#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
CAMTA1	23261	broad.mit.edu	37	1	7723412	7723412	+	Splice_Site	SNP	G	G	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr1:7723412G>T	ENST00000303635.7	+	9	1012		c.e9-1		CAMTA1_ENST00000439411.2_Splice_Site	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.?(1)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GATCTCCGCAGGAGCTGGCGG	0.607			T	WWTR1	epitheliod hemangioendothelioma																																	ENST00000303635.7				Dom	yes		1	1p36.31-p36.23	611501	T	calmodulin binding transcription activator 1			M	WWTR1		epitheliod hemangioendothelioma		1	Unknown(1)	p.?(1)	prostate(1)	breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85						c.e9-1		calmodulin binding transcription activator 1							114.0	113.0	114.0					1																	7723412		2203	4300	6503	SO:0001630	splice_region_variant	23261				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	g.chr1:7723412G>T	AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.806-1G>T	1.37:g.7723412G>T			Somatic				CAMTA1_ENST00000439411.2_Splice_Site		NM_015215.2	NP_056030.1	WXS	Illumina GAIIx	Phase_I	Q9Y6Y1	CMTA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)	9	1012	+	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)						A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Splice_Site	SNP	ENST00000303635.7	37		CCDS30576.1	.	.	.	.	.	.	.	.	.	.	G	13.61	2.288625	0.40494	.	.	ENSG00000171735	ENST00000303635;ENST00000439411	.	.	.	4.89	4.89	0.63831	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0692	0.89400	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CAMTA1	7645999	1.000000	0.71417	1.000000	0.80357	0.415000	0.31203	9.760000	0.98935	2.271000	0.75665	0.549000	0.68633	.		0.607	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215	Intron	52	246	52	246	---	---	---	---
PRDM2	7799	broad.mit.edu	37	1	14105677	14105677	+	Missense_Mutation	SNP	G	G	A	rs143566559	byFrequency	TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr1:14105677G>A	ENST00000235372.7	+	8	2243	c.1387G>A	c.(1387-1389)Gct>Act	p.A463T	PRDM2_ENST00000311066.5_Missense_Mutation_p.A463T|PRDM2_ENST00000343137.4_Missense_Mutation_p.A262T|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.A262T|PRDM2_ENST00000505823.1_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	463					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.A463T(1)		endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		TTCAGAGAAGGCTTCCCAAGA	0.418													G|||	3	0.000599042	0.0023	0.0	5008	,	,		20246	0.0		0.0	False		,,,				2504	0.0					ENST00000235372.7																			1	Substitution - Missense(1)	p.A463T(1)	prostate(1)	endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55						c.(1387-1389)Gct>Act		PR domain containing 2, with ZNF domain		G	THR/ALA,,THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	42.0	40.0	41.0		784,,1387,1387	3.6	0.2	1	dbSNP_134	41	0,8600		0,0,4300	yes	missense,intron,missense,missense	PRDM2	NM_001007257.2,NM_001135610.1,NM_012231.4,NM_015866.4	58,,58,58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,,benign,benign	262/1482,,463/1719,463/1683	14105677	1,13005	2203	4300	6503	SO:0001583	missense	7799					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:14105677G>A	U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"""Chromatin-modifying enzymes / K-methyltransferases"""	9347	protein-coding gene	gene with protein product	"""retinoblastoma protein-binding zinc finger protein"", ""retinoblastoma protein-interacting zinc finger protein"", ""MTE-binding protein"", ""zinc-finger DNA-binding protein"", ""GATA-3 binding protein G3B"""	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.1387G>A	1.37:g.14105677G>A	ENSP00000235372:p.Ala463Thr		Somatic				PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.A262T|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.A463T|PRDM2_ENST00000413440.1_Missense_Mutation_p.A262T	p.A463T	NM_012231.4	NP_036363.2	WXS	Illumina GAIIx	Phase_I	Q13029	PRDM2_HUMAN	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)	8	2243	+	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	463					B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Missense_Mutation	SNP	ENST00000235372.7	37	c.1387G>A	CCDS150.