A>G	U41668	CCDS1931.1, CCDS1932.1	2p13	2008-02-05			ENSG00000114956	ENSG00000114956	2.7.1.113		2858	protein-coding gene	gene with protein product		601465					Standard	NM_080916		Approved	dGK	uc002sjx.3	Q16854	OTTHUMG00000129819	ENST00000264093.4:c.192A>G	2.37:g.74166086A>G						DGUOK_uc002sjy.2_Silent_p.E64E|DGUOK_uc002sjz.2_Intron	p.E64E	NM_080916	NP_550438	Q16854	DGUOK_HUMAN			2	277	+			64					P78532|Q16759|Q4ZG09|Q7L1W9|Q96BC1	Silent	SNP	ENST00000264093.4	37	c.192A>G	CCDS1931.1																																																																																				0.473	DGUOK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252050.1			22	146	0	0	0	0.004656	0	22	146				
NCKAP5	344148	broad.mit.edu	37	2	133540623	133540623	+	Missense_Mutation	SNP	G	G	T	rs200887045		TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr2:133540623G>T	ENST00000409261.1	-	14	4134	c.3761C>A	c.(3760-3762)tCc>tAc	p.S1254Y	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000473859.1_5'Flank|NCKAP5_ENST00000317721.6_Missense_Mutation_p.S1254Y	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1254								p.S1254Y(1)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GGAGGAAAGGGATCTTCTCAT	0.517																																							uc002ttp.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(3760-3762)TCC>TAC		Nck-associated protein 5 isoform 1							129.0	126.0	127.0					2																	133540623		1993	4175	6168	SO:0001583	missense	344148						protein binding	g.chr2:133540623G>T	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.3761C>A	2.37:g.133540623G>T	ENSP00000387128:p.Ser1254Tyr					NCKAP5_uc002ttq.2_Intron	p.S1254Y	NM_207363	NP_997246	O14513	NCKP5_HUMAN			14	4135	-			1254					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	c.3761C>A	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.106494	0.77096	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.26518	1.73;1.73	5.5	5.5	0.81552	.	0.000000	0.38492	U	0.001667	T	0.42517	0.1206	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.21415	-1.0246	10	0.72032	D	0.01	.	17.7704	0.88490	0.0:0.0:1.0:0.0	.	1254	O14513	NCKP5_HUMAN	Y	1254	ENSP00000387128:S1254Y;ENSP00000380603:S1254Y	ENSP00000380603:S1254Y	S	-	2	0	NCKAP5	133257093	1.000000	0.71417	0.999000	0.59377	0.591000	0.36615	6.547000	0.73892	2.854000	0.98071	0.655000	0.94253	TCC		0.517	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		25	123	1	0	6.32553e-13	0.004656	8.64054e-13	25	123				
SLC4A10	57282	broad.mit.edu	37	2	162830770	162830770	+	Silent	SNP	T	T	C	rs374324130		TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr2:162830770T>C	ENST00000446997.1	+	24	3264	c.3171T>C	c.(3169-3171)agT>agC	p.S1057S	SLC4A10_ENST00000421911.1_Intron|SLC4A10_ENST00000272716.5_Silent_p.S1027S|SLC4A10_ENST00000415876.2_Silent_p.S1027S|SLC4A10_ENST00000375514.5_Silent_p.S1038S	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	1057				SM -> CV (in Ref. 1; BAB18301). {ECO:0000305}.	bicarbonate transport (GO:0015701)|chloride transport (GO:0006821)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|symporter activity (GO:0015293)	p.S1057S(1)|p.C1027C(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60					Sodium bicarbonate(DB01390)	AAGAACAAAGTATGCTAGCTA	0.323																																							uc002ubx.3		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)|lung(2)|pancreas(1)	5						c.(3169-3171)AGT>AGC		solute carrier family 4, sodium bicarbonate		T	,,	0,3734		0,0,1867	84.0	82.0	83.0		3171,3114,3081	4.2	1.0	2		83	1,8195		0,1,4097	no	coding-synonymous,coding-synonymous,coding-synonymous	SLC4A10	NM_001178015.1,NM_001178016.1,NM_022058.3	,,	0,1,5964	CC,CT,TT		0.0122,0.0,0.0084	,,	1057/1119,1038/1100,1027/1089	162830770	1,11929	1867	4098	5965	SO:0001819	synonymous_variant	57282				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity	g.chr2:162830770T>C		CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290		"""Solute carriers"""	13811	protein-coding gene	gene with protein product		605556	"""solute carrier family 4, sodium bicarbonate transporter-like, member 10"""			10964153, 18319254	Standard	NM_022058		Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	ENST00000446997.1:c.3171T>C	2.37:g.162830770T>C						SLC4A10_uc002uby.3_Silent_p.S1027S|SLC4A10_uc010zcs.1_Silent_p.S1038S	p.S1057S	NM_022058	NP_071341	Q6U841	S4A10_HUMAN			24	3355	+			1057	SM -> CV (in Ref. 1; BAB18301).		Cytoplasmic (Potential).		B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Silent	SNP	ENST00000446997.1	37	c.3171T>C	CCDS54411.1																																																																																				0.323	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333090.1	NM_022058		7	18	0	0	0	0.00308	0	7	18				
TTN	7273	broad.mit.edu	37	2	179577475	179577475	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr2:179577475C>T	ENST00000591111.1	-	92	26550	c.26326G>A	c.(26326-26328)Gtt>Att	p.V8776I	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V7849I|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V9093I|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	12926	Ig-like 70.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.V7849I(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCATTGCTAACTATGCAAGTA	0.393																																							uc010zfg.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(23545-23547)GTT>ATT		titin isoform N2-A							94.0	91.0	92.0					2																	179577475		1912	4122	6034	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179577475C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.26326G>A	2.37:g.179577475C>T	ENSP00000465570:p.Val8776Ile					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.V4510I	p.V7849I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		91	23769	-			8776					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.23545G>A		.	.	.	.	.	.	.	.	.	.	C	14.16	2.451606	0.43531	.	.	ENSG00000155657	ENST00000342992	T	0.70749	-0.51	5.48	5.48	0.80851	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.64371	0.2592	L	0.45228	1.405	0.80722	D	1	B	0.13594	0.008	B	0.17979	0.02	T	0.62613	-0.6817	9	0.87932	D	0	.	12.9963	0.58648	0.0:0.9258:0.0:0.0742	.	8776	Q8WZ42	TITIN_HUMAN	I	7849	ENSP00000343764:V7849I	ENSP00000343764:V7849I	V	-	1	0	TTN	179285720	0.872000	0.30054	0.940000	0.37924	0.995000	0.86356	1.602000	0.36783	2.722000	0.93159	0.655000	0.94253	GTT		0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		36	105	0	0	0	0.006999	0	36	105				
SESTD1	91404	broad.mit.edu	37	2	179986618	179986618	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr2:179986618G>C	ENST00000428443.3	-	13	1637	c.1321C>G	c.(1321-1323)Ctc>Gtc	p.L441V		NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	441							phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)	p.L441V(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			TGATCCAGGAGACCTTGACCT	0.418																																							uc002uni.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1321-1323)CTC>GTC		SEC14 and spectrin domains 1							107.0	104.0	105.0					2																	179986618		2203	4300	6503	SO:0001583	missense	91404				regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding	g.chr2:179986618G>C	AK096232	CCDS33338.1	2q31.3	2014-01-28			ENSG00000187231	ENSG00000187231			18379	protein-coding gene	gene with protein product						12837271	Standard	NM_178123		Approved	DKFZp434O0515, Solo	uc002uni.4	Q86VW0	OTTHUMG00000154554	ENST00000428443.3:c.1321C>G	2.37:g.179986618G>C	ENSP00000415332:p.Leu441Val					SESTD1_uc002unh.3_5'UTR	p.L441V	NM_178123	NP_835224	Q86VW0	SESD1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)		13	1471	-			441			Spectrin 2.		Q53R38|Q53SP3|Q5GM69|Q8N6M1|Q96LQ2	Missense_Mutation	SNP	ENST00000428443.3	37	c.1321C>G	CCDS33338.1	.	.	.	.	.	.	.	.	.	.	G	13.82	2.351941	0.41700	.	.	ENSG00000187231	ENST00000428443	T	0.11169	2.8	5.18	5.18	0.71444	.	0.120571	0.56097	D	0.000027	T	0.07863	0.0197	N	0.14661	0.345	0.51767	D	0.999933	B	0.11235	0.004	B	0.08055	0.003	T	0.34229	-0.9837	9	.	.	.	-3.8577	18.0499	0.89344	0.0:0.0:1.0:0.0	.	441	Q86VW0	SESD1_HUMAN	V	441	ENSP00000415332:L441V	.	L	-	1	0	SESTD1	179694863	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.273000	0.65564	2.584000	0.87258	0.467000	0.42956	CTC		0.418	SESTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335916.2	NM_178123		37	92	0	0	0	0.00623	0	37	92				
PDE1A	5136	broad.mit.edu	37	2	183095827	183095827	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr2:183095827G>T	ENST00000410103.1	-	6	580	c.497C>A	c.(496-498)gCc>gAc	p.A166D	PDE1A_ENST00000346717.4_Missense_Mutation_p.A132D|PDE1A_ENST00000351439.5_Missense_Mutation_p.A150D|PDE1A_ENST00000331935.6_Missense_Mutation_p.A166D|PDE1A_ENST00000456212.1_Missense_Mutation_p.A166D|PDE1A_ENST00000536095.1_Missense_Mutation_p.A62D|PDE1A_ENST00000435564.1_Missense_Mutation_p.A166D|PDE1A_ENST00000409365.1_Missense_Mutation_p.A150D|PDE1A_ENST00000358139.2_Missense_Mutation_p.A166D|PDE1A_ENST00000482538.1_5'UTR	NM_001003683.2	NP_001003683.1	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	166					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of smooth muscle cell apoptotic process (GO:0034391)|regulation of smooth muscle cell proliferation (GO:0048660)|signal transduction (GO:0007165)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)	p.A166D(2)		endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)		Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	TTCATTTAGGGCAAATACATC	0.328																																							uc002uos.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)	3						c.(496-498)GCC>GAC		phosphodiesterase 1A isoform 2							131.0	131.0	131.0					2																	183095827		2203	4299	6502	SO:0001583	missense	5136				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr2:183095827G>T		CCDS2285.1, CCDS33344.1, CCDS58741.1, CCDS74612.1	2q32.1	2008-03-18			ENSG00000115252	ENSG00000115252	3.1.4.17	"""Phosphodiesterases"""	8774	protein-coding gene	gene with protein product		171890				8557689, 11342109	Standard	NM_005019		Approved		uc010zfq.2	P54750	OTTHUMG00000132596	ENST00000410103.1:c.497C>A	2.37:g.183095827G>T	ENSP00000387037:p.Ala166Asp					PDE1A_uc010zfp.1_Missense_Mutation_p.A62D|PDE1A_uc002uoq.1_Missense_Mutation_p.A166D|PDE1A_uc010zfq.1_Missense_Mutation_p.A166D|PDE1A_uc002uor.2_Missense_Mutation_p.A150D|PDE1A_uc002uou.2_Missense_Mutation_p.A132D	p.A166D	NM_001003683	NP_001003683	P54750	PDE1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.061)		6	581	-			166					D3DPG5|Q86VZ0|Q9C0K8|Q9C0K9|Q9C0L0|Q9C0L1|Q9C0L2|Q9C0L3|Q9C0L4|Q9UFX3	Missense_Mutation	SNP	ENST00000410103.1	37	c.497C>A	CCDS33344.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.408924	0.83340	.	.	ENSG00000115252	ENST00000435564;ENST00000346717;ENST00000536095;ENST00000409365;ENST00000331935;ENST00000351439;ENST00000410103;ENST00000358139;ENST00000456212	T;T;T;T;T;T;T;T;T	0.70749	-0.51;-0.49;-0.48;-0.5;-0.51;-0.49;-0.5;-0.5;-0.5	5.93	5.93	0.95920	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.364252	0.31624	N	0.007334	T	0.76083	0.3938	L	0.41415	1.275	0.48975	D	0.999739	B;D;B;D;B	0.56287	0.092;0.975;0.116;0.975;0.338	B;P;B;P;B	0.58928	0.052;0.848;0.091;0.804;0.187	T	0.69453	-0.5141	10	0.21540	T	0.41	.	19.3377	0.94326	0.0:0.0:1.0:0.0	.	62;132;166;150;166	B7Z3A7;P54750-3;P54750;P54750-2;P54750-4	.;.;PDE1A_HUMAN;.;.	D	166;132;62;150;166;150;166;166;166	ENSP00000410309:A166D;ENSP00000329112:A132D;ENSP00000439938:A62D;ENSP00000386767:A150D;ENSP00000331574:A166D;ENSP00000309269:A150D;ENSP00000387037:A166D;ENSP00000350858:A166D;ENSP00000408874:A166D	ENSP00000331574:A166D	A	-	2	0	PDE1A	182804072	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.661000	0.74422	2.814000	0.96858	0.591000	0.81541	GCC		0.328	PDE1A-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000334356.1			26	126	1	0	4.87955e-14	0.005443	6.8417e-14	26	126				
NDUFS1	4719	broad.mit.edu	37	2	206992595	206992595	+	Nonsense_Mutation	SNP	G	G	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr2:206992595G>A	ENST00000233190.6	-	16	2076	c.1810C>T	c.(1810-1812)Cag>Tag	p.Q604*	NDUFS1_ENST00000449699.1_Nonsense_Mutation_p.Q604*|NDUFS1_ENST00000457011.1_Nonsense_Mutation_p.Q488*|NDUFS1_ENST00000440274.1_Nonsense_Mutation_p.Q568*|NDUFS1_ENST00000455934.2_Nonsense_Mutation_p.Q618*|NDUFS1_ENST00000432169.1_Nonsense_Mutation_p.Q493*|NDUFS1_ENST00000423725.1_Nonsense_Mutation_p.Q547*	NM_005006.6	NP_004997.4	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)	604					apoptotic mitochondrial changes (GO:0008637)|ATP metabolic process (GO:0046034)|cellular metabolic process (GO:0044237)|cellular respiration (GO:0045333)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|regulation of mitochondrial membrane potential (GO:0051881)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial respiratory chain complex I (GO:0005747)	2 iron, 2 sulfur cluster binding (GO:0051537)|4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)	p.Q604*(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TTAGTCTGCTGAGCTCTACCC	0.453																																							uc002vbe.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(1810-1812)CAG>TAG		NADH dehydrogenase (ubiquinone) Fe-S protein 1,	NADH(DB00157)						99.0	96.0	97.0					2																	206992595		2203	4300	6503	SO:0001587	stop_gained	4719				apoptosis|ATP metabolic process|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding	g.chr2:206992595G>A		CCDS2366.1, CCDS56162.1, CCDS56163.1, CCDS56164.1, CCDS56165.1	2q33-q34	2011-07-04	2002-08-29		ENSG00000023228	ENSG00000023228	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7707	protein-coding gene	gene with protein product	"""complex I 75kDa subunit"", ""NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial"""	157655	"""NADH dehydrogenase (ubiquinone) Fe-S protein 1 (75kD) (NADH-coenzyme Q reductase)"""			1935949	Standard	NM_005006		Approved	CI-75k	uc010ziq.2	P28331	OTTHUMG00000132892	ENST00000233190.6:c.1810C>T	2.37:g.206992595G>A	ENSP00000233190:p.Gln604*					NDUFS1_uc010ziq.1_Nonsense_Mutation_p.Q618*|NDUFS1_uc010zir.1_Nonsense_Mutation_p.Q568*|NDUFS1_uc010zis.1_Nonsense_Mutation_p.Q547*|NDUFS1_uc010zit.1_Nonsense_Mutation_p.Q493*|NDUFS1_uc010ziu.1_Nonsense_Mutation_p.Q488*	p.Q604*	NM_005006	NP_004997	P28331	NDUS1_HUMAN			16	1937	-			604					B4DIN9|B4DJA0|B4DPG1|B4DUC1|E7ENF3|Q53TR8|Q8N1C4|Q8TCC9	Nonsense_Mutation	SNP	ENST00000233190.6	37	c.1810C>T	CCDS2366.1	.	.	.	.	.	.	.	.	.	.	G	37	6.583712	0.97684	.	.	ENSG00000023228	ENST00000233190;ENST00000423725;ENST00000457011;ENST00000440274;ENST00000455934;ENST00000449699;ENST00000432169	.	.	.	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-6.6919	19.6926	0.96008	0.0:0.0:1.0:0.0	.	.	.	.	X	604;547;488;568;618;604;493	.	ENSP00000233190:Q604X	Q	-	1	0	NDUFS1	206700840	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.810000	0.99221	2.676000	0.91093	0.555000	0.69702	CAG		0.453	NDUFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256391.4	NM_005006		43	80	0	0	0	0.01441	0	43	80				
UNC80	285175	broad.mit.edu	37	2	210642106	210642106	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr2:210642106G>T	ENST00000439458.1	+	4	503	c.423G>T	c.(421-423)tgG>tgT	p.W141C	UNC80_ENST00000478701.1_3'UTR|UNC80_ENST00000272845.6_Missense_Mutation_p.W141C	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN	unc-80 homolog (C. elegans)	141					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.W141C(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						GCTCCAGCTGGGGTGGAAGCA	0.552																																							uc010zjc.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(421-423)TGG>TGT		chromosome 2 open reading frame 21 isoform 1							61.0	64.0	63.0					2																	210642106		2203	4300	6503	SO:0001583	missense	285175					integral to membrane		g.chr2:210642106G>T	AK090815	CCDS2387.1, CCDS46504.1, CCDS2387.2	2q35	2009-08-17	2009-08-17	2009-08-17	ENSG00000144406	ENSG00000144406			26582	protein-coding gene	gene with protein product		612636	"""chromosome 2 open reading frame 21"""	C2orf21		19092807	Standard	NM_032504		Approved	FLJ33496, KIAA1843, UNC-80	uc010zjc.1	Q8N2C7	OTTHUMG00000132963	ENST00000439458.1:c.423G>T	2.37:g.210642106G>T	ENSP00000391088:p.Trp141Cys					UNC80_uc002vdj.1_Missense_Mutation_p.W141C	p.W141C	NM_032504	NP_115893	Q8N2C7	UNC80_HUMAN			4	503	+			141					B2RN50|B4DQY9|B4DZB3|C4IXS8|C9J1U3|Q96JI4|Q96SS0	Missense_Mutation	SNP	ENST00000439458.1	37	c.423G>T	CCDS46504.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.135815	0.77662	.	.	ENSG00000144406	ENST00000439458;ENST00000281753;ENST00000272845	T;T	0.31510	1.49;1.49	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.43567	0.1253	L	0.36672	1.1	0.80722	D	1	D;D	0.69078	0.979;0.997	P;P	0.57324	0.634;0.818	T	0.15867	-1.0422	10	0.66056	D	0.02	.	18.844	0.92196	0.0:0.0:1.0:0.0	.	141;141	Q8N2C7;Q8N2C7-3	UNC80_HUMAN;.	C	141	ENSP00000391088:W141C;ENSP00000272845:W141C	ENSP00000272845:W141C	W	+	3	0	UNC80	210350351	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.222000	0.78025	2.894000	0.99253	0.655000	0.94253	TGG		0.552	UNC80-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_182587		23	103	1	0	1.10513e-12	0.014323	1.49419e-12	23	103				
DIS3L2	129563	broad.mit.edu	37	2	233195486	233195486	+	Splice_Site	SNP	G	G	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr2:233195486G>T	ENST00000409307.1	+	15	2010	c.2010G>T	c.(2008-2010)caG>caT	p.Q670H	DIS3L2_ENST00000273009.6_Intron|DIS3L2_ENST00000325385.7_Splice_Site_p.Q670H					DIS3 like 3'-5' exoribonuclease 2									p.Q670H(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		GGCCCATGCAGGTAAGGAGGG	0.612																																							uc010fxz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|central_nervous_system(1)	3						c.(2008-2010)CAG>CAT		DIS3 mitotic control homolog (S.							93.0	103.0	100.0					2																	233195486		1947	4136	6083	SO:0001630	splice_region_variant	129563						exonuclease activity|ribonuclease activity|RNA binding	g.chr2:233195486G>T	BC026166	CCDS42834.1, CCDS58752.1, CCDS58753.1	2q37.1	2014-09-17	2014-03-05		ENSG00000144535	ENSG00000144535			28648	protein-coding gene	gene with protein product		614184	"""family with sequence similarity 6, member A"", ""DIS3 mitotic control homolog (S. cerevisiae)-like 2"""	FAM6A		22306653, 23503588	Standard	NM_152383		Approved	FLJ36974, MGC42174	uc010fxz.3	Q8IYB7	OTTHUMG00000153385	ENST00000409307.1:c.2010+1G>T	2.37:g.233195486G>T						DIS3L2_uc002vsm.3_RNA|DIS3L2_uc002vso.2_RNA	p.Q670H	NM_152383	NP_689596	Q8IYB7	DI3L2_HUMAN		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)	16	2286	+		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)	670						Missense_Mutation	SNP	ENST00000409307.1	37	c.2010G>T	CCDS42834.1	.	.	.	.	.	.	.	.	.	.	N	23.0	4.358203	0.82243	.	.	ENSG00000144535	ENST00000325385;ENST00000409307;ENST00000424049	T;T;T	0.36878	1.23;1.23;1.23	5.06	5.06	0.68205	Ribonuclease II/R (2);	0.000000	0.64402	D	0.000001	T	0.64249	0.2581	M	0.90145	3.09	0.80722	D	1	D	0.71674	0.998	D	0.74674	0.984	T	0.68580	-0.5371	10	0.41790	T	0.15	-27.8985	12.5596	0.56273	0.0811:0.0:0.9189:0.0	.	670	Q8IYB7	DI3L2_HUMAN	H	670;670;305	ENSP00000315569:Q670H;ENSP00000386799:Q670H;ENSP00000415419:Q305H	ENSP00000315569:Q670H	Q	+	3	2	DIS3L2	232903730	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.099000	0.57755	2.348000	0.79779	0.644000	0.83932	CAG		0.612	DIS3L2-015	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330988.1	NM_152383	Missense_Mutation	37	114	1	0	1.47244e-24	0.00623	2.30886e-24	37	114				
SLC52A3	113278	broad.mit.edu	37	20	746119	746119	+	Silent	SNP	C	C	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr20:746119C>T	ENST00000217254.7	-	2	541	c.300G>A	c.(298-300)ctG>ctA	p.L100L	SLC52A3_ENST00000381944.3_Silent_p.L100L|SLC52A3_ENST00000473664.1_5'UTR	NM_033409.3	NP_212134.3	Q9NQ40	S52A3_HUMAN	solute carrier family 52 (riboflavin transporter), member 3	100					cellular response to heat (GO:0034605)|riboflavin metabolic process (GO:0006771)|riboflavin transport (GO:0032218)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	riboflavin transporter activity (GO:0032217)	p.L100L(1)									GGTGGCCGTCCAGCACCCAGG	0.597																																							uc002wed.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(298-300)CTG>CTA		hypothetical protein LOC113278 precursor							58.0	46.0	50.0					20																	746119		2201	4298	6499	SO:0001819	synonymous_variant	113278				sensory perception of sound	integral to plasma membrane	riboflavin transporter activity	g.chr20:746119C>T	AL118502	CCDS13007.1	20p13	2013-07-17	2013-07-17	2012-02-29	ENSG00000101276	ENSG00000101276		"""Solute carriers"""	16187	protein-coding gene	gene with protein product	"""hypothetical protein LOC113278"""	613350	"""chromosome 20 open reading frame 54"""	C20orf54		11780052, 19122205	Standard	NM_033409		Approved	bA371L19.1, hRFT2, RFVT3	uc002wed.4	Q9NQ40	OTTHUMG00000031647	ENST00000217254.7:c.300G>A	20.37:g.746119C>T						C20orf54_uc002wee.2_Silent_p.L100L	p.L100L	NM_033409	NP_212134	Q9NQ40	RFT2_HUMAN			2	639	-			100			Helical; (Potential).		A8K6P1|Q5W1A0|Q5W1A1|Q8NCL7|Q96GD5	Silent	SNP	ENST00000217254.7	37	c.300G>A	CCDS13007.1																																																																																				0.597	SLC52A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077482.2	NM_033409		6	9	0	0	0	0.001168	0	6	9				
ADRA1D	146	broad.mit.edu	37	20	4228878	4228878	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr20:4228878C>T	ENST00000379453.4	-	1	843	c.727G>A	c.(727-729)Gag>Aag	p.E243K		NM_000678.3	NP_000669.1	P25100	ADA1D_HUMAN	adrenoceptor alpha 1D	243					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|DNA metabolic process (GO:0006259)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of the force of heart contraction involved in baroreceptor response to increased systemic arterial blood pressure (GO:0001986)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)	p.E243K(1)		endometrium(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	14					Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Dapiprazole(DB00298)|Desipramine(DB01151)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Oxymetazoline(DB00935)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Xylometazoline(DB06694)	CAGAAGCGCTCGTCAGGGGGC	0.677																																							uc002wkr.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(727-729)GAG>AAG		alpha-1D-adrenergic receptor	Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Methotrimeprazine(DB01403)|Norepinephrine(DB00368)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)						28.0	27.0	27.0					20																	4228878		2197	4299	6496	SO:0001583	missense	146				cell proliferation|cell-cell signaling|DNA metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|multicellular organismal development|positive regulation of cell proliferation	integral to plasma membrane	alpha1-adrenergic receptor activity	g.chr20:4228878C>T	U03864	CCDS13079.1	20p13	2012-08-08	2012-05-09		ENSG00000171873	ENSG00000171873		"""GPCR / Class A : Adrenoceptors : alpha"""	280	protein-coding gene	gene with protein product		104219	"""adrenergic, alpha-1D-, receptor"""			8039425	Standard	NM_000678		Approved	ADRA1R, ADRA1A, ADRA1	uc002wkr.2	P25100	OTTHUMG00000031779	ENST00000379453.4:c.727G>A	20.37:g.4228878C>T	ENSP00000368766:p.Glu243Lys						p.E243K	NM_000678	NP_000669	P25100	ADA1D_HUMAN			1	782	-			243			Extracellular (By similarity).		Q9NPY0	Missense_Mutation	SNP	ENST00000379453.4	37	c.727G>A	CCDS13079.1	.	.	.	.	.	.	.	.	.	.	c	28.9	4.956163	0.92726	.	.	ENSG00000171873	ENST00000379453	T	0.37235	1.21	4.25	4.25	0.50352	GPCR, rhodopsin-like superfamily (1);	0.400564	0.26975	N	0.021556	T	0.47691	0.1459	L	0.47190	1.495	0.53688	D	0.999975	P	0.51537	0.946	P	0.57371	0.819	T	0.50224	-0.8853	10	0.72032	D	0.01	.	14.2638	0.66102	0.0:1.0:0.0:0.0	.	243	P25100	ADA1D_HUMAN	K	243	ENSP00000368766:E243K	ENSP00000368766:E243K	E	-	1	0	ADRA1D	4176878	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	7.648000	0.83479	2.208000	0.71279	0.552000	0.68991	GAG		0.677	ADRA1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077812.2	NM_000678		7	6	0	0	0	0.00308	0	7	6				
NCOA6	23054	broad.mit.edu	37	20	33338167	33338167	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr20:33338167C>A	ENST00000374796.2	-	10	4401	c.1831G>T	c.(1831-1833)Ggc>Tgc	p.G611C	NCOA6_ENST00000359003.2_Missense_Mutation_p.G611C			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	611	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.G611C(1)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						TGGGGCTGGCCTTGCATGTTG	0.557																																							uc002xav.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(3)|central_nervous_system(1)	7						c.(1831-1833)GGC>TGC		nuclear receptor coactivator 6							66.0	58.0	61.0					20																	33338167		2203	4300	6503	SO:0001583	missense	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33338167C>A	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.1831G>T	20.37:g.33338167C>A	ENSP00000363929:p.Gly611Cys					NCOA6_uc002xaw.2_Missense_Mutation_p.G611C	p.G611C	NM_014071	NP_054790	Q14686	NCOA6_HUMAN			10	4402	-			611			TBP/GTF2A-binding region.|NCOA1-binding region.|Gln-rich.|CREBBP-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Missense_Mutation	SNP	ENST00000374796.2	37	c.1831G>T	CCDS13241.1	.	.	.	.	.	.	.	.	.	.	C	19.50	3.838858	0.71373	.	.	ENSG00000198646	ENST00000374796;ENST00000359003	T;T	0.38077	1.16;1.16	5.48	4.54	0.55810	.	0.000000	0.64402	D	0.000001	T	0.46619	0.1402	L	0.27053	0.805	0.58432	D	0.999999	D	0.89917	1.0	D	0.72625	0.978	T	0.50972	-0.8764	10	0.72032	D	0.01	-1.4855	14.5909	0.68365	0.0:0.93:0.0:0.07	.	611	Q14686	NCOA6_HUMAN	C	611	ENSP00000363929:G611C;ENSP00000351894:G611C	ENSP00000351894:G611C	G	-	1	0	NCOA6	32801828	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.369000	0.59511	1.546000	0.49388	0.655000	0.94253	GGC		0.557	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		11	56	1	0	5.50884e-06	0.013537	6.31966e-06	11	56				
ZNF334	55713	broad.mit.edu	37	20	45130940	45130940	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr20:45130940C>A	ENST00000347606.4	-	5	1220	c.1038G>T	c.(1036-1038)gaG>gaT	p.E346D	ZNF334_ENST00000593880.1_Missense_Mutation_p.E369D|ZNF334_ENST00000457685.2_Missense_Mutation_p.E308D	NM_018102.4	NP_060572.3	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	346					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E346D(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				CGTAAGGCTTCTCCCCTGTGT	0.428																																							uc002xsc.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1036-1038)GAG>GAT		zinc finger protein 334 isoform a							166.0	169.0	168.0					20																	45130940		2203	4300	6503	SO:0001583	missense	55713				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:45130940C>A	AK001331	CCDS33480.1, CCDS74736.1	20q13.12	2013-09-20			ENSG00000198185	ENSG00000198185		"""Zinc fingers, C2H2-type"", ""-"""	15806	protein-coding gene	gene with protein product							Standard	NM_018102		Approved	bA179N14.1	uc002xsc.4	Q9HCZ1	OTTHUMG00000032654	ENST00000347606.4:c.1038G>T	20.37:g.45130940C>A	ENSP00000255129:p.Glu346Asp					ZNF334_uc002xsa.2_Missense_Mutation_p.E369D|ZNF334_uc002xsb.2_Missense_Mutation_p.E308D|ZNF334_uc002xsd.2_Missense_Mutation_p.E308D|ZNF334_uc010ghl.2_Missense_Mutation_p.E345D	p.E346D	NM_018102	NP_060572	Q9HCZ1	ZN334_HUMAN			5	1222	-		Myeloproliferative disorder(115;0.0122)	346					Q5T6U2|Q9NVW4	Missense_Mutation	SNP	ENST00000347606.4	37	c.1038G>T	CCDS33480.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.273925	0.80580	.	.	ENSG00000198185	ENST00000457685;ENST00000347606	T;T	0.26810	1.71;1.71	3.3	3.3	0.37823	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.37679	0.1012	L	0.41961	1.31	0.37794	D	0.927463	D;D;D	0.69078	0.997;0.997;0.997	P;P;P	0.61722	0.893;0.893;0.893	T	0.40887	-0.9539	9	0.62326	D	0.03	.	12.4699	0.55781	0.0:1.0:0.0:0.0	.	308;346;369	B3KQ93;Q9HCZ1;Q8N3P8	.;ZN334_HUMAN;.	D	308;346	ENSP00000402582:E308D;ENSP00000255129:E346D	ENSP00000255129:E346D	E	-	3	2	ZNF334	44564347	0.985000	0.35326	0.978000	0.43139	0.994000	0.84299	0.812000	0.27211	1.827000	0.53221	0.591000	0.81541	GAG		0.428	ZNF334-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079575.1			64	279	1	0	1.87469e-40	0.01441	3.29002e-40	64	279				
FAM65C	140876	broad.mit.edu	37	20	49218951	49218951	+	Silent	SNP	G	G	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr20:49218951G>A	ENST00000327979.2	-	13	1716	c.1305C>T	c.(1303-1305)caC>caT	p.H435H	FAM65C_ENST00000045083.2_Silent_p.H435H|FAM65C_ENST00000535356.1_Silent_p.H439H			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	435								p.H435H(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CAATGGAGGCGTGGGGACCGA	0.652																																							uc002xvm.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1303-1305)CAC>CAT		hypothetical protein LOC140876							31.0	33.0	32.0					20																	49218951		2144	4209	6353	SO:0001819	synonymous_variant	140876							g.chr20:49218951G>A	AL133230	CCDS13431.2	20q13.13	2011-11-24	2008-06-13	2008-06-13	ENSG00000042062	ENSG00000042062			16168	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 175"", ""chromosome 20 open reading frame 176"""	C20orf175, C20orf176			Standard	XM_005260294		Approved	dJ530I15.2, dJ530I15.3	uc002xvm.3	Q96MK2	OTTHUMG00000032724	ENST00000327979.2:c.1305C>T	20.37:g.49218951G>A						FAM65C_uc010zyt.1_Silent_p.H439H|FAM65C_uc010zyu.1_RNA|FAM65C_uc002xvn.1_Silent_p.H435H	p.H435H	NM_080829	NP_543019	Q96MK2	FA65C_HUMAN			13	1623	-			435					Q5QPB6|Q9NQQ2	Silent	SNP	ENST00000327979.2	37	c.1305C>T	CCDS13431.2																																																																																				0.652	FAM65C-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257962.1			8	65	0	0	0	0.006214	0	8	65				
MORC3	23515	broad.mit.edu	37	21	37721643	37721643	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr21:37721643T>C	ENST00000400485.1	+	9	1116	c.1040T>C	c.(1039-1041)aTa>aCa	p.I347T	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	347					cell aging (GO:0007569)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of fibroblast proliferation (GO:0048147)|peptidyl-serine phosphorylation (GO:0018105)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)	PML body (GO:0016605)	zinc ion binding (GO:0008270)	p.I347T(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						GTTGGAATTATAGAGTGTAAT	0.313																																							uc002yvi.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1039-1041)ATA>ACA		MORC family CW-type zinc finger 3							88.0	84.0	85.0					21																	37721643		1823	4079	5902	SO:0001583	missense	23515				cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding	g.chr21:37721643T>C	AK025327	CCDS42924.1	21q22.13	2005-06-15	2005-06-15	2005-06-15	ENSG00000159256	ENSG00000159256			23572	protein-coding gene	gene with protein product		610078	"""zinc finger, CW-type with coiled-coil domain 3"", ""zinc finger, CW type with coiled-coil domain 3"""	ZCWCC3		14607086	Standard	NM_015358		Approved	ZCW5, NXP2, KIAA0136	uc002yvi.3	Q14149	OTTHUMG00000086620	ENST00000400485.1:c.1040T>C	21.37:g.37721643T>C	ENSP00000383333:p.Ile347Thr						p.I347T	NM_015358	NP_056173	Q14149	MORC3_HUMAN			9	1116	+			347					A8KA92|Q9UEZ2	Missense_Mutation	SNP	ENST00000400485.1	37	c.1040T>C	CCDS42924.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.442105	0.83993	.	.	ENSG00000159256	ENST00000400485	T	0.18338	2.22	5.81	5.81	0.92471	.	0.042235	0.85682	D	0.000000	T	0.38878	0.1057	M	0.69823	2.125	0.58432	D	0.999995	D	0.59767	0.986	P	0.61070	0.883	T	0.10636	-1.0621	10	0.48119	T	0.1	-28.4308	16.1501	0.81611	0.0:0.0:0.0:1.0	.	347	Q14149	MORC3_HUMAN	T	347	ENSP00000383333:I347T	ENSP00000383333:I347T	I	+	2	0	MORC3	36643513	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.572000	0.82409	2.219000	0.72066	0.533000	0.62120	ATA		0.313	MORC3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000194640.1	NM_015358		13	83	0	0	0	0.00499	0	13	83				