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	0.471	-0.884446	0.02530	2.27E-4	0.0	ENSG00000116731	ENST00000235372;ENST00000311066;ENST00000400800;ENST00000413440;ENST00000343137	T;T;T;T	0.01599	4.84;4.74;4.75;4.75	5.48	3.59	0.41128	.	0.545977	0.18598	N	0.136536	T	0.01287	0.0042	L	0.27053	0.805	0.09310	N	1	B;B;B;B	0.30824	0.091;0.001;0.296;0.147	B;B;B;B	0.27715	0.038;0.001;0.027;0.082	T	0.48468	-0.9033	10	0.14252	T	0.57	.	4.7868	0.13229	0.082:0.15:0.6128:0.1552	.	463;321;463;463	A8MW16;Q5THJ0;Q13029;Q13029-2	.;.;PRDM2_HUMAN;.	T	463;463;463;262;262	ENSP00000235372:A463T;ENSP00000312352:A463T;ENSP00000411103:A262T;ENSP00000341621:A262T	ENSP00000235372:A463T	A	+	1	0	PRDM2	13978264	0.105000	0.21958	0.170000	0.22879	0.400000	0.30750	2.782000	0.47758	0.655000	0.30866	-0.264000	0.10439	GCT		0.418	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	NM_012231		7	70	7	70	---	---	---	---
GBP3	2635	broad.mit.edu	37	1	89480252	89480252	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr1:89480252G>A	ENST00000370481.4	-	4	626	c.406C>T	c.(406-408)Cag>Tag	p.Q136*	GBP3_ENST00000475853.2_5'Flank	NM_018284.2	NP_060754.2	Q8WXF7	ATLA1_HUMAN	guanylate binding protein 3	184	GB1/RHD3-type G.				axonogenesis (GO:0007409)|cell death (GO:0008219)|endoplasmic reticulum organization (GO:0007029)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi cis cisterna (GO:0000137)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)	p.Q136*(1)		breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		ATAGCCTGCTGGTTGATGGTT	0.512																																						ENST00000370481.4																			1	Substitution - Nonsense(1)	p.Q136*(1)	prostate(1)	breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26						c.(406-408)Cag>Tag		guanylate binding protein 3							207.0	173.0	185.0					1																	89480252		2203	4300	6503	SO:0001587	stop_gained	2635					integral to membrane	GTP binding|GTPase activity	g.chr1:89480252G>A	BC063819	CCDS717.2	1p22.2	2008-02-05			ENSG00000117226	ENSG00000117226			4184	protein-coding gene	gene with protein product		600413				7518790	Standard	NM_018284		Approved	FLJ10961	uc001dmt.3	Q9H0R5	OTTHUMG00000010616	ENST00000370481.4:c.406C>T	1.37:g.89480252G>A	ENSP00000359512:p.Gln136*		Somatic					p.Q136*	NM_018284.2	NP_060754.2	WXS	Illumina GAIIx	Phase_I	Q9H0R5	GBP3_HUMAN		all cancers(265;0.0103)|Epithelial(280;0.0293)	4	626	-		Lung NSC(277;0.123)	136					A6NND5|A8K2C0|G5E9T1|O95890|Q69YH7|Q96FK0	Nonsense_Mutation	SNP	ENST00000370481.4	37	c.406C>T	CCDS717.2	.	.	.	.	.	.	.	.	.	.	G	26.8	4.767640	0.90020	.	.	ENSG00000117226	ENST00000370482;ENST00000370481;ENST00000235878	.	.	.	3.98	3.05	0.35203	.	0.129601	0.53938	D	0.000055	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	11.0773	0.48038	0.0:0.0:0.8141:0.1859	.	.	.	.	X	136	.	ENSP00000235878:Q136X	Q	-	1	0	GBP3	89252840	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.283000	0.43470	0.997000	0.38969	0.609000	0.83330	CAG		0.512	GBP3-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313541.3	NM_018284		24	158	24	158	---	---	---	---
SV2A	9900	broad.mit.edu	37	1	149885321	149885321	+	Silent	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr1:149885321C>T	ENST00000369146.3	-	2	562	c.72G>A	c.(70-72)aaG>aaA	p.K24K	SV2A_ENST00000369145.1_Silent_p.K24K	NM_001278719.1|NM_014849.3	NP_001265648.1|NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	24	Interaction with SYT1. {ECO:0000250}.				cellular calcium ion homeostasis (GO:0006874)|neurotransmitter transport (GO:0006836)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane transporter activity (GO:0022857)	p.K24K(1)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	TGGCCGCATGCTTTTTGACTT	0.547																																						ENST00000369146.3																			1	Substitution - coding silent(1)	p.K24K(1)	prostate(1)	breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55						c.(70-72)aaG>aaA		synaptic vesicle glycoprotein 2A	Levetiracetam(DB01202)						111.0	100.0	104.0					1																	149885321		2203	4300	6503	SO:0001819	synonymous_variant	9900				neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr1:149885321C>T	AB018279	CCDS940.1	1q21.2	2008-02-05			ENSG00000159164	ENSG00000159164			20566	protein-coding gene	gene with protein product		185860				7681585, 10611374	Standard	NM_014849		Approved	SV2, KIAA0736	uc001etg.3	Q7L0J3	OTTHUMG00000012209	ENST00000369146.3:c.72G>A	1.37:g.149885321C>T			Somatic				SV2A_ENST00000369145.1_Silent_p.K24K	p.K24K	NM_001278719.1|NM_014849.3	NP_001265648.1|NP_055664.3	WXS	Illumina GAIIx	Phase_I	Q7L0J3	SV2A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		2	562	-	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		24			Interaction with SYT1 (By similarity).		D3DUZ7|O94841|Q5QNX8|Q7Z3L6|Q8NBJ6|Q9BVZ9	Silent	SNP	ENST00000369146.3	37	c.72G>A	CCDS940.1																																																																																				0.547	SV2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033754.1			36	133	36	133	---	---	---	---
LAMC1	3915	broad.mit.edu	37	1	183106827	183106827	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr1:183106827A>C	ENST00000258341.4	+	26	4595	c.4338A>C	c.(4336-4338)gaA>gaC	p.E1446D	RP11-181K3.4_ENST00000457852.3_RNA	NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	1446	Domain II and I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.E1446D(2)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						CCAAGGCAGAAGCTGAAAGAA	0.373																																						ENST00000258341.4																			2	Substitution - Missense(2)	p.E1446D(2)	prostate(2)	NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						c.(4336-4338)gaA>gaC		laminin, gamma 1 (formerly LAMB2)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						58.0	53.0	55.0					1																	183106827		2203	4300	6503	SO:0001583	missense	3915				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	g.chr1:183106827A>C	J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"""Laminins"""	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.4338A>C	1.37:g.183106827A>C	ENSP00000258341:p.Glu1446Asp		Somatic					p.E1446D	NM_002293.3	NP_002284.3	WXS	Illumina GAIIx	Phase_I	P11047	LAMC1_HUMAN			26	4595	+			1446			Domain II and I.		Q5VYE7	Missense_Mutation	SNP	ENST00000258341.4	37	c.4338A>C	CCDS1351.1	.	.	.	.	.	.	.	.	.	.	A	12.12	1.842293	0.32513	.	.	ENSG00000135862	ENST00000258341	T	0.78003	-1.14	5.64	-4.14	0.03892	.	0.296309	0.40908	N	0.000998	T	0.50086	0.1595	N	0.21097	0.63	0.37877	D	0.930255	B	0.02656	0.0	B	0.01281	0.0	T	0.29822	-0.9999	10	0.09338	T	0.73	.	3.0482	0.06160	0.3194:0.098:0.3901:0.1925	.	1446	P11047	LAMC1_HUMAN	D	1446	ENSP00000258341:E1446D	ENSP00000258341:E1446D	E	+	3	2	LAMC1	181373450	0.019000	0.18553	0.911000	0.35937	0.997000	0.91878	-1.098000	0.03346	-0.696000	0.05098	0.533000	0.62120	GAA		0.373	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	NM_002293		8	66	8	66	---	---	---	---
IVNS1ABP	10625	broad.mit.edu	37	1	185269161	185269161	+	Silent	SNP	A	A	G			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr1:185269161A>G	ENST00000367498.3	-	13	2093	c.1471T>C	c.(1471-1473)Ttg>Ctg	p.L491L	IVNS1ABP_ENST00000459929.1_5'UTR|IVNS1ABP_ENST00000392007.3_Silent_p.L273L	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	491					negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|response to virus (GO:0009615)|RNA splicing (GO:0008380)|transcription from RNA polymerase III promoter (GO:0006383)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|spliceosomal complex (GO:0005681)|transcription factor complex (GO:0005667)		p.L491L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						CTTGTCCACAACTTTGTTACA	0.353																																						ENST00000367498.3																			1	Substitution - coding silent(1)	p.L491L(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						c.(1471-1473)Ttg>Ctg		influenza virus NS1A binding protein							114.0	103.0	107.0					1																	185269161		2203	4300	6503	SO:0001819	synonymous_variant	10625				interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex		g.chr1:185269161A>G	AB020657	CCDS1368.1	1q25.1-q31.1	2013-01-30			ENSG00000116679	ENSG00000116679		"""Kelch-like"", ""BTB/POZ domain containing"""	16951	protein-coding gene	gene with protein product	"""kelch-like family member 39"""	609209				9696811, 10048485	Standard	NM_006469		Approved	NS1-BP, HSPC068, NS-1, KIAA0850, ND1, KLHL39	uc001grl.3	Q9Y6Y0	OTTHUMG00000035384	ENST00000367498.3:c.1471T>C	1.37:g.185269161A>G			Somatic				IVNS1ABP_ENST00000392007.3_Silent_p.L273L|IVNS1ABP_ENST00000459929.1_5'UTR	p.L491L	NM_006469.4	NP_006460.2	WXS	Illumina GAIIx	Phase_I	Q9Y6Y0	NS1BP_HUMAN			13	2093	-			491					A8K8R6|Q1G4T6|Q1G4T7|Q5TF75|Q6NW38|Q7LCG2|Q9NZX0|Q9Y480	Silent	SNP	ENST00000367498.3	37	c.1471T>C	CCDS1368.1																																																																																				0.353	IVNS1ABP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085774.1	NM_006469		10	58	10	58	---	---	---	---