U2AF1	7307	broad.mit.edu	37	21	44524456	44524456	+	Missense_Mutation	SNP	G	G	A	rs371769427		TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr21:44524456G>A	ENST00000291552.4	-	2	193	c.101C>T	c.(100-102)tCt>tTt	p.S34F	U2AF1_ENST00000486519.1_5'UTR|U2AF1_ENST00000459639.1_5'UTR|U2AF1_ENST00000398137.1_5'UTR|U2AF1_ENST00000380276.2_Missense_Mutation_p.S34F	NM_006758.2	NP_006749.1	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1	34					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S34F(45)|p.S34Y(12)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						GTGCAACCGAGAGCACCTGTC	0.358			Mis		"""CLL, MDS"""																																		uc002zda.1		NA		Dom	yes		21	21q22.3	7307		U2 small nuclear RNA auxiliary factor 1			L					57	Substitution - Missense(57)		haematopoietic_and_lymphoid_tissue(43)|lung(12)|endometrium(2)		0						c.(100-102)TCT>TTT		U2 small nuclear RNA auxillary factor 1 isoform		G	PHE/SER,PHE/SER,	1,4405		0,1,2202	67.0	64.0	65.0		101,101,	5.5	1.0	21		65	0,8600		0,0,4300	no	missense,missense,utr-5	U2AF1	NM_001025203.1,NM_006758.2,NM_001025204.1	155,155,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,	34/241,34/241,	44524456	1,13005	2203	4300	6503	SO:0001583	missense	7307				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	Cajal body|catalytic step 2 spliceosome|nuclear speck	nucleotide binding|RNA binding|zinc ion binding	g.chr21:44524456G>A	BC001177	CCDS13694.1, CCDS33574.1, CCDS42948.1	21q22.3	2014-09-17	2006-04-11		ENSG00000160201	ENSG00000160201		"""RNA binding motif (RRM) containing"""	12453	protein-coding gene	gene with protein product		191317	"""U2(RNU2) small nuclear RNA auxiliary factor binding protein"", ""U2(RNU2) small nuclear RNA auxiliary factor 1"""	U2AFBP		8660980, 7956352	Standard	NM_006758		Approved	U2AF35, RNU2AF1, RN	uc002zdb.1	Q01081	OTTHUMG00000086836	ENST00000291552.4:c.101C>T	21.37:g.44524456G>A	ENSP00000291552:p.Ser34Phe					U2AF1_uc002zcy.1_5'UTR|U2AF1_uc002zcz.1_5'UTR|U2AF1_uc002zdb.1_Missense_Mutation_p.S34F|U2AF1_uc010gpi.1_Missense_Mutation_p.S34F|U2AF1_uc002zdc.1_Missense_Mutation_p.S34F	p.S34F	NM_001025203	NP_001020374	Q01081	U2AF1_HUMAN			2	185	-			34			C3H1-type 1.		Q701P4|Q71RF1	Missense_Mutation	SNP	ENST00000291552.4	37	c.101C>T	CCDS13694.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.025187	0.93518	2.27E-4	0.0	ENSG00000160201	ENST00000380276;ENST00000291552	T;T	0.46063	0.88;0.88	5.47	5.47	0.80525	Zinc finger, CCCH-type (3);	0.000000	0.85682	D	0.000000	T	0.77239	0.4101	H	0.96430	3.82	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.997;0.997	D	0.84864	0.0821	10	0.87932	D	0	-15.7954	19.3169	0.94218	0.0:0.0:1.0:0.0	.	34;34;34	Q69YM7;Q01081;Q701P4	.;U2AF1_HUMAN;.	F	34	ENSP00000369629:S34F;ENSP00000291552:S34F	ENSP00000291552:S34F	S	-	2	0	U2AF1	43397525	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.864000	0.92294	2.560000	0.86352	0.563000	0.77884	TCT		0.358	U2AF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000195541.1	NM_006758		26	65	0	0	0	0.005443	0	26	65				
POTEH	23784	broad.mit.edu	37	22	16287281	16287281	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr22:16287281T>A	ENST00000343518.6	-	1	656	c.605A>T	c.(604-606)gAc>gTc	p.D202V		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	202								p.D202V(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						CTTGTTCATGTCAGTGTCCTT	0.567																																							uc010gqp.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(604-606)GAC>GTC		ANKRD26-like family C, member 3							20.0	22.0	22.0					22																	16287281		1933	3671	5604	SO:0001583	missense	23784							g.chr22:16287281T>A	AY462874	CCDS74808.1	22q11.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000198062	ENSG00000198062		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	133	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 7"""	608913	"""actin, beta-like 1"", ""ANKRD26-like family C, member 3"""	ACTBL1, A26C3		10591208, 15276201, 21439273	Standard	NM_001136213		Approved	POTE22, CT104.7	uc010gqp.2	Q6S545	OTTHUMG00000140314	ENST00000343518.6:c.605A>T	22.37:g.16287281T>A	ENSP00000340610:p.Asp202Val					POTEH_uc002zlg.1_RNA|POTEH_uc002zlh.1_5'UTR|POTEH_uc002zlj.1_Missense_Mutation_p.D37V	p.D202V	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN			1	657	-			202			ANK 1.		A2CEK4|A6NCI1|A9Z1W0	Missense_Mutation	SNP	ENST00000343518.6	37	c.605A>T	CCDS46658.1	.	.	.	.	.	.	.	.	.	.	.	9.623	1.134418	0.21123	.	.	ENSG00000198062	ENST00000359587;ENST00000343518;ENST00000355872	T	0.59364	0.27	1.38	-2.77	0.05877	Ankyrin repeat-containing domain (4);	.	.	.	.	T	0.58906	0.2155	L	0.59967	1.855	0.20563	N	0.999887	P	0.42908	0.793	P	0.51895	0.683	T	0.56202	-0.8018	9	0.87932	D	0	.	5.715	0.17954	0.0:0.5516:0.0:0.4484	.	202	Q6S545	POTEH_HUMAN	V	165;202;202	ENSP00000340610:D202V	ENSP00000340610:D202V	D	-	2	0	POTEH	14667281	0.000000	0.05858	0.000000	0.03702	0.149000	0.21700	-0.011000	0.12721	-0.877000	0.04012	0.128000	0.15822	GAC		0.567	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276918.4	NM_001136213		20	112	0	0	0	0.016522	0	20	112				
BCR	613	broad.mit.edu	37	22	23630285	23630285	+	Splice_Site	SNP	G	G	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr22:23630285G>T	ENST00000305877.8	+	12	3279	c.2528G>T	c.(2527-2529)aGt>aTt	p.S843I	BCR_ENST00000359540.3_Splice_Site_p.S843I	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	843	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of phagocytosis (GO:0050766)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.S843I(1)	BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35					Bosutinib(DB06616)|Ponatinib(DB08901)	CCACCCTAGAGTTACACGTTC	0.557			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""																																		uc002zww.2		NA		Dom	yes		22	22q11.21	613	T	breakpoint cluster region			L	ABL1| FGFR1|JAK2 		CML|ALL|AML	BCR/JAK2(6)	1	Substitution - Missense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(6)|central_nervous_system(3)|urinary_tract(1)|lung(1)|skin(1)	12						c.(2527-2529)AGT>ATT		breakpoint cluster region isoform 1							236.0	173.0	194.0					22																	23630285		2203	4300	6503	SO:0001630	splice_region_variant	613				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr22:23630285G>T		CCDS13806.1, CCDS13807.1	22q11	2013-01-10			ENSG00000186716	ENSG00000186716		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	1014	protein-coding gene	gene with protein product		151410		D22S11, BCR1		1657398, 18070886	Standard	NM_004327		Approved	D22S662, CML, PHL, ALL	uc002zww.3	P11274	OTTHUMG00000150655	ENST00000305877.8:c.2527-1G>T	22.37:g.23630285G>T						BCR_uc002zwx.2_Missense_Mutation_p.S843I|BCR_uc011aiy.1_Missense_Mutation_p.S432I|BCR_uc002zwy.1_Missense_Mutation_p.S129I	p.S843I	NM_004327	NP_004318	P11274	BCR_HUMAN			12	3124	+			843			PH.		P78501|Q12842|Q4LE80|Q6NZI3	Missense_Mutation	SNP	ENST00000305877.8	37	c.2528G>T	CCDS13806.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.9|20.9	4.067854|4.067854	0.76301|0.76301	.|.	.|.	ENSG00000186716|ENSG00000186716	ENST00000305877;ENST00000359540;ENST00000334149|ENST00000292697	T;T|.	0.79033|.	-1.23;-1.23|.	4.67|4.67	4.67|4.67	0.58626|0.58626	Pleckstrin homology-type (1);Pleckstrin homology domain (3);|.	0.085943|.	0.85682|.	D|.	0.000000|.	T|T	0.74801|0.74801	0.3764|0.3764	M|M	0.65975|0.65975	2.015|2.015	0.80722|0.80722	D|D	1|1	P;P;P;D|.	0.53151|.	0.859;0.919;0.948;0.958|.	P;P;P;P|.	0.55749|.	0.71;0.783;0.578;0.783|.	T|T	0.78272|0.78272	-0.2268|-0.2268	10|6	0.87932|0.87932	D|D	0|0	.|.	17.4344|17.4344	0.87547|0.87547	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	432;461;843;843|.	B4E065;Q12844;P11274-2;P11274|.	.;.;.;BCR_HUMAN|.	I|F	843;843;508|455	ENSP00000303507:S843I;ENSP00000352535:S843I|.	ENSP00000303507:S843I|ENSP00000292697:V455F	S|V	+|+	2|1	0|0	BCR|BCR	21960285|21960285	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.671000|0.671000	0.39405|0.39405	7.429000|7.429000	0.80309|0.80309	2.541000|2.541000	0.85698|0.85698	0.561000|0.561000	0.74099|0.74099	AGT|GTT		0.557	BCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075819.1	NM_004327	Missense_Mutation	20	65	1	0	5.26018e-13	0.012319	7.22252e-13	20	65				
GGT5	2687	broad.mit.edu	37	22	24621594	24621594	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr22:24621594C>A	ENST00000327365.4	-	9	1672	c.1256G>T	c.(1255-1257)cGg>cTg	p.R419L	GGT5_ENST00000263112.7_Missense_Mutation_p.R387L|GGT5_ENST00000418439.2_Missense_Mutation_p.R342L|GGT5_ENST00000398292.3_Missense_Mutation_p.R419L	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5	419					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|inflammatory response (GO:0006954)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)	p.R419L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						GATGCCTGTCCGTGGTGAATA	0.617																																							uc002zzo.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1255-1257)CGG>CTG		gamma-glutamyltransferase 5 isoform b							72.0	57.0	62.0					22																	24621594		2203	4300	6503	SO:0001583	missense	2687				glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity	g.chr22:24621594C>A	M64099	CCDS13825.1, CCDS42989.1, CCDS42990.1	22q11.23	2008-03-25	2008-03-10	2008-03-10	ENSG00000099998	ENSG00000099998		"""Gamma-glutamyltransferases"""	4260	protein-coding gene	gene with protein product		137168	"""gamma-glutamyltransferase-like activity 1"""	GGTLA1		1676842, 8095916, 18357469	Standard	NM_004121		Approved	GGT-REL	uc002zzp.4	P36269	OTTHUMG00000150796	ENST00000327365.4:c.1256G>T	22.37:g.24621594C>A	ENSP00000330080:p.Arg419Leu					GGT5_uc002zzp.3_Missense_Mutation_p.R419L|GGT5_uc002zzr.3_Missense_Mutation_p.R387L|GGT5_uc002zzq.3_Missense_Mutation_p.R387L|GGT5_uc011ajm.1_Missense_Mutation_p.R342L	p.R419L	NM_004121	NP_004112	P36269	GGT5_HUMAN			9	1673	-			419			Extracellular (Potential).		Q53XM9|Q6GMP0|Q96FC1|Q9UFM5	Missense_Mutation	SNP	ENST00000327365.4	37	c.1256G>T	CCDS13825.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.39|14.39	2.521925|2.521925	0.44866|0.44866	.|.	.|.	ENSG00000099998|ENSG00000099998	ENST00000425408|ENST00000327365;ENST00000263112;ENST00000438024;ENST00000398292;ENST00000418439	.|T;T;T;T	.|0.22945	.|1.93;1.93;1.93;1.93	4.5|4.5	-3.09|-3.09	0.05331|0.05331	.|.	.|0.315046	.|0.33515	.|N	.|0.004828	.|T	.|0.38558	.|0.1045	M|M	0.80746|0.80746	2.51|2.51	0.09310|0.09310	N|N	1|1	.|D;P;P;P;P	.|0.55800	.|0.973;0.757;0.796;0.81;0.796	.|P;B;P;B;P	.|0.58013	.|0.831;0.325;0.73;0.439;0.73	.|T	.|0.30001	.|-0.9993	.|10	.|0.33940	.|T	.|0.23	-16.7395|-16.7395	9.431|9.431	0.38610|0.38610	0.0:0.4432:0.0:0.5568|0.0:0.4432:0.0:0.5568	.|.	.|342;387;419;419;419	.|E7EUG3;P36269-2;Q53XM9;Q6GMP0;P36269	.|.;.;.;.;GGT5_HUMAN	X|L	22|419;387;334;419;342	.|ENSP00000330080:R419L;ENSP00000263112:R387L;ENSP00000381340:R419L;ENSP00000392146:R342L	.|ENSP00000263112:R387L	G|R	-|-	1|2	0|0	GGT5|GGT5	22951594|22951594	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.490000|0.490000	0.33462|0.33462	0.073000|0.073000	0.14640|0.14640	-0.372000|-0.372000	0.07992|0.07992	-0.300000|-0.300000	0.09419|0.09419	GGA|CGG		0.617	GGT5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320119.1	NM_004121		6	25	1	0	8.12818e-05	0.001984	8.97487e-05	6	25				
SLC5A1	6523	broad.mit.edu	37	22	32439311	32439311	+	Silent	SNP	C	C	A	rs33915717	byFrequency	TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr22:32439311C>A	ENST00000266088.4	+	1	293	c.43C>A	c.(43-45)Cgg>Agg	p.R15R		NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	15					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|intestinal absorption (GO:0050892)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glucose:sodium symporter activity (GO:0005412)	p.R15R(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37					Canagliflozin(DB08907)	CGCGGTCACCCGGCCTGTTGA	0.602																																							uc003amc.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(43-45)CGG>AGG		solute carrier family 5 (sodium/glucose							125.0	94.0	105.0					22																	32439311		2203	4300	6503	SO:0001819	synonymous_variant	6523				carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding	g.chr22:32439311C>A		CCDS13902.1, CCDS58805.1	22q12.3	2013-05-22			ENSG00000100170	ENSG00000100170		"""Solute carriers"""	11036	protein-coding gene	gene with protein product	"""sodium/glucose cotransporter 1"""	182380		SGLT1		8195156	Standard	NM_000343		Approved	D22S675, NAGT	uc003amc.3	P13866	OTTHUMG00000030768	ENST00000266088.4:c.43C>A	22.37:g.32439311C>A							p.R15R	NM_000343	NP_000334	P13866	SC5A1_HUMAN			1	275	+			15			Extracellular (Potential).		B2R7E2|B7Z4Q9|B7ZA69	Silent	SNP	ENST00000266088.4	37	c.43C>A	CCDS13902.1																																																																																				0.602	SLC5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075656.3	NM_000343		8	27	1	0	3.09899e-07	0.004482	3.69924e-07	8	27				
BRD1	23774	broad.mit.edu	37	22	50192227	50192227	+	Silent	SNP	C	C	G	rs149829026	byFrequency	TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr22:50192227C>G	ENST00000216267.8	-	4	2250	c.1764G>C	c.(1762-1764)gcG>gcC	p.A588A	BRD1_ENST00000542442.1_Silent_p.A281A|BRD1_ENST00000404760.1_Silent_p.A588A|BRD1_ENST00000404034.1_Silent_p.A588A|BRD1_ENST00000457780.2_Silent_p.A588A|BRD1_ENST00000342989.5_Silent_p.A183A	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	588	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				histone H3 acetylation (GO:0043966)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleus (GO:0005634)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)	p.A588A(1)|p.A183A(1)		endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TCACGGGCTGCGCAAATATCC	0.627																																							uc003biv.2		NA																	2	Substitution - coding silent(2)		lung(2)	pancreas(1)	1						c.(1762-1764)GCG>GCC		bromodomain containing protein 1							85.0	73.0	77.0					22																	50192227		2203	4300	6503	SO:0001819	synonymous_variant	23774				histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding	g.chr22:50192227C>G	AF005067	CCDS14080.1	22q13.33	2008-07-01	2002-01-14		ENSG00000100425	ENSG00000100425			1102	protein-coding gene	gene with protein product	"""BR140-like"""	604589	"""bromodomain-containing 1"""			10591208, 10602503	Standard	NM_014577		Approved	BRL, BRPF2	uc003biv.3	O95696	OTTHUMG00000150288	ENST00000216267.8:c.1764G>C	22.37:g.50192227C>G						BRD1_uc011arf.1_Silent_p.A183A|BRD1_uc011arg.1_Silent_p.A642A|BRD1_uc011arh.1_Silent_p.A588A|BRD1_uc003biu.3_Silent_p.A588A	p.A588A	NM_014577	NP_055392	O95696	BRD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)	4	2251	-		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)	588			Bromo.		A6ZJA4	Silent	SNP	ENST00000216267.8	37	c.1764G>C	CCDS14080.1																																																																																				0.627	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317402.1	NM_014577		5	45	0	0	0	0.014758	0	5	45				
FGD5	152273	broad.mit.edu	37	3	14964604	14964604	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr3:14964604G>A	ENST00000285046.5	+	16	3969	c.3859G>A	c.(3859-3861)Gac>Aac	p.D1287N	FGD5_ENST00000476851.1_3'UTR|FGD5-AS1_ENST00000430166.1_RNA|FGD5_ENST00000543601.1_Missense_Mutation_p.D1046N	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	1287					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)	p.D1287N(1)|p.D1046N(1)		NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						GTACCTGAAGGACAGGATGGC	0.612																																							uc003bzc.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|kidney(1)|pancreas(1)	5						c.(3859-3861)GAC>AAC		FYVE, RhoGEF and PH domain containing 5							65.0	69.0	68.0					3																	14964604		1999	4171	6170	SO:0001583	missense	152273				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr3:14964604G>A	AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.3859G>A	3.37:g.14964604G>A	ENSP00000285046:p.Asp1287Asn					FGD5_uc011avk.1_Missense_Mutation_p.D1287N|FGD5_uc003bzd.2_Missense_Mutation_p.D365N	p.D1287N	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN			16	3969	+			1287			FYVE-type.		B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Missense_Mutation	SNP	ENST00000285046.5	37	c.3859G>A	CCDS46767.1	.	.	.	.	.	.	.	.	.	.	G	16.04	3.011320	0.54361	.	.	ENSG00000154783	ENST00000285046;ENST00000543601	T;T	0.13089	2.62;2.62	4.79	3.9	0.45041	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE-type (2);Zinc finger, FYVE-related (1);	0.104534	0.41396	N	0.000881	T	0.07234	0.0183	N	0.05050	-0.12	0.58432	D	0.999991	B;B	0.31485	0.325;0.325	B;B	0.35240	0.198;0.198	T	0.38067	-0.9678	10	0.15066	T	0.55	-36.2319	11.9974	0.53212	0.0855:0.0:0.9145:0.0	.	1046;1287	B7ZM68;Q6ZNL6	.;FGD5_HUMAN	N	1287;1046	ENSP00000285046:D1287N;ENSP00000445949:D1046N	ENSP00000285046:D1287N	D	+	1	0	FGD5	14939608	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.150000	0.58098	0.978000	0.38470	0.484000	0.47621	GAC		0.612	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1	NM_152536		8	52	0	0	0	0.013537	0	8	52				
ZNF385D	79750	broad.mit.edu	37	3	21478677	21478677	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr3:21478677G>T	ENST00000281523.2	-	5	976	c.458C>A	c.(457-459)cCa>cAa	p.P153Q	ZNF385D_ENST00000494118.1_5'UTR	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	153	Thr-rich.					nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.P153Q(1)		NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						TGATATTGCTGGTGTCCCTGC	0.418																																							uc003cce.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(2)|skin(2)|ovary(1)	5						c.(457-459)CCA>CAA		zinc finger protein 385D							118.0	111.0	113.0					3																	21478677		2203	4300	6503	SO:0001583	missense	79750					nucleus	nucleic acid binding|zinc ion binding	g.chr3:21478677G>T	BC007212	CCDS2636.1	3p24.3	2012-10-05	2007-12-06	2007-12-06	ENSG00000151789	ENSG00000151789			26191	protein-coding gene	gene with protein product			"""zinc finger protein 659"""	ZNF659		12477932	Standard	NM_024697		Approved	FLJ22419	uc003cce.3	Q9H6B1	OTTHUMG00000130484	ENST00000281523.2:c.458C>A	3.37:g.21478677G>T	ENSP00000281523:p.Pro153Gln					ZNF385D_uc010hfb.1_RNA	p.P153Q	NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN			5	866	-			153			Thr-rich.			Missense_Mutation	SNP	ENST00000281523.2	37	c.458C>A	CCDS2636.1	.	.	.	.	.	.	.	.	.	.	G	14.40	2.522946	0.44866	.	.	ENSG00000151789	ENST00000281523	T	0.32988	1.43	6.09	4.24	0.50183	.	0.423412	0.25813	N	0.028129	T	0.16685	0.0401	N	0.08118	0	0.34877	D	0.744184	B	0.02656	0.0	B	0.04013	0.001	T	0.11446	-1.0587	10	0.46703	T	0.11	-18.0505	11.5971	0.50979	0.065:0.0:0.8113:0.1237	.	153	Q9H6B1	Z385D_HUMAN	Q	153	ENSP00000281523:P153Q	ENSP00000281523:P153Q	P	-	2	0	ZNF385D	21453681	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.082000	0.64450	1.522000	0.49001	0.655000	0.94253	CCA		0.418	ZNF385D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252884.1	NM_024697		13	123	1	0	0.000151284	0.001855	0.000164981	13	123				
SCN10A	6336	broad.mit.edu	37	3	38798230	38798230	+	Missense_Mutation	SNP	C	C	A	rs201174558		TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr3:38798230C>A	ENST00000449082.2	-	9	1224	c.1225G>T	c.(1225-1227)Gat>Tat	p.D409Y		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	409					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.D409Y(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	TCAATTTCATCAGTGGTTGCC	0.493																																							uc003ciq.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10						c.(1225-1227)GAT>TAT		sodium channel, voltage-gated, type X, alpha	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						160.0	151.0	154.0					3																	38798230		2203	4300	6503	SO:0001583	missense	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38798230C>A	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.1225G>T	3.37:g.38798230C>A	ENSP00000390600:p.Asp409Tyr						p.D409Y	NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	9	1225	-			409					A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	c.1225G>T	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	C	15.61	2.885377	0.51908	.	.	ENSG00000185313	ENST00000449082	D	0.95980	-3.87	5.21	4.32	0.51571	.	0.158700	0.53938	D	0.000042	D	0.92071	0.7487	L	0.27053	0.805	0.22701	N	0.998835	P	0.50943	0.94	B	0.44085	0.44	D	0.87056	0.2150	10	0.87932	D	0	.	14.5472	0.68041	0.0:0.7219:0.2781:0.0	.	409	Q9Y5Y9	SCNAA_HUMAN	Y	409	ENSP00000390600:D409Y	ENSP00000390600:D409Y	D	-	1	0	SCN10A	38773234	0.616000	0.27035	0.915000	0.36163	0.957000	0.61999	2.366000	0.44204	1.528000	0.49103	0.561000	0.74099	GAT		0.493	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		35	144	1	0	2.09667e-21	0.003755	3.15691e-21	35	144				
SCN10A	6336	broad.mit.edu	37	3	38835490	38835490	+	Silent	SNP	G	G	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr3:38835490G>A	ENST00000449082.2	-	1	11	c.12C>T	c.(10-12)ccC>ccT	p.P4P		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	4					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.P4P(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	GGGATCCAATGGGGAATTCCA	0.473																																							uc003ciq.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10						c.(10-12)CCC>CCT		sodium channel, voltage-gated, type X, alpha	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						145.0	148.0	147.0					3																	38835490		2203	4300	6503	SO:0001819	synonymous_variant	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38835490G>A	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.12C>T	3.37:g.38835490G>A							p.P4P	NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	1	12	-			4					A6NDQ1	Silent	SNP	ENST00000449082.2	37	c.12C>T	CCDS33736.1																																																																																				0.473	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		35	166	0	0	0	0.005524	0	35	166				
COL7A1	1294	broad.mit.edu	37	3	48614316	48614316	+	Splice_Site	SNP	C	C	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr3:48614316C>T	ENST00000328333.8	-	66	5712		c.e66+1		MIR711_ENST00000390201.1_RNA|COL7A1_ENST00000454817.1_Splice_Site	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1						cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.?(1)		NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCAATACTCACTTCTCTCCCA	0.557																																							uc003ctz.2		NA																	1	Unknown(1)		lung(1)	ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11						c.e66+1		alpha 1 type VII collagen precursor							84.0	91.0	88.0					3																	48614316		2203	4300	6503	SO:0001630	splice_region_variant	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48614316C>T	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.5604+1G>A	3.37:g.48614316C>T							p.E1868_splice	NM_000094	NP_000085	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	66	5605	-								Q14054|Q16507	Splice_Site	SNP	ENST00000328333.8	37	c.5604_splice	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.541000	0.85917	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3164	0.90223	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL7A1	48589320	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	6.443000	0.73447	2.675000	0.91044	0.655000	0.94253	.		0.557	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094	Intron	19	74	0	0	0	0.008871	0	19	74				
CELSR3	1951	broad.mit.edu	37	3	48689456	48689456	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr3:48689456G>A	ENST00000164024.4	-	12	6057	c.5777C>T	c.(5776-5778)tCt>tTt	p.S1926F	CELSR3_ENST00000544264.1_Missense_Mutation_p.S1926F	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1926	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.S1926F(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CGGGGAGCCAGAGGGTGTGGA	0.657																																							uc003cul.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11						c.(5776-5778)TCT>TTT		cadherin EGF LAG seven-pass G-type receptor 3							14.0	16.0	15.0					3																	48689456		2193	4290	6483	SO:0001583	missense	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48689456G>A	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.5777C>T	3.37:g.48689456G>A	ENSP00000164024:p.Ser1926Phe					CELSR3_uc003cuf.1_Missense_Mutation_p.S1996F|CELSR3_uc010hkg.2_5'UTR	p.S1926F	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	12	6058	-			1926			Extracellular (Potential).|Laminin G-like 2.		O75092	Missense_Mutation	SNP	ENST00000164024.4	37	c.5777C>T	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	G	11.95	1.792397	0.31685	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.78595	-1.19;-1.19	5.72	2.83	0.33086	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	.	.	.	.	T	0.69033	0.3066	L	0.54323	1.7	0.20764	N	0.99986	B;B	0.06786	0.001;0.001	B;B	0.06405	0.001;0.002	T	0.57159	-0.7859	9	0.39692	T	0.17	.	4.8618	0.13588	0.2717:0.1534:0.5749:0.0	.	1926;1996	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	F	1926	ENSP00000164024:S1926F;ENSP00000445694:S1926F	ENSP00000164024:S1926F	S	-	2	0	CELSR3	48664460	0.406000	0.25344	0.316000	0.25252	0.946000	0.59487	1.093000	0.30939	0.279000	0.22186	0.655000	0.94253	TCT		0.657	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		6	15	0	0	0	0.00308	0	6	15				
POU1F1	5449	broad.mit.edu	37	3	87311358	87311358	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr3:87311358G>T	ENST00000350375.2	-	4	591	c.467C>A	c.(466-468)gCc>gAc	p.A156D	POU1F1_ENST00000560656.1_Intron|POU1F1_ENST00000344265.3_Missense_Mutation_p.A182D	NM_000306.2	NP_000297.1	P28069	PIT1_HUMAN	POU class 1 homeobox 1	156	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				B cell differentiation (GO:0030183)|cell fate specification (GO:0001708)|determination of adult lifespan (GO:0008340)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear transport (GO:0051169)|positive regulation of cell proliferation (GO:0008284)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin-like growth factor receptor signaling pathway (GO:0043567)|somatotropin secreting cell development (GO:0060133)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.A156D(1)|p.A182D(1)		central_nervous_system(1)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(2)	18	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00229)|Lung(72;0.00677)		AGCTGCCAGGGCCTCCCCAAC	0.423																																							uc003dqq.1		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)|skin(1)	2						c.(466-468)GCC>GAC		pituitary specific transcription factor 1							96.0	96.0	96.0					3																	87311358		2203	4300	6503	SO:0001583	missense	5449				negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:87311358G>T	D10216	CCDS2919.1, CCDS46873.1	3p11.2	2011-06-20	2007-07-13		ENSG00000064835	ENSG00000064835		"""Homeoboxes / POU class"""	9210	protein-coding gene	gene with protein product	"""growth hormone factor 1"""	173110	"""POU domain class 1, transcription factor 1"""	PIT1		1956794	Standard	NM_001122757		Approved	GHF-1, POU1F1a	uc010hoj.1	P28069	OTTHUMG00000158992	ENST00000350375.2:c.467C>A	3.37:g.87311358G>T	ENSP00000263781:p.Ala156Asp					POU1F1_uc010hoj.1_Missense_Mutation_p.A182D	p.A156D	NM_000306	NP_000297	P28069	PIT1_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00229)|Lung(72;0.00677)	4	592	-	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)	156			POU-specific.		O75757|Q15132|Q15133|Q9UD34|Q9UEL3	Missense_Mutation	SNP	ENST00000350375.2	37	c.467C>A	CCDS2919.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.293428	0.80914	.	.	ENSG00000064835	ENST00000350375;ENST00000344265	D;D	0.96136	-3.92;-3.92	6.02	6.02	0.97574	POU-specific (3);Lambda repressor-like, DNA-binding (2);POU (1);	0.000000	0.85682	D	0.000000	D	0.98226	0.9413	M	0.88105	2.93	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98415	1.0574	10	0.87932	D	0	.	20.5373	0.99239	0.0:0.0:1.0:0.0	.	182;156	P28069-2;P28069	.;PIT1_HUMAN	D	156;182	ENSP00000263781:A156D;ENSP00000342931:A182D	ENSP00000342931:A182D	A	-	2	0	POU1F1	87394048	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	9.476000	0.97823	2.857000	0.98124	0.650000	0.86243	GCC		0.423	POU1F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352827.1	NM_000306		15	118	1	0	1.99824e-07	0.00499	2.41796e-07	15	118				
RABL3	285282	broad.mit.edu	37	3	120417347	120417347	+	Missense_Mutation	SNP	G	G	C	rs371895451		TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr3:120417347G>C	ENST00000273375.3	-	5	486	c.457C>G	c.(457-459)Cat>Gat	p.H153D	RABL3_ENST00000491398.1_5'UTR|RABL3_ENST00000483733.1_Missense_Mutation_p.H153D	NM_173825.3	NP_776186.2	Q5HYI8	RABL3_HUMAN	RAB, member of RAS oncogene family-like 3	153	Small GTPase-like.				small GTPase mediated signal transduction (GO:0007264)		GTP binding (GO:0005525)	p.H153D(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)	17				GBM - Glioblastoma multiforme(114;0.151)		TTTGTTTCATGAATCTGGTCC	0.363																																							uc003edx.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(457-459)CAT>GAT		RAB, member of RAS oncogene family-like 3							209.0	223.0	218.0					3																	120417347		2203	4296	6499	SO:0001583	missense	285282				small GTPase mediated signal transduction		GTP binding	g.chr3:120417347G>C	BC020832	CCDS3001.1	3q13.33	2008-02-05			ENSG00000144840	ENSG00000144840			18072	protein-coding gene	gene with protein product						12477932	Standard	NM_173825		Approved	MGC23920	uc003edx.3	Q5HYI8	OTTHUMG00000159668	ENST00000273375.3:c.457C>G	3.37:g.120417347G>C	ENSP00000273375:p.His153Asp						p.H153D	NM_173825	NP_776186	Q5HYI8	RABL3_HUMAN		GBM - Glioblastoma multiforme(114;0.151)	5	487	-			153			Small GTPase-like.		Q8WUD3	Missense_Mutation	SNP	ENST00000273375.3	37	c.457C>G	CCDS3001.1	.	.	.	.	.	.	.	.	.	.	G	9.597	1.127786	0.20959	.	.	ENSG00000144840	ENST00000273375;ENST00000483733	T;T	0.71698	-0.59;-0.59	5.73	5.73	0.89815	.	0.099558	0.64402	D	0.000002	T	0.44993	0.1320	N	0.01705	-0.755	0.37452	D	0.91486	B	0.15719	0.014	B	0.23150	0.044	T	0.51818	-0.8657	10	0.02654	T	1	-10.4556	18.9037	0.92453	0.0:0.0:1.0:0.0	.	153	Q5HYI8	RABL3_HUMAN	D	153	ENSP00000273375:H153D;ENSP00000419986:H153D	ENSP00000273375:H153D	H	-	1	0	RABL3	121900037	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.197000	0.72100	2.699000	0.92147	0.650000	0.86243	CAT		0.363	RABL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356776.1	NM_173825		70	344	0	0	0	0.01441	0	70	344				
STXBP5L	9515	broad.mit.edu	37	3	120876387	120876387	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr3:120876387C>G	ENST00000273666.6	+	9	1061	c.790C>G	c.(790-792)Cag>Gag	p.Q264E	STXBP5L_ENST00000497029.1_Missense_Mutation_p.Q264E|STXBP5L_ENST00000492541.1_Missense_Mutation_p.Q264E|STXBP5L_ENST00000471454.1_Missense_Mutation_p.Q264E|STXBP5L_ENST00000472879.1_Missense_Mutation_p.Q264E	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	264					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.Q264E(1)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		TGAGGGCAAACAGTTCATGTG	0.378																																							uc003eec.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(7)|skin(2)	9						c.(790-792)CAG>GAG		syntaxin binding protein 5-like							114.0	101.0	105.0					3																	120876387		1862	4107	5969	SO:0001583	missense	9515				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		g.chr3:120876387C>G	AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"""WD repeat domain containing"""	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.790C>G	3.37:g.120876387C>G	ENSP00000273666:p.Gln264Glu					STXBP5L_uc011bji.1_Missense_Mutation_p.Q264E	p.Q264E	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN		GBM - Glioblastoma multiforme(114;0.0694)	9	930	+			264			WD 5.		Q4G1B4|Q6PIC3	Missense_Mutation	SNP	ENST00000273666.6	37	c.790C>G	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.380267	0.82682	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000471262	T;T;T;T;T;T	0.54675	0.56;1.6;0.56;0.56;1.6;1.6	5.45	5.45	0.79879	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.114793	0.64402	D	0.000010	T	0.74374	0.3708	M	0.82923	2.615	0.58432	D	0.999999	D;D	0.59357	0.985;0.985	D;D	0.73708	0.981;0.981	T	0.71477	-0.4581	10	0.27785	T	0.31	-19.6001	18.4677	0.90761	0.0:1.0:0.0:0.0	.	264;264	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	E	264	ENSP00000273666:Q264E;ENSP00000420019:Q264E;ENSP00000419627:Q264E;ENSP00000420287:Q264E;ENSP00000420666:Q264E;ENSP00000420167:Q264E	ENSP00000273666:Q264E	Q	+	1	0	STXBP5L	122359077	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.404000	0.66344	2.729000	0.93468	0.558000	0.71614	CAG		0.378	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3			24	71	0	0	0	0.016522	0	24	71				