WNT9A	7483	broad.mit.edu	37	1	228111994	228111994	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr1:228111994C>T	ENST00000272164.5	-	3	470	c.460G>A	c.(460-462)Gca>Aca	p.A154T		NM_003395.2	NP_003386.1	O14904	WNT9A_HUMAN	wingless-type MMTV integration site family, member 9A	154					canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cornea development in camera-type eye (GO:0061303)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal joint development (GO:0072498)|embryonic skeletal system morphogenesis (GO:0048704)|iris morphogenesis (GO:0061072)|mitotic cell cycle checkpoint (GO:0007093)|multicellular organismal development (GO:0007275)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of smoothened signaling pathway (GO:0045880)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)	p.A154T(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Prostate(94;0.0405)				AGGTCGGGTGCCTCATCGCAG	0.642																																						ENST00000272164.5																			1	Substitution - Missense(1)	p.A154T(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19						c.(460-462)Gca>Aca		wingless-type MMTV integration site family, member 9A							97.0	95.0	96.0					1																	228111994		2203	4300	6503	SO:0001583	missense	7483				anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding|signal transducer activity	g.chr1:228111994C>T	AB060283	CCDS31045.1	1q42	2008-02-05	2003-03-11	2003-03-14	ENSG00000143816	ENSG00000143816		"""Wingless-type MMTV integration sites"""	12778	protein-coding gene	gene with protein product		602863	"""wingless-type MMTV integration site family, member 14"""	WNT14		9441749	Standard	NM_003395		Approved		uc001hri.2	O14904	OTTHUMG00000037592	ENST00000272164.5:c.460G>A	1.37:g.228111994C>T	ENSP00000272164:p.Ala154Thr		Somatic					p.A154T	NM_003395.2	NP_003386.1	WXS	Illumina GAIIx	Phase_I	O14904	WNT9A_HUMAN			3	470	-		Prostate(94;0.0405)	154					A6NLW2|Q2M2J3|Q5VWU0|Q96S50	Missense_Mutation	SNP	ENST00000272164.5	37	c.460G>A	CCDS31045.1	.	.	.	.	.	.	.	.	.	.	C	19.92	3.915611	0.73098	.	.	ENSG00000143816	ENST00000272164	T	0.75477	-0.94	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.54351	0.1853	N	0.11023	0.085	0.54753	D	0.999989	B	0.29341	0.242	B	0.33254	0.16	T	0.52298	-0.8594	10	0.10636	T	0.68	.	11.9921	0.53182	0.173:0.827:0.0:0.0	.	154	O14904	WNT9A_HUMAN	T	154	ENSP00000272164:A154T	ENSP00000272164:A154T	A	-	1	0	WNT9A	226178617	1.000000	0.71417	0.991000	0.47740	0.546000	0.35178	3.118000	0.50414	2.195000	0.70347	0.491000	0.48974	GCA		0.642	WNT9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091646.1	NM_003395		30	178	30	178	---	---	---	---
OBSCN	84033	broad.mit.edu	37	1	228456388	228456388	+	Silent	SNP	C	C	T	rs375439636		TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr1:228456388C>T	ENST00000422127.1	+	17	5063	c.5019C>T	c.(5017-5019)cgC>cgT	p.R1673R	OBSCN_ENST00000359599.6_Silent_p.R329R|RP5-1139B12.2_ENST00000602517.1_RNA|OBSCN_ENST00000570156.2_Silent_p.R1857R|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Silent_p.R1673R	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1673	Ig-like 17.			RV -> HM (in Ref. 1; CAC85750). {ECO:0000305}.	apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.R1673R(1)|p.R1765R(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CGAAAGTGCGCGTGGAGGCCG	0.682													C|||	1	0.000199681	0.0	0.0	5008	,	,		19980	0.0		0.001	False		,,,				2504	0.0					ENST00000570156.2																			2	Substitution - coding silent(2)	p.R1673R(1)|p.R1765R(1)	prostate(2)	NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(5569-5571)cgC>cgT		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF		C	,	1,4169		0,1,2084	54.0	58.0	57.0		5019,5019	-6.9	0.2	1		57	4,8388		0,4,4192	no	coding-synonymous,coding-synonymous	OBSCN	NM_001098623.1,NM_052843.2	,	0,5,6276	TT,TC,CC		0.0477,0.024,0.0398	,	1673/7969,1673/6621	228456388	5,12557	2085	4196	6281	SO:0001819	synonymous_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228456388C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.5019C>T	1.37:g.228456388C>T			Somatic				OBSCN_ENST00000359599.6_Silent_p.R329R|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Silent_p.R1673R|OBSCN_ENST00000422127.1_Silent_p.R1673R	p.R1857R	NM_001271223.2	NP_001258152.2	WXS	Illumina GAIIx	Phase_I	Q5VST9	OBSCN_HUMAN			19	5645	+		Prostate(94;0.0405)	845			Ig-like 18.