HCLS1	3059	broad.mit.edu	37	3	121355331	121355331	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr3:121355331C>T	ENST00000314583.3	-	8	662	c.571G>A	c.(571-573)Gcc>Acc	p.A191T	HCLS1_ENST00000473883.1_5'UTR|HCLS1_ENST00000428394.2_Missense_Mutation_p.A154T	NM_005335.4	NP_005326	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	191					actin filament polymerization (GO:0030041)|cellular response to cytokine stimulus (GO:0071345)|erythrocyte differentiation (GO:0030218)|intracellular signal transduction (GO:0035556)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell proliferation (GO:0008284)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|regulation of actin filament polymerization (GO:0030833)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	protein kinase binding (GO:0019901)|RNA polymerase II transcription factor binding (GO:0001085)	p.A191T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		AAGCCCTTGGCATAATCTGCA	0.448																																							uc003eeh.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(571-573)GCC>ACC		hematopoietic cell-specific Lyn substrate 1							104.0	95.0	98.0					3																	121355331		2203	4300	6503	SO:0001583	missense	3059				erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:121355331C>T		CCDS3003.1	3q13	2007-08-03			ENSG00000180353	ENSG00000180353			4844	protein-coding gene	gene with protein product	"""cortactin-like"""	601306				8978766, 15710041	Standard	NM_001292041		Approved	HS1, CTTNL	uc003eeh.4	P14317	OTTHUMG00000159409	ENST00000314583.3:c.571G>A	3.37:g.121355331C>T	ENSP00000320176:p.Ala191Thr					HCLS1_uc011bjj.1_Missense_Mutation_p.A154T|HCLS1_uc011bjk.1_RNA	p.A191T	NM_005335	NP_005326	P14317	HCLS1_HUMAN		GBM - Glioblastoma multiforme(114;0.0912)	8	696	-			191			Cortactin 4; truncated.		B4DQ69|Q53Y93|Q6IBK9|Q9UDK0	Missense_Mutation	SNP	ENST00000314583.3	37	c.571G>A	CCDS3003.1	.	.	.	.	.	.	.	.	.	.	C	15.68	2.905862	0.52333	.	.	ENSG00000180353	ENST00000314583;ENST00000428394	T;T	0.21191	2.04;2.02	4.73	4.73	0.59995	.	0.369357	0.31134	N	0.008192	T	0.19685	0.0473	L	0.35487	1.065	0.47698	D	0.99949	P;P	0.47034	0.889;0.623	P;P	0.47786	0.557;0.518	T	0.00867	-1.1534	10	0.31617	T	0.26	-11.907	8.755	0.34639	0.0:0.8995:0.0:0.1005	.	154;191	E7EVW7;P14317	.;HCLS1_HUMAN	T	191;154	ENSP00000320176:A191T;ENSP00000387645:A154T	ENSP00000320176:A191T	A	-	1	0	HCLS1	122838021	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.241000	0.32743	2.447000	0.82792	0.655000	0.94253	GCC		0.448	HCLS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355144.1	NM_005335		31	80	0	0	0	0.007835	0	31	80				
ZIC1	7545	broad.mit.edu	37	3	147130409	147130409	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr3:147130409C>A	ENST00000282928.4	+	2	1816	c.1087C>A	c.(1087-1089)Ctt>Att	p.L363I		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	363					adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L363I(1)		central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						CAAGCCCTATCTTTGCAAGAT	0.577																																							uc003ewe.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1087-1089)CTT>ATT		zinc finger protein of the cerebellum 1							156.0	122.0	133.0					3																	147130409		2203	4300	6503	SO:0001583	missense	7545				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:147130409C>A	D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"""Zinc fingers, C2H2-type"""	12872	protein-coding gene	gene with protein product		600470	"""Zic family member 1 (odd-paired Drosophila homolog)"", ""Zic family member 1 (odd-paired homolog, Drosophila)"""			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.1087C>A	3.37:g.147130409C>A	ENSP00000282928:p.Leu363Ile						p.L363I	NM_003412	NP_003403	Q15915	ZIC1_HUMAN			2	1806	+			363			C2H2-type 5.		Q2M3N1	Missense_Mutation	SNP	ENST00000282928.4	37	c.1087C>A	CCDS3136.1	.	.	.	.	.	.	.	.	.	.	C	14.29	2.490326	0.44249	.	.	ENSG00000152977	ENST00000282928	T	0.07567	3.18	4.12	4.12	0.48240	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	U	0.000002	T	0.06050	0.0157	N	0.10809	0.05	0.58432	D	0.999999	B	0.27117	0.168	B	0.30401	0.115	T	0.46275	-0.9203	10	0.25751	T	0.34	.	16.3755	0.83383	0.0:1.0:0.0:0.0	.	363	Q15915	ZIC1_HUMAN	I	363	ENSP00000282928:L363I	ENSP00000282928:L363I	L	+	1	0	ZIC1	148613099	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.709000	0.54853	1.846000	0.53633	0.462000	0.41574	CTT		0.577	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	NM_003412		19	100	1	0	1.01871e-10	0.008871	1.32985e-10	19	100				
GPR149	344758	broad.mit.edu	37	3	154147302	154147302	+	Missense_Mutation	SNP	A	A	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr3:154147302A>T	ENST00000389740.2	-	1	202	c.103T>A	c.(103-105)Tat>Aat	p.Y35N		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	35					antral ovarian follicle growth (GO:0001547)|estrous cycle phase (GO:0060206)|negative regulation of ovulation (GO:0060280)|preantral ovarian follicle growth (GO:0001546)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.Y35N(1)		autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			CAAAAAAGATAGATATTCAGG	0.393																																							uc003faa.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)	6						c.(103-105)TAT>AAT		G protein-coupled receptor 149							83.0	80.0	81.0					3																	154147302		1857	4102	5959	SO:0001583	missense	344758					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:154147302A>T	AY255534	CCDS43162.1	3q25.2	2012-08-21			ENSG00000174948	ENSG00000174948		"""GPCR / Class A : Orphans"""	23627	protein-coding gene	gene with protein product						12679517	Standard	NM_001038705		Approved	PGR10, IEDA	uc003faa.3	Q86SP6	OTTHUMG00000159131	ENST00000389740.2:c.103T>A	3.37:g.154147302A>T	ENSP00000374390:p.Tyr35Asn						p.Y35N	NM_001038705	NP_001033794	Q86SP6	GP149_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		1	203	-			35			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000389740.2	37	c.103T>A	CCDS43162.1	.	.	.	.	.	.	.	.	.	.	A	12.56	1.975867	0.34848	.	.	ENSG00000174948	ENST00000389740	T	0.37915	1.17	5.91	1.98	0.26296	.	0.566614	0.18991	N	0.125591	T	0.21186	0.0510	N	0.19112	0.55	0.09310	N	1	B	0.28128	0.201	B	0.24541	0.054	T	0.16482	-1.0401	10	0.66056	D	0.02	-0.7201	8.0469	0.30555	0.6785:0.2553:0.0662:0.0	.	35	Q86SP6	GP149_HUMAN	N	35	ENSP00000374390:Y35N	ENSP00000374390:Y35N	Y	-	1	0	GPR149	155629996	0.959000	0.32827	0.339000	0.25562	0.979000	0.70002	1.969000	0.40510	0.467000	0.27218	0.533000	0.62120	TAT		0.393	GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353430.1	XM_293580		18	132	0	0	0	0.010504	0	18	132				
SI	6476	broad.mit.edu	37	3	164756867	164756867	+	Splice_Site	SNP	G	G	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr3:164756867G>A	ENST00000264382.3	-	20	2362	c.2300C>T	c.(2299-2301)tCt>tTt	p.S767F		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	767	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)	p.S767F(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	GTTACTTACAGATTCATAATC	0.284										HNSCC(35;0.089)																													uc003fei.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(2299-2301)TCT>TTT		sucrase-isomaltase	Acarbose(DB00284)						47.0	48.0	47.0					3																	164756867		2202	4271	6473	SO:0001630	splice_region_variant	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164756867G>A	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.2301+1C>T	3.37:g.164756867G>A		HNSCC(35;0.089)					p.S767F	NM_001041	NP_001032	P14410	SUIS_HUMAN			20	2362	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	767			Lumenal.|Isomaltase.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.2300C>T	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	G	14.70	2.612375	0.46631	.	.	ENSG00000090402	ENST00000264382	D	0.91843	-2.92	5.12	5.12	0.69794	.	0.051150	0.85682	D	0.000000	D	0.91429	0.7295	L	0.39397	1.21	0.35911	D	0.831118	P	0.46578	0.88	P	0.48552	0.581	D	0.94485	0.7696	10	0.87932	D	0	.	17.4951	0.87715	0.0:0.0:1.0:0.0	.	767	P14410	SUIS_HUMAN	F	767	ENSP00000264382:S767F	ENSP00000264382:S767F	S	-	2	0	SI	166239561	1.000000	0.71417	1.000000	0.80357	0.604000	0.37047	4.548000	0.60718	2.665000	0.90641	0.650000	0.86243	TCT		0.284	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041	Missense_Mutation	5	22	0	0	0	0.001168	0	5	22				
SAMD7	344658	broad.mit.edu	37	3	169656275	169656275	+	Missense_Mutation	SNP	G	G	A	rs373905806		TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr3:169656275G>A	ENST00000428432.2	+	9	1711	c.1322G>A	c.(1321-1323)cGa>cAa	p.R441Q	RP11-379K17.4_ENST00000487580.1_RNA|SAMD7_ENST00000335556.3_Missense_Mutation_p.R441Q	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	441								p.R441Q(1)		NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			GGAATTGAGCGAGGTAGTATG	0.413																																							uc003fgd.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1321-1323)CGA>CAA		sterile alpha motif domain containing 7							46.0	44.0	44.0					3																	169656275		2203	4300	6503	SO:0001583	missense	344658							g.chr3:169656275G>A	BX537903	CCDS3209.1	3q26.31	2013-01-10			ENSG00000187033	ENSG00000187033		"""Sterile alpha motif (SAM) domain containing"""	25394	protein-coding gene	gene with protein product							Standard	NM_182610		Approved	DKFZp686E1583	uc003fgd.3	Q7Z3H4	OTTHUMG00000158730	ENST00000428432.2:c.1322G>A	3.37:g.169656275G>A	ENSP00000391299:p.Arg441Gln					SAMD7_uc003fge.2_Missense_Mutation_p.R441Q|SAMD7_uc011bpo.1_Missense_Mutation_p.R342Q	p.R441Q	NM_182610	NP_872416	Q7Z3H4	SAMD7_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)		9	1589	+	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		441						Missense_Mutation	SNP	ENST00000428432.2	37	c.1322G>A	CCDS3209.1	.	.	.	.	.	.	.	.	.	.	G	2.933	-0.220698	0.06061	.	.	ENSG00000187033	ENST00000428432;ENST00000335556	T;T	0.44482	0.92;0.92	4.46	-4.91	0.03085	.	1.222600	0.06130	N	0.670482	T	0.15219	0.0367	N	0.11560	0.145	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.24012	-1.0172	10	0.05833	T	0.94	0.2745	2.1063	0.03692	0.4817:0.1214:0.2769:0.12	.	441	Q7Z3H4	SAMD7_HUMAN	Q	441	ENSP00000391299:R441Q;ENSP00000334668:R441Q	ENSP00000334668:R441Q	R	+	2	0	SAMD7	171138969	0.110000	0.22057	0.009000	0.14445	0.058000	0.15608	-1.546000	0.02188	-0.757000	0.04697	-0.339000	0.08088	CGA		0.413	SAMD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351959.1	NM_182610		4	52	0	0	0	0.009096	0	4	52				
CPN2	1370	broad.mit.edu	37	3	194062055	194062055	+	Silent	SNP	C	C	T	rs373278468		TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr3:194062055C>T	ENST00000323830.3	-	2	1466	c.1377G>A	c.(1375-1377)ccG>ccA	p.P459P	CPN2_ENST00000429275.1_Silent_p.P459P	NM_001080513.2	NP_001073982	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	459					protein stabilization (GO:0050821)|regulation of catalytic activity (GO:0050790)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	enzyme regulator activity (GO:0030234)	p.P459P(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		TGCTTTCGTCCGGCCACGTGA	0.662																																							uc003fts.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(5)	5						c.(1375-1377)CCG>CCA		carboxypeptidase N, polypeptide 2		C		0,4406		0,0,2203	66.0	68.0	67.0		1377	-1.2	0.0	3		67	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CPN2	NM_001080513.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		459/546	194062055	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1370				protein stabilization	extracellular region	enzyme regulator activity	g.chr3:194062055C>T	J05158	CCDS33920.1	3q29	2012-02-10	2007-02-23		ENSG00000178772	ENSG00000178772	3.4.17.3		2313	protein-coding gene	gene with protein product		603104	"""carboxypeptidase N, polypeptide 2, 83kD"""	ACBP		2378615, 9628828	Standard	XM_005269280		Approved		uc003fts.3	P22792	OTTHUMG00000156047	ENST00000323830.3:c.1377G>A	3.37:g.194062055C>T							p.P459P	NM_001080513	NP_001073982	P22792	CPN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)	2	1467	-	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		459					B2RPE7|Q86SU4|Q8N5V4	Silent	SNP	ENST00000323830.3	37	c.1377G>A	CCDS33920.1																																																																																				0.662	CPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342856.2	NM_001080513		17	142	0	0	0	0.007413	0	17	142				
WHSC1	7468	broad.mit.edu	37	4	1902791	1902791	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr4:1902791C>T	ENST00000382895.3	+	4	841	c.410C>T	c.(409-411)cCt>cTt	p.P137L	WHSC1_ENST00000503128.1_Missense_Mutation_p.P137L|WHSC1_ENST00000398261.1_Missense_Mutation_p.P137L|WHSC1_ENST00000436793.1_Missense_Mutation_p.P137L|WHSC1_ENST00000420906.2_Missense_Mutation_p.P137L|WHSC1_ENST00000382891.5_Missense_Mutation_p.P137L|WHSC1_ENST00000514045.1_Missense_Mutation_p.P137L|WHSC1_ENST00000508803.1_Missense_Mutation_p.P137L|WHSC1_ENST00000382892.2_Missense_Mutation_p.P137L	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	137					anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.P137L(2)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		AATGGGAAGCCTCTCTTTGAA	0.428			T	IGH@	MM																																		uc003gdz.3		NA		Dom	yes		4	4p16.3	7468	T	Wolf-Hirschhorn syndrome candidate 1(MMSET)			L	IGH@		MM		2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(3)|skin(2)|pancreas(1)	9						c.(409-411)CCT>CTT		Wolf-Hirschhorn syndrome candidate 1 protein							60.0	61.0	61.0					4																	1902791		2203	4300	6503	SO:0001583	missense	7468				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr4:1902791C>T	AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"""Zinc fingers, PHD-type"""	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.410C>T	4.37:g.1902791C>T	ENSP00000372351:p.Pro137Leu					WHSC1_uc003geb.3_Missense_Mutation_p.P137L|WHSC1_uc003gec.3_Missense_Mutation_p.P137L|WHSC1_uc003ged.3_Missense_Mutation_p.P137L|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gdx.2_Missense_Mutation_p.P137L|WHSC1_uc003gdy.1_Missense_Mutation_p.P137L|WHSC1_uc010icd.1_Missense_Mutation_p.P137L|WHSC1_uc003gea.1_Missense_Mutation_p.P137L|WHSC1_uc010ice.1_Missense_Mutation_p.P137L|WHSC1_uc003geg.1_Missense_Mutation_p.P137L|WHSC1_uc003geh.1_Missense_Mutation_p.P137L	p.P137L	NM_001042424	NP_001035889	O96028	NSD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)	2	586	+		all_epithelial(65;1.34e-05)	137					A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Missense_Mutation	SNP	ENST00000382895.3	37	c.410C>T	CCDS33940.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.460528	0.84317	.	.	ENSG00000109685	ENST00000508803;ENST00000514045;ENST00000515806;ENST00000382891;ENST00000382892;ENST00000436793;ENST00000420906;ENST00000382895;ENST00000503128;ENST00000509115;ENST00000398261	D;T;T;D;D;T;T;D;T;T;T	0.95342	-3.68;0.93;0.57;-3.68;-3.68;0.84;0.93;-3.68;0.91;1.12;0.91	4.94	4.94	0.65067	.	0.000000	0.56097	D	0.000037	D	0.96448	0.8841	L	0.53249	1.67	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.919;0.999;0.999	D	0.96891	0.9653	10	0.72032	D	0.01	.	18.3639	0.90384	0.0:1.0:0.0:0.0	.	137;137;137;137;137	O96028-3;O96028-7;O96028;O96028-5;O96028-6	.;.;NSD2_HUMAN;.;.	L	137	ENSP00000423972:P137L;ENSP00000421681:P137L;ENSP00000427434:P137L;ENSP00000372347:P137L;ENSP00000372348:P137L;ENSP00000416725:P137L;ENSP00000399251:P137L;ENSP00000372351:P137L;ENSP00000425761:P137L;ENSP00000422878:P137L;ENSP00000381311:P137L	ENSP00000308780:P137L	P	+	2	0	WHSC1	1872589	1.000000	0.71417	0.999000	0.59377	0.962000	0.63368	4.236000	0.58675	2.553000	0.86117	0.655000	0.94253	CCT		0.428	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366269.2	NM_133330		12	59	0	0	0	0.013537	0	12	59				
DRD5	1816	broad.mit.edu	37	4	9784902	9784902	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr4:9784902G>A	ENST00000304374.2	+	1	1645	c.1249G>A	c.(1249-1251)Gcc>Acc	p.A417T		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	417					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)	p.A417T(2)		NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	GATGCCCAACGCCGTTACCCC	0.557																																							uc003gmb.3		NA																	2	Substitution - Missense(2)		large_intestine(1)|lung(1)	skin(1)	1						c.(1249-1251)GCC>ACC		dopamine receptor D5	Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)						92.0	77.0	82.0					4																	9784902		2203	4300	6503	SO:0001583	missense	1816				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		g.chr4:9784902G>A	X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"""GPCR / Class A : Dopamine receptors"""	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.1249G>A	4.37:g.9784902G>A	ENSP00000306129:p.Ala417Thr						p.A417T	NM_000798	NP_000789	P21918	DRD5_HUMAN			1	1645	+			417			Cytoplasmic (Potential).		B2R9S3|Q8NEQ8	Missense_Mutation	SNP	ENST00000304374.2	37	c.1249G>A	CCDS3405.1	.	.	.	.	.	.	.	.	.	.	g	11.36	1.616362	0.28801	.	.	ENSG00000169676	ENST00000304374	T	0.66638	-0.22	4.84	4.84	0.62591	.	0.383933	0.25197	N	0.032419	T	0.59514	0.2199	L	0.52126	1.63	0.39639	D	0.970296	D	0.52996	0.957	B	0.38194	0.267	T	0.64728	-0.6339	10	0.33940	T	0.23	.	17.1374	0.86743	0.0:0.0:1.0:0.0	.	417	P21918	DRD5_HUMAN	T	417	ENSP00000306129:A417T	ENSP00000306129:A417T	A	+	1	0	DRD5	9394000	1.000000	0.71417	0.012000	0.15200	0.019000	0.09904	9.202000	0.95026	2.515000	0.84797	0.460000	0.39030	GCC		0.557	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1			8	65	0	0	0	0.008291	0	8	65				
SLC34A2	10568	broad.mit.edu	37	4	25674768	25674768	+	Missense_Mutation	SNP	A	A	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr4:25674768A>T	ENST00000382051.3	+	10	1158	c.1108A>T	c.(1108-1110)Ata>Tta	p.I370L	SLC34A2_ENST00000504570.1_Missense_Mutation_p.I369L|SLC34A2_ENST00000503434.1_Missense_Mutation_p.I369L	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	370					aging (GO:0007568)|cellular phosphate ion homeostasis (GO:0030643)|in utero embryonic development (GO:0001701)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|response to fructose (GO:0009750)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	phosphate ion binding (GO:0042301)|sodium ion binding (GO:0031402)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)	p.I370L(1)	SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				CATCTTGCTCATACTCTCCCT	0.527			T	ROS1	NSCLC																																		uc003grr.2		NA		Dom	yes		4	4p15.2	10568		"""solute carrier family 34 (sodium phosphate), member 2"""			E					1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)|kidney(1)	5						c.(1108-1110)ATA>TTA		solute carrier family 34 (sodium phosphate),							217.0	188.0	198.0					4																	25674768		2203	4300	6503	SO:0001583	missense	10568				cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr4:25674768A>T	AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765		"""Solute carriers"""	11020	protein-coding gene	gene with protein product		604217	"""solute carrier family 34 (sodium phosphate), member 2"""			10329428, 10610722	Standard	NM_006424		Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.1108A>T	4.37:g.25674768A>T	ENSP00000371483:p.Ile370Leu					SLC34A2_uc003grs.2_Missense_Mutation_p.I369L|SLC34A2_uc010iev.2_Missense_Mutation_p.I369L	p.I370L	NM_006424	NP_006415	O95436	NPT2B_HUMAN			10	1189	+		Breast(46;0.0503)	370			Helical; Name=M4; (Potential).		A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	Missense_Mutation	SNP	ENST00000382051.3	37	c.1108A>T	CCDS3435.1	.	.	.	.	.	.	.	.	.	.	A	8.265	0.811951	0.16537	.	.	ENSG00000157765	ENST00000504570;ENST00000382051;ENST00000503434	T;T;T	0.21932	1.98;1.98;1.98	5.09	-10.2	0.00374	.	0.466770	0.24820	N	0.035326	T	0.08980	0.0222	N	0.26130	0.795	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.10450	0.005;0.001	T	0.29822	-0.9999	10	0.08837	T	0.75	-0.4945	12.8504	0.57855	0.1131:0.0:0.6802:0.2068	.	369;370	O95436-2;O95436	.;NPT2B_HUMAN	L	369;370;369	ENSP00000425501:I369L;ENSP00000371483:I370L;ENSP00000423021:I369L	ENSP00000371483:I370L	I	+	1	0	SLC34A2	25283866	0.954000	0.32549	0.000000	0.03702	0.135000	0.20990	1.056000	0.30480	-2.179000	0.00767	-0.411000	0.06167	ATA		0.527	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214990.1	NM_006424		18	126	0	0	0	0.007413	0	18	126				
PDGFRA	5156	broad.mit.edu	37	4	55156545	55156545	+	Silent	SNP	G	G	C			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr4:55156545G>C	ENST00000257290.5	+	22	3277	c.2946G>C	c.(2944-2946)gtG>gtC	p.V982V	FIP1L1_ENST00000507166.1_Silent_p.V742V	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	982					adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.V982V(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	GCATGCGTGTGGACTCAGACA	0.453			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	Pancreas(151;208 1913 7310 23853 37092)	uc003han.3		NA		Dom	yes		4	4q11-q13	5156	Mis|O|T	"""platelet-derived growth factor, alpha-receptor"""			"""L, M, O"""	FIP1L1		GIST|idiopathic hypereosinophilic syndrome		1	Substitution - coding silent(1)		lung(1)	soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674						c.(2944-2946)GTG>GTC		platelet-derived growth factor receptor alpha	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						159.0	137.0	144.0					4																	55156545		2203	4300	6503	SO:0001819	synonymous_variant	5156	Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55156545G>C	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.2946G>C	4.37:g.55156545G>C		TSP Lung(21;0.16)				PDGFRA_uc003haa.2_Silent_p.V742V	p.V982V	NM_006206	NP_006197	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		22	3277	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		982			Cytoplasmic (Potential).		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Silent	SNP	ENST00000257290.5	37	c.2946G>C	CCDS3495.1																																																																																				0.453	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		25	146	0	0	0	0.005443	0	25	146				
TMPRSS11D	9407	broad.mit.edu	37	4	68699064	68699064	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr4:68699064C>G	ENST00000283916.6	-	7	648	c.550G>C	c.(550-552)Gag>Cag	p.E184Q	TMPRSS11D_ENST00000545541.1_Missense_Mutation_p.E67Q|TMPRSS11D_ENST00000509584.1_5'UTR|UBA6-AS1_ENST00000500538.2_RNA	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	184					proteolysis (GO:0006508)|respiratory gaseous exchange (GO:0007585)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)	p.E184Q(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						ATTCTCTGCTCAGACAATGTT	0.507																																							uc003hdq.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(550-552)GAG>CAG		transmembrane protease, serine 11D							143.0	134.0	137.0					4																	68699064		2203	4300	6503	SO:0001583	missense	9407				proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:68699064C>G	AB002134	CCDS3518.1	4q13.2	2010-04-13			ENSG00000153802	ENSG00000153802		"""Serine peptidases / Transmembrane"""	24059	protein-coding gene	gene with protein product	"""airway trypsin like protease"""	605369				9565616, 9070615	Standard	XM_005265710		Approved		uc003hdq.3	O60235	OTTHUMG00000129300	ENST00000283916.6:c.550G>C	4.37:g.68699064C>G	ENSP00000283916:p.Glu184Gln					LOC550112_uc003hdl.3_Intron|TMPRSS11D_uc003hdp.2_5'UTR|TMPRSS11D_uc011caj.1_Missense_Mutation_p.E67Q	p.E184Q	NM_004262	NP_004253	O60235	TM11D_HUMAN			7	615	-			184			Extracellular (Potential).		Q08AF6	Missense_Mutation	SNP	ENST00000283916.6	37	c.550G>C	CCDS3518.1	.	.	.	.	.	.	.	.	.	.	C	8.601	0.886952	0.17540	.	.	ENSG00000153802	ENST00000283916;ENST00000545541	T;T	0.58797	0.31;0.31	5.6	4.67	0.58626	Peptidase cysteine/serine, trypsin-like (1);	0.719141	0.12599	N	0.454866	T	0.34571	0.0902	N	0.08118	0	0.09310	N	1	P	0.38335	0.627	B	0.32090	0.14	T	0.06534	-1.0821	10	0.17369	T	0.5	.	14.8045	0.69942	0.1539:0.8461:0.0:0.0	.	184	O60235	TM11D_HUMAN	Q	184;67	ENSP00000283916:E184Q;ENSP00000442045:E67Q	ENSP00000283916:E184Q	E	-	1	0	TMPRSS11D	68381659	0.063000	0.20901	0.986000	0.45419	0.855000	0.48748	2.627000	0.46469	2.632000	0.89209	0.650000	0.86243	GAG		0.507	TMPRSS11D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251430.3	NM_004262		17	234	0	0	0	0.006122	0	17	234				
PTPN13	5783	broad.mit.edu	37	4	87730997	87730997	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr4:87730997G>A	ENST00000411767.2	+	46	7222	c.7159G>A	c.(7159-7161)Gat>Aat	p.D2387N	PTPN13_ENST00000436978.1_Missense_Mutation_p.D2392N|PTPN13_ENST00000427191.2_Missense_Mutation_p.D2368N|PTPN13_ENST00000316707.6_Missense_Mutation_p.D2196N|PTPN13_ENST00000511467.1_Missense_Mutation_p.D2392N			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	2387	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)	p.D2392N(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		TCAACCAGATGATCTGCTTAC	0.458																																							uc003hpz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(1)|kidney(1)	6						c.(7159-7161)GAT>AAT		protein tyrosine phosphatase, non-receptor type							177.0	162.0	167.0					4																	87730997		1969	4165	6134	SO:0001583	missense	5783					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity	g.chr4:87730997G>A		CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.7159G>A	4.37:g.87730997G>A	ENSP00000407249:p.Asp2387Asn					PTPN13_uc003hpy.2_Missense_Mutation_p.D2392N|PTPN13_uc003hqa.2_Missense_Mutation_p.D2368N|PTPN13_uc003hqb.2_Missense_Mutation_p.D2196N	p.D2387N	NM_080683	NP_542414	Q12923	PTN13_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00082)	46	7639	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	2387			Tyrosine-protein phosphatase.		B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	ENST00000411767.2	37	c.7159G>A	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.008782	0.75046	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	D;D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74;-1.74	5.38	3.59	0.41128	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.111883	0.39407	N	0.001374	T	0.77818	0.4187	L	0.28458	0.855	0.40692	D	0.982403	B;P;D;D	0.54397	0.014;0.851;0.966;0.958	B;P;P;P	0.51615	0.014;0.546;0.675;0.546	T	0.77713	-0.2485	10	0.59425	D	0.04	.	6.0811	0.19942	0.0721:0.1339:0.6553:0.1387	.	2196;2368;2387;2392	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	N	2368;2392;2196;2387;2392;2336	ENSP00000408368:D2368N;ENSP00000394794:D2392N;ENSP00000322675:D2196N;ENSP00000407249:D2387N;ENSP00000426626:D2392N	ENSP00000322675:D2196N	D	+	1	0	PTPN13	87950021	1.000000	0.71417	0.866000	0.34008	0.941000	0.58515	3.687000	0.54692	1.267000	0.44247	0.655000	0.94253	GAT		0.458	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1			16	133	0	0	0	0.007413	0	16	133				
ENPEP	2028	broad.mit.edu	37	4	111480849	111480849	+	Nonsense_Mutation	SNP	G	G	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr4:111480849G>T	ENST00000265162.5	+	19	3031	c.2689G>T	c.(2689-2691)Gag>Tag	p.E897*	ENPEP_ENST00000504100.1_3'UTR	NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	897					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.E897*(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		CACAATAGCAGAGCCATTCAA	0.353																																							uc003iab.3		NA																	1	Substitution - Nonsense(1)		lung(1)	skin(3)|ovary(1)|breast(1)	5						c.(2689-2691)GAG>TAG		glutamyl aminopeptidase	L-Glutamic Acid(DB00142)						93.0	91.0	92.0					4																	111480849		2203	4300	6503	SO:0001587	stop_gained	2028				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding	g.chr4:111480849G>T	L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"""CD molecules"""	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.2689G>T	4.37:g.111480849G>T	ENSP00000265162:p.Glu897*						p.E897*	NM_001977	NP_001968	Q07075	AMPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	19	3031	+		Hepatocellular(203;0.217)	897			Extracellular (Potential).		Q504U2	Nonsense_Mutation	SNP	ENST00000265162.5	37	c.2689G>T	CCDS3691.1	.	.	.	.	.	.	.	.	.	.	G	44	10.794370	0.99469	.	.	ENSG00000138792	ENST00000265162	.	.	.	5.27	5.27	0.74061	.	0.323267	0.35903	N	0.002908	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	.	9.6089	0.39650	0.0797:0.1552:0.765:0.0	.	.	.	.	X	897	.	ENSP00000265162:E897X	E	+	1	0	ENPEP	111700298	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	3.105000	0.50314	2.460000	0.83146	0.655000	0.94253	GAG		0.353	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255747.2			15	76	1	0	2.23348e-06	0.004007	2.60737e-06	15	76				
ANK2	287	broad.mit.edu	37	4	114279055	114279055	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr4:114279055C>A	ENST00000357077.4	+	38	9334	c.9281C>A	c.(9280-9282)cCa>cAa	p.P3094Q	ANK2_ENST00000264366.6_Missense_Mutation_p.P3061Q|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3094					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.P3094Q(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GAGGGGACCCCAACAAGTGAG	0.458																																							uc003ibe.3		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(9280-9282)CCA>CAA		ankyrin 2 isoform 1							53.0	56.0	55.0					4																	114279055		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	g.chr4:114279055C>A	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.9281C>A	4.37:g.114279055C>A	ENSP00000349588:p.Pro3094Gln					ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Missense_Mutation_p.P396Q|ANK2_uc011cgb.1_Missense_Mutation_p.P3109Q	p.P3094Q	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	9381	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	3061					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.9281C>A	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.237312	0.79800	.	.	ENSG00000145362	ENST00000357077;ENST00000264366;ENST00000505342	D;D;D	0.99804	-3.38;-3.41;-6.83	5.78	5.78	0.91487	.	0.000000	0.56097	D	0.000026	D	0.99757	0.9902	M	0.77313	2.365	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97702	1.0185	10	0.87932	D	0	.	20.0139	0.97470	0.0:1.0:0.0:0.0	.	3061;3094	Q01484;Q01484-4	ANK2_HUMAN;.	Q	3094;3061;104	ENSP00000349588:P3094Q;ENSP00000264366:P3061Q;ENSP00000422498:P104Q	ENSP00000264366:P3061Q	P	+	2	0	ANK2	114498504	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.304000	0.78882	2.724000	0.93272	0.563000	0.77884	CCA		0.458	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		19	63	1	0	7.45023e-12	0.010504	9.92115e-12	19	63				
FAT4	79633	broad.mit.edu	37	4	126389833	126389833	+	Silent	SNP	G	G	C			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr4:126389833G>C	ENST00000394329.3	+	11	12079	c.12066G>C	c.(12064-12066)cgG>cgC	p.R4022R	FAT4_ENST00000335110.5_Silent_p.R2285R	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4022	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R4022R(1)|p.R3987R(1)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CAGGCGACCGGGCTGAGTTTT	0.408																																							uc003ifj.3		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(12064-12066)CGG>CGC		FAT tumor suppressor homolog 4 precursor							83.0	83.0	83.0					4																	126389833		2203	4300	6503	SO:0001819	synonymous_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126389833G>C	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.12066G>C	4.37:g.126389833G>C						FAT4_uc011cgp.1_Silent_p.R2285R|FAT4_uc003ifi.1_Silent_p.R1500R	p.R4022R	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			11	12066	+			4022			Laminin G-like 1.|Extracellular (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	c.12066G>C	CCDS3732.3																																																																																				0.408	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		17	147	0	0	0	0.007413	0	17	147				
INPP4B	8821	broad.mit.edu	37	4	143033741	143033741	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr4:143033741C>G	ENST00000513000.1	-	23	2663	c.2230G>C	c.(2230-2232)Gta>Cta	p.V744L	INPP4B_ENST00000308502.4_Missense_Mutation_p.V744L|INPP4B_ENST00000509777.1_Missense_Mutation_p.V744L|INPP4B_ENST00000508116.1_Missense_Mutation_p.V744L|INPP4B_ENST00000262992.4_Missense_Mutation_p.V744L	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	744					cellular calcium ion homeostasis (GO:0006874)|inositol phosphate metabolic process (GO:0043647)|negative regulation of osteoclast differentiation (GO:0045671)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of bone remodeling (GO:0046850)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of protein kinase B signaling (GO:0051896)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	lipid binding (GO:0008289)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)	p.V744L(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					TTAAAAAGTACTGGATACACA	0.393																																							uc003iix.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(2230-2232)GTA>CTA		inositol polyphosphate-4-phosphatase, type II,							157.0	156.0	156.0					4																	143033741		2203	4300	6503	SO:0001583	missense	8821				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	g.chr4:143033741C>G	U96922	CCDS3757.1	4q31.1	2008-02-05	2002-08-29			ENSG00000109452			6075	protein-coding gene	gene with protein product		607494	"""inositol polyphosphate-4-phosphatase, type II, 105kD"""			9295334	Standard	NM_003866		Approved		uc003iiw.4	O15327		ENST00000513000.1:c.2230G>C	4.37:g.143033741C>G	ENSP00000425487:p.Val744Leu					INPP4B_uc003iiw.3_Missense_Mutation_p.V744L|INPP4B_uc011chm.1_RNA|INPP4B_uc011chn.1_Missense_Mutation_p.V559L|INPP4B_uc011cho.1_RNA	p.V744L	NM_003866	NP_003857	O15327	INP4B_HUMAN			23	2825	-	all_hematologic(180;0.158)		744					Q2TAI2|Q5XLE7|Q6IN59|Q6PJB4	Missense_Mutation	SNP	ENST00000513000.1	37	c.2230G>C	CCDS3757.1	.	.	.	.	.	.	.	.	.	.	C	18.38	3.610856	0.66558	.	.	ENSG00000109452	ENST00000513000;ENST00000262992;ENST00000308502;ENST00000543161;ENST00000508116;ENST00000509777;ENST00000511838;ENST00000542702;ENST00000510812;ENST00000514525	T;T;T;T;T;T;T;T	0.56611	0.93;0.93;0.93;0.93;0.91;0.9;0.57;0.45	5.8	4.03	0.46877	.	0.060765	0.64402	D	0.000004	T	0.60881	0.2303	M	0.83483	2.645	0.58432	D	0.999998	P	0.52170	0.951	P	0.49252	0.604	T	0.66352	-0.5945	10	0.66056	D	0.02	.	8.7592	0.34665	0.0:0.7386:0.1252:0.1362	.	744	O15327	INP4B_HUMAN	L	744;744;744;615;744;744;559;559;744;615	ENSP00000425487:V744L;ENSP00000262992:V744L;ENSP00000308441:V744L;ENSP00000423954:V744L;ENSP00000422793:V744L;ENSP00000426207:V559L;ENSP00000427250:V744L;ENSP00000421065:V615L	ENSP00000262992:V744L	V	-	1	0	INPP4B	143253191	0.998000	0.40836	0.140000	0.22221	0.962000	0.63368	3.519000	0.53458	1.454000	0.47793	0.650000	0.86243	GTA		0.393	INPP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364587.1	NM_003866		33	167	0	0	0	0.003755	0	33	167				
DCHS2	54798	broad.mit.edu	37	4	155249289	155249289	+	Missense_Mutation	SNP	G	G	T	rs111557030	byFrequency	TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr4:155249289G>T	ENST00000357232.4	-	12	2608	c.2609C>A	c.(2608-2610)cCt>cAt	p.P870H	DCHS2_ENST00000339452.1_Missense_Mutation_p.P1325H	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	870	Cadherin 7. {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)	p.P870H(1)|p.P1325H(1)		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)		TCCTTCATCAGGATCCTTTGC	0.348																																							uc003inw.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|pancreas(1)	4						c.(2608-2610)CCT>CAT		dachsous 2 isoform 1							130.0	129.0	129.0					4																	155249289		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155249289G>T	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.2609C>A	4.37:g.155249289G>T	ENSP00000349768:p.Pro870His					DCHS2_uc003inx.2_Missense_Mutation_p.P1325H	p.P870H	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	12	2609	-	all_hematologic(180;0.208)	Renal(120;0.0854)	870			Cadherin 7.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.2609C>A	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	G	18.25	3.582061	0.65992	.	.	ENSG00000197410	ENST00000357232;ENST00000339452;ENST00000544161	T;T	0.62364	0.03;0.03	5.67	2.07	0.26955	Cadherin (4);Cadherin-like (1);	0.662303	0.13901	N	0.354883	T	0.70996	0.3288	M	0.84156	2.68	0.53005	D	0.999967	P;D	0.54601	0.947;0.967	P;P	0.53954	0.527;0.738	T	0.67511	-0.5652	10	0.37606	T	0.19	.	7.9879	0.30222	0.6942:0.0:0.3058:0.0	.	1325;870	E9PC11;Q6V1P9	.;PCD23_HUMAN	H	870;1325;1325	ENSP00000349768:P870H;ENSP00000345062:P1325H	ENSP00000345062:P1325H	P	-	2	0	DCHS2	155468739	0.995000	0.38212	0.936000	0.37596	0.995000	0.86356	1.343000	0.33930	0.451000	0.26802	-0.302000	0.09304	CCT		0.348	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		46	141	1	0	6.27289e-28	0.01441	1.01361e-27	46	141				
GALNTL6	442117	broad.mit.edu	37	4	173734827	173734827	+	Silent	SNP	C	C	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr4:173734827C>A	ENST00000506823.1	+	7	1533	c.876C>A	c.(874-876)atC>atA	p.I292I	GALNTL6_ENST00000508122.1_Silent_p.I275I	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 6	292					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.I292I(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						ACAAAAGAATCCCCATCCCTC	0.562																																							uc003isv.2		NA																	1	Substitution - coding silent(1)		lung(1)	breast(2)|ovary(1)|skin(1)	4						c.(874-876)ATC>ATA		N-acetylgalactosaminyltransferase-like 6							83.0	80.0	81.0					4																	173734827		2203	4300	6503	SO:0001819	synonymous_variant	442117					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr4:173734827C>A		CCDS34104.1	4q34.1	2014-03-13	2014-03-13		ENSG00000174473	ENSG00000174473		"""Glycosyltransferase family 2 domain containing"""	33844	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase-like 6"""	615138	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6"""				Standard	NM_001034845		Approved	GALNT17, GalNAc-T6L	uc003isv.3	Q49A17	OTTHUMG00000160807	ENST00000506823.1:c.876C>A	4.37:g.173734827C>A							p.I292I	NM_001034845	NP_001030017	Q49A17	GLTL6_HUMAN			7	1612	+			292			Lumenal (Potential).		Q2L4S6	Silent	SNP	ENST00000506823.1	37	c.876C>A	CCDS34104.1																																																																																				0.562	GALNTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362395.1	NM_001034845		23	51	1	0	1.1804e-14	0.003954	1.69084e-14	23	51				
HAND2	9464	broad.mit.edu	37	4	174450016	174450016	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr4:174450016C>T	ENST00000359562.4	-	1	1364	c.425G>A	c.(424-426)cGc>cAc	p.R142H	HAND2-AS1_ENST00000512929.1_RNA|HAND2-AS1_ENST00000510221.1_RNA|HAND2-AS1_ENST00000507062.1_RNA|HAND2-AS1_ENST00000515345.1_RNA|HAND2-AS1_ENST00000510339.1_RNA|HAND2-AS1_ENST00000502941.1_RNA|HAND2-AS1_ENST00000503309.1_RNA|HAND2-AS1_ENST00000505032.1_RNA|HAND2-AS1_ENST00000510268.1_RNA|HAND2-AS1_ENST00000503474.1_RNA|HAND2_ENST00000505300.1_5'UTR|HAND2-AS1_ENST00000515741.1_RNA|HAND2-AS1_ENST00000515310.1_RNA|HAND2-AS1_ENST00000507571.1_RNA|HAND2-AS1_ENST00000505817.1_RNA|HAND2-AS1_ENST00000511728.1_RNA|HAND2-AS1_ENST00000507322.1_RNA|HAND2-AS1_ENST00000514431.1_RNA|HAND2-AS1_ENST00000512209.2_RNA|HAND2-AS1_ENST00000504740.1_RNA|HAND2-AS1_ENST00000509640.1_RNA|HAND2-AS1_ENST00000511196.1_RNA|HAND2-AS1_ENST00000502896.1_RNA|HAND2-AS1_ENST00000514673.1_RNA|HAND2-AS1_ENST00000515376.1_RNA|HAND2-AS1_ENST00000508534.1_RNA|HAND2-AS1_ENST00000503198.1_RNA|HAND2-AS1_ENST00000507636.1_RNA|HAND2-AS1_ENST00000515350.1_RNA|HAND2-AS1_ENST00000502334.1_RNA|HAND2-AS1_ENST00000508887.1_RNA|HAND2-AS1_ENST00000504429.1_RNA|HAND2-AS1_ENST00000505621.1_RNA|HAND2-AS1_ENST00000509866.1_RNA|HAND2-AS1_ENST00000512099.1_RNA|HAND2-AS1_ENST00000512943.1_RNA|HAND2-AS1_ENST00000512246.1_RNA	NM_021973.2	NP_068808.1	P61296	HAND2_HUMAN	heart and neural crest derivatives expressed 2	142	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				adult heart development (GO:0007512)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic process involved in heart morphogenesis (GO:0003278)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac neural crest cell migration involved in outflow tract morphogenesis (GO:0003253)|cardiac right ventricle formation (GO:0003219)|cartilage morphogenesis (GO:0060536)|cell proliferation involved in outflow tract morphogenesis (GO:0061325)|coronary artery morphogenesis (GO:0060982)|embryonic digit morphogenesis (GO:0042733)|heart development (GO:0007507)|heart looping (GO:0001947)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|mesenchymal cell proliferation (GO:0010463)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of DNA binding (GO:0043392)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|neural crest cell development (GO:0014032)|noradrenergic neuron differentiation (GO:0003357)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peripheral nervous system neuron development (GO:0048935)|positive regulation of semaphorin-plexin signaling pathway involved in outflow tract morphogenesis (GO:2000764)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in norepinephrine biosynthetic process (GO:2000763)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of transcription, DNA-templated (GO:0006355)|suckling behavior (GO:0001967)|sympathetic nervous system development (GO:0048485)|thymus development (GO:0048538)|tongue development (GO:0043586)|visceral serous pericardium development (GO:0061032)	nuclear chromatin (GO:0000790)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|AT DNA binding (GO:0003680)|E-box binding (GO:0070888)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.R142H(1)		endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	13		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)		all cancers(43;1.37e-18)|Epithelial(43;5.5e-17)|OV - Ovarian serous cystadenocarcinoma(60;3.3e-10)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		GGTGGCCAGGCGCAGGGTCTT	0.612																																							uc003ith.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(424-426)CGC>CAC		basic helix-loop-helix transcription factor							167.0	153.0	158.0					4																	174450016		2203	4300	6503	SO:0001583	missense	9464				adult heart development|angiogenesis|apoptosis|cardiac neural crest cell development involved in outflow tract morphogenesis|heart looping|in utero embryonic development|negative regulation of cardiac muscle cell apoptosis|noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|regulation of secondary heart field cardioblast proliferation|thymus development	nuclear chromatin|transcription factor complex	activating transcription factor binding|protein homodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|transcription coactivator activity	g.chr4:174450016C>T	AF087941	CCDS3819.1	4q34.1	2014-08-12			ENSG00000164107	ENSG00000164107		"""Basic helix-loop-helix proteins"""	4808	protein-coding gene	gene with protein product		602407				9878849	Standard	NM_021973		Approved	dHand, Thing2, Hed, bHLHa26	uc003ith.1	P61296	OTTHUMG00000160775	ENST00000359562.4:c.425G>A	4.37:g.174450016C>T	ENSP00000352565:p.Arg142His					NBLA00301_uc011ckd.1_5'Flank|NBLA00301_uc003itl.3_5'Flank|NBLA00301_uc003itj.2_5'Flank|NBLA00301_uc010irf.2_5'Flank|NBLA00301_uc010irg.2_5'Flank|NBLA00301_uc010irh.2_5'Flank|NBLA00301_uc010iri.2_5'Flank|NBLA00301_uc010irj.2_5'Flank|NBLA00301_uc010irk.2_5'Flank|NBLA00301_uc010irl.2_5'Flank|NBLA00301_uc010irm.2_5'Flank|NBLA00301_uc010irn.2_5'Flank|NBLA00301_uc003itk.2_5'Flank|HAND2_uc003itg.1_Silent_p.A107A|HAND2_uc010ire.1_Missense_Mutation_p.R142H	p.R142H	NM_021973	NP_068808	P61296	HAND2_HUMAN		all cancers(43;1.37e-18)|Epithelial(43;5.5e-17)|OV - Ovarian serous cystadenocarcinoma(60;3.3e-10)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)	1	1363	-		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)	142			Helix-loop-helix motif.		B6ECG9|O95300|O95301|P97833|Q494T1	Missense_Mutation	SNP	ENST00000359562.4	37	c.425G>A	CCDS3819.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.779442	0.90195	.	.	ENSG00000164107	ENST00000359562;ENST00000393686;ENST00000535864	D	0.98249	-4.82	4.72	4.72	0.59763	Helix-loop-helix DNA-binding (5);	0.055039	0.64402	N	0.000001	D	0.98642	0.9545	M	0.62266	1.93	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.99884	1.1119	10	0.87932	D	0	-18.2081	17.9015	0.88905	0.0:1.0:0.0:0.0	.	142;142	B6ECG9;P61296	.;HAND2_HUMAN	H	142;111;90	ENSP00000352565:R142H	ENSP00000352565:R142H	R	-	2	0	HAND2	174686591	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	7.645000	0.83430	2.446000	0.82766	0.561000	0.74099	CGC		0.612	HAND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362241.3			10	108	0	0	0	0.003163	0	10	108				
CTNND2	1501	broad.mit.edu	37	5	11732279	11732279	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr5:11732279G>T	ENST00000304623.8	-	2	332	c.143C>A	c.(142-144)aCc>aAc	p.T48N	CTNND2_ENST00000359640.2_Missense_Mutation_p.T48N|CTNND2_ENST00000458100.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	48					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.T48N(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GATGGCAGAGGTGGTTTCTGT	0.473																																							uc003jfa.1		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						c.(142-144)ACC>AAC		catenin (cadherin-associated protein), delta 2							148.0	142.0	144.0					5																	11732279		2203	4300	6503	SO:0001583	missense	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11732279G>T	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.143C>A	5.37:g.11732279G>T	ENSP00000307134:p.Thr48Asn					CTNND2_uc011cmz.1_5'UTR|CTNND2_uc010itu.1_RNA	p.T48N	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN			2	288	-			48					B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	c.143C>A	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.938904	0.92526	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000502551;ENST00000508761	D;D	0.83673	-1.62;-1.75	5.91	5.91	0.95273	.	0.000000	0.45867	D	0.000325	D	0.89396	0.6703	L	0.54323	1.7	0.80722	D	1	D	0.63880	0.993	D	0.72338	0.977	D	0.89635	0.3858	10	0.87932	D	0	-25.3477	17.7899	0.88548	0.0:0.0:1.0:0.0	.	48	Q9UQB3	CTND2_HUMAN	N	48;48;34;34	ENSP00000307134:T48N;ENSP00000352661:T48N	ENSP00000307134:T48N	T	-	2	0	CTNND2	11785279	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.130000	0.94437	2.796000	0.96246	0.643000	0.83706	ACC		0.473	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		44	293	1	0	2.24722e-20	0.01441	3.36448e-20	44	293				
UGT3A1	133688	broad.mit.edu	37	5	35954564	35954564	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr5:35954564C>A	ENST00000274278.3	-	7	1669	c.1312G>T	c.(1312-1314)Gtg>Ttg	p.V438L	UGT3A1_ENST00000513233.1_5'Flank	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	438						integral component of membrane (GO:0016021)|UDP-N-acetylglucosamine transferase complex (GO:0043541)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)	p.V438L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTGGCTGCCACCACTGCCGAC	0.587																																							uc003jjv.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1312-1314)GTG>TTG		UDP glycosyltransferase 3 family, polypeptide A1							42.0	38.0	39.0					5																	35954564		2203	4300	6503	SO:0001583	missense	133688					integral to membrane	glucuronosyltransferase activity	g.chr5:35954564C>A		CCDS3913.1, CCDS54841.1	5p13.2	2014-05-20			ENSG00000145626	ENSG00000145626		"""UDP glucuronosyltransferases"""	26625	protein-coding gene	gene with protein product							Standard	NM_152404		Approved	FLJ34658	uc003jjv.2	Q6NUS8	OTTHUMG00000131107	ENST00000274278.3:c.1312G>T	5.37:g.35954564C>A	ENSP00000274278:p.Val438Leu					UGT3A1_uc003jjw.1_RNA	p.V438L	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		7	1469	-	all_lung(31;0.000197)		438			Extracellular (Potential).		G5E961|Q8IYS9|Q8NAW4|Q96DM6	Missense_Mutation	SNP	ENST00000274278.3	37	c.1312G>T	CCDS3913.1	.	.	.	.	.	.	.	.	.	.	.	3.776	-0.046616	0.07407	.	.	ENSG00000145626	ENST00000274278	T	0.57436	0.4	3.39	1.47	0.22746	.	0.539852	0.16591	U	0.207770	T	0.40619	0.1124	L	0.42581	1.335	0.09310	N	0.999998	B	0.02656	0.0	B	0.14023	0.01	T	0.35525	-0.9785	10	0.62326	D	0.03	.	6.2512	0.20848	0.0:0.5139:0.0:0.4861	.	438	Q6NUS8	UD3A1_HUMAN	L	438	ENSP00000274278:V438L	ENSP00000274278:V438L	V	-	1	0	UGT3A1	35990321	0.056000	0.20664	0.033000	0.17914	0.008000	0.06430	0.581000	0.23819	0.210000	0.20664	0.411000	0.27672	GTG		0.587	UGT3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253770.2	NM_152404		12	26	1	0	3.27435e-08	0.00245	4.05469e-08	12	26				
MROH2B	133558	broad.mit.edu	37	5	41038956	41038956	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr5:41038956G>T	ENST00000399564.4	-	21	2546	c.2096C>A	c.(2095-2097)aCa>aAa	p.T699K	MROH2B_ENST00000506092.2_Missense_Mutation_p.T254K	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	699								p.T699K(1)									CATGACATCTGTCTTGGTCAG	0.433																																							uc003jmj.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|central_nervous_system(2)	8						c.(2095-2097)ACA>AAA		HEAT repeat family member 7B2							71.0	68.0	69.0					5																	41038956		1850	4090	5940	SO:0001583	missense	133558						binding	g.chr5:41038956G>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.2096C>A	5.37:g.41038956G>T	ENSP00000382476:p.Thr699Lys					HEATR7B2_uc003jmi.3_Missense_Mutation_p.T254K	p.T699K	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN			21	2586	-			699			HEAT 8.		Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.2096C>A	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.085405	0.55861	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.67523	5.0;-0.27	5.93	2.76	0.32466	Armadillo-type fold (1);	0.238087	0.29940	N	0.010820	T	0.60932	0.2307	L	0.44542	1.39	0.29180	N	0.876532	P	0.45827	0.867	P	0.47346	0.544	T	0.57934	-0.7725	10	0.49607	T	0.09	.	8.3321	0.32193	0.2816:0.0:0.7184:0.0	.	699	Q7Z745	HTRB2_HUMAN	K	254;404;699	ENSP00000441504:T254K;ENSP00000382476:T699K	ENSP00000296803:T404K	T	-	2	0	HEATR7B2	41074713	0.995000	0.38212	0.974000	0.42286	0.843000	0.47879	2.243000	0.43115	0.837000	0.34925	0.655000	0.94253	ACA		0.433	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		28	60	1	0	9.78306e-22	0.009535	1.48995e-21	28	60				
HCN1	348980	broad.mit.edu	37	5	45262097	45262097	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr5:45262097G>T	ENST00000303230.4	-	8	2656	c.2599C>A	c.(2599-2601)Ctt>Att	p.L867I		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	867					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.L867I(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TCTCTTGGAAGAGCAGCTGCT	0.552																																							uc003jok.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2599-2601)CTT>ATT		hyperpolarization activated cyclic							71.0	84.0	80.0					5																	45262097		2203	4300	6503	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45262097G>T	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.2599C>A	5.37:g.45262097G>T	ENSP00000307342:p.Leu867Ile						p.L867I	NM_021072	NP_066550	O60741	HCN1_HUMAN			8	2624	-			867			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000303230.4	37	c.2599C>A	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	g	7.778	0.708810	0.15239	.	.	ENSG00000164588	ENST00000303230	D	0.97378	-4.36	5.01	4.12	0.48240	.	0.303746	0.22630	N	0.057598	D	0.91099	0.7198	N	0.12182	0.205	0.09310	N	0.999999	B	0.22604	0.072	B	0.20384	0.029	T	0.82910	-0.0223	10	0.31617	T	0.26	.	8.6527	0.34044	0.1244:0.1433:0.7324:0.0	.	867	O60741	HCN1_HUMAN	I	867	ENSP00000307342:L867I	ENSP00000307342:L867I	L	-	1	0	HCN1	45297854	1.000000	0.71417	0.818000	0.32626	0.698000	0.40448	3.256000	0.51492	1.200000	0.43188	0.651000	0.88453	CTT		0.552	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		60	177	1	0	6.26901e-30	0.01441	1.02549e-29	60	177				
SV2C	22987	broad.mit.edu	37	5	75596736	75596736	+	Missense_Mutation	SNP	A	A	G			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr5:75596736A>G	ENST00000502798.2	+	11	2261	c.1819A>G	c.(1819-1821)Att>Gtt	p.I607V	RP11-466P24.6_ENST00000502589.1_RNA|SV2C_ENST00000322285.7_Missense_Mutation_p.I607V	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	607					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)	p.I607V(1)		NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		GATGGACAGAATTGGGCGCTT	0.463																																							uc003kei.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1819-1821)ATT>GTT		synaptic vesicle glycoprotein 2C							177.0	159.0	165.0					5																	75596736		1918	4129	6047	SO:0001583	missense	22987				neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr5:75596736A>G	AB028977	CCDS43331.1, CCDS75261.1	5q13	2008-02-05			ENSG00000122012	ENSG00000122012			30670	protein-coding gene	gene with protein product		610291				10470851, 9801366	Standard	XM_005248470		Approved		uc003kei.1	Q496J9	OTTHUMG00000162384	ENST00000502798.2:c.1819A>G	5.37:g.75596736A>G	ENSP00000423541:p.Ile607Val						p.I607V	NM_014979	NP_055794	Q496J9	SV2C_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)	11	1953	+		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)	607			Cytoplasmic (Potential).		Q496K1|Q9UPU8	Missense_Mutation	SNP	ENST00000502798.2	37	c.1819A>G	CCDS43331.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.393186	0.83011	.	.	ENSG00000122012	ENST00000502798;ENST00000322285	T;T	0.37752	1.18;1.18	5.68	5.68	0.88126	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.43322	0.1242	L	0.58669	1.825	0.58432	D	0.999998	P	0.45396	0.857	P	0.45946	0.498	T	0.31558	-0.9939	10	0.41790	T	0.15	-26.5207	15.9159	0.79517	1.0:0.0:0.0:0.0	.	607	Q496J9	SV2C_HUMAN	V	607	ENSP00000423541:I607V;ENSP00000316983:I607V	ENSP00000316983:I607V	I	+	1	0	SV2C	75632492	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.339000	0.96797	2.163000	0.67991	0.482000	0.46254	ATT		0.463	SV2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368700.4			94	132	0	0	0	0.01441	0	94	132				
THBS4	7060	broad.mit.edu	37	5	79351687	79351687	+	Silent	SNP	G	G	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr5:79351687G>T	ENST00000350881.2	+	3	562	c.372G>T	c.(370-372)cgG>cgT	p.R124R	CTD-2201I18.1_ENST00000503007.1_RNA|THBS4_ENST00000511733.1_Silent_p.R33R	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	124	Laminin G-like.				behavioral response to pain (GO:0048266)|endothelial cell-cell adhesion (GO:0071603)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of tissue remodeling (GO:0034103)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|tissue remodeling (GO:0048771)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)|integrin binding (GO:0005178)	p.R124R(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		ACGGAAGGCGGCACAGGATCC	0.567																																							uc003kgh.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(370-372)CGG>CGT		thrombospondin 4 precursor							126.0	131.0	129.0					5																	79351687		2203	4300	6503	SO:0001819	synonymous_variant	7060				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity	g.chr5:79351687G>T		CCDS4049.1	5q13	2008-05-15			ENSG00000113296	ENSG00000113296			11788	protein-coding gene	gene with protein product		600715				7852353	Standard	NM_003248		Approved		uc021yaw.1	P35443	OTTHUMG00000108173	ENST00000350881.2:c.372G>T	5.37:g.79351687G>T							p.R124R	NM_003248	NP_003239	P35443	TSP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)	4	695	+		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)	124			TSP N-terminal.		B2R909|Q86TG2	Silent	SNP	ENST00000350881.2	37	c.372G>T	CCDS4049.1																																																																																				0.567	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226977.1			13	186	1	0	0.00010058	0.013537	0.000110139	13	186				
PCDHB8	56128	broad.mit.edu	37	5	140559207	140559207	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr5:140559207G>A	ENST00000239444.2	+	1	1837	c.1592G>A	c.(1591-1593)cGg>cAg	p.R531Q	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	531	Cadherin 5. {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)	p.R531Q(1)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCGAGTTCCGGGTGGGCGCT	0.672																																							uc011dai.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(4)	4						c.(1591-1593)CGG>CAG		protocadherin beta 8 precursor							86.0	142.0	123.0					5																	140559207		2203	4300	6503	SO:0001583	missense	56128				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140559207G>A	AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"""Cadherins / Protocadherins : Clustered"""	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.1592G>A	5.37:g.140559207G>A	ENSP00000239444:p.Arg531Gln					PCDHB16_uc003liv.2_5'Flank|PCDHB16_uc010jfw.1_5'Flank	p.R531Q	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1778	+			531			Cadherin 5.|Extracellular (Potential).		B9EGV1	Missense_Mutation	SNP	ENST00000239444.2	37	c.1592G>A	CCDS4250.1	.	.	.	.	.	.	.	.	.	.	G	4.255	0.046262	0.08243	.	.	ENSG00000120322	ENST00000239444	T	0.01725	4.67	4.22	1.18	0.20946	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.01254	0.0041	N	0.16567	0.415	0.09310	N	1	B	0.24368	0.102	B	0.23150	0.044	T	0.49634	-0.8919	9	0.23891	T	0.37	.	5.11	0.14804	0.3402:0.2748:0.3849:0.0	.	531	Q9UN66	PCDB8_HUMAN	Q	531	ENSP00000239444:R531Q	ENSP00000239444:R531Q	R	+	2	0	PCDHB8	140539391	0.000000	0.05858	0.761000	0.31378	0.153000	0.21895	-1.080000	0.03407	0.245000	0.21373	0.298000	0.19748	CGG		0.672	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120		29	219	0	0	0	0.008361	0	29	219				
FBXO38	81545	broad.mit.edu	37	5	147813274	147813274	+	Missense_Mutation	SNP	A	A	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr5:147813274A>T	ENST00000340253.5	+	17	2999	c.2831A>T	c.(2830-2832)gAc>gTc	p.D944V	FBXO38_ENST00000296701.6_Missense_Mutation_p.D699V|CTD-2283N19.1_ENST00000520980.2_RNA|FBXO38_ENST00000513826.1_Missense_Mutation_p.D699V|FBXO38_ENST00000394370.3_Missense_Mutation_p.D869V			Q6PIJ6	FBX38_HUMAN	F-box protein 38	944					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.D944V(1)	ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGCTAAAAGACTGTCCAAAG	0.333																																							uc003lpf.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)	6						c.(2830-2832)GAC>GTC		F-box protein 38 isoform b							145.0	147.0	146.0					5																	147813274		2203	4300	6503	SO:0001583	missense	81545					cytoplasm|nucleus		g.chr5:147813274A>T	BC005873	CCDS43384.1, CCDS64285.1	5q33.1	2008-02-05			ENSG00000145868	ENSG00000145868		"""F-boxes /  ""other"""""	28844	protein-coding gene	gene with protein product		608533				12477932	Standard	NM_030793		Approved	MOKA, SP329, FLJ13962, Fbx38	uc003lpg.2	Q6PIJ6	OTTHUMG00000129929	ENST00000340253.5:c.2831A>T	5.37:g.147813274A>T	ENSP00000342023:p.Asp944Val					FBXO38_uc003lpg.1_Missense_Mutation_p.D869V|FBXO38_uc003lph.2_Missense_Mutation_p.D699V	p.D944V	NM_205836	NP_995308	Q6PIJ6	FBX38_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		17	2951	+			944					Q6PK72|Q7Z2U0|Q86VN3|Q9BXY6|Q9H837|Q9HC40	Missense_Mutation	SNP	ENST00000340253.5	37	c.2831A>T		.	.	.	.	.	.	.	.	.	.	A	21.9	4.219712	0.79464	.	.	ENSG00000145868	ENST00000340253;ENST00000296701;ENST00000394370;ENST00000513826	T;T;T;T	0.42900	0.96;1.05;1.03;1.05	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.50973	0.1647	L	0.32530	0.975	0.58432	D	0.999996	D;D;D	0.67145	0.971;0.996;0.996	P;D;D	0.64410	0.624;0.925;0.925	T	0.51521	-0.8695	10	0.51188	T	0.08	-19.6117	14.1172	0.65161	1.0:0.0:0.0:0.0	.	699;869;944	Q6PIJ6-3;Q6PIJ6-2;Q6PIJ6	.;.;FBX38_HUMAN	V	944;699;869;699	ENSP00000342023:D944V;ENSP00000296701:D699V;ENSP00000377895:D869V;ENSP00000426410:D699V	ENSP00000296701:D699V	D	+	2	0	FBXO38	147793467	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	8.939000	0.92951	2.069000	0.61940	0.460000	0.39030	GAC		0.333	FBXO38-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000252185.2	NM_030793		38	145	0	0	0	0.005524	0	38	145				
LARP1	23367	broad.mit.edu	37	5	154169891	154169891	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr5:154169891C>T	ENST00000336314.4	+	2	236	c.212C>T	c.(211-213)tCt>tTt	p.S71F		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	148					cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)	p.S148F(1)|p.S71F(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ACAGAACACTCTGCTCCAGCC	0.547																																							uc003lvp.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)|skin(1)	4						c.(442-444)TCT>TTT		la related protein isoform 2							101.0	93.0	95.0					5																	154169891		2203	4300	6503	SO:0001583	missense	23367						protein binding|RNA binding	g.chr5:154169891C>T	AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"""La ribonucleoprotein domain containing"""	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.212C>T	5.37:g.154169891C>T	ENSP00000336721:p.Ser71Phe					LARP1_uc003lvo.2_Missense_Mutation_p.S71F|LARP1_uc010jie.1_5'UTR	p.S148F	NM_033551	NP_291029	Q6PKG0	LARP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		2	872	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	148					O94836|Q8N4M2|Q8NB73|Q9UFD7	Missense_Mutation	SNP	ENST00000336314.4	37	c.443C>T	CCDS4328.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.987626	0.74589	.	.	ENSG00000155506	ENST00000336314;ENST00000518297	T;T	0.43688	1.82;0.94	5.71	5.71	0.89125	.	0.286617	0.34386	N	0.004008	T	0.41488	0.1161	N	0.19112	0.55	0.49213	D	0.999762	P;P	0.47677	0.8;0.899	B;P	0.48141	0.365;0.568	T	0.37596	-0.9699	10	0.66056	D	0.02	-9.553	19.8677	0.96824	0.0:1.0:0.0:0.0	.	148;71	Q6PKG0;Q6PKG0-3	LARP1_HUMAN;.	F	71;148	ENSP00000336721:S71F;ENSP00000428589:S148F	ENSP00000336721:S71F	S	+	2	0	LARP1	154150084	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	6.663000	0.74431	2.709000	0.92574	0.655000	0.94253	TCT		0.547	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252509.1	NM_033551		47	72	0	0	0	0.01441	0	47	72				
RNF145	153830	broad.mit.edu	37	5	158595962	158595962	+	Missense_Mutation	SNP	A	A	C			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr5:158595962A>C	ENST00000424310.2	-	8	1399	c.1040T>G	c.(1039-1041)tTc>tGc	p.F347C	RNF145_ENST00000274542.2_Missense_Mutation_p.F375C|RNF145_ENST00000519865.1_Missense_Mutation_p.F347C|RNF145_ENST00000520638.1_Missense_Mutation_p.F361C|RNF145_ENST00000518802.1_Missense_Mutation_p.F377C|RNF145_ENST00000521606.2_Missense_Mutation_p.F364C	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145	347						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.F375C(1)		endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TACGACAATGAAAAGGATAAT	0.428																																							uc003lxp.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(1)|skin(1)	5						c.(1039-1041)TTC>TGC		ring finger protein 145							122.0	121.0	122.0					5																	158595962		2203	4300	6503	SO:0001583	missense	153830					integral to membrane	zinc ion binding	g.chr5:158595962A>C	BC042684	CCDS4344.1, CCDS56390.1, CCDS56391.1, CCDS56392.1, CCDS56393.1	5q33.3	2013-01-09			ENSG00000145860	ENSG00000145860		"""RING-type (C3HC4) zinc fingers"""	20853	protein-coding gene	gene with protein product							Standard	NM_001199380		Approved	FLJ31951	uc003lxo.2	Q96MT1	OTTHUMG00000130306	ENST00000424310.2:c.1040T>G	5.37:g.158595962A>C	ENSP00000409064:p.Phe347Cys					RNF145_uc011ddy.1_Missense_Mutation_p.F361C|RNF145_uc003lxo.1_Missense_Mutation_p.F375C|RNF145_uc011ddz.1_Missense_Mutation_p.F364C|RNF145_uc010jiq.1_Missense_Mutation_p.F377C	p.F347C	NM_144726	NP_653327	Q96MT1	RN145_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		8	1353	-	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	347			Helical; (Potential).		B7Z903|B7Z949|E7EVI7|Q8IVP7	Missense_Mutation	SNP	ENST00000424310.2	37	c.1040T>G	CCDS56390.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.983820	0.74474	.	.	ENSG00000145860	ENST00000274542;ENST00000519865;ENST00000424310;ENST00000521606;ENST00000413445;ENST00000518802;ENST00000535312;ENST00000520638	T;T;T;T;T;T;T	0.75938	-0.98;-0.96;-0.96;-0.97;-0.97;-0.97;-0.97	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	D	0.83617	0.5293	M	0.63843	1.955	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;0.999	T	0.83041	-0.0157	10	0.37606	T	0.19	-23.5365	15.1444	0.72637	1.0:0.0:0.0:0.0	.	364;361;377;347;375	B7Z949;B7Z903;E7EVI7;Q96MT1;Q96MT1-2	.;.;.;RN145_HUMAN;.	C	375;347;347;363;364;377;347;361	ENSP00000274542:F375C;ENSP00000430397:F347C;ENSP00000409064:F347C;ENSP00000430753:F363C;ENSP00000445115:F364C;ENSP00000430955:F377C;ENSP00000429071:F361C	ENSP00000274542:F375C	F	-	2	0	RNF145	158528540	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	9.287000	0.95975	2.035000	0.60131	0.477000	0.44152	TTC		0.428	RNF145-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374048.1	NM_144726		8	174	0	0	0	0.004482	0	8	174				