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.5571C>T	CCDS58065.1																																																																																				0.682	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		16	154	16	154	---	---	---	---
DISC1	27185	broad.mit.edu	37	1	231830155	231830155	+	Silent	SNP	T	T	C			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr1:231830155T>C	ENST00000602281.1	+	2	704	c.651T>C	c.(649-651)ctT>ctC	p.L217L	TSNAX-DISC1_ENST00000602962.1_3'UTR|DISC1_ENST00000539444.1_Silent_p.L217L|DISC1_ENST00000439617.2_Silent_p.L217L|DISC1_ENST00000317586.4_Silent_p.L217L|DISC1_ENST00000366633.3_Silent_p.L217L|DISC1_ENST00000366636.4_Silent_p.L217L|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000537876.1_Silent_p.L217L|DISC1_ENST00000602873.1_Intron|DISC1_ENST00000535983.1_Silent_p.L217L	NM_001164542.1|NM_001164544.1	NP_001158014.1|NP_001158016.1	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	217	Interaction with MAP1A.				canonical Wnt signaling pathway (GO:0060070)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cerebral cortex radially oriented cell migration (GO:0021799)|microtubule cytoskeleton organization (GO:0000226)|mitochondrial calcium ion homeostasis (GO:0051560)|neuron migration (GO:0001764)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neuron projection development (GO:0010975)|regulation of synapse maturation (GO:0090128)|TOR signaling (GO:0031929)	cell junction (GO:0030054)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				GGCTCTCGCTTGGCTCTGCCG	0.617																																						ENST00000439617.2																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						c.(649-651)ctT>ctC		disrupted in schizophrenia 1							48.0	47.0	48.0					1																	231830155		2203	4300	6503	SO:0001819	synonymous_variant	27185				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding	g.chr1:231830155T>C	AF222980	CCDS31055.1, CCDS31056.1, CCDS53482.1, CCDS53483.1, CCDS53484.1, CCDS59205.1, CCDS59206.1, CCDS59207.1	1q42.1	2008-02-05			ENSG00000162946	ENSG00000162946			2888	protein-coding gene	gene with protein product		605210				10814723	Standard	NM_001164550		Approved		uc010pxh.2	Q9NRI5	OTTHUMG00000037835	ENST00000602281.1:c.651T>C	1.37:g.231830155T>C			Somatic				DISC1_ENST00000602873.1_Intron|TSNAX-DISC1_ENST00000602962.1_3'UTR|DISC1_ENST00000539444.1_Silent_p.L217L|DISC1_ENST00000366636.4_Silent_p.L217L|DISC1_ENST00000535983.1_Silent_p.L217L|DISC1_ENST00000537876.1_Silent_p.L217L|DISC1_ENST00000602281.1_Silent_p.L217L|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000317586.4_Silent_p.L217L|DISC1_ENST00000366633.3_Silent_p.L217L	p.L217L	NM_001164537.1|NM_001164540.1|NM_018662.2	NP_001158009.1|NP_001158012.1|NP_061132.2	WXS	Illumina GAIIx	Phase_I	Q9NRI5	DISC1_HUMAN			2	704	+		all_cancers(173;0.0208)|Prostate(94;0.0975)	217			Interaction with MAP1A.		A6NLH2|C4P091|C4P095|C4P0A1|C4P0A3|C4P0B3|C4P0B6|C4P0C1|C9J6D0|O75045|Q5VT44|Q5VT45|Q8IXJ0|Q8IXJ1|Q9BX19|Q9NRI3|Q9NRI4	Silent	SNP	ENST00000602281.1	37	c.651T>C	CCDS59205.1																																																																																				0.617	DISC1-019	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000467451.1	NM_018662		10	87	10	87	---	---	---	---
MYT1L	23040	broad.mit.edu	37	2	1926178	1926178	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr2:1926178C>T	ENST00000399161.2	-	10	2110	c.1363G>A	c.(1363-1365)Gaa>Aaa	p.E455K	MYT1L_ENST00000428368.2_Missense_Mutation_p.E455K	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	455					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.E455K(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CTCCCAGCTTCCATGGCCATC	0.532																																						ENST00000399161.2																			2	Substitution - Missense(2)	p.E455K(2)	prostate(2)	breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(1363-1365)Gaa>Aaa		myelin transcription factor 1-like							183.0	177.0	179.0					2																	1926178		2006	4158	6164	SO:0001583	missense	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1926178C>T	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.1363G>A	2.37:g.1926178C>T	ENSP00000382114:p.Glu455Lys		Somatic				MYT1L_ENST00000428368.2_Missense_Mutation_p.E455K	p.E455K	NM_015025.2	NP_055840.2	WXS	Illumina GAIIx	Phase_I	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	10	2110	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	455					A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	ENST00000399161.2	37	c.1363G>A		.	.	.	.	.	.	.	.	.	.	C	18.10	3.549300	0.65311	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	T;T	0.50548	0.78;0.74	5.91	5.91	0.95273	.	0.095891	0.64402	D	0.000001	T	0.39489	0.1080	L	0.32530	0.975	0.58432	D	0.999999	P;P	0.42692	0.682;0.787	B;B	0.39379	0.156;0.298	T	0.13019	-1.0525	10	0.11182	T	0.66	-21.8558	20.2936	0.98544	0.0:1.0:0.0:0.0	.	455;455	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	K	455;403;455	ENSP00000382114:E455K;ENSP00000396103:E455K	ENSP00000295067:E403K	E	-	1	0	MYT1L	1905185	1.000000	0.71417	0.988000	0.46212	0.373000	0.29922	7.751000	0.85126	2.801000	0.96364	0.655000	0.94253	GAA		0.532	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		32	207	32	207	---	---	---	---
BCL11A	53335	broad.mit.edu	37	2	60688396	60688396	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr2:60688396C>T	ENST00000335712.6	-	4	1878	c.1651G>A	c.(1651-1653)Gtg>Atg	p.V551M	BCL11A_ENST00000356842.4_Missense_Mutation_p.V551M|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000358510.4_Missense_Mutation_p.V517M|BCL11A_ENST00000538214.1_Missense_Mutation_p.V517M|BCL11A_ENST00000537768.1_Missense_Mutation_p.V220M|BCL11A_ENST00000359629.5_Intron	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	551					B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)	p.V551M(3)		NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			GAGCTGAGCACCATGCCCTGC	0.716			T	IGH@	B-CLL																																	ENST00000335712.6				Dom	yes		2	2p13	53335	T	B-cell CLL/lymphoma 11A			L	IGH@		B-CLL		3	Substitution - Missense(3)	p.V551M(3)	prostate(3)	NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59						c.(1651-1653)Gtg>Atg		B-cell CLL/lymphoma 11A (zinc finger protein)							22.0	22.0	22.0					2																	60688396		2197	4286	6483	SO:0001583	missense	53335				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	g.chr2:60688396C>T	AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"""Zinc fingers, C2H2-type"""	13221	protein-coding gene	gene with protein product		606557	"""ecotropic viral integration site 9"""	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.1651G>A	2.37:g.60688396C>T	ENSP00000338774:p.Val551Met		Somatic				BCL11A_ENST00000358510.4_Missense_Mutation_p.V517M|BCL11A_ENST00000538214.1_Missense_Mutation_p.V517M|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000537768.1_Missense_Mutation_p.V220M|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000356842.4_Missense_Mutation_p.V551M	p.V551M	NM_022893.3	NP_075044.2	WXS	Illumina GAIIx	Phase_I	Q9H165	BC11A_HUMAN	LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)		4	1878	-			551					D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Missense_Mutation	SNP	ENST00000335712.6	37	c.1651G>A	CCDS1862.1	.	.	.	.	.	.	.	.	.	.	C	8.459	0.854965	0.17106	.	.	ENSG00000119866	ENST00000356842;ENST00000378117;ENST00000538214;ENST00000537768;ENST00000335712;ENST00000358510	T;T;T;T;T	0.08807	3.05;3.32;3.2;3.31;3.26	5.56	4.69	0.59074	.	0.315085	0.29940	N	0.010804	T	0.08044	0.0201	N	0.22421	0.69	0.44227	D	0.997063	P;B;B;P;P	0.47604	0.846;0.379;0.189;0.898;0.898	B;B;B;B;B	0.43701	0.326;0.048;0.102;0.312;0.428	T	0.35574	-0.9783	10	0.34782	T	0.22	-2.7721	14.0428	0.64687	0.0:0.927:0.0:0.073	.	517;220;517;551;551	F5H2Y4;B4DT16;Q9H165-6;Q9H165;D9YZV9	.;.;.;BC11A_HUMAN;.	M	551;576;517;220;551;517	ENSP00000349300:V551M;ENSP00000438303:V517M;ENSP00000443712:V220M;ENSP00000338774:V551M;ENSP00000351307:V517M	ENSP00000338774:V551M	V	-	1	0	BCL11A	60541900	1.000000	0.71417	1.000000	0.80357	0.493000	0.33554	4.597000	0.61062	1.353000	0.45828	-0.142000	0.14014	GTG		0.716	BCL11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251579.2	NM_022893		4	43	4	43	---	---	---	---