SLIT3	6586	broad.mit.edu	37	5	168135055	168135055	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr5:168135055G>T	ENST00000519560.1	-	26	3189	c.2770C>A	c.(2770-2772)Ccg>Acg	p.P924T	CTC-558O2.1_ENST00000522615.1_RNA|SLIT3_ENST00000404867.3_Missense_Mutation_p.P924T|CTC-558O2.1_ENST00000521870.1_RNA|SLIT3_ENST00000332966.8_Missense_Mutation_p.P931T	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	924	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)	p.P924T(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTCTTGCACGGGCTGGAGAGG	0.602																																					Ovarian(29;311 847 10864 17279 24903)	Ovarian(29;311 847 10864 17279 24903)	uc003mab.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(2770-2772)CCG>ACG		slit homolog 3 precursor							157.0	111.0	127.0					5																	168135055		2203	4300	6503	SO:0001583	missense	6586				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	g.chr5:168135055G>T	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.2770C>A	5.37:g.168135055G>T	ENSP00000430333:p.Pro924Thr					SLIT3_uc010jjg.2_Missense_Mutation_p.P931T	p.P924T	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		26	3190	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	924			EGF-like 1.		A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP	ENST00000519560.1	37	c.2770C>A	CCDS4369.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.949250	0.73787	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	D;D;D	0.87103	-2.21;-2.21;-2.21	4.94	4.94	0.65067	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.95114	0.8417	M	0.92604	3.325	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	D	0.96332	0.9244	10	0.87932	D	0	.	18.194	0.89815	0.0:0.0:1.0:0.0	.	924	O75094	SLIT3_HUMAN	T	924;931;924	ENSP00000430333:P924T;ENSP00000332164:P931T;ENSP00000384890:P924T	ENSP00000332164:P931T	P	-	1	0	SLIT3	168067633	1.000000	0.71417	0.296000	0.24974	0.591000	0.36615	9.869000	0.99810	2.296000	0.77279	0.585000	0.79938	CCG		0.602	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062		6	102	1	0	8.12818e-05	0.001984	8.97487e-05	6	102				
GFPT2	9945	broad.mit.edu	37	5	179734239	179734239	+	Silent	SNP	C	C	A	rs370718311		TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr5:179734239C>A	ENST00000253778.8	-	16	1780	c.1611G>T	c.(1609-1611)acG>acT	p.T537T		NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	537	SIS 2. {ECO:0000255|PROSITE- ProRule:PRU00797}.				carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glutamine metabolic process (GO:0006541)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)	p.T537T(1)		breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	GCGATCTCTGCGTGTAGAGCT	0.632																																							uc003mlw.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1609-1611)ACG>ACT		glutamine-fructose-6-phosphate transaminase 2	L-Glutamine(DB00130)						37.0	40.0	39.0					5																	179734239		2006	4172	6178	SO:0001819	synonymous_variant	9945				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding	g.chr5:179734239C>A	AB016789	CCDS43411.1	5q	2008-07-18			ENSG00000131459	ENSG00000131459			4242	protein-coding gene	gene with protein product	"""glutamine: fructose-6-phosphate aminotransferase 2"""	603865				10198162	Standard	NM_005110		Approved	GFAT2	uc003mlw.1	O94808	OTTHUMG00000163442	ENST00000253778.8:c.1611G>T	5.37:g.179734239C>A							p.T537T	NM_005110	NP_005101	O94808	GFPT2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		16	1709	-	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	537			SIS 2.		Q53XM2|Q9BWS4	Silent	SNP	ENST00000253778.8	37	c.1611G>T	CCDS43411.1																																																																																				0.632	GFPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373444.4	NM_005110		11	40	1	0	6.40141e-05	0.010729	7.12762e-05	11	40				
CNOT6	57472	broad.mit.edu	37	5	179976929	179976929	+	Splice_Site	SNP	A	A	G			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr5:179976929A>G	ENST00000393356.1	+	5	536		c.e5-1		CNOT6_ENST00000502447.1_Splice_Site|CNOT6_ENST00000261951.4_Splice_Site			Q9ULM6	CNOT6_HUMAN	CCR4-NOT transcription complex, subunit 6						exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|gene silencing by miRNA (GO:0035195)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of ligand-dependent nuclear receptor transcription coactivator activity (GO:2000327)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	exoribonuclease activity (GO:0004532)|metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)|RNA binding (GO:0003723)	p.?(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1)	23	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)		TTTCTCTTACAGGAAAAGTAA	0.343																																							uc003mlx.2		NA																	1	Unknown(1)		lung(1)		0						c.e3-2		CCR4-NOT transcription complex, subunit 6							110.0	111.0	110.0					5																	179976929		2203	4300	6503	SO:0001630	splice_region_variant	57472				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	exonuclease activity|metal ion binding|protein binding|RNA binding	g.chr5:179976929A>G	AB033020	CCDS4455.1	5q35.3	2014-06-17			ENSG00000113300	ENSG00000113300			14099	protein-coding gene	gene with protein product		608951				11889047	Standard	XM_005265953		Approved	CCR4, KIAA1194, Ccr4a	uc003mlx.3	Q9ULM6	OTTHUMG00000130935	ENST00000393356.1:c.113-1A>G	5.37:g.179976929A>G						CNOT6_uc010jld.2_Splice_Site_p.G38_splice|CNOT6_uc010jle.2_Splice_Site_p.G38_splice	p.G38_splice	NM_015455	NP_056270	Q9ULM6	CNOT6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)	3	462	+	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)						A7MD46|D3DWR0	Splice_Site	SNP	ENST00000393356.1	37	c.113_splice	CCDS4455.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.273707	0.80580	.	.	ENSG00000113300	ENST00000261951;ENST00000393356	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6231	0.76824	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CNOT6	179909535	1.000000	0.71417	0.990000	0.47175	0.954000	0.61252	9.210000	0.95106	2.102000	0.63906	0.377000	0.23210	.		0.343	CNOT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253532.1	NM_015455	Intron	105	170	0	0	0	0.01441	0	105	170				
OR2Y1	134083	broad.mit.edu	37	5	180167004	180167004	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr5:180167004C>G	ENST00000307832.2	-	1	95	c.55G>C	c.(55-57)Gat>Cat	p.D19H		NM_001001657.1	NP_001001657.1	Q8NGV0	OR2Y1_HUMAN	olfactory receptor, family 2, subfamily Y, member 1	19						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D19H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGCGGCCAATCTGAGAATCCC	0.458																																							uc003mmf.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(55-57)GAT>CAT		olfactory receptor, family 2, subfamily Y,							50.0	53.0	52.0					5																	180167004		2203	4300	6503	SO:0001583	missense	134083				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr5:180167004C>G	AB065676	CCDS34323.1	5q35	2012-08-09			ENSG00000174339	ENSG00000174339		"""GPCR / Class A : Olfactory receptors"""	14837	protein-coding gene	gene with protein product							Standard	NM_001001657		Approved		uc003mmf.1	Q8NGV0	OTTHUMG00000162237	ENST00000307832.2:c.55G>C	5.37:g.180167004C>G	ENSP00000312403:p.Asp19His						p.D19H	NM_001001657	NP_001001657	Q8NGV0	OR2Y1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		1	55	-	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	19			Extracellular (Potential).		B9EIP1|Q6IFB1|Q96R16	Missense_Mutation	SNP	ENST00000307832.2	37	c.55G>C	CCDS34323.1	.	.	.	.	.	.	.	.	.	.	c	12.33	1.904662	0.33628	.	.	ENSG00000174339	ENST00000307832	T	0.00327	8.09	4.41	4.41	0.53225	.	0.664954	0.13519	N	0.381822	T	0.00784	0.0026	M	0.73319	2.225	0.27977	N	0.936184	D	0.89917	1.0	D	0.91635	0.999	T	0.54139	-0.8338	10	0.72032	D	0.01	.	14.873	0.70474	0.0:1.0:0.0:0.0	.	19	Q8NGV0	OR2Y1_HUMAN	H	19	ENSP00000312403:D19H	ENSP00000312403:D19H	D	-	1	0	OR2Y1	180099610	0.000000	0.05858	0.779000	0.31741	0.006000	0.05464	0.327000	0.19663	2.432000	0.82394	0.511000	0.50034	GAT		0.458	OR2Y1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368059.2	XM_068682		6	104	0	0	0	0.004482	0	6	104				
NUP153	9972	broad.mit.edu	37	6	17624952	17624952	+	Silent	SNP	G	G	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr6:17624952G>A	ENST00000262077.2	-	20	4013	c.4014C>T	c.(4012-4014)ccC>ccT	p.P1338P	NUP153_ENST00000537253.1_Silent_p.P1369P	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	1338					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)|negative regulation of RNA export from nucleus (GO:0046832)|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 entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleocytoplasmic transporter activity (GO:0005487)|protein anchor (GO:0043495)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)	p.P1338P(1)		NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			CAAAGCCTGGGGGATTGGGCT	0.522																																							uc003ncd.1		NA																	1	Substitution - coding silent(1)		lung(1)	lung(4)|ovary(2)|breast(2)|skin(1)	9						c.(4012-4014)CCC>CCT		nucleoporin 153kDa							104.0	107.0	106.0					6																	17624952		2203	4300	6503	SO:0001819	synonymous_variant	9972				carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding	g.chr6:17624952G>A	Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789			8062	protein-coding gene	gene with protein product		603948	"""nucleoporin 153kD"""			8110839	Standard	NM_001278209		Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.4014C>T	6.37:g.17624952G>A						NUP153_uc011dje.1_Silent_p.P1369P|NUP153_uc010jpl.1_Silent_p.P1296P	p.P1338P	NM_005124	NP_005115	P49790	NU153_HUMAN	all cancers(50;0.0981)|Epithelial(50;0.112)		20	4214	-	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	1338					B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Silent	SNP	ENST00000262077.2	37	c.4014C>T	CCDS4541.1																																																																																				0.522	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039953.1			40	80	0	0	0	0.006999	0	40	80				
HIST1H1E	3008	broad.mit.edu	37	6	26156797	26156797	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr6:26156797C>A	ENST00000304218.3	+	1	239	c.179C>A	c.(178-180)gCc>gAc	p.A60D	HIST1H2BD_ENST00000289316.2_5'Flank|HIST1H2BD_ENST00000377777.4_5'Flank	NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	60	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)	p.A60D(1)		NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						GTATCTTTGGCCGCTCTCAAG	0.617																																							uc003ngq.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(178-180)GCC>GAC		histone cluster 1, H1e							30.0	33.0	32.0					6																	26156797		2203	4300	6503	SO:0001583	missense	3008				nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26156797C>A	M60748	CCDS4586.1	6p22.1	2012-05-04	2006-10-11	2003-02-21	ENSG00000168298	ENSG00000168298		"""Histones / Replication-dependent"""	4718	protein-coding gene	gene with protein product		142220	"""H1 histone family, member 4"", ""histone 1, H1e"""	H1F4		1916825, 12408966	Standard	NM_005321		Approved	H1.4, H1e, H1s-4	uc003ngq.3	P10412	OTTHUMG00000014422	ENST00000304218.3:c.179C>A	6.37:g.26156797C>A	ENSP00000307705:p.Ala60Asp					HIST1H2BD_uc003ngr.2_5'Flank|HIST1H2BD_uc003ngs.2_5'Flank	p.A60D	NM_005321	NP_005312	P10412	H14_HUMAN			1	239	+			60			H15.		Q4VB25	Missense_Mutation	SNP	ENST00000304218.3	37	c.179C>A	CCDS4586.1	.	.	.	.	.	.	.	.	.	.	.	23.0	4.366929	0.82463	.	.	ENSG00000168298	ENST00000304218	T	0.17054	2.3	5.11	5.11	0.69529	Histone H1/H5 (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.113504	0.64402	D	0.000015	T	0.50222	0.1603	H	0.95224	3.64	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.66767	-0.5840	10	0.87932	D	0	-4.1539	17.8759	0.88825	0.0:1.0:0.0:0.0	.	60	P10412	H14_HUMAN	D	60	ENSP00000307705:A60D	ENSP00000307705:A60D	A	+	2	0	HIST1H1E	26264776	1.000000	0.71417	0.586000	0.28679	0.744000	0.42396	7.711000	0.84669	2.542000	0.85734	0.561000	0.74099	GCC		0.617	HIST1H1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040084.1	NM_005321		11	45	1	0	1.08611e-07	0.010729	1.32635e-07	11	45				
BTN1A1	696	broad.mit.edu	37	6	26509306	26509306	+	Silent	SNP	C	C	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr6:26509306C>A	ENST00000244513.6	+	7	1551	c.1485C>A	c.(1483-1485)atC>atA	p.I495I		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	495						extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)	p.I495I(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						CTAAGGAGATCCCATTGTCCC	0.542																																							uc003nif.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1483-1485)ATC>ATA		butyrophilin, subfamily 1, member A1 precursor							94.0	96.0	95.0					6																	26509306		2203	4300	6503	SO:0001819	synonymous_variant	696					extracellular region|integral to plasma membrane	receptor activity	g.chr6:26509306C>A	U39576	CCDS4614.1	6p22.1	2014-01-14			ENSG00000124557	ENSG00000124557		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1135	protein-coding gene	gene with protein product		601610		BTN		8114113, 9382921	Standard	NM_001732		Approved	BT, BTN1	uc003nif.4	Q13410	OTTHUMG00000016358	ENST00000244513.6:c.1485C>A	6.37:g.26509306C>A							p.I495I	NM_001732	NP_001723	Q13410	BT1A1_HUMAN			7	1505	+			495			Cytoplasmic (Potential).		Q4VAN3|Q4VAN4|Q9H458	Silent	SNP	ENST00000244513.6	37	c.1485C>A	CCDS4614.1																																																																																				0.542	BTN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043776.1	NM_001732		21	155	1	0	3.5997e-14	0.014323	5.07404e-14	21	155				
CCHCR1	54535	broad.mit.edu	37	6	31113225	31113225	+	Splice_Site	SNP	C	C	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr6:31113225C>A	ENST00000376266.5	-	12	1594	c.1472G>T	c.(1471-1473)aGc>aTc	p.S491I	CCHCR1_ENST00000396268.3_Splice_Site_p.S580I|CCHCR1_ENST00000451521.2_Splice_Site_p.S544I|CCHCR1_ENST00000396263.2_Intron	NM_019052.3	NP_061925.2	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	491					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein export from nucleus (GO:0006611)	centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.S491I(1)|p.S580I(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						CAAACTTCACCTCTCCTGGCG	0.552																																							uc003nsr.3		NA																	2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(1471-1473)AGC>ATC		coiled-coil alpha-helical rod protein 1 isoform							90.0	94.0	92.0					6																	31113225		2203	4300	6503	SO:0001630	splice_region_variant	54535				cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding	g.chr6:31113225C>A	AF216493	CCDS4695.1, CCDS43445.1, CCDS47397.1	6p21.3	2007-08-01	2005-02-15	2005-02-16	ENSG00000204536	ENSG00000204536			13930	protein-coding gene	gene with protein product		605310	"""chromosome 6 open reading frame 18"""	C6orf18		10888604, 10545595	Standard	NM_019052		Approved	HCR	uc003nsp.4	Q8TD31	OTTHUMG00000031112	ENST00000376266.5:c.1472+1G>T	6.37:g.31113225C>A						CCHCR1_uc011dne.1_Missense_Mutation_p.S491I|CCHCR1_uc003nsq.3_Missense_Mutation_p.S544I|CCHCR1_uc003nsp.3_Missense_Mutation_p.S580I|CCHCR1_uc010jsk.1_Missense_Mutation_p.S491I	p.S491I	NM_019052	NP_061925	Q8TD31	CCHCR_HUMAN			12	1595	-			491					A2ABH6|E9PE84|Q2TB67|Q5SQ82|Q5STE9|Q9NRK8|Q9NWY9|Q9NXJ4|Q9NXK3|Q9Y6W1|Q9Y6W2	Missense_Mutation	SNP	ENST00000376266.5	37	c.1472G>T	CCDS4695.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.276594	0.59758	.	.	ENSG00000204536	ENST00000396268;ENST00000376266;ENST00000440185;ENST00000451521	T;T;T	0.03982	3.74;3.74;3.74	4.56	3.67	0.42095	.	0.742606	0.12204	N	0.490020	T	0.07503	0.0189	M	0.65975	2.015	0.31938	N	0.611262	D;D;D;D;D	0.67145	0.989;0.996;0.989;0.976;0.986	P;P;P;P;P	0.60068	0.868;0.852;0.757;0.739;0.775	T	0.10894	-1.0610	9	.	.	.	-3.3004	7.8705	0.29563	0.0:0.8853:0.0:0.1147	.	491;491;491;544;580	B4DIA2;A8K081;Q8TD31;E9PE84;Q8TD31-2	.;.;CCHCR_HUMAN;.;.	I	580;491;491;544	ENSP00000379566:S580I;ENSP00000365442:S491I;ENSP00000401039:S544I	.	S	-	2	0	CCHCR1	31221204	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	2.201000	0.42734	2.232000	0.73038	0.549000	0.68633	AGC		0.552	CCHCR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076190.5	NM_019052	Missense_Mutation	18	53	1	0	0.00278032	0.016522	0.00292375	18	53				
LSM2	57819	broad.mit.edu	37	6	31765615	31765615	+	Silent	SNP	G	G	A	rs372880853		TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr6:31765615G>A	ENST00000375661.5	-	5	433	c.207C>T	c.(205-207)taC>taT	p.Y69Y	LSM2_ENST00000491421.1_5'UTR|VARS_ENST00000444930.2_5'Flank|VARS_ENST00000375663.3_5'Flank	NM_021177.4	NP_067000.1	Q9Y333	LSM2_HUMAN	LSM2 homolog, U6 small nuclear RNA associated (S. cerevisiae)	69					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	poly(A) RNA binding (GO:0044822)|U6 snRNA binding (GO:0017070)	p.Y69Y(1)		large_intestine(1)|lung(1)	2						GCAGCTGCACGTATCGGACCA	0.502																																							uc003nxg.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(205-207)TAC>TAT		LSM2 homolog, U6 small nuclear RNA associated							232.0	245.0	240.0					6																	31765615		1511	2708	4219	SO:0001819	synonymous_variant	57819				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|cytosol|nucleoplasm	U6 snRNA binding	g.chr6:31765615G>A	AF182288	CCDS4722.1	6p21.3	2010-02-17	2003-02-17	2003-02-21	ENSG00000204392	ENSG00000204392			13940	protein-coding gene	gene with protein product		607282	"""chromosome 6 open reading frame 28"""	C6orf28		10523320, 8428774	Standard	NM_021177		Approved	G7b, YBL026W	uc003nxg.3	Q9Y333	OTTHUMG00000031121	ENST00000375661.5:c.207C>T	6.37:g.31765615G>A						VARS_uc003nxe.2_5'Flank|VARS_uc011doi.1_5'Flank	p.Y69Y	NM_021177	NP_067000	Q9Y333	LSM2_HUMAN			5	416	-			69					Q6FGG1	Silent	SNP	ENST00000375661.5	37	c.207C>T	CCDS4722.1																																																																																				0.502	LSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076205.2	NM_021177		34	321	0	0	0	0.015359	0	34	321				
IP6K3	117283	broad.mit.edu	37	6	33696019	33696019	+	Missense_Mutation	SNP	G	G	C	rs370358888		TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr6:33696019G>C	ENST00000293756.4	-	3	584	c.258C>G	c.(256-258)aaC>aaG	p.N86K	IP6K3_ENST00000451316.1_Missense_Mutation_p.N86K	NM_054111.4	NP_473452.2	Q96PC2	IP6K3_HUMAN	inositol hexakisphosphate kinase 3	86					inositol phosphate biosynthetic process (GO:0032958)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol metabolic process (GO:0046488)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol hexakisphosphate 6-kinase activity (GO:0000831)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)	p.N86K(1)		skin(1)	1						CCTTCACTGGGTTGGCAACCA	0.612																																							uc010jvf.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(256-258)AAC>AAG		inositol hexakisphosphate kinase 3		G	LYS/ASN,LYS/ASN	0,4406		0,0,2203	75.0	69.0	71.0		258,258	4.6	1.0	6		71	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	IP6K3	NM_001142883.1,NM_054111.4	94,94	0,1,6502	CC,CG,GG		0.0116,0.0,0.0077	benign,benign	86/411,86/411	33696019	1,13005	2203	4300	6503	SO:0001583	missense	117283				inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation	cytoplasm	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity	g.chr6:33696019G>C	AF393812	CCDS34435.1	6p21.31	2009-01-05	2009-01-05	2008-12-22	ENSG00000161896	ENSG00000161896			17269	protein-coding gene	gene with protein product		606993	"""inositol hexaphosphate kinase 3"""	IHPK3		11502751	Standard	NM_054111		Approved	INSP6K3	uc003ofb.2	Q96PC2	OTTHUMG00000014531	ENST00000293756.4:c.258C>G	6.37:g.33696019G>C	ENSP00000293756:p.Asn86Lys					IP6K3_uc003ofb.2_Missense_Mutation_p.N86K	p.N86K	NM_001142883	NP_001136355	Q96PC2	IP6K3_HUMAN			4	794	-			86					Q96MQ9	Missense_Mutation	SNP	ENST00000293756.4	37	c.258C>G	CCDS34435.1	.	.	.	.	.	.	.	.	.	.	G	15.26	2.781278	0.49891	0.0	1.16E-4	ENSG00000161896	ENST00000451316;ENST00000293756	T;T	0.61980	0.06;0.06	5.6	4.55	0.56014	.	0.428825	0.24126	N	0.041316	T	0.47930	0.1472	M	0.73962	2.25	0.42707	D	0.993633	B	0.28128	0.201	B	0.25140	0.058	T	0.50083	-0.8869	10	0.30078	T	0.28	-16.0396	13.3401	0.60540	0.0872:0.0:0.9128:0.0	.	86	Q96PC2	IP6K3_HUMAN	K	86	ENSP00000398861:N86K;ENSP00000293756:N86K	ENSP00000293756:N86K	N	-	3	2	IP6K3	33803997	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.031000	0.41117	2.644000	0.89710	0.655000	0.94253	AAC		0.612	IP6K3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040203.1	NM_054111		13	36	0	0	0	0.012319	0	13	36				
SLC35B2	347734	broad.mit.edu	37	6	44222605	44222605	+	Silent	SNP	G	G	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr6:44222605G>A	ENST00000393812.3	-	4	1280	c.1137C>T	c.(1135-1137)atC>atT	p.I379I	MIR4647_ENST00000583964.1_RNA|SLC35B2_ENST00000393810.1_3'UTR|SLC35B2_ENST00000538577.1_Silent_p.I286I|SLC35B2_ENST00000537814.1_Silent_p.I246I|SLC35B2_ENST00000495706.1_5'UTR	NM_178148.2	NP_835361.1	Q8TB61	S35B2_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2	379					3'-phospho-5'-adenylyl sulfate transmembrane transport (GO:1902559)|3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|3'-phosphoadenosine 5'-phosphosulfate transport (GO:0046963)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity (GO:0046964)|signal transducer activity (GO:0004871)	p.I379I(1)		breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AGGAAAGAAGGATGGCAAAGG	0.592																																							uc003oxd.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1135-1137)ATC>ATT		solute carrier family 35, member B2							72.0	67.0	69.0					6																	44222605		2203	4300	6503	SO:0001819	synonymous_variant	347734				positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity|signal transducer activity	g.chr6:44222605G>A	AK075456	CCDS34462.1, CCDS69127.1, CCDS75462.1, CCDS75463.1	6p12.1-p11.21	2013-07-17	2013-07-17		ENSG00000157593	ENSG00000157593		"""Solute carriers"""	16872	protein-coding gene	gene with protein product		610788	"""solute carrier family 35, member B2"""				Standard	NM_001286517		Approved	UGTrel4	uc003oxd.3	Q8TB61	OTTHUMG00000014760	ENST00000393812.3:c.1137C>T	6.37:g.44222605G>A						SLC35B2_uc011dvt.1_Silent_p.I282I|SLC35B2_uc011dvu.1_Silent_p.I246I	p.I379I	NM_178148	NP_835361	Q8TB61	S35B2_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		4	1273	-	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		379					B4DDU9|F5H7Y9|Q2VY06|Q53GA3|Q5T9W1|Q5T9W2|Q7Z2G3|Q8NBK6|Q96AR6	Silent	SNP	ENST00000393812.3	37	c.1137C>T	CCDS34462.1																																																																																				0.592	SLC35B2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040724.2			5	57	0	0	0	0.014758	0	5	57				
IL17A	3605	broad.mit.edu	37	6	52052599	52052599	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr6:52052599C>T	ENST00000340057.1	+	2	271	c.226C>T	c.(226-228)Ctc>Ttc	p.L76F		NM_002190.2	NP_002181.1	Q16552	IL17_HUMAN	interleukin 17A	76					apoptotic process (GO:0006915)|cell death (GO:0008219)|cell-cell signaling (GO:0007267)|cellular response to interleukin-1 (GO:0071347)|fibroblast activation (GO:0072537)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of interleukin-23 production (GO:0032747)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein glycosylation (GO:0006486)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)	p.L76F(1)		endometrium(3)|large_intestine(2)|lung(8)|prostate(3)|skin(1)	17	Lung NSC(77;0.116)					ACCTTGGAATCTCCAGTACGT	0.418																																							uc003pak.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(226-228)CTC>TTC		interleukin 17A precursor							118.0	108.0	112.0					6																	52052599		2203	4300	6503	SO:0001583	missense	3605				apoptosis|cell-cell signaling|fibroblast activation|immune response|inflammatory response|positive regulation of interleukin-23 production|positive regulation of osteoclast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein glycosylation	extracellular space	cytokine activity	g.chr6:52052599C>T	U32659	CCDS4937.1	6p12	2011-07-14	2006-04-26	2006-04-26	ENSG00000112115	ENSG00000112115		"""Interleukins and interleukin receptors"""	5981	protein-coding gene	gene with protein product	"""cytotoxic T-lymphocyte-associated protein 8"""	603149	"""interleukin 17 (cytotoxic T-lymphocyte-associated serine esterase 8)"""	CTLA8, IL17		8390535	Standard	NM_002190		Approved	IL-17A, IL-17	uc003pak.1	Q16552	OTTHUMG00000014840	ENST00000340057.1:c.226C>T	6.37:g.52052599C>T	ENSP00000344192:p.Leu76Phe						p.L76F	NM_002190	NP_002181	Q16552	IL17_HUMAN			2	271	+	Lung NSC(77;0.116)		76					Q5T2P0	Missense_Mutation	SNP	ENST00000340057.1	37	c.226C>T	CCDS4937.1	.	.	.	.	.	.	.	.	.	.	C	17.32	3.359564	0.61403	.	.	ENSG00000112115	ENST00000340057	T	0.56611	0.45	5.85	2.06	0.26882	.	0.432116	0.22539	N	0.058760	T	0.24431	0.0592	L	0.53249	1.67	0.09310	N	1	B	0.28208	0.203	B	0.32583	0.148	T	0.14476	-1.0471	10	0.51188	T	0.08	-25.4993	2.3504	0.04282	0.2256:0.4153:0.0:0.3591	.	76	Q16552	IL17_HUMAN	F	76	ENSP00000344192:L76F	ENSP00000344192:L76F	L	+	1	0	IL17A	52160558	0.893000	0.30496	0.932000	0.37286	0.951000	0.60555	1.084000	0.30828	1.225000	0.43566	0.650000	0.86243	CTC		0.418	IL17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040892.1	NM_002190		24	108	0	0	0	0.016522	0	24	108				
MDN1	23195	broad.mit.edu	37	6	90504317	90504317	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr6:90504317C>A	ENST00000369393.3	-	3	648	c.533G>T	c.(532-534)aGc>aTc	p.S178I	MDN1_ENST00000428876.1_Missense_Mutation_p.S178I			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	178					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)	p.S178I(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GGTGTCATGGCTTCTGAGGAG	0.547																																							uc003pnn.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|skin(2)	10						c.(532-534)AGC>ATC		MDN1, midasin homolog							117.0	96.0	103.0					6																	90504317		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90504317C>A	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.533G>T	6.37:g.90504317C>A	ENSP00000358400:p.Ser178Ile					MDN1_uc003pnp.1_Missense_Mutation_p.S178I	p.S178I	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	3	649	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	178					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.533G>T	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	C	16.86	3.238822	0.58995	.	.	ENSG00000112159	ENST00000369393;ENST00000428876;ENST00000439638	T;T;T	0.36157	1.27;1.27;1.27	5.23	5.23	0.72850	.	0.057671	0.64402	D	0.000002	T	0.32224	0.0822	L	0.51422	1.61	0.49483	D	0.999792	P;B	0.48503	0.911;0.374	P;B	0.46144	0.505;0.053	T	0.06481	-1.0824	10	0.48119	T	0.1	.	19.172	0.93581	0.0:1.0:0.0:0.0	.	178;178	Q6ZVV6;Q9NU22	.;MDN1_HUMAN	I	178	ENSP00000358400:S178I;ENSP00000413970:S178I;ENSP00000409664:S178I	ENSP00000358400:S178I	S	-	2	0	MDN1	90561038	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.234000	0.65343	2.614000	0.88457	0.557000	0.71058	AGC		0.547	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			35	46	1	0	1.69901e-12	0.005524	2.28547e-12	35	46				
EPHA7	2045	broad.mit.edu	37	6	93967241	93967241	+	Splice_Site	SNP	C	C	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr6:93967241C>A	ENST00000369303.4	-	12	2295	c.2111G>T	c.(2110-2112)gGg>gTg	p.G704V		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	704	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)	p.G704V(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		GACTGGTTTCCCTAAAATTAA	0.368																																							uc003poe.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(8)|ovary(7)|upper_aerodigestive_tract(3)|central_nervous_system(3)|skin(3)|large_intestine(2)|stomach(1)|pancreas(1)	28						c.(2110-2112)GGG>GTG		ephrin receptor EphA7 precursor							55.0	58.0	57.0					6																	93967241		2202	4299	6501	SO:0001630	splice_region_variant	2045					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr6:93967241C>A	L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3390	protein-coding gene	gene with protein product		602190	"""EphA7"""			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.2111-1G>T	6.37:g.93967241C>A						EPHA7_uc003pof.2_Missense_Mutation_p.G699V|EPHA7_uc011eac.1_Missense_Mutation_p.G700V	p.G704V	NM_004440	NP_004431	Q15375	EPHA7_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0847)	12	2352	-		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)	704			Cytoplasmic (Potential).|Protein kinase.		A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Missense_Mutation	SNP	ENST00000369303.4	37	c.2111G>T	CCDS5031.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.775577	0.90195	.	.	ENSG00000135333	ENST00000369303	T	0.64085	-0.08	5.87	5.87	0.94306	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.72661	0.3488	L	0.52126	1.63	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;1.0	T	0.72906	-0.4150	10	0.66056	D	0.02	.	20.2119	0.98289	0.0:1.0:0.0:0.0	.	700;699;704	Q15375-4;Q15375-2;Q15375	.;.;EPHA7_HUMAN	V	704	ENSP00000358309:G704V	ENSP00000358309:G704V	G	-	2	0	EPHA7	94023962	1.000000	0.71417	0.999000	0.59377	0.904000	0.53231	7.625000	0.83145	2.784000	0.95788	0.585000	0.79938	GGG		0.368	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1		Missense_Mutation	10	16	1	0	3.86212e-05	0.008291	4.3184e-05	10	16				
TAAR2	9287	broad.mit.edu	37	6	132938904	132938904	+	Nonsense_Mutation	SNP	G	G	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr6:132938904G>T	ENST00000367931.1	-	2	440	c.441C>A	c.(439-441)taC>taA	p.Y147*	TAAR2_ENST00000275191.2_Nonsense_Mutation_p.Y102*|TAAR2_ENST00000537809.1_Nonsense_Mutation_p.Y102*			Q9P1P5	TAAR2_HUMAN	trace amine associated receptor 2	147					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)	p.Y147*(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		AAAGTAATGGGTAACATATAG	0.368																																							uc003qdl.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(439-441)TAC>TAA		trace amine associated receptor 2 isoform 1							62.0	64.0	63.0					6																	132938904		2203	4300	6503	SO:0001587	stop_gained	9287					plasma membrane	G-protein coupled receptor activity	g.chr6:132938904G>T	AF112460	CCDS34541.1, CCDS5157.1	6q24	2012-08-08	2005-02-23	2005-02-24	ENSG00000146378	ENSG00000146378		"""GPCR / Class A : Trace amine associated receptors"""	4514	protein-coding gene	gene with protein product		604849	"""G protein-coupled receptor 58"""	GPR58		10684976, 15718104	Standard	NM_014626		Approved		uc003qdl.1	Q9P1P5	OTTHUMG00000015585	ENST00000367931.1:c.441C>A	6.37:g.132938904G>T	ENSP00000356908:p.Tyr147*					TAAR2_uc010kfr.1_Nonsense_Mutation_p.Y102*	p.Y147*	NM_001033080	NP_001028252	Q9P1P5	TAAR2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)	2	441	-	Breast(56;0.135)		147			Cytoplasmic (Potential).		Q5QD02|Q6NWS1|Q6NWS2|Q6NWS3	Nonsense_Mutation	SNP	ENST00000367931.1	37	c.441C>A	CCDS34541.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.849952	0.91277	.	.	ENSG00000146378	ENST00000275191;ENST00000367931;ENST00000537809	.	.	.	6.0	3.28	0.37604	.	0.753361	0.12920	N	0.428218	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-10.5762	10.8362	0.46688	0.2017:0.0:0.7983:0.0	.	.	.	.	X	102;147;102	.	ENSP00000275191:Y102X	Y	-	3	2	TAAR2	132980597	0.999000	0.42202	1.000000	0.80357	0.765000	0.43378	0.498000	0.22530	0.877000	0.35895	0.650000	0.86243	TAC		0.368	TAAR2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390735.1	NM_014626		26	58	1	0	9.39395e-14	0.00632	1.31021e-13	26	58				
FNDC1	84624	broad.mit.edu	37	6	159646637	159646637	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr6:159646637C>T	ENST00000297267.9	+	8	1155	c.955C>T	c.(955-957)Cgt>Tgt	p.R319C	FNDC1_ENST00000340366.6_Missense_Mutation_p.R319C|FNDC1_ENST00000480856.1_3'UTR	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	319	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R319C(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CGCTAACAGGCGTGTGCTGAT	0.468																																							uc010kjv.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(4)|ovary(3)|central_nervous_system(1)	8						c.(955-957)CGT>TGT		fibronectin type III domain containing 1							234.0	234.0	234.0					6																	159646637		1969	4166	6135	SO:0001583	missense	84624					extracellular region		g.chr6:159646637C>T	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.955C>T	6.37:g.159646637C>T	ENSP00000297267:p.Arg319Cys					FNDC1_uc010kjw.1_Missense_Mutation_p.R267C	p.R319C	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	8	1155	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	319			Fibronectin type-III 3.		A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	c.955C>T	CCDS47512.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.26|15.26	2.780282|2.780282	0.49891|0.49891	.|.	.|.	ENSG00000164694|ENSG00000164694	ENST00000329629|ENST00000297267;ENST00000340366	.|T;T	.|0.57907	.|0.37;0.37	5.84|5.84	4.89|4.89	0.63831|0.63831	.|Fibronectin, type III (4);Immunoglobulin-like fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.66771|0.66771	0.2823|0.2823	M|M	0.68317|0.68317	2.08|2.08	0.58432|0.58432	D|D	0.999995|0.999995	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;1.0	T|T	0.68754|0.68754	-0.5325|-0.5325	5|10	.|0.72032	.|D	.|0.01	-18.2714|-18.2714	17.6675|17.6675	0.88207|0.88207	0.1313:0.8687:0.0:0.0|0.1313:0.8687:0.0:0.0	.|.	.|319;319	.|Q4ZHG4-2;Q4ZHG4	.|.;FNDC1_HUMAN	V|C	277|319	.|ENSP00000297267:R319C;ENSP00000342460:R319C	.|ENSP00000297267:R319C	A|R	+|+	2|1	0|0	FNDC1|FNDC1	159566625|159566625	1.000000|1.000000	0.71417|0.71417	0.917000|0.917000	0.36280|0.36280	0.518000|0.518000	0.34316|0.34316	3.747000|3.747000	0.55134|0.55134	2.765000|2.765000	0.95021|0.95021	0.655000|0.655000	0.94253|0.94253	GCG|CGT		0.468	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		17	244	0	0	0	0.004007	0	17	244				
INTS1	26173	broad.mit.edu	37	7	1535817	1535817	+	Silent	SNP	G	G	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr7:1535817G>A	ENST00000404767.3	-	12	1771	c.1686C>T	c.(1684-1686)atC>atT	p.I562I	INTS1_ENST00000389470.4_Silent_p.I690I	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	562					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)		p.I690I(1)		autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		TGTCCCAGGCGATGCCGGCCT	0.657																																							uc003skn.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1684-1686)ATC>ATT		integrator complex subunit 1							83.0	98.0	93.0					7																	1535817		2113	4218	6331	SO:0001819	synonymous_variant	26173				snRNA processing	integral to membrane|integrator complex|nuclear membrane		g.chr7:1535817G>A	AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.1686C>T	7.37:g.1535817G>A						INTS1_uc003skp.1_5'Flank	p.I562I	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)	12	1787	-		Ovarian(82;0.0253)	562					A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Silent	SNP	ENST00000404767.3	37	c.1686C>T	CCDS47526.1																																																																																				0.657	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323683.1			11	105	0	0	0	0.004007	0	11	105				
ITGB8	3696	broad.mit.edu	37	7	20449248	20449248	+	Silent	SNP	C	C	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr7:20449248C>A	ENST00000222573.4	+	13	2718	c.2034C>A	c.(2032-2034)tcC>tcA	p.S678S	ITGB8_ENST00000537992.1_Silent_p.S543S	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	678					cartilage development (GO:0051216)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|ganglioside metabolic process (GO:0001573)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of gene expression (GO:0010629)|placenta blood vessel development (GO:0060674)|positive regulation of gene expression (GO:0010628)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	extracellular matrix protein binding (GO:1990430)|receptor activity (GO:0004872)	p.S678S(2)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						AATGTTTCTCCAGCCCAAGCT	0.303																																							uc003suu.2		NA																	2	Substitution - coding silent(2)		lung(2)	skin(3)	3						c.(2032-2034)TCC>TCA		integrin, beta 8 precursor							117.0	124.0	122.0					7																	20449248		2203	4297	6500	SO:0001819	synonymous_variant	3696				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity	g.chr7:20449248C>A		CCDS5370.1	7p15.3	2010-03-23			ENSG00000105855	ENSG00000105855		"""Integrins"""	6163	protein-coding gene	gene with protein product		604160					Standard	XM_005249751		Approved		uc003suu.3	P26012	OTTHUMG00000023594	ENST00000222573.4:c.2034C>A	7.37:g.20449248C>A						ITGB8_uc011jyh.1_Silent_p.S543S	p.S678S	NM_002214	NP_002205	P26012	ITB8_HUMAN			13	2739	+			678			Extracellular (Potential).		A4D133|B4DHD4	Silent	SNP	ENST00000222573.4	37	c.2034C>A	CCDS5370.1																																																																																				0.303	ITGB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059915.3	NM_002214		34	131	1	0	2.48696e-23	0.015359	3.85406e-23	34	131				
STK31	56164	broad.mit.edu	37	7	23809344	23809344	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr7:23809344G>T	ENST00000355870.3	+	13	1801	c.1682G>T	c.(1681-1683)aGt>aTt	p.S561I	STK31_ENST00000428484.1_Missense_Mutation_p.S538I|STK31_ENST00000354639.3_Missense_Mutation_p.S538I|STK31_ENST00000433467.2_Missense_Mutation_p.S561I|STK31_ENST00000405627.3_3'UTR	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	561						acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)	p.S561I(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						ACTGAGTCAAGTGTCTGCAAA	0.383																																							uc003sws.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|lung(2)|ovary(2)|stomach(2)	9						c.(1681-1683)AGT>ATT		serine/threonine kinase 31 isoform a							206.0	201.0	203.0					7																	23809344		2203	4300	6503	SO:0001583	missense	56164						ATP binding|nucleic acid binding|protein serine/threonine kinase activity	g.chr7:23809344G>T	AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"""Tudor domain containing"""	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.1682G>T	7.37:g.23809344G>T	ENSP00000348132:p.Ser561Ile					STK31_uc003swt.3_Missense_Mutation_p.S538I|STK31_uc011jze.1_Missense_Mutation_p.S561I|STK31_uc010kuq.2_Missense_Mutation_p.S538I	p.S561I	NM_031414	NP_113602	Q9BXU1	STK31_HUMAN			13	1749	+			561					B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Missense_Mutation	SNP	ENST00000355870.3	37	c.1682G>T	CCDS5386.1	.	.	.	.	.	.	.	.	.	.	G	14.83	2.653037	0.47362	.	.	ENSG00000196335	ENST00000355870;ENST00000433467;ENST00000354639;ENST00000428484	T;T;T;T	0.69561	-0.41;1.32;-0.41;-0.41	5.27	4.27	0.50696	.	0.627251	0.17897	N	0.158311	T	0.50257	0.1605	L	0.40543	1.245	0.27995	N	0.935502	B;B	0.28128	0.201;0.201	B;B	0.21546	0.035;0.035	T	0.37820	-0.9689	10	0.36615	T	0.2	-4.4816	4.0962	0.09991	0.3203:0.0:0.6797:0.0	.	561;561	B4DZ06;Q9BXU1	.;STK31_HUMAN	I	561;561;538;538	ENSP00000348132:S561I;ENSP00000411852:S561I;ENSP00000346660:S538I;ENSP00000406146:S538I	ENSP00000346660:S538I	S	+	2	0	STK31	23775869	0.991000	0.36638	1.000000	0.80357	0.985000	0.73830	1.969000	0.40510	2.477000	0.83638	0.655000	0.94253	AGT		0.383	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414		128	306	1	0	6.21504e-60	0.01441	1.1204e-59	128	306				
CACNA2D1	781	broad.mit.edu	37	7	81641517	81641517	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr7:81641517C>T	ENST00000356253.5	-	15	1570	c.1315G>A	c.(1315-1317)Gac>Aac	p.D439N	MIR1255B1_ENST00000454066.1_RNA|MIR1255B1_ENST00000439234.1_RNA|CACNA2D1_ENST00000464354.1_5'UTR|CACNA2D1_ENST00000356860.3_Missense_Mutation_p.D439N			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	439					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.D439N(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	TTAGCTTTGTCTCCTGCTAAA	0.378																																							uc003uhr.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(1)	6						c.(1315-1317)GAC>AAC		calcium channel, voltage-dependent, alpha	Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)						178.0	161.0	167.0					7																	81641517		2203	4300	6503	SO:0001583	missense	781					voltage-gated calcium channel complex	metal ion binding	g.chr7:81641517C>T	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	1399	protein-coding gene	gene with protein product		114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.1315G>A	7.37:g.81641517C>T	ENSP00000348589:p.Asp439Asn					uc003uhs.1_Intron	p.D439N	NM_000722	NP_000713	P54289	CA2D1_HUMAN			15	1571	-			439			Extracellular (Potential).		Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	ENST00000356253.5	37	c.1315G>A		.	.	.	.	.	.	.	.	.	.	C	15.32	2.799654	0.50208	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253	T;T	0.06933	3.25;3.24	5.41	5.41	0.78517	.	0.307408	0.40302	N	0.001129	T	0.06234	0.0161	N	0.14661	0.345	0.80722	D	1	B	0.06786	0.001	B	0.10450	0.005	T	0.30238	-0.9985	10	0.52906	T	0.07	-9.8534	12.4767	0.55819	0.0:0.9183:0.0:0.0817	.	439	P54289-2	.	N	439	ENSP00000349320:D439N;ENSP00000348589:D439N	ENSP00000284088:D439N	D	-	1	0	CACNA2D1	81479453	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.310000	0.43708	2.694000	0.91930	0.585000	0.79938	GAC		0.378	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding				30	89	0	0	0	0.010818	0	30	89				
PCLO	27445	broad.mit.edu	37	7	82579564	82579564	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr7:82579564G>A	ENST00000333891.9	-	6	10677	c.10340C>T	c.(10339-10341)aCg>aTg	p.T3447M	PCLO_ENST00000423517.2_Missense_Mutation_p.T3447M|PCLO_ENST00000437081.1_Missense_Mutation_p.T167M	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.T3447M(2)|p.T3378M(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTCGTCATCCGTTTGTACACC	0.433																																							uc003uhx.2		NA																	3	Substitution - Missense(3)		lung(3)	ovary(7)	7						c.(10339-10341)ACG>ATG		piccolo isoform 1							127.0	118.0	121.0					7																	82579564		1945	4152	6097	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82579564G>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.10340C>T	7.37:g.82579564G>A	ENSP00000334319:p.Thr3447Met					PCLO_uc003uhv.2_Missense_Mutation_p.T3447M|PCLO_uc010lec.2_Missense_Mutation_p.T412M	p.T3447M	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			6	10629	-			3378						Missense_Mutation	SNP	ENST00000333891.9	37	c.10340C>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.909839	0.52439	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517;ENST00000437081	T;T;T	0.52295	0.67;0.71;1.35	5.73	5.73	0.89815	.	.	.	.	.	T	0.70727	0.3257	M	0.75615	2.305	0.51767	D	0.999935	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.72982	0.959;0.979;0.979	T	0.72773	-0.4192	9	0.87932	D	0	.	19.8991	0.96978	0.0:0.0:1.0:0.0	.	3378;3447;3447	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	M	3378;3447;3447;167	ENSP00000334319:T3447M;ENSP00000388393:T3447M;ENSP00000393760:T167M	ENSP00000334319:T3447M	T	-	2	0	PCLO	82417500	1.000000	0.71417	0.251000	0.24312	0.908000	0.53690	6.471000	0.73562	2.708000	0.92522	0.655000	0.94253	ACG		0.433	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		24	89	0	0	0	0.004656	0	24	89				
MUC17	140453	broad.mit.edu	37	7	100675218	100675218	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr7:100675218C>T	ENST00000306151.4	+	3	585	c.521C>T	c.(520-522)gCc>gTc	p.A174V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	174	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)	p.A174V(1)		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)					AGTTTTGAGGCCTACACATCT	0.468																																							uc003uxp.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(520-522)GCC>GTC		mucin 17 precursor							196.0	184.0	188.0					7																	100675218		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100675218C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.521C>T	7.37:g.100675218C>T	ENSP00000302716:p.Ala174Val					MUC17_uc010lho.1_RNA	p.A174V	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	574	+	Lung NSC(181;0.136)|all_lung(186;0.182)		174			Extracellular (Potential).|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.521C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	0.862	-0.735064	0.03111	.	.	ENSG00000169876	ENST00000306151	T	0.02656	4.21	0.542	-1.08	0.09936	.	.	.	.	.	T	0.01387	0.0045	N	0.08118	0	0.09310	N	1	B	0.14438	0.01	B	0.04013	0.001	T	0.47058	-0.9146	8	0.29301	T	0.29	.	.	.	.	.	174	Q685J3	MUC17_HUMAN	V	174	ENSP00000302716:A174V	ENSP00000302716:A174V	A	+	2	0	MUC17	100461938	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.385000	0.07379	-1.226000	0.02574	0.196000	0.17591	GCC		0.468	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		24	319	0	0	0	0.016522	0	24	319				
EPHB6	2051	broad.mit.edu	37	7	142562293	142562293	+	Silent	SNP	G	G	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr7:142562293G>T	ENST00000392957.2	+	7	1522	c.735G>T	c.(733-735)acG>acT	p.T245T	EPHB6_ENST00000442129.1_Silent_p.T245T|EPHB6_ENST00000411471.2_Intron	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	245	Cys-rich.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)	p.T230T(1)		NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					TTCCAGAGACGCAGGCCAGTG	0.672																																							uc011kst.1		NA																	1	Substitution - coding silent(1)		lung(1)	lung(8)|large_intestine(4)|central_nervous_system(3)|stomach(1)|skin(1)|ovary(1)|pancreas(1)	19						c.(733-735)ACG>ACT		ephrin receptor EphB6 precursor							52.0	64.0	60.0					7																	142562293		2199	4291	6490	SO:0001819	synonymous_variant	2051					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:142562293G>T	D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3396	protein-coding gene	gene with protein product		602757	"""EphB6"""				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.735G>T	7.37:g.142562293G>T						EPHB6_uc011ksu.1_Silent_p.T245T|EPHB6_uc003wbs.2_5'UTR|EPHB6_uc003wbt.2_5'UTR|EPHB6_uc003wbu.2_5'UTR|EPHB6_uc003wbv.2_5'Flank	p.T245T	NM_004445	NP_004436	O15197	EPHB6_HUMAN			7	1522	+	Melanoma(164;0.059)		245			Extracellular (Potential).|Cys-rich.		A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Silent	SNP	ENST00000392957.2	37	c.735G>T	CCDS5873.2																																																																																				0.672	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1			60	101	1	0	1.3515e-34	0.01441	2.28119e-34	60	101				
TAS2R60	338398	broad.mit.edu	37	7	143140889	143140889	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr7:143140889G>T	ENST00000332690.1	+	1	344	c.344G>T	c.(343-345)aGt>aTt	p.S115I	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	115					sensory perception of bitter taste (GO:0050913)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.S115I(1)		breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					ACCTGGCTCAGTGTCTTCTAT	0.498																																							uc011ktg.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(6)	6						c.(343-345)AGT>ATT		taste receptor, type 2, member 60							191.0	170.0	177.0					7																	143140889		2203	4300	6503	SO:0001583	missense	338398				sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity	g.chr7:143140889G>T	AY114094	CCDS5885.1	7q35	2014-07-10			ENSG00000185899	ENSG00000185899		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	20639	protein-coding gene	gene with protein product		613968				12584440	Standard	NM_177437		Approved	T2R60	uc011ktg.2	P59551	OTTHUMG00000154891	ENST00000332690.1:c.344G>T	7.37:g.143140889G>T	ENSP00000327724:p.Ser115Ile					uc003wda.2_Intron	p.S115I	NM_177437	NP_803186	P59551	T2R60_HUMAN			1	344	+	Melanoma(164;0.172)		115			Cytoplasmic (Potential).		A4D2G8|Q645W8|Q7RTR7	Missense_Mutation	SNP	ENST00000332690.1	37	c.344G>T	CCDS5885.1	.	.	.	.	.	.	.	.	.	.	G	12.65	2.003097	0.35320	.	.	ENSG00000185899	ENST00000332690	T	0.52754	0.65	5.32	4.44	0.53790	.	0.438594	0.21974	U	0.066401	T	0.64789	0.2630	M	0.69523	2.12	0.23716	N	0.997037	D	0.89917	1.0	D	0.76071	0.987	T	0.57505	-0.7800	10	0.87932	D	0	.	9.9493	0.41630	0.0936:0.0:0.9064:0.0	.	115	P59551	T2R60_HUMAN	I	115	ENSP00000327724:S115I	ENSP00000327724:S115I	S	+	2	0	TAS2R60	142851011	0.660000	0.27420	0.009000	0.14445	0.113000	0.19764	4.034000	0.57289	1.245000	0.43885	0.655000	0.94253	AGT		0.498	TAS2R60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337541.1			53	311	1	0	2.17126e-26	0.01441	3.44541e-26	53	311				
CUL1	8454	broad.mit.edu	37	7	148463701	148463701	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr7:148463701C>T	ENST00000325222.4	+	8	1117	c.838C>T	c.(838-840)Cat>Tat	p.H280Y	CUL1_ENST00000602748.1_Missense_Mutation_p.H280Y|CUL1_ENST00000409469.1_Missense_Mutation_p.H280Y	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	280					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|SCF ubiquitin ligase complex (GO:0019005)		p.H280Y(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			GGTTTACCTTCATGAAAGCAC	0.373																																							uc010lpg.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(838-840)CAT>TAT		cullin 1							69.0	66.0	67.0					7																	148463701		2203	4300	6503	SO:0001583	missense	8454				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr7:148463701C>T	U58087	CCDS34772.1	7q36.1	2011-05-24			ENSG00000055130	ENSG00000055130			2551	protein-coding gene	gene with protein product		603134				8681378	Standard	NM_003592		Approved		uc003wey.3	Q13616	OTTHUMG00000152776	ENST00000325222.4:c.838C>T	7.37:g.148463701C>T	ENSP00000326804:p.His280Tyr					CUL1_uc003wey.2_Missense_Mutation_p.H280Y|CUL1_uc003wez.2_Missense_Mutation_p.H170Y	p.H280Y	NM_003592	NP_003583	Q13616	CUL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)		8	1364	+	Melanoma(164;0.15)		280					D3DWG3|O60719|Q08AL6|Q8IYW1	Missense_Mutation	SNP	ENST00000325222.4	37	c.838C>T	CCDS34772.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.684727	0.88639	.	.	ENSG00000055130	ENST00000409469;ENST00000325222;ENST00000543583;ENST00000433865	T;T	0.75050	-0.9;-0.9	4.81	4.81	0.61882	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.047275	0.85682	D	0.000000	D	0.90253	0.6952	H	0.95539	3.685	0.80722	D	1	D	0.67145	0.996	D	0.70487	0.969	D	0.93287	0.6665	10	0.72032	D	0.01	-25.2744	18.2561	0.90020	0.0:1.0:0.0:0.0	.	280	Q13616	CUL1_HUMAN	Y	280;280;238;207	ENSP00000387160:H280Y;ENSP00000326804:H280Y	ENSP00000326804:H280Y	H	+	1	0	CUL1	148094634	1.000000	0.71417	0.320000	0.25306	0.989000	0.77384	7.539000	0.82063	2.370000	0.80446	0.655000	0.94253	CAT		0.373	CUL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467785.1	NM_003592		10	108	0	0	0	0.006214	0	10	108				
PRKAG2	51422	broad.mit.edu	37	7	151478496	151478496	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr7:151478496C>A	ENST00000287878.4	-	3	712	c.208G>T	c.(208-210)Ggc>Tgc	p.G70C	PRKAG2_ENST00000461529.1_5'UTR|PRKAG2_ENST00000392801.2_Missense_Mutation_p.G26C	NM_016203.3	NP_057287.2	Q9UGJ0	AAKG2_HUMAN	protein kinase, AMP-activated, gamma 2 non-catalytic subunit	70					ATP biosynthetic process (GO:0006754)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|glycogen metabolic process (GO:0005977)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase activity (GO:0045860)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of fatty acid metabolic process (GO:0019217)|regulation of fatty acid oxidation (GO:0046320)|regulation of glucose import (GO:0046324)|regulation of glycolytic process (GO:0006110)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|phosphorylase kinase regulator activity (GO:0008607)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)	p.G70C(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)	Acetylsalicylic acid(DB00945)	GAGGGGCTGCCCGGGCCGAAG	0.627																																							uc003wkk.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)|kidney(1)	2						c.(208-210)GGC>TGC		AMP-activated protein kinase gamma2 subunit							14.0	14.0	14.0					7																	151478496		2199	4296	6495	SO:0001583	missense	51422				ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process	AMP-activated protein kinase complex|cytosol|nucleoplasm	ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding	g.chr7:151478496C>A	AF087875	CCDS5928.1, CCDS43683.1, CCDS47752.1	7q35-q36	2014-09-17			ENSG00000106617	ENSG00000106617			9386	protein-coding gene	gene with protein product	"""AMPK gamma2"""	602743				8557660, 8621499	Standard	NM_024429		Approved	AAKG, AAKG2, H91620p, WPWS, CMH6	uc003wkk.3	Q9UGJ0	OTTHUMG00000157324	ENST00000287878.4:c.208G>T	7.37:g.151478496C>A	ENSP00000287878:p.Gly70Cys					PRKAG2_uc003wkj.2_Missense_Mutation_p.G26C|PRKAG2_uc010lqe.1_RNA|PRKAG2_uc003wkm.1_Missense_Mutation_p.G70C	p.G70C	NM_016203	NP_057287	Q9UGJ0	AAKG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)	3	819	-	all_neural(206;0.187)	all_hematologic(28;0.0605)	70					Q53Y07|Q6NUI0|Q75MP4|Q9NUZ9|Q9UDN8|Q9ULX8	Missense_Mutation	SNP	ENST00000287878.4	37	c.208G>T	CCDS5928.1	.	.	.	.	.	.	.	.	.	.	C	16.87	3.242914	0.58995	.	.	ENSG00000106617	ENST00000287878;ENST00000392801	D;D	0.89810	-2.16;-2.57	4.95	4.07	0.47477	.	0.211890	0.39985	N	0.001213	D	0.90109	0.6910	L	0.29908	0.895	0.80722	D	1	D;P	0.89917	1.0;0.926	D;P	0.74348	0.983;0.456	D	0.90581	0.4529	10	0.72032	D	0.01	.	12.6519	0.56766	0.0:0.9195:0.0:0.0805	.	70;70	Q8NCK6;Q9UGJ0	.;AAKG2_HUMAN	C	70;26	ENSP00000287878:G70C;ENSP00000376549:G26C	ENSP00000287878:G70C	G	-	1	0	PRKAG2	151109429	0.984000	0.35163	0.997000	0.53966	0.643000	0.38383	2.614000	0.46359	1.071000	0.40834	0.563000	0.77884	GGC		0.627	PRKAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348440.2	NM_016203		7	14	1	0	0.000274275	0.004482	0.000294263	7	14				
DEFA6	1671	broad.mit.edu	37	8	6782358	6782358	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr8:6782358G>T	ENST00000297436.2	-	2	325	c.285C>A	c.(283-285)caC>caA	p.H95Q		NM_001926.3	NP_001917.1	Q01524	DEF6_HUMAN	defensin, alpha 6, Paneth cell-specific	95					antibacterial humoral response (GO:0019731)|defense response to fungus (GO:0050832)|innate immune response (GO:0045087)|killing of cells of other organism (GO:0031640)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)		p.H95Q(1)		lung(4)	4			STAD - Stomach adenocarcinoma(24;0.0322)	COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		AGCAGAATCTGTGGTTAATAC	0.433																																							uc003wqt.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(283-285)CAC>CAA		defensin, alpha 6 preproprotein							113.0	108.0	110.0					8																	6782358		2203	4300	6503	SO:0001583	missense	1671				defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space		g.chr8:6782358G>T	M98331	CCDS5960.1	8p23.1	2007-02-20			ENSG00000164822	ENSG00000164822		"""Defensins, alpha"""	2765	protein-coding gene	gene with protein product		600471				8417977	Standard	NM_001926		Approved	HD-6, DEF6	uc003wqt.3	Q01524	OTTHUMG00000149984	ENST00000297436.2:c.285C>A	8.37:g.6782358G>T	ENSP00000297436:p.His95Gln						p.H95Q	NM_001926	NP_001917	Q01524	DEF6_HUMAN	STAD - Stomach adenocarcinoma(24;0.0322)	COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)	2	326	-			95					Q6EZF9	Missense_Mutation	SNP	ENST00000297436.2	37	c.285C>A	CCDS5960.1	.	.	.	.	.	.	.	.	.	.	.	3.567	-0.088465	0.07097	.	.	ENSG00000164822	ENST00000297436	T	0.52057	0.68	2.02	-1.26	0.09376	Beta defensin/Neutrophil defensin (1);Mammalian defensins (2);	.	.	.	.	T	0.30854	0.0778	L	0.29908	0.895	0.09310	N	1	B	0.20052	0.041	B	0.27380	0.079	T	0.32613	-0.9900	9	0.56958	D	0.05	.	2.0754	0.03623	0.3428:0.0:0.4032:0.254	.	95	Q01524	DEF6_HUMAN	Q	95	ENSP00000297436:H95Q	ENSP00000297436:H95Q	H	-	3	2	DEFA6	6769768	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.066000	0.14489	-0.375000	0.07955	-0.351000	0.07748	CAC		0.433	DEFA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206739.1	NM_001926		7	50	1	0	0.00307968	0.00308	0.00322575	7	50				
SNTG1	54212	broad.mit.edu	37	8	51314846	51314846	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr8:51314846T>A	ENST00000522124.1	+	4	765	c.104T>A	c.(103-105)aTt>aAt	p.I35N	SNTG1_ENST00000518864.1_Missense_Mutation_p.I35N|SNTG1_ENST00000517473.1_Missense_Mutation_p.I35N|SNTG1_ENST00000276467.5_Missense_Mutation_p.I35N	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	35					cell communication (GO:0007154)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)|syntrophin complex (GO:0016013)	protein C-terminus binding (GO:0008022)	p.I35N(2)		NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				GCCAAAGACATTTTGATGATC	0.383																																							uc010lxy.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(5)	5						c.(103-105)ATT>AAT		syntrophin, gamma 1							212.0	208.0	210.0					8																	51314846		2203	4300	6503	SO:0001583	missense	54212				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding	g.chr8:51314846T>A	AJ003030	CCDS6147.1, CCDS75737.1	8q11-q12	2008-07-03				ENSG00000147481			13740	protein-coding gene	gene with protein product		608714				10747910	Standard	NM_018967		Approved	SYN4, G1SYN	uc003xqs.1	Q9NSN8		ENST00000522124.1:c.104T>A	8.37:g.51314846T>A	ENSP00000429842:p.Ile35Asn					SNTG1_uc003xqs.1_Missense_Mutation_p.I35N|SNTG1_uc010lxz.1_Missense_Mutation_p.I35N|SNTG1_uc011ldl.1_RNA	p.I35N	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN			5	475	+		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)	35					Q2M3Q0|Q9NY98	Missense_Mutation	SNP	ENST00000522124.1	37	c.104T>A	CCDS6147.1	.	.	.	.	.	.	.	.	.	.	T	15.86	2.957743	0.53400	.	.	ENSG00000147481	ENST00000518864;ENST00000522124;ENST00000517473;ENST00000523085;ENST00000276467	T;T;T;T	0.30182	1.54;1.54;2.29;2.29	4.96	4.96	0.65561	PDZ/DHR/GLGF (1);	0.112422	0.64402	D	0.000009	T	0.29976	0.0750	L	0.51422	1.61	0.58432	D	0.999998	P;B	0.37038	0.579;0.34	B;B	0.37091	0.221;0.241	T	0.05937	-1.0855	10	0.35671	T	0.21	.	13.8229	0.63333	0.0:0.0:0.0:1.0	.	35;35	Q9NSN8-2;Q9NSN8	.;SNTG1_HUMAN	N	35	ENSP00000429276:I35N;ENSP00000429842:I35N;ENSP00000431123:I35N;ENSP00000276467:I35N	ENSP00000276467:I35N	I	+	2	0	SNTG1	51477399	1.000000	0.71417	0.083000	0.20561	0.932000	0.56968	7.086000	0.76885	1.875000	0.54330	0.533000	0.62120	ATT		0.383	SNTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377964.1			38	196	0	0	0	0.006999	0	38	196				
PXDNL	137902	broad.mit.edu	37	8	52384748	52384748	+	Splice_Site	SNP	T	T	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr8:52384748T>A	ENST00000356297.4	-	8	911	c.811A>T	c.(811-813)Aac>Tac	p.N271Y	PXDNL_ENST00000543296.1_Splice_Site_p.N271Y	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	271	Ig-like C2-type 1.				hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.N271Y(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				AGTATTTACTTGTTGTGTATC	0.413																																							uc003xqu.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(811-813)AAC>TAC		peroxidasin homolog-like precursor							171.0	165.0	167.0					8																	52384748		1895	4110	6005	SO:0001630	splice_region_variant	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52384748T>A		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.812+1A>T	8.37:g.52384748T>A							p.N271Y	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN			8	912	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	271			Ig-like C2-type 1.		B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	c.811A>T	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	T	14.41	2.527750	0.44969	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.41758	0.99;0.99	3.98	3.98	0.46160	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.53786	0.1818	L	0.46819	1.47	0.36771	D	0.883827	D	0.63880	0.993	D	0.68483	0.958	T	0.62627	-0.6814	9	0.66056	D	0.02	.	10.8883	0.46981	0.0:0.0:0.0:1.0	.	271	A1KZ92	PXDNL_HUMAN	Y	271	ENSP00000348645:N271Y;ENSP00000444865:N271Y	ENSP00000348645:N271Y	N	-	1	0	PXDNL	52547301	1.000000	0.71417	0.939000	0.37840	0.108000	0.19459	6.488000	0.73637	1.464000	0.47987	0.477000	0.44152	AAC		0.413	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651	Missense_Mutation	53	71	0	0	0	0.01441	0	53	71				
PRDM14	63978	broad.mit.edu	37	8	70964340	70964340	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr8:70964340G>T	ENST00000276594.2	-	8	1889	c.1688C>A	c.(1687-1689)tCc>tAc	p.S563Y		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	563					cell fate specification (GO:0001708)|cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|germ cell development (GO:0007281)|germ-line stem cell maintenance (GO:0030718)|histone H3-R26 methylation (GO:0034972)|homeostasis of number of cells within a tissue (GO:0048873)|inner cell mass cell fate commitment (GO:0001827)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|regulation of DNA methylation (GO:0044030)|regulation of gene expression, epigenetic (GO:0040029)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)	p.S563Y(1)		NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			CTTCATGTGGGAGTAGAATGT	0.517																																					NSCLC(129;99 1813 5906 40656 46114)	NSCLC(129;99 1813 5906 40656 46114)	uc003xym.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1687-1689)TCC>TAC		PR domain containing 14							90.0	87.0	88.0					8																	70964340		2203	4300	6503	SO:0001583	missense	63978				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:70964340G>T	AF319458	CCDS6206.1	8q13.3	2013-01-08			ENSG00000147596	ENSG00000147596		"""Zinc fingers, C2H2-type"""	14001	protein-coding gene	gene with protein product		611781					Standard	NM_024504		Approved		uc003xym.3	Q9GZV8	OTTHUMG00000150495	ENST00000276594.2:c.1688C>A	8.37:g.70964340G>T	ENSP00000276594:p.Ser563Tyr						p.S563Y	NM_024504	NP_078780	Q9GZV8	PRD14_HUMAN	Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)		8	1890	-	Breast(64;0.193)		563			C2H2-type 6.		Q86UX9	Missense_Mutation	SNP	ENST00000276594.2	37	c.1688C>A	CCDS6206.1	.	.	.	.	.	.	.	.	.	.	G	0.302	-0.973531	0.02215	.	.	ENSG00000147596	ENST00000276594	T	0.54071	0.59	5.37	2.39	0.29439	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.587596	0.17678	N	0.165735	T	0.23572	0.0570	N	0.13299	0.325	0.09310	N	1	B	0.17667	0.023	B	0.15052	0.012	T	0.25187	-1.0139	10	0.02654	T	1	-6.8792	2.0429	0.03554	0.1396:0.393:0.2934:0.174	.	563	Q9GZV8	PRD14_HUMAN	Y	563	ENSP00000276594:S563Y	ENSP00000276594:S563Y	S	-	2	0	PRDM14	71126894	0.001000	0.12720	0.391000	0.26233	0.870000	0.49936	0.376000	0.20535	1.252000	0.44001	0.563000	0.77884	TCC		0.517	PRDM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318505.1			14	73	1	0	3.27435e-08	0.00245	4.05469e-08	14	73				
ZFHX4	79776	broad.mit.edu	37	8	77764127	77764127	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr8:77764127C>A	ENST00000521891.2	+	10	5418	c.4970C>A	c.(4969-4971)gCt>gAt	p.A1657D	ZFHX4_ENST00000050961.6_Missense_Mutation_p.A1612D|ZFHX4_ENST00000518282.1_Missense_Mutation_p.A1631D|ZFHX4_ENST00000455469.2_Missense_Mutation_p.A1612D	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1612	Gln-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.A1657D(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AGTTTAGCAGCTGTAAACAGC	0.468										HNSCC(33;0.089)																													uc003yav.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(4834-4836)GCT>GAT		zinc finger homeodomain 4							82.0	81.0	81.0					8																	77764127		1933	4133	6066	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77764127C>A		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.4970C>A	8.37:g.77764127C>A	ENSP00000430497:p.Ala1657Asp	HNSCC(33;0.089)				ZFHX4_uc003yau.1_Missense_Mutation_p.A1657D|ZFHX4_uc003yaw.1_Missense_Mutation_p.A1612D	p.A1612D	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	5222	+			1612					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.4835C>A	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	8.176	0.792694	0.16327	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.50001	0.76;0.81;0.78;0.78	4.41	4.41	0.53225	.	0.715045	0.11835	U	0.524813	T	0.41073	0.1143	L	0.36672	1.1	0.30992	N	0.721315	B;B;B	0.19817	0.023;0.039;0.039	B;B;B	0.23419	0.021;0.046;0.046	T	0.29305	-1.0016	10	0.12430	T	0.62	.	17.537	0.87834	0.0:1.0:0.0:0.0	.	1612;1612;1657	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	D	1657;1657;1612;1612;1631	ENSP00000430497:A1657D;ENSP00000399605:A1612D;ENSP00000050961:A1612D;ENSP00000430848:A1631D	ENSP00000050961:A1612D	A	+	2	0	ZFHX4	77926682	0.822000	0.29219	0.056000	0.19401	0.924000	0.55760	4.504000	0.60414	2.456000	0.83038	0.542000	0.68232	GCT		0.468	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		20	95	1	0	7.41877e-09	0.012319	9.27347e-09	20	95				