UBR3	130507	broad.mit.edu	37	2	170938348	170938348	+	Silent	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr2:170938348C>T	ENST00000272793.5	+	39	5712	c.5662C>T	c.(5662-5664)Ctg>Ttg	p.L1888L	UBR3_ENST00000392631.1_Silent_p.L709L|UBR3_ENST00000418381.1_Silent_p.L1888L			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1888					embryo development (GO:0009790)|in utero embryonic development (GO:0001701)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)|suckling behavior (GO:0001967)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L741L(1)|p.L1888L(1)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						TTACAATGGGCTGTGACTCTC	0.358																																						ENST00000272793.5																			2	Substitution - coding silent(2)	p.L741L(1)|p.L1888L(1)	prostate(2)	breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						c.(5662-5664)Ctg>Ttg		ubiquitin protein ligase E3 component n-recognin 3 (putative)							132.0	132.0	132.0					2																	170938348		2203	4300	6503	SO:0001819	synonymous_variant	130507				sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr2:170938348C>T	AL834144	CCDS2238.2	2q31.1	2008-06-23	2008-06-23	2007-11-29	ENSG00000144357	ENSG00000144357		"""Ubiquitin protein ligase E3 component n-recognins"""	30467	protein-coding gene	gene with protein product		613831	"""zinc finger protein 650"""	ZNF650		17462990	Standard	NM_172070		Approved	KIAA2024, DKFZp434P117, FLJ37422	uc010zdi.2	Q6ZT12	OTTHUMG00000132229	ENST00000272793.5:c.5662C>T	2.37:g.170938348C>T			Somatic				UBR3_ENST00000392631.1_Silent_p.L709L|UBR3_ENST00000418381.1_Silent_p.L1888L	p.L1888L			WXS	Illumina GAIIx	Phase_I	Q6ZT12	UBR3_HUMAN			39	5712	+			1888					B4DZR7|Q2KHN5|Q6ZR55|Q6ZSC2|Q8IVE7|Q8ND96	Silent	SNP	ENST00000272793.5	37	c.5662C>T																																																																																					0.358	UBR3-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255290.2	NM_172070		8	113	8	113	---	---	---	---
TLK1	9874	broad.mit.edu	37	2	171863509	171863509	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr2:171863509C>A	ENST00000431350.2	-	15	1885	c.1481G>T	c.(1480-1482)aGa>aTa	p.R494I	TLK1_ENST00000442919.2_Missense_Mutation_p.R446I|TLK1_ENST00000360843.3_Missense_Mutation_p.R515I|TLK1_ENST00000521943.1_Missense_Mutation_p.R446I|TLK1_ENST00000434911.2_Missense_Mutation_p.R398I			Q9UKI8	TLK1_HUMAN	tousled-like kinase 1	494	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|intracellular protein transport (GO:0006886)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						CTTCTCATCTCTCCAGCTTTT	0.294																																						ENST00000442919.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						c.(1336-1338)aGa>aTa		tousled-like kinase 1							88.0	83.0	84.0					2																	171863509		2200	4295	6495	SO:0001583	missense	9874				cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:171863509C>A	AB004885	CCDS2241.1, CCDS46447.1, CCDS46448.1	2q31.1	2010-04-19			ENSG00000198586	ENSG00000198586			11841	protein-coding gene	gene with protein product		608438				9427565, 12660173	Standard	NM_012290		Approved	KIAA0137, PKU-BETA	uc002ugp.2	Q9UKI8	OTTHUMG00000132243	ENST00000431350.2:c.1481G>T	2.37:g.171863509C>A	ENSP00000411099:p.Arg494Ile		Somatic				TLK1_ENST00000434911.2_Missense_Mutation_p.R398I|TLK1_ENST00000521943.1_Missense_Mutation_p.R446I|TLK1_ENST00000431350.2_Missense_Mutation_p.R494I|TLK1_ENST00000360843.3_Missense_Mutation_p.R515I	p.R446I	NM_012290.4	NP_036422.3	WXS	Illumina GAIIx	Phase_I	Q9UKI8	TLK1_HUMAN			15	1952	-			494					B3KR15|B4DX87|Q14150|Q8N591|Q9NYH2|Q9Y4F6	Missense_Mutation	SNP	ENST00000431350.2	37	c.1337G>T	CCDS2241.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.722188	0.89298	.	.	ENSG00000198586	ENST00000442919;ENST00000431350;ENST00000360843;ENST00000521943;ENST00000434911	T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16	4.95	4.95	0.65309	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.70954	0.3283	L	0.39467	1.215	0.80722	D	1	P;P;D	0.57571	0.707;0.917;0.98	P;P;P	0.61070	0.61;0.614;0.883	T	0.74494	-0.3647	10	0.87932	D	0	.	18.616	0.91303	0.0:1.0:0.0:0.0	.	398;515;494	B4DX87;Q9UKI8-2;Q9UKI8	.;.;TLK1_HUMAN	I	446;494;515;446;398	ENSP00000402165:R446I;ENSP00000411099:R494I;ENSP00000354089:R515I;ENSP00000428113:R446I;ENSP00000409222:R398I	ENSP00000354089:R515I	R	-	2	0	TLK1	171571755	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.815000	0.86186	2.481000	0.83766	0.454000	0.30748	AGA		0.294	TLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255314.1	NM_012290		6	60	6	60	---	---	---	---