RUNX1T1	862	broad.mit.edu	37	8	92972678	92972678	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr8:92972678C>A	ENST00000523629.1	-	12	2061	c.1607G>T	c.(1606-1608)gGc>gTc	p.G536V	RUNX1T1_ENST00000436581.2_Missense_Mutation_p.G547V|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.G499V|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.G499V|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.G499V|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.G536V|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.G509V|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.G509V	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	536					fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G499V(1)|p.G536V(1)|p.G547V(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			GCAAAATGAGCCACAGTATCG	0.537																																							uc003yfd.2		NA																	3	Substitution - Missense(3)		lung(3)	lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1)	16						c.(1606-1608)GGC>GTC		acute myelogenous leukemia 1 translocation 1							85.0	76.0	79.0					8																	92972678		2203	4300	6503	SO:0001583	missense	862				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:92972678C>A	D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"""Zinc fingers, MYND-type"""	1535	protein-coding gene	gene with protein product		133435	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"""	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.1607G>T	8.37:g.92972678C>A	ENSP00000428543:p.Gly536Val					RUNX1T1_uc003yfc.1_Missense_Mutation_p.G509V|RUNX1T1_uc003yfe.1_Missense_Mutation_p.G499V|RUNX1T1_uc010mao.2_Missense_Mutation_p.G509V|RUNX1T1_uc011lgi.1_Missense_Mutation_p.G547V|uc010mam.2_5'Flank|RUNX1T1_uc010man.1_Missense_Mutation_p.G161V|RUNX1T1_uc003yfb.1_Missense_Mutation_p.G499V	p.G536V	NM_175634	NP_783552	Q06455	MTG8_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0141)		11	1691	-			536			MYND-type.		B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Missense_Mutation	SNP	ENST00000523629.1	37	c.1607G>T	CCDS6256.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.238553	0.79800	.	.	ENSG00000079102	ENST00000523629;ENST00000396218;ENST00000265814;ENST00000360348;ENST00000422361;ENST00000520724;ENST00000436581;ENST00000518844	T;T;T;T;T;T;T;T	0.39056	1.1;1.1;1.1;1.12;1.12;1.12;1.11;1.1	5.86	5.86	0.93980	Zinc finger, MYND-type (3);	0.000000	0.85682	D	0.000000	T	0.70237	0.3201	M	0.82716	2.605	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;0.999	T	0.73017	-0.4115	10	0.87932	D	0	-17.6815	20.1802	0.98196	0.0:1.0:0.0:0.0	.	547;499;536;509	E7EPN4;Q7Z4J5;Q06455;Q06455-2	.;.;MTG8_HUMAN;.	V	536;509;536;499;499;499;547;509	ENSP00000428543:G536V;ENSP00000379520:G509V;ENSP00000265814:G536V;ENSP00000353504:G499V;ENSP00000390137:G499V;ENSP00000428742:G499V;ENSP00000402257:G547V;ENSP00000430728:G509V	ENSP00000265814:G536V	G	-	2	0	RUNX1T1	93041854	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.777000	0.95525	0.655000	0.94253	GGC		0.537	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635		8	42	1	0	1.12685e-05	0.004482	1.28714e-05	8	42				
ZFPM2	23414	broad.mit.edu	37	8	106810978	106810978	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr8:106810978G>T	ENST00000407775.2	+	7	1016	c.766G>T	c.(766-768)Ggc>Tgc	p.G256C	RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.G124C|ZFPM2_ENST00000520492.1_Missense_Mutation_p.G124C|ZFPM2_ENST00000378472.4_5'UTR|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000524045.2_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	256					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.G256C(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CAAGTCCTGTGGCATCTGGTA	0.473																																							uc003ymd.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(1)	5						c.(766-768)GGC>TGC		zinc finger protein, multitype 2							94.0	89.0	91.0					8																	106810978		2012	4186	6198	SO:0001583	missense	23414				blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	g.chr8:106810978G>T	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.766G>T	8.37:g.106810978G>T	ENSP00000384179:p.Gly256Cys					ZFPM2_uc011lhs.1_5'UTR|uc003yme.1_5'Flank	p.G256C	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)		7	789	+			256			C2HC-type 1.		Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	ENST00000407775.2	37	c.766G>T	CCDS47908.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.040204	0.93630	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361	T;T;T	0.35421	1.31;1.31;1.31	6.06	6.06	0.98353	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.64349	0.2590	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.64360	-0.6426	10	0.87932	D	0	.	20.6397	0.99537	0.0:0.0:1.0:0.0	.	256	Q8WW38	FOG2_HUMAN	C	256;124;124	ENSP00000384179:G256C;ENSP00000430757:G124C;ENSP00000428720:G124C	ENSP00000384179:G256C	G	+	1	0	ZFPM2	106880154	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.880000	0.98712	0.650000	0.86243	GGC		0.473	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			23	37	1	0	5.35356e-11	0.016522	7.02323e-11	23	37				
CSMD3	114788	broad.mit.edu	37	8	114111054	114111054	+	Missense_Mutation	SNP	A	A	C			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr8:114111054A>C	ENST00000297405.5	-	5	1092	c.848T>G	c.(847-849)tTt>tGt	p.F283C	CSMD3_ENST00000343508.3_Missense_Mutation_p.F243C|CSMD3_ENST00000519485.1_5'UTR|CSMD3_ENST00000352409.3_Missense_Mutation_p.F283C|CSMD3_ENST00000455883.2_Missense_Mutation_p.F283C	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	283	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.F283C(1)|p.F243C(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AAAATCAGTAAATATGAGTGA	0.378										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																													uc003ynu.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(847-849)TTT>TGT		CUB and Sushi multiple domains 3 isoform 1							99.0	95.0	96.0					8																	114111054		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:114111054A>C	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.848T>G	8.37:g.114111054A>C	ENSP00000297405:p.Phe283Cys	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003ynt.2_Missense_Mutation_p.F243C|CSMD3_uc011lhx.1_Missense_Mutation_p.F283C|CSMD3_uc010mcx.1_Missense_Mutation_p.F283C	p.F283C	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			5	1007	-			283			Extracellular (Potential).|CUB 2.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.848T>G	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.557162	0.86231	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000455883;ENST00000352409	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.4	5.4	0.78164	CUB (5);	0.000000	0.64402	D	0.000001	T	0.79021	0.4376	H	0.98965	4.385	0.44129	D	0.99691	D;D;D;D	0.89917	0.973;1.0;1.0;0.999	P;D;D;D	0.91635	0.54;0.997;0.999;0.998	D	0.87540	0.2458	10	0.62326	D	0.03	.	15.7202	0.77705	1.0:0.0:0.0:0.0	.	283;283;283;243	Q7Z407-3;Q7Z407-4;Q7Z407;Q7Z407-2	.;.;CSMD3_HUMAN;.	C	243;283;283;283	ENSP00000345799:F243C;ENSP00000297405:F283C;ENSP00000412263:F283C;ENSP00000343124:F283C	ENSP00000297405:F283C	F	-	2	0	CSMD3	114180230	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.230000	0.95299	2.182000	0.69389	0.528000	0.53228	TTT		0.378	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		7	92	0	0	0	0.001984	0	7	92				
FAM91A1	157769	broad.mit.edu	37	8	124810464	124810464	+	Missense_Mutation	SNP	A	A	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr8:124810464A>T	ENST00000334705.7	+	16	1792	c.1546A>T	c.(1546-1548)Agc>Tgc	p.S516C	FAM91A1_ENST00000521166.1_Missense_Mutation_p.S516C	NM_144963.2	NP_659400	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	516								p.S516C(1)		breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			GCCTGTCAGCAGCTGCACCCC	0.463																																							uc003yqv.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1546-1548)AGC>TGC		hypothetical protein LOC157769							59.0	58.0	59.0					8																	124810464		1920	4119	6039	SO:0001583	missense	157769							g.chr8:124810464A>T	AK074370	CCDS6346.2	8q24.13	2005-10-04			ENSG00000176853	ENSG00000176853			26306	protein-coding gene	gene with protein product						12477932	Standard	XM_005250806		Approved	FLJ23790	uc003yqv.3	Q658Y4	OTTHUMG00000133021	ENST00000334705.7:c.1546A>T	8.37:g.124810464A>T	ENSP00000335082:p.Ser516Cys					FAM91A1_uc011lik.1_Missense_Mutation_p.S516C|FAM91A1_uc011lil.1_Missense_Mutation_p.S274C	p.S516C	NM_144963	NP_659400	Q658Y4	F91A1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00192)		16	1607	+	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		516					B6YY23|Q658T5|Q8TE89	Missense_Mutation	SNP	ENST00000334705.7	37	c.1546A>T	CCDS6346.2	.	.	.	.	.	.	.	.	.	.	A	24.3	4.519762	0.85495	.	.	ENSG00000176853	ENST00000521166;ENST00000334705	T;T	0.36157	1.27;1.27	5.57	5.57	0.84162	.	0.068560	0.85682	D	0.000000	T	0.60117	0.2244	M	0.71036	2.16	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.987;0.991	T	0.63107	-0.6711	10	0.62326	D	0.03	.	16.0287	0.80560	1.0:0.0:0.0:0.0	.	516;516	E7ER68;Q658Y4	.;F91A1_HUMAN	C	516	ENSP00000429491:S516C;ENSP00000335082:S516C	ENSP00000335082:S516C	S	+	1	0	FAM91A1	124879645	1.000000	0.71417	0.995000	0.50966	0.971000	0.66376	9.207000	0.95064	2.243000	0.73865	0.445000	0.29226	AGC		0.463	FAM91A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256607.1	NM_144963		21	106	0	0	0	0.012319	0	21	106				
FAM135B	51059	broad.mit.edu	37	8	139380184	139380184	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr8:139380184G>T	ENST00000395297.1	-	2	213	c.43C>A	c.(43-45)Cat>Aat	p.H15N		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	15								p.H15N(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TAAAATTTATGTAGCTCTACC	0.363										HNSCC(54;0.14)																													uc003yuy.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(2)	9						c.(43-45)CAT>AAT		hypothetical protein LOC51059							151.0	144.0	146.0					8																	139380184		1864	4105	5969	SO:0001583	missense	51059							g.chr8:139380184G>T	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.43C>A	8.37:g.139380184G>T	ENSP00000378710:p.His15Asn	HNSCC(54;0.14)				FAM135B_uc003yux.2_5'UTR|FAM135B_uc003yuz.2_RNA	p.H15N	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		2	214	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		15					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.43C>A	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	G	22.5	4.296974	0.81025	.	.	ENSG00000147724	ENST00000395297;ENST00000160713;ENST00000520380	T	0.15834	2.39	5.54	5.54	0.83059	.	0.000000	0.56097	U	0.000027	T	0.36386	0.0965	L	0.58428	1.81	0.54753	D	0.999983	D	0.76494	0.999	D	0.83275	0.996	T	0.04029	-1.0983	10	0.08837	T	0.75	-2.5634	18.3941	0.90493	0.0:0.0:1.0:0.0	.	15	Q49AJ0	F135B_HUMAN	N	15	ENSP00000378710:H15N	ENSP00000160713:H15N	H	-	1	0	FAM135B	139449366	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.084000	0.94076	2.768000	0.95171	0.561000	0.74099	CAT		0.363	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		86	160	1	0	2.48941e-46	0.01441	4.45739e-46	86	160				
PLEC	5339	broad.mit.edu	37	8	144993918	144993918	+	Silent	SNP	G	G	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr8:144993918G>A	ENST00000322810.4	-	32	10651	c.10482C>T	c.(10480-10482)ctC>ctT	p.L3494L	PLEC_ENST00000436759.2_Silent_p.L3384L|PLEC_ENST00000345136.3_Silent_p.L3357L|PLEC_ENST00000356346.3_Silent_p.L3343L|PLEC_ENST00000398774.2_Silent_p.L3325L|PLEC_ENST00000357649.2_Silent_p.L3361L|PLEC_ENST00000527096.1_Silent_p.L3380L|PLEC_ENST00000354589.3_Silent_p.L3357L|PLEC_ENST00000354958.2_Silent_p.L3335L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3494	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)	p.L3384L(1)|p.L3357L(1)|p.L3494L(1)		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						AGATGCCGGCGAGGCAGCCAC	0.657																																							uc003zaf.1		NA																	3	Substitution - coding silent(3)		lung(3)	large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(10480-10482)CTC>CTT		plectin isoform 1							24.0	28.0	26.0					8																	144993918		2084	4181	6265	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.chr8:144993918G>A	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.10482C>T	8.37:g.144993918G>A						PLEC_uc003zab.1_Silent_p.L3357L|PLEC_uc003zac.1_Silent_p.L3361L|PLEC_uc003zad.2_Silent_p.L3357L|PLEC_uc003zae.1_Silent_p.L3325L|PLEC_uc003zag.1_Silent_p.L3335L|PLEC_uc003zah.2_Silent_p.L3343L|PLEC_uc003zaj.2_Silent_p.L3384L	p.L3494L	NM_201380	NP_958782	Q15149	PLEC_HUMAN			32	10652	-			3494			Plectin 12.|Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	c.10482C>T	CCDS43772.1																																																																																				0.657	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		16	23	0	0	0	0.006122	0	16	23				
IFNA8	3445	broad.mit.edu	37	9	21409376	21409376	+	Silent	SNP	T	T	C			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr9:21409376T>C	ENST00000380205.1	+	1	231	c.201T>C	c.(199-201)gaT>gaC	p.D67D		NM_002170.3	NP_002161.2	P32881	IFNA8_HUMAN	interferon, alpha 8	67					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine receptor binding (GO:0005126)|type I interferon receptor binding (GO:0005132)	p.D67D(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	9				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0174)		AGGAGTTTGATGATAAACAGT	0.493																																							uc003zpc.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(199-201)GAT>GAC		interferon, alpha 8 precursor							93.0	91.0	92.0					9																	21409376		2203	4300	6503	SO:0001819	synonymous_variant	3445				blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding	g.chr9:21409376T>C		CCDS6507.1	9p22	2010-08-24			ENSG00000120242	ENSG00000120242		"""Interferons"""	5429	protein-coding gene	gene with protein product	"""interferon alpha-B''"", ""interferon alpha type 201"""	147568				1385305	Standard	NM_002170		Approved	IFN-alphaB	uc003zpc.1	P32881	OTTHUMG00000019677	ENST00000380205.1:c.201T>C	9.37:g.21409376T>C							p.D67D	NM_002170	NP_002161	P32881	IFNA8_HUMAN		Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0174)	1	231	+			67					P01565|P09236|Q5VWV7|Q5VYQ3	Silent	SNP	ENST00000380205.1	37	c.201T>C	CCDS6507.1																																																																																				0.493	IFNA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051906.1	NM_002170		40	84	0	0	0	0.007835	0	40	84				
CDKN2A	1029	broad.mit.edu	37	9	21971140	21971140	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr9:21971140G>T	ENST00000304494.5	-	2	488	c.218C>A	c.(217-219)gCc>gAc	p.A73D	CDKN2A_ENST00000361570.3_Silent_p.R128R|CDKN2A_ENST00000446177.1_Missense_Mutation_p.A73D|CDKN2A_ENST00000578845.2_Missense_Mutation_p.A22D|CDKN2A_ENST00000498124.1_Missense_Mutation_p.A73D|CDKN2A_ENST00000498628.2_Missense_Mutation_p.A22D|CDKN2A_ENST00000530628.2_Silent_p.R87R|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000497750.1_Missense_Mutation_p.A22D|CDKN2A_ENST00000579122.1_Missense_Mutation_p.A73D|CDKN2A_ENST00000579755.1_Silent_p.R87R|CDKN2A_ENST00000479692.2_Missense_Mutation_p.A22D|CDKN2A_ENST00000494262.1_Missense_Mutation_p.A22D	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	73					cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(44)|p.A73D(2)|p.A73G(1)|p.E61_L94del(1)|p.0(1)|p.V59fs*45(1)|p.L65fs*38(1)|p.A68fs*3(1)|p.R128R(1)|p.C72fs*71(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GGCGGGGTCGGCGCAGTTGGG	0.711		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																													uc003zpk.2		17																	1369	Whole gene deletion(1316)|Unknown(44)|Deletion - Frameshift(4)|Substitution - Missense(3)|Deletion - In frame(1)|Substitution - coding silent(1)	p.0?(1112)|p.?(13)|p.A73G(1)|p.A73A(1)|p.L65fs*38(1)|p.A73T(1)|p.V59fs*45(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.A73P(1)|p.A73S(1)|p.C72fs*71(1)	haematopoietic_and_lymphoid_tissue(284)|skin(174)|central_nervous_system(167)|lung(148)|urinary_tract(91)|bone(74)|soft_tissue(57)|oesophagus(55)|pleura(51)|upper_aerodigestive_tract(49)|ovary(36)|kidney(32)|breast(32)|pancreas(30)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678						c.(217-219)GCC>GAC		cyclin-dependent kinase inhibitor 2A isoform 1							8.0	11.0	10.0					9																	21971140		2165	4238	6403	SO:0001583	missense	1029	Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma			cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	g.chr9:21971140G>T	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.218C>A	9.37:g.21971140G>T	ENSP00000307101:p.Ala73Asp	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Silent_p.R128R	p.A73D	NM_000077	NP_000068	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	430	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	73					A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Missense_Mutation	SNP	ENST00000304494.5	37	c.218C>A	CCDS6510.1	.	.	.	.	.	.	.	.	.	.	G	17.10	3.303647	0.60305	.	.	ENSG00000147889	ENST00000304494;ENST00000446177	T;T	0.80566	-1.39;-1.39	5.79	2.91	0.33838	Ankyrin repeat-containing domain (4);	.	.	.	.	T	0.72661	0.3488	.	.	.	0.22489	N	0.999053	D	0.53619	0.961	P	0.45712	0.491	T	0.58994	-0.7537	8	0.25751	T	0.34	-2.3571	7.1543	0.25628	0.1493:0.0:0.7071:0.1437	.	73	P42771	CD2A1_HUMAN	D	73	ENSP00000307101:A73D;ENSP00000394932:A73D	ENSP00000307101:A73D	A	-	2	0	CDKN2A	21961140	0.914000	0.31030	0.510000	0.27712	0.822000	0.46500	2.425000	0.44723	0.339000	0.23719	0.555000	0.69702	GCC		0.711	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		6	8	1	0	3.59834e-05	0.001168	4.0577e-05	6	8				
ALDH1B1	219	broad.mit.edu	37	9	38395944	38395945	+	Missense_Mutation	DNP	CA	CA	TT			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	CA	CA	-	-	CA	CA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr9:38395944_38395945CA>TT	ENST00000377698.3	+	2	352_353	c.199_200CA>TT	c.(199-201)CAc>TTc	p.H67F		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	67					carbohydrate metabolic process (GO:0005975)|ethanol catabolic process (GO:0006068)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aldehyde dehydrogenase (NAD) activity (GO:0004029)	p.H67F(1)		NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)		GGTCATTGGGCACGTGGCTGAA	0.609																																							uc004aay.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(199-201)CAC>TTC		aldehyde dehydrogenase 1B1 precursor	NADH(DB00157)																																			SO:0001583	missense	219				carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity	g.chr9:38395944_38395945CA>TT	M63967	CCDS6615.1	9p13	2008-02-05			ENSG00000137124	ENSG00000137124	1.2.1.3	"""Aldehyde dehydrogenases"""	407	protein-coding gene	gene with protein product		100670		ALDH5		2061311	Standard	NM_000692		Approved	ALDHX	uc004aay.3	P30837	OTTHUMG00000019938	Exception_encountered	9.37:g.38395944_38395945delinsTT	ENSP00000366927:p.His67Phe						p.H67F	NM_000692	NP_000683	P30837	AL1B1_HUMAN		GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	2	311_312	+			67					B2R8F0|Q8WX76|Q9BV45	Missense_Mutation	DNP	ENST00000377698.3	37	c.199_200CA>TT	CCDS6615.1																																																																																				0.609	ALDH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052492.1			21	96	0	0	0	0.004672	0	21	96				
TRPM6	140803	broad.mit.edu	37	9	77377632	77377632	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr9:77377632T>A	ENST00000360774.1	-	26	4192	c.3955A>T	c.(3955-3957)Agg>Tgg	p.R1319W	TRPM6_ENST00000361255.3_Missense_Mutation_p.R1314W|TRPM6_ENST00000451710.3_Missense_Mutation_p.R1319W|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.R1319W|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000449912.2_Missense_Mutation_p.R1314W	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1319					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.R1319W(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GTTTCTTGCCTTTCCTGGTCA	0.478																																							uc004ajl.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8						c.(3955-3957)AGG>TGG		transient receptor potential cation channel,							190.0	201.0	197.0					9																	77377632		2203	4300	6503	SO:0001583	missense	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77377632T>A	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.3955A>T	9.37:g.77377632T>A	ENSP00000354006:p.Arg1319Trp					TRPM6_uc004ajk.1_Missense_Mutation_p.R1314W|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Missense_Mutation_p.R275W	p.R1319W	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN			26	4193	-			1319			Cytoplasmic (Potential).		Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	c.3955A>T	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	T	12.63	1.994133	0.35226	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	T;T;T;T;T	0.55588	0.61;0.61;0.61;0.61;0.51	5.8	-1.49	0.08718	.	1.333750	0.04419	N	0.367323	T	0.34774	0.0909	N	0.08118	0	0.09310	N	1	P;D;P	0.53885	0.923;0.963;0.954	B;P;B	0.45276	0.221;0.475;0.394	T	0.35301	-0.9794	10	0.62326	D	0.03	.	6.5379	0.22365	0.0:0.4183:0.2219:0.3597	.	1319;1314;1314	Q9BX84;Q9BX84-3;Q9BX84-2	TRPM6_HUMAN;.;.	W	1319;1319;1314;1314;1319;982;982	ENSP00000354006:R1319W;ENSP00000407341:R1319W;ENSP00000396672:R1314W;ENSP00000354962:R1314W;ENSP00000366060:R1319W	ENSP00000309693:R982W	R	-	1	2	TRPM6	76567452	0.000000	0.05858	0.095000	0.20976	0.088000	0.18126	-0.291000	0.08343	0.047000	0.15862	-0.242000	0.12053	AGG		0.478	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		26	211	0	0	0	0.004656	0	26	211				
PRUNE2	158471	broad.mit.edu	37	9	79461573	79461573	+	Silent	SNP	T	T	C			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr9:79461573T>C	ENST00000376718.3	-	4	489	c.366A>G	c.(364-366)tcA>tcG	p.S122S	PRUNE2_ENST00000428286.1_5'UTR|PRUNE2_ENST00000376713.3_Silent_p.S122S	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	122					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)	p.S122S(2)		endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TGACAACTGCTGATTCTAAAG	0.428																																							uc010mpk.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(364-366)TCA>TCG		prune homolog 2							96.0	97.0	97.0					9																	79461573		2203	4300	6503	SO:0001819	synonymous_variant	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79461573T>C	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.366A>G	9.37:g.79461573T>C						PRUNE2_uc004akn.2_Silent_p.S122S	p.S122S	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN			4	490	-			122					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Silent	SNP	ENST00000376718.3	37	c.366A>G	CCDS47982.1																																																																																				0.428	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		7	72	0	0	0	0.00308	0	7	72				
PRUNE2	158471	broad.mit.edu	37	9	79461594	79461594	+	Splice_Site	SNP	A	A	G			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr9:79461594A>G	ENST00000376718.3	-	4	468	c.345T>C	c.(343-345)agT>agC	p.S115S	PRUNE2_ENST00000428286.1_5'UTR|PRUNE2_ENST00000376713.3_Splice_Site_p.S115S	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	115					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)	p.S115S(2)		endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TTTTGTCTTCACTGTAAAGCA	0.433																																							uc010mpk.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(343-345)AGT>AGC		prune homolog 2							84.0	85.0	85.0					9																	79461594		2203	4300	6503	SO:0001630	splice_region_variant	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79461594A>G	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.345-1T>C	9.37:g.79461594A>G						PRUNE2_uc004akn.2_Silent_p.S115S	p.S115S	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN			4	469	-			115					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Silent	SNP	ENST00000376718.3	37	c.345T>C	CCDS47982.1																																																																																				0.433	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818	Silent	5	72	0	0	0	0.00308	0	5	72				
FGD3	89846	broad.mit.edu	37	9	95773546	95773546	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr9:95773546C>T	ENST00000375482.3	+	8	1523	c.1027C>T	c.(1027-1029)Cgg>Tgg	p.R343W	FGD3_ENST00000416701.2_Missense_Mutation_p.R343W|FGD3_ENST00000337352.6_Missense_Mutation_p.R343W	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	343					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)	p.R343W(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						TGCTGCCATTCGGAAAGTGGT	0.627																																							uc004asw.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|breast(1)	2						c.(1027-1029)CGG>TGG		FYVE, RhoGEF and PH domain containing 3							65.0	73.0	70.0					9																	95773546		2107	4251	6358	SO:0001583	missense	89846				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr9:95773546C>T	AK000004	CCDS43849.1, CCDS69619.1	9q22	2013-01-10	2004-08-24		ENSG00000127084	ENSG00000127084		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	16027	protein-coding gene	gene with protein product			"""FGD1 family, member 3"""			11214971	Standard	NM_001083536		Approved	FLJ00004, ZFYVE5	uc004asz.2	Q5JSP0	OTTHUMG00000021032	ENST00000375482.3:c.1027C>T	9.37:g.95773546C>T	ENSP00000364631:p.Arg343Trp					FGD3_uc004asx.2_Missense_Mutation_p.R343W|FGD3_uc004asz.2_Missense_Mutation_p.R343W|FGD3_uc004ata.2_Missense_Mutation_p.R146W	p.R343W	NM_001083536	NP_001077005	Q5JSP0	FGD3_HUMAN			8	1655	+			343					F8W7P2|Q4VX84|Q7Z7D9|Q8N5G1	Missense_Mutation	SNP	ENST00000375482.3	37	c.1027C>T	CCDS43849.1	.	.	.	.	.	.	.	.	.	.	c	15.23	2.772550	0.49680	.	.	ENSG00000127084	ENST00000375482;ENST00000416701;ENST00000337352	D;D;D	0.88664	-2.41;-2.41;-2.41	4.08	1.92	0.25849	Dbl homology (DH) domain (2);	0.000000	0.31542	N	0.007479	D	0.91016	0.7174	L	0.57536	1.79	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.988;0.999;0.973	D	0.88110	0.2825	10	0.87932	D	0	.	5.6721	0.17728	0.4325:0.4697:0.0:0.0978	.	343;343;343	Q5JSP0-2;F8W7P2;Q5JSP0	.;.;FGD3_HUMAN	W	343	ENSP00000364631:R343W;ENSP00000413833:R343W;ENSP00000336914:R343W	ENSP00000336914:R343W	R	+	1	2	FGD3	94813367	0.997000	0.39634	0.975000	0.42487	0.634000	0.38068	1.866000	0.39489	0.151000	0.19162	0.462000	0.41574	CGG		0.627	FGD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055493.1	NM_033086		16	38	0	0	0	0.014323	0	16	38				
SVEP1	79987	broad.mit.edu	37	9	113194879	113194879	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr9:113194879C>A	ENST00000401783.2	-	31	5432	c.5096G>T	c.(5095-5097)gGc>gTc	p.G1699V	SVEP1_ENST00000374469.1_Missense_Mutation_p.G1676V	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1699	Sushi 6. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)	p.G1702V(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TGAATGGAAGCCATTCTCCAA	0.453																																							uc010mtz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(7)	7						c.(5095-5097)GGC>GTC		polydom							126.0	124.0	124.0					9																	113194879		1959	4145	6104	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113194879C>A	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.5096G>T	9.37:g.113194879C>A	ENSP00000384917:p.Gly1699Val						p.G1699V	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN			31	5433	-			1699			Sushi 6.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.5096G>T	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.993751	0.93167	.	.	ENSG00000165124	ENST00000401783;ENST00000374469	T;T	0.56611	0.45;0.45	5.81	5.81	0.92471	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	T	0.79405	0.4440	M	0.90595	3.13	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81724	-0.0802	10	0.56958	D	0.05	.	20.0826	0.97783	0.0:1.0:0.0:0.0	.	1699	Q4LDE5	SVEP1_HUMAN	V	1699;1676	ENSP00000384917:G1699V;ENSP00000363593:G1676V	ENSP00000363593:G1676V	G	-	2	0	SVEP1	112234700	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	7.486000	0.81215	2.746000	0.94184	0.655000	0.94253	GGC		0.453	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				31	76	1	0	1.13719e-10	0.008361	1.47723e-10	31	76				
ARSF	416	broad.mit.edu	37	X	3028249	3028249	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chrX:3028249G>T	ENST00000381127.1	+	10	1567	c.1346G>T	c.(1345-1347)tGt>tTt	p.C449F	ARSF_ENST00000359361.2_Missense_Mutation_p.C449F|ARSF_ENST00000537104.1_Missense_Mutation_p.C449F	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	449					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)	p.C449F(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TTCCACTACTGTGGCTCCTAC	0.592																																							uc004cre.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1345-1347)TGT>TTT		arylsulfatase F precursor							122.0	88.0	100.0					X																	3028249		2203	4300	6503	SO:0001583	missense	416					extracellular region	arylsulfatase activity|metal ion binding	g.chrX:3028249G>T	X97868	CCDS14123.1	Xp22.3	2013-02-14			ENSG00000062096	ENSG00000062096		"""Arylsulfatase family"""	721	protein-coding gene	gene with protein product		300003				7720070	Standard	NM_004042		Approved		uc022brz.1	P54793	OTTHUMG00000021081	ENST00000381127.1:c.1346G>T	X.37:g.3028249G>T	ENSP00000370519:p.Cys449Phe					ARSF_uc004crf.1_Missense_Mutation_p.C449F	p.C449F	NM_004042	NP_004033	P54793	ARSF_HUMAN			10	1567	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	449					Q8TCC5	Missense_Mutation	SNP	ENST00000381127.1	37	c.1346G>T	CCDS14123.1	.	.	.	.	.	.	.	.	.	.	G	13.13	2.145018	0.37825	.	.	ENSG00000062096	ENST00000381127;ENST00000537104;ENST00000359361	D;D;D	0.90955	-2.76;-2.76;-2.76	2.78	2.78	0.32641	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	U	0.000000	D	0.93321	0.7871	M	0.62154	1.92	0.58432	D	0.999996	D	0.89917	1.0	D	0.80764	0.994	D	0.92023	0.5627	10	0.35671	T	0.21	.	13.2845	0.60235	0.0:0.0:1.0:0.0	.	449	P54793	ARSF_HUMAN	F	449	ENSP00000370519:C449F;ENSP00000445594:C449F;ENSP00000352319:C449F	ENSP00000352319:C449F	C	+	2	0	ARSF	3038249	1.000000	0.71417	0.084000	0.20598	0.037000	0.13140	6.086000	0.71352	1.149000	0.42402	0.417000	0.27973	TGT		0.592	ARSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055652.1			21	16	1	0	2.37509e-13	0.010504	3.27812e-13	21	16				
MAP7D2	256714	broad.mit.edu	37	X	20034374	20034374	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chrX:20034374C>A	ENST00000379651.3	-	10	1377	c.1359G>T	c.(1357-1359)aaG>aaT	p.K453N	MAP7D2_ENST00000452324.3_Missense_Mutation_p.K401N|MIR23C_ENST00000579846.1_RNA|MAP7D2_ENST00000543767.1_Missense_Mutation_p.K338N|MAP7D2_ENST00000443379.3_Missense_Mutation_p.K408N|MAP7D2_ENST00000379643.5_Missense_Mutation_p.K494N	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	453					microtubule cytoskeleton organization (GO:0000226)	microtubule (GO:0005874)		p.K453N(1)|p.K494N(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						cttcttcctgctttcgggctt	0.493																																							uc004czr.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|breast(1)	3						c.(1357-1359)AAG>AAT		MAP7 domain containing 2							68.0	63.0	64.0					X																	20034374		2203	4300	6503	SO:0001583	missense	256714							g.chrX:20034374C>A	BC089400	CCDS14195.1, CCDS55384.1, CCDS55385.1, CCDS55386.1	Xp22.12	2008-02-05			ENSG00000184368	ENSG00000184368			25899	protein-coding gene	gene with protein product						12477932	Standard	NM_152780		Approved	FLJ14503	uc010nfo.2	Q96T17	OTTHUMG00000021228	ENST00000379651.3:c.1359G>T	X.37:g.20034374C>A	ENSP00000368972:p.Lys453Asn					MAP7D2_uc004czq.1_Missense_Mutation_p.K338N|MAP7D2_uc011mji.1_Missense_Mutation_p.K401N|MAP7D2_uc010nfo.1_Missense_Mutation_p.K494N|MAP7D2_uc011mjj.1_Missense_Mutation_p.K408N	p.K453N	NM_152780	NP_689993	Q96T17	MA7D2_HUMAN			10	1378	-			453					B7Z2J8|B7Z3S7|B9EGC7|C9JMA4|C9JYW0|Q5EBN1|Q5JPS7|Q6PIC7|Q8N792	Missense_Mutation	SNP	ENST00000379651.3	37	c.1359G>T	CCDS14195.1	.	.	.	.	.	.	.	.	.	.	C	9.717	1.158516	0.21454	.	.	ENSG00000184368	ENST00000379651;ENST00000379643;ENST00000543767;ENST00000443379;ENST00000544957;ENST00000452324	T;T;T;T;T	0.27256	1.68;1.68;1.68;1.68;1.68	5.19	-2.61	0.06171	.	0.067537	0.64402	D	0.000012	T	0.41050	0.1142	M	0.68952	2.095	0.09310	N	1	D;D;D;D;D	0.76494	0.999;0.998;0.998;0.999;0.998	D;D;D;D;D	0.73380	0.977;0.961;0.961;0.977;0.98	T	0.29518	-1.0009	10	0.46703	T	0.11	-8.9804	10.8536	0.46784	0.0:0.3078:0.0:0.6922	.	408;401;494;453;338	B7Z3S7;C9JYW0;Q96T17-2;Q96T17;F5GYC2	.;.;.;MA7D2_HUMAN;.	N	453;494;338;408;136;401	ENSP00000368972:K453N;ENSP00000368964:K494N;ENSP00000440691:K338N;ENSP00000388239:K408N;ENSP00000413301:K401N	ENSP00000368964:K494N	K	-	3	2	MAP7D2	19944295	0.030000	0.19436	0.003000	0.11579	0.418000	0.31294	-0.580000	0.05827	-0.852000	0.04141	0.540000	0.68198	AAG		0.493	MAP7D2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056001.1	NM_152780		7	15	1	0	3.09899e-07	0.004482	3.69924e-07	7	15				
IL1RAPL1	11141	broad.mit.edu	37	X	29973557	29973557	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chrX:29973557C>A	ENST00000378993.1	+	11	2384	c.1711C>A	c.(1711-1713)Cag>Aag	p.Q571K	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.Q571K	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	571	Interaction with NCS1.				calcium ion transmembrane transport (GO:0070588)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of exocytosis (GO:0045920)|neuron differentiation (GO:0030182)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor binding (GO:0005102)|voltage-gated calcium channel activity (GO:0005245)	p.Q571K(2)		biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						TACACATGAGCAGGCTTTAGA	0.493																																							uc004dby.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(1)|pancreas(1)	5						c.(1711-1713)CAG>AAG		interleukin 1 receptor accessory protein-like 1							57.0	53.0	54.0					X																	29973557		2202	4300	6502	SO:0001583	missense	11141				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity	g.chrX:29973557C>A	AJ243874	CCDS14218.1	Xp22.1-p21.3	2013-01-29	2004-02-13		ENSG00000169306	ENSG00000169306		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5996	protein-coding gene	gene with protein product		300206	"""mental retardation, X-linked 34"", ""mental retardation, X-linked 21"", ""mental retardation, X-linked 10"""	IL1RAPL, MRX34, MRX21, MRX10		10471494, 10757639	Standard	NM_014271		Approved	OPHN4, TIGIRR-2, IL1R8	uc004dby.2	Q9NZN1	OTTHUMG00000021317	ENST00000378993.1:c.1711C>A	X.37:g.29973557C>A	ENSP00000368278:p.Gln571Lys						p.Q571K	NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN			11	2219	+			571			Cytoplasmic (Potential).|Interaction with NCS1.		A0AVG4|Q9UJ53	Missense_Mutation	SNP	ENST00000378993.1	37	c.1711C>A	CCDS14218.1	.	.	.	.	.	.	.	.	.	.	C	12.12	1.843850	0.32606	.	.	ENSG00000169306	ENST00000378993;ENST00000302196	T;T	0.04015	3.73;3.73	5.25	5.25	0.73442	.	0.248699	0.44097	D	0.000494	T	0.07638	0.0192	L	0.46157	1.445	0.58432	D	0.999999	B	0.20164	0.042	B	0.27500	0.08	T	0.32025	-0.9922	9	.	.	.	.	17.953	0.89059	0.0:1.0:0.0:0.0	.	571	Q9NZN1	IRPL1_HUMAN	K	571	ENSP00000368278:Q571K;ENSP00000305200:Q571K	.	Q	+	1	0	IL1RAPL1	29883478	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.786000	0.69006	2.174000	0.68829	0.600000	0.82982	CAG		0.493	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056155.1	NM_014271		24	20	1	0	7.92952e-12	0.003954	1.05066e-11	24	20				
FAM47B	170062	broad.mit.edu	37	X	34961522	34961522	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chrX:34961522C>G	ENST00000329357.5	+	1	610	c.574C>G	c.(574-576)Ccc>Gcc	p.P192A		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	192	Pro-rich.							p.P192A(1)		breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						CCCGCGGCCTCCCGAGACTCC	0.657																																							uc004ddi.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)	4						c.(574-576)CCC>GCC		hypothetical protein LOC170062							26.0	30.0	29.0					X																	34961522		2200	4295	6495	SO:0001583	missense	170062							g.chrX:34961522C>G	BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.574C>G	X.37:g.34961522C>G	ENSP00000328307:p.Pro192Ala						p.P192A	NM_152631	NP_689844	Q8NA70	FA47B_HUMAN			1	592	+			192			Pro-rich.		Q5JQN5|Q6PIG3	Missense_Mutation	SNP	ENST00000329357.5	37	c.574C>G	CCDS14236.1	.	.	.	.	.	.	.	.	.	.	C	12.04	1.819022	0.32145	.	.	ENSG00000189132	ENST00000329357	T	0.21734	1.99	0.602	0.602	0.17535	.	.	.	.	.	T	0.27349	0.0671	M	0.77103	2.36	0.09310	N	0.999999	P	0.47106	0.89	P	0.46758	0.526	T	0.14254	-1.0479	9	0.49607	T	0.09	.	4.259	0.10732	1.0E-4:0.5609:0.439:0.0	.	192	Q8NA70	FA47B_HUMAN	A	192	ENSP00000328307:P192A	ENSP00000328307:P192A	P	+	1	0	FAM47B	34871443	0.593000	0.26840	0.036000	0.18154	0.030000	0.12068	0.294000	0.19047	0.543000	0.28864	0.292000	0.19580	CCC		0.657	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1	NM_152631		9	14	0	0	0	0.008291	0	9	14				
CYBB	1536	broad.mit.edu	37	X	37663315	37663315	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chrX:37663315G>T	ENST00000378588.4	+	9	1150	c.1083G>T	c.(1081-1083)tgG>tgT	p.W361C	TM4SF2_ENST00000465127.1_Intron|CYBB_ENST00000536160.1_Missense_Mutation_p.W94C|CYBB_ENST00000545017.1_Missense_Mutation_p.W329C|CYBB_ENST00000492288.1_3'UTR	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN	cytochrome b-245, beta polypeptide	361	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|hydrogen peroxide biosynthetic process (GO:0050665)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|respiratory burst (GO:0045730)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|neuronal cell body (GO:0043025)|phagocytic vesicle membrane (GO:0030670)|rough endoplasmic reticulum (GO:0005791)	flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|superoxide-generating NADPH oxidase activity (GO:0016175)|voltage-gated ion channel activity (GO:0005244)	p.W361C(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32					Dextromethorphan(DB00514)	TTGGGGACTGGACAGAGGGGC	0.473																																							uc004ddr.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2	GRCh37	CM015939	CYBB	M		c.(1081-1083)TGG>TGT		cytochrome b-245 beta polypeptide							78.0	74.0	75.0					X																	37663315		2202	4300	6502	SO:0001583	missense	1536				electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity	g.chrX:37663315G>T	X04011	CCDS14242.1	Xp21.1	2014-09-17	2008-07-29		ENSG00000165168	ENSG00000165168		"""Cytochrome b genes"""	2578	protein-coding gene	gene with protein product		300481	"""chronic granulomatous disease"""	CGD			Standard	NM_000397		Approved	GP91-PHOX, NOX2	uc004ddr.2	P04839	OTTHUMG00000033175	ENST00000378588.4:c.1083G>T	X.37:g.37663315G>T	ENSP00000367851:p.Trp361Cys					CYBB_uc011mke.1_RNA|CYBB_uc011mkf.1_Missense_Mutation_p.W329C|CYBB_uc011mkg.1_Missense_Mutation_p.W94C	p.W361C	NM_000397	NP_000388	P04839	CY24B_HUMAN			9	1144	+			361			Cytoplasmic (Potential).|FAD-binding FR-type.		A8K138|Q2PP16	Missense_Mutation	SNP	ENST00000378588.4	37	c.1083G>T	CCDS14242.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.467337	0.84533	.	.	ENSG00000165168	ENST00000378588;ENST00000545017;ENST00000536160	D;D;D	0.92911	-3.13;-3.13;-3.13	5.77	5.77	0.91146	Riboflavin synthase-like beta-barrel (1);FAD-binding 8 (1);Ferredoxin reductase-type FAD-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.97876	0.9302	H	0.97918	4.105	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99271	1.0893	10	0.87932	D	0	.	18.9785	0.92747	0.0:0.0:1.0:0.0	.	329;361	F5GWD2;P04839	.;CY24B_HUMAN	C	361;329;94	ENSP00000367851:W361C;ENSP00000441896:W329C;ENSP00000441958:W94C	ENSP00000367851:W361C	W	+	3	0	CYBB	37548259	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.476000	0.97823	2.430000	0.82344	0.544000	0.68410	TGG		0.473	CYBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080881.1			18	40	1	0	2.44723e-14	0.004656	3.48665e-14	18	40				
PCDH11X	27328	broad.mit.edu	37	X	91134201	91134201	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chrX:91134201C>A	ENST00000373094.1	+	2	3807	c.2962C>A	c.(2962-2964)Ccc>Acc	p.P988T	PCDH11X_ENST00000373097.1_Missense_Mutation_p.P988T|PCDH11X_ENST00000298274.8_Missense_Mutation_p.P988T|PCDH11X_ENST00000361724.1_Missense_Mutation_p.P988T|PCDH11X_ENST00000395337.2_Missense_Mutation_p.P988T|PCDH11X_ENST00000373088.1_Missense_Mutation_p.P988T|PCDH11X_ENST00000504220.2_Missense_Mutation_p.P988T|PCDH11X_ENST00000406881.1_Missense_Mutation_p.P988T|PCDH11X_ENST00000361655.2_Missense_Mutation_p.P988T	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	988					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P988T(3)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CAGTTCAGATCCCTACAGCGT	0.493																																					NSCLC(38;925 1092 2571 38200 45895)	NSCLC(38;925 1092 2571 38200 45895)	uc004efk.1		NA																	3	Substitution - Missense(3)		lung(3)	large_intestine(2)	2						c.(2962-2964)CCC>ACC		protocadherin 11 X-linked isoform c							242.0	185.0	205.0					X																	91134201		2203	4300	6503	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91134201C>A	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.2962C>A	X.37:g.91134201C>A	ENSP00000362186:p.Pro988Thr					PCDH11X_uc004efl.1_Missense_Mutation_p.P988T|PCDH11X_uc004efo.1_Missense_Mutation_p.P988T|PCDH11X_uc010nmv.1_Missense_Mutation_p.P988T|PCDH11X_uc004efm.1_Missense_Mutation_p.P988T|PCDH11X_uc004efn.1_Missense_Mutation_p.P988T|PCDH11X_uc004efh.1_Missense_Mutation_p.P988T|PCDH11X_uc004efj.1_Missense_Mutation_p.P988T	p.P988T	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN			2	3807	+			988			Cytoplasmic (Potential).		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.2962C>A	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	C	14.48	2.549148	0.45383	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56	5.35	5.35	0.76521	Protocadherin (1);	0.062950	0.64402	D	0.000004	T	0.53351	0.1791	M	0.62723	1.935	0.48395	D	0.999647	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.995	D;D;D;D;D;D;D;D	0.91635	0.982;0.986;0.986;0.986;0.986;0.992;0.999;0.962	T	0.49716	-0.8910	10	0.37606	T	0.19	.	16.9575	0.86263	0.0:1.0:0.0:0.0	.	988;988;988;988;988;988;988;988	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	T	988	ENSP00000378746:P988T;ENSP00000362186:P988T;ENSP00000362189:P988T;ENSP00000355040:P988T;ENSP00000362180:P988T;ENSP00000423762:P988T;ENSP00000355105:P988T;ENSP00000384758:P988T;ENSP00000298274:P988T	ENSP00000298274:P988T	P	+	1	0	PCDH11X	91020857	1.000000	0.71417	1.000000	0.80357	0.687000	0.40016	7.209000	0.77916	2.211000	0.71520	0.600000	0.82982	CCC		0.493	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		67	58	1	0	1.43987e-31	0.01441	2.38478e-31	67	58				
NXF5	55998	broad.mit.edu	37	X	101095868	101095868	+	Splice_Site	SNP	C	C	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chrX:101095868C>A	ENST00000361708.2	-	9	840		c.e9-1		NXF5_ENST00000537026.1_Splice_Site|NXF5_ENST00000473265.2_Splice_Site			Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5						mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.?(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						AAGACAACAGCTTTGGGTCAA	0.483																																							uc011mrk.1		NA																	1	Unknown(1)		lung(1)	central_nervous_system(1)	1						c.e9-1		nuclear RNA export factor 5							64.0	56.0	58.0					X																	101095868		2201	4298	6499	SO:0001630	splice_region_variant	55998				mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding	g.chrX:101095868C>A	AJ277654	CCDS14491.1, CCDS14491.2	Xq22	2008-07-28			ENSG00000126952	ENSG00000126952			8075	protein-coding gene	gene with protein product		300319				11566096	Standard	NM_032946		Approved		uc011mrk.1	Q9H1B4	OTTHUMG00000022042	ENST00000361708.2:c.481-1G>T	X.37:g.101095868C>A						NXF5_uc004eih.1_Splice_Site|NXF5_uc004eii.1_Intron|NXF5_uc004eij.1_Splice_Site|NXF5_uc004eik.1_Splice_Site|NXF5_uc004eil.1_Splice_Site	p.L161_splice	NM_032946	NP_116564	Q9H1B4	NXF5_HUMAN			9	841	-								A2RRM0|B1AV82|B1AV83|B1AV84|B1AV85|Q9H1B0|Q9H1B1|Q9H1B2|Q9H1B3	Splice_Site	SNP	ENST00000361708.2	37	c.481_splice		.	.	.	.	.	.	.	.	.	.	c	8.747	0.920353	0.17982	.	.	ENSG00000126952	ENST00000537026;ENST00000473265;ENST00000361708	.	.	.	2.05	1.16	0.20824	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.2251	0.31564	0.0:0.7561:0.2439:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NXF5	100982524	1.000000	0.71417	0.064000	0.19789	0.182000	0.23217	5.128000	0.64733	0.361000	0.24292	-1.725000	0.00704	.		0.483	NXF5-201	KNOWN	basic	protein_coding	protein_coding			Intron	6	30	1	0	0.000157383	0.00308	0.000170231	6	30				
GPR112	139378	broad.mit.edu	37	X	135482182	135482182	+	Missense_Mutation	SNP	G	G	T	rs200090860		TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chrX:135482182G>T	ENST00000394143.1	+	21	8773	c.8482G>T	c.(8482-8484)Ggc>Tgc	p.G2828C	GPR112_ENST00000412101.1_Missense_Mutation_p.G2623C|GPR112_ENST00000370652.1_Missense_Mutation_p.G2828C|GPR112_ENST00000287534.4_Missense_Mutation_p.G2581C|GPR112_ENST00000394141.1_Missense_Mutation_p.G2623C	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2828					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.G2828C(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TACTTGGATGGGCCTGGAGGC	0.388																																							uc004ezu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12						c.(8482-8484)GGC>TGC		G-protein coupled receptor 112							231.0	184.0	200.0					X																	135482182		2203	4300	6503	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135482182G>T	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.8482G>T	X.37:g.135482182G>T	ENSP00000377699:p.Gly2828Cys					GPR112_uc010nsb.1_Missense_Mutation_p.G2623C	p.G2828C	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN			21	8773	+	Acute lymphoblastic leukemia(192;0.000127)		2828			Cytoplasmic (Potential).		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.8482G>T	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	G	18.62	3.662245	0.67700	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3	5.1	5.1	0.69264	GPCR, family 2-like (1);	.	.	.	.	T	0.50667	0.1629	L	0.42686	1.345	0.42845	D	0.994063	D;D	0.65815	0.981;0.995	D;D	0.74348	0.922;0.983	T	0.49943	-0.8885	9	0.51188	T	0.08	.	13.5364	0.61650	0.0:0.0:0.8437:0.1563	.	2623;2828	Q8IZF6-3;Q8IZF6	.;GP112_HUMAN	C	2828;2828;2623;2581;2623	ENSP00000377699:G2828C;ENSP00000359686:G2828C;ENSP00000416526:G2623C;ENSP00000287534:G2581C;ENSP00000377697:G2623C	ENSP00000287534:G2581C	G	+	1	0	GPR112	135309848	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	3.711000	0.54868	2.255000	0.74692	0.544000	0.68410	GGC		0.388	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			69	70	1	0	1.05635e-38	0.01441	1.84166e-38	69	70				
HTATSF1	27336	broad.mit.edu	37	X	135593999	135593999	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chrX:135593999G>T	ENST00000218364.4	+	9	2269	c.2095G>T	c.(2095-2097)Gat>Tat	p.D699Y	HTATSF1_ENST00000535601.1_Missense_Mutation_p.D699Y	NM_014500.4	NP_055315.2	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	699	Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.				regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.D699Y(1)		NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					GTTGTTCGAAGATGATGATTC	0.428																																							uc004ezw.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(2095-2097)GAT>TAT		HIV-1 Tat specific factor 1							230.0	198.0	209.0					X																	135593999		2203	4300	6503	SO:0001583	missense	27336				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding	g.chrX:135593999G>T	U76992	CCDS14657.1	Xq26.3	2013-02-12	2006-01-09		ENSG00000102241	ENSG00000102241		"""RNA binding motif (RRM) containing"""	5276	protein-coding gene	gene with protein product		300346	"""HIV TAT specific factor 1"""			8849451	Standard	NM_014500		Approved	TAT-SF1	uc004ezx.3	O43719	OTTHUMG00000022510	ENST00000218364.4:c.2095G>T	X.37:g.135593999G>T	ENSP00000218364:p.Asp699Tyr					HTATSF1_uc004ezx.2_Missense_Mutation_p.D699Y	p.D699Y	NM_001163280	NP_001156752	O43719	HTSF1_HUMAN			10	2517	+	Acute lymphoblastic leukemia(192;0.000127)		699			Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.		D3DWG9|Q59G06|Q99730	Missense_Mutation	SNP	ENST00000218364.4	37	c.2095G>T	CCDS14657.1	.	.	.	.	.	.	.	.	.	.	G	10.96	1.498978	0.26861	.	.	ENSG00000102241	ENST00000535601;ENST00000218364;ENST00000415377	T;T	0.40476	1.03;1.03	4.1	4.1	0.47936	.	0.498628	0.17196	N	0.183312	T	0.40347	0.1113	N	0.08118	0	0.29508	N	0.854397	D	0.69078	0.997	P	0.61201	0.885	T	0.39742	-0.9599	10	0.87932	D	0	-10.1472	12.9207	0.58230	0.0:0.0:1.0:0.0	.	699	O43719	HTSF1_HUMAN	Y	699;699;665	ENSP00000442699:D699Y;ENSP00000218364:D699Y	ENSP00000218364:D699Y	D	+	1	0	HTATSF1	135421665	1.000000	0.71417	0.829000	0.32907	0.377000	0.30045	2.984000	0.49353	2.311000	0.77944	0.523000	0.50628	GAT		0.428	HTATSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058497.1	NM_014500		62	48	1	0	1.61742e-36	0.01441	2.78321e-36	62	48				
AFF2	2334	broad.mit.edu	37	X	148048526	148048526	+	Silent	SNP	G	G	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chrX:148048526G>A	ENST00000370460.2	+	14	3599	c.3120G>A	c.(3118-3120)ctG>ctA	p.L1040L	AFF2_ENST00000342251.3_Silent_p.L1007L|AFF2_ENST00000286437.5_Silent_p.L681L|AFF2_ENST00000370457.5_Silent_p.L1005L	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1040					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)	p.L1040L(2)|p.L681L(1)		breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GCAGTCACCTGGAGATGACGT	0.542																																							uc004fcp.2		NA																	3	Substitution - coding silent(3)		lung(3)	ovary(3)|pancreas(2)	5						c.(3118-3120)CTG>CTA		fragile X mental retardation 2							344.0	256.0	286.0					X																	148048526		2203	4300	6503	SO:0001819	synonymous_variant	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:148048526G>A	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.3120G>A	X.37:g.148048526G>A						AFF2_uc004fcq.2_Silent_p.L1030L|AFF2_uc004fcr.2_Silent_p.L1001L|AFF2_uc011mxb.1_Silent_p.L1005L|AFF2_uc004fcs.2_Silent_p.L1005L|AFF2_uc011mxc.1_Silent_p.L681L	p.L1040L	NM_002025	NP_002016	P51816	AFF2_HUMAN			14	3599	+	Acute lymphoblastic leukemia(192;6.56e-05)		1040					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Silent	SNP	ENST00000370460.2	37	c.3120G>A	CCDS14684.1																																																																																				0.542	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		16	198	0	0	0	0.006122	0	16	198				
VBP1	7411	broad.mit.edu	37	X	154464554	154464554	+	Silent	SNP	G	G	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chrX:154464554G>A	ENST00000286428.5	+	5	546	c.429G>A	c.(427-429)ttG>ttA	p.L143L	VBP1_ENST00000535916.1_Silent_p.L138L|VBP1_ENST00000459836.1_3'UTR	NM_003372.5	NP_003363.1	P61758	PFD3_HUMAN	von Hippel-Lindau binding protein 1	143					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)		p.L143L(1)		NS(1)|endometrium(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CTCAGGCATTGTTGGAAAAGA	0.368																																							uc004fnc.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(427-429)TTG>TTA		von Hippel-Lindau binding protein 1							126.0	116.0	120.0					X																	154464554		2203	4300	6503	SO:0001819	synonymous_variant	7411				'de novo' posttranslational protein folding	nucleus|prefoldin complex	unfolded protein binding	g.chrX:154464554G>A	U56833	CCDS14765.1	Xq28	2008-07-07			ENSG00000155959	ENSG00000155959			12662	protein-coding gene	gene with protein product	"""prefoldin 3"""	300133				8674032, 9339366	Standard	NM_003372		Approved	PFD3, PFDN3	uc004fnc.3	P61758	OTTHUMG00000022666	ENST00000286428.5:c.429G>A	X.37:g.154464554G>A						VBP1_uc004fnd.2_Silent_p.L106L	p.L143L	NM_003372	NP_003363	P61758	PFD3_HUMAN			5	488	+	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		143					B2R8L5|O55228|Q15765|Q5JT81|Q86X96	Silent	SNP	ENST00000286428.5	37	c.429G>A	CCDS14765.1																																																																																				0.368	VBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058806.1			26	96	0	0	0	0.00632	0	26	96				
SLC6A9	6536	broad.mit.edu	37	1	44489938	44489938	+	Frame_Shift_Del	DEL	T	T	-	rs201148088		TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr1:44489938delT	ENST00000372310.3	-	2	177	c.12delA	c.(10-12)aaafs	p.K4fs	SLC6A9_ENST00000372306.3_Frame_Shift_Del_p.K4fs|SLC6A9_ENST00000492434.2_5'UTR|SLC6A9_ENST00000475075.2_5'UTR|SLC6A9_ENST00000537678.1_5'UTR	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	335					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	CTTTGGCACCTTTTCCTACCA	0.627																																							uc001cln.2		NA																	0					0						c.(10-12)AAAfs		solute carrier family 6 member 9 isoform 3	Glycine(DB00145)						231.0	218.0	222.0					1																	44489938		2203	4300	6503	SO:0001589	frameshift_variant	6536					integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr1:44489938delT	S70609	CCDS30695.1, CCDS41316.1, CCDS41317.1	1p33	2013-05-22			ENSG00000196517	ENSG00000196517		"""Solute carriers"""	11056	protein-coding gene	gene with protein product		601019				8183239, 7587377	Standard	NM_006934		Approved	GLYT1	uc001cll.4	P48067	OTTHUMG00000008294	ENST00000372310.3:c.12delA	1.37:g.44489938delT	ENSP00000361384:p.Lys4fs					SLC6A9_uc010okm.1_Frame_Shift_Del_p.K4fs|SLC6A9_uc010oko.1_5'UTR|SLC6A9_uc010okp.1_RNA	p.K4fs	NM_001024845	NP_001020016	P48067	SC6A9_HUMAN			2	254	-	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A6NDH1|A6NII2|A6NNZ8|Q5TAB8|Q5TAB9|Q5TAC0	Frame_Shift_Del	DEL	ENST00000372310.3	37	c.12delA	CCDS30695.1																																																																																				0.627	SLC6A9-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022827.1	NM_201649		7	577	NA	NA	NA	NA	NA	7	577	---	---	---	---
OR52R1	119695	broad.mit.edu	37	11	4824745	4824746	+	Frame_Shift_Ins	INS	-	-	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr11:4824745_4824746insT	ENST00000356069.2	-	1	864_865	c.865_866insA	c.(865-867)atgfs	p.M289fs	MMP26_ENST00000477339.1_Intron|OR52R1_ENST00000380382.1_Frame_Shift_Ins_p.M368fs|MMP26_ENST00000380390.1_Intron	NM_001005177.3	NP_001005177.3	Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	289						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGGGTTGAGCATGGGAGGTATC	0.475																																							uc010qym.1		NA																	0				skin(1)	1						c.(1102-1104)ATGfs		olfactory receptor, family 52, subfamily R,																																				SO:0001589	frameshift_variant	119695				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4824745_4824746insT	BK004282	CCDS31360.1, CCDS31360.2	11p15.4	2012-08-09			ENSG00000176937	ENSG00000176937		"""GPCR / Class A : Olfactory receptors"""	15235	protein-coding gene	gene with protein product							Standard	NM_001005177		Approved		uc021qcs.1	Q8NGF1	OTTHUMG00000066510	ENST00000356069.2:c.866dupA	11.37:g.4824746_4824746dupT	ENSP00000348368:p.Met289fs						p.M368fs	NM_001005177	NP_001005177	Q8NGF1	O52R1_HUMAN		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	1102_1103	-		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)	289			Helical; Name=7; (Potential).		Q6IFI0	Frame_Shift_Ins	INS	ENST00000356069.2	37	c.1102_1103insA	CCDS31360.2																																																																																				0.475	OR52R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142183.1	NM_001005177		37	198	NA	NA	NA	NA	NA	37	198	---	---	---	---
MYCBPAP	84073	broad.mit.edu	37	17	48604672	48604673	+	Frame_Shift_Ins	INS	-	-	ACCACAG			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr17:48604672_48604673insACCACAG	ENST00000323776.5	+	15	2485_2486	c.2323_2324insACCACAG	c.(2323-2325)aacfs	p.-777fs	MYCBPAP_ENST00000436259.2_Frame_Shift_Ins_p.-740fs	NM_032133.4	NP_115509.4			MYCBP associated protein											breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			CCCTGATGAGAACCACAGAGAG	0.574																																							uc010wmr.1		NA																	0				urinary_tract(2)|skin(2)|ovary(1)|pancreas(1)	6						c.(2323-2325)AACfs		Myc-binding protein-associated protein																																				SO:0001589	frameshift_variant	84073				cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding	g.chr17:48604672_48604673insACCACAG	BC028393	CCDS32680.2	17q21.33	2004-02-19			ENSG00000136449	ENSG00000136449			19677	protein-coding gene	gene with protein product		609835				12151104	Standard	NM_032133		Approved	AMAP-1, DKFZp434N1415	uc010wmr.2	Q8TBZ2	OTTHUMG00000157184	ENST00000323776.5:c.2324_2330dupACCACAG	17.37:g.48604673_48604679dupACCACAG	ENSP00000323184:p.Arg777fs					MYCBPAP_uc002iqz.2_RNA	p.N775fs	NM_032133	NP_115509	Q8TBZ2	MYBPP_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.23e-09)		15	2485_2486	+	Breast(11;1.23e-18)		738						Frame_Shift_Ins	INS	ENST00000323776.5	37	c.2323_2324insACCACAG	CCDS32680.2																																																																																				0.574	MYCBPAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347814.1	NM_032133		27	140	NA	NA	NA	NA	NA	27	140	---	---	---	---
DNAJC10	54431	broad.mit.edu	37	2	183597269	183597269	+	Splice_Site	DEL	G	G	-			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr2:183597269delG	ENST00000264065.7	+	10	1264	c.849delG	c.(847-849)ttg>tt	p.L283fs	DNAJC10_ENST00000537515.1_Splice_Site_p.L283fs	NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	283	Trxb 1.				cell redox homeostasis (GO:0045454)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATPase activity (GO:0032781)|protein folding in endoplasmic reticulum (GO:0034975)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|chaperone binding (GO:0051087)|disulfide oxidoreductase activity (GO:0015036)|Hsp70 protein binding (GO:0030544)|misfolded protein binding (GO:0051787)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide oxidoreductase activity (GO:0015035)			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			GTGGCATGTTGGTAAGCATCA	0.328																																					Pancreas(56;860 1183 25669 35822 48585)	Pancreas(56;860 1183 25669 35822 48585)	uc002uow.1		NA																	0				ovary(1)|large_intestine(1)|breast(1)|skin(1)	4						c.(847-849)TTGfs		DnaJ (Hsp40) homolog, subfamily C, member 10							142.0	137.0	138.0					2																	183597269		2203	4300	6503	SO:0001630	splice_region_variant	54431				apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding	g.chr2:183597269delG		CCDS33345.1, CCDS74613.1	2q32.1	2011-11-23			ENSG00000077232	ENSG00000077232		"""Heat shock proteins / DNAJ (HSP40)"", ""Protein disulfide isomerases"""	24637	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 19"""	607987				12411443, 12446677	Standard	NM_018981		Approved	ERdj5, PDIA19	uc002uow.2	Q8IXB1	OTTHUMG00000154209	ENST00000264065.7:c.849+1G>-	2.37:g.183597269delG						DNAJC10_uc002uox.1_RNA|DNAJC10_uc002uoy.1_RNA|DNAJC10_uc002uoz.1_Frame_Shift_Del_p.L283fs|DNAJC10_uc010fro.1_Intron	p.L283fs	NM_018981	NP_061854	Q8IXB1	DJC10_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)		10	1264	+			283					Q17RJ6|Q3B7W8|Q4ZG06|Q53QT7|Q6UWZ6|Q86T61|Q8NC82|Q8TD87|Q96K38|Q96K44|Q96K54|Q9NSY6	Frame_Shift_Del	DEL	ENST00000264065.7	37	c.849delG	CCDS33345.1																																																																																				0.328	DNAJC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334418.2	NM_018981	Frame_Shift_Del	45	134	NA	NA	NA	NA	NA	45	134	---	---	---	---
TMEM175	84286	broad.mit.edu	37	4	944247	944261	+	In_Frame_Del	DEL	GATTGCCGTCTACCT	GATTGCCGTCTACCT	-	rs142778595|rs201255814|rs146669830|rs151228848	byFrequency	TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	GATTGCCGTCTACCT	GATTGCCGTCTACCT	-	-	GATTGCCGTCTACCT	GATTGCCGTCTACCT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr4:944247_944261delGATTGCCGTCTACCT	ENST00000264771.4	+	4	416_430	c.231_245delGATTGCCGTCTACCT	c.(229-246)cggattgccgtctacctg>cgg	p.IAVYL78del	TMEM175_ENST00000515740.1_5'UTR|TMEM175_ENST00000504180.1_3'UTR|TMEM175_ENST00000508204.1_5'UTR	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175	78						integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			TGGCAACACGGATTGCCGTCTACCTGATGACCTTT	0.581																																							uc003gbq.2		NA																	0					0						c.(229-246)CGGATTGCCGTCTACCTG>CGG		transmembrane protein 175																																				SO:0001651	inframe_deletion	84286					integral to membrane		g.chr4:944247_944261delGATTGCCGTCTACCT	BC005158	CCDS3341.1, CCDS75087.1, CCDS75088.1	4p16.3	2008-02-05			ENSG00000127419	ENSG00000127419			28709	protein-coding gene	gene with protein product						12477932	Standard	XM_005272301		Approved	MGC4618	uc003gbq.3	Q9BSA9	OTTHUMG00000118996	ENST00000264771.4:c.231_245delGATTGCCGTCTACCT	4.37:g.944247_944261delGATTGCCGTCTACCT	ENSP00000264771:p.Ile78_Leu82del					TMEM175_uc010ibl.1_In_Frame_Del_p.IAVYL78del|TMEM175_uc003gbp.1_5'UTR|TMEM175_uc003gbr.2_5'UTR|TMEM175_uc003gbu.2_5'UTR|TMEM175_uc003gbs.2_5'UTR|TMEM175_uc003gbt.2_5'UTR|TMEM175_uc003gbv.2_5'UTR|TMEM175_uc010ibm.2_5'Flank	p.IAVYL78del	NM_032326	NP_115702	Q9BSA9	TM175_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		4	329_343	+			78_82			Helical; (Potential).		D3DVN4|Q8ND13	In_Frame_Del	DEL	ENST00000264771.4	37	c.231_245delGATTGCCGTCTACCT	CCDS3341.1																																																																																				0.581	TMEM175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239193.2	NM_032326		16	76	NA	NA	NA	NA	NA	16	76	---	---	---	---
CXXC4	80319	broad.mit.edu	37	4	105412047	105412049	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	TCT	TCT	-	-	TCT	TCT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr4:105412047_105412049delTCT	ENST00000426831.1	-	1	418_420	c.404_406delAGA	c.(403-408)aagagg>agg	p.K135del	AC093628.1_ENST00000606234.1_RNA|AC004053.1_ENST00000500179.1_RNA|CXXC4_ENST00000394767.2_In_Frame_Del_p.K304del|CXXC4_ENST00000466963.1_Intron			Q9H2H0	CXXC4_HUMAN	CXXC finger protein 4	135					negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)|zygotic specification of dorsal/ventral axis (GO:0007352)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)	DNA binding (GO:0003677)|PDZ domain binding (GO:0030165)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)		CACCTTTTCCTCTTCTTCTTGGC	0.571																																							uc003hxg.2		NA																	0				ovary(1)	1						c.(403-408)AAGAGG>AGG		CXXC finger 4																																				SO:0001651	inframe_deletion	80319				negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis		DNA binding|PDZ domain binding|zinc ion binding	g.chr4:105412047_105412049delTCT		CCDS3665.1, CCDS3665.2	4q22-q24	2014-02-18	2011-12-01		ENSG00000168772	ENSG00000168772			24593	protein-coding gene	gene with protein product	"""Dvl-binding protein IDAX (inhibition of the Dvl and Axin complex)"""	611645				11113207	Standard	NM_025212		Approved	IDAX	uc003hxf.2	Q9H2H0	OTTHUMG00000131121	ENST00000426831.1:c.404_406delAGA	4.37:g.105412053_105412055delTCT	ENSP00000412267:p.Lys135del					uc003hxh.1_5'Flank|CXXC4_uc010ilo.2_Intron	p.K135del	NM_025212	NP_079488	Q9H2H0	CXXC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)	1	419_421	-			135			CXXC-type.			In_Frame_Del	DEL	ENST00000426831.1	37	c.404_406delAGA																																																																																					0.571	CXXC4-201	KNOWN	basic	protein_coding	protein_coding		NM_025212		12	94	NA	NA	NA	NA	NA	12	94	---	---	---	---
TLN1	7094	broad.mit.edu	37	9	35707111	35707112	+	Frame_Shift_Ins	INS	-	-	G	rs538218511		TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr9:35707111_35707112insG	ENST00000314888.9	-	37	5265_5266	c.4912_4913insC	c.(4912-4914)cgtfs	p.R1638fs	TLN1_ENST00000540444.1_Frame_Shift_Ins_p.R1638fs|TLN1_ENST00000464379.1_Intron	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1638	Interaction with SYNM.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TGAGACAGTACGGGAGTGGCCG	0.599																																							uc003zxt.2		NA																	0				lung(7)|breast(3)|ovary(2)|central_nervous_system(1)	13						c.(4912-4914)CGTfs		talin 1																																				SO:0001589	frameshift_variant	7094				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	g.chr9:35707111_35707112insG	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.4913dupC	9.37:g.35707114_35707114dupG	ENSP00000316029:p.Arg1638fs						p.R1638fs	NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		37	5266_5267	-	all_epithelial(49;0.167)		1638			Interaction with SYNM.		A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Frame_Shift_Ins	INS	ENST00000314888.9	37	c.4912_4913insC	CCDS35009.1																																																																																				0.599	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		16	224	NA	NA	NA	NA	NA	16	224	---	---	---	---