ALS2CL	259173	broad.mit.edu	37	3	46724745	46724745	+	Silent	SNP	C	C	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr3:46724745C>A	ENST00000318962.4	-	10	1067	c.984G>T	c.(982-984)ctG>ctT	p.L328L	ALS2CL_ENST00000415953.1_Silent_p.L328L	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	328					endosome organization (GO:0007032)|protein localization (GO:0008104)	cytoplasmic membrane-bounded vesicle (GO:0016023)	GTPase activator activity (GO:0005096)|identical protein binding (GO:0042802)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		GGCCAGCCCCCAGCACGGGGA	0.672																																						ENST00000318962.4																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29						c.(982-984)ctG>ctT		ALS2 C-terminal like							17.0	21.0	19.0					3																	46724745		2203	4299	6502	SO:0001819	synonymous_variant	259173				endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr3:46724745C>A	AK074118	CCDS2743.1, CCDS43080.1	3p21.31	2008-01-30			ENSG00000178038	ENSG00000178038			20605	protein-coding gene	gene with protein product		612402				15388334, 8889548, 17239822	Standard	NM_147129		Approved	FLJ36525, RN49018, DKFZp686I0110	uc003cqb.2	Q60I27	OTTHUMG00000128673	ENST00000318962.4:c.984G>T	3.37:g.46724745C>A			Somatic				ALS2CL_ENST00000415953.1_Silent_p.L328L	p.L328L	NM_147129.3	NP_667340.2	WXS	Illumina GAIIx	Phase_I	Q60I27	AL2CL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)	10	1067	-			328					Q32MA1|Q6AI56|Q6ZNC5|Q6ZNC7|Q6ZTL4|Q86YD2|Q8N9U1|Q8NAL7	Silent	SNP	ENST00000318962.4	37	c.984G>T	CCDS2743.1																																																																																				0.672	ALS2CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250567.3	NM_147129		3	22	3	22	---	---	---	---
APPL1	26060	broad.mit.edu	37	3	57303570	57303570	+	Splice_Site	SNP	A	A	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr3:57303570A>T	ENST00000288266.3	+	22	2132	c.1985A>T	c.(1984-1986)gAc>gTc	p.D662V	ASB14_ENST00000389601.3_3'UTR|ASB14_ENST00000487349.1_3'UTR	NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1	662					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|insulin receptor signaling pathway (GO:0008286)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|regulation of glucose import (GO:0046324)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|vesicle membrane (GO:0012506)	identical protein binding (GO:0042802)|protein kinase B binding (GO:0043422)	p.D662V(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		TTCCACTAGGACTTGGAAGAA	0.423																																						ENST00000288266.3																			1	Substitution - Missense(1)	p.D662V(1)	prostate(1)	breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27						c.(1984-1986)gAc>gTc		adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1							93.0	89.0	90.0					3																	57303570		2203	4300	6503	SO:0001630	splice_region_variant	26060				apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding	g.chr3:57303570A>T	AB037849	CCDS2882.1	3p21.1-p14.3	2013-01-11			ENSG00000157500	ENSG00000157500		"""Pleckstrin homology (PH) domain containing"""	24035	protein-coding gene	gene with protein product		604299				10490823, 17030088	Standard	NM_012096		Approved	APPL	uc003dio.3	Q9UKG1	OTTHUMG00000133756	ENST00000288266.3:c.1984-1A>T	3.37:g.57303570A>T			Somatic				ASB14_ENST00000487349.1_3'UTR|ASB14_ENST00000389601.3_3'UTR	p.D662V	NM_012096.2	NP_036228.1	WXS	Illumina GAIIx	Phase_I	Q9UKG1	DP13A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)	22	2132	+			662					Q9P2B9	Splice_Site	SNP	ENST00000288266.3	37	c.1985A>T	CCDS2882.1	.	.	.	.	.	.	.	.	.	.	A	19.51	3.841446	0.71488	.	.	ENSG00000157500	ENST00000288266	T	0.11821	2.74	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.28267	0.0698	L	0.32530	0.975	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	T	0.01692	-1.1294	10	0.87932	D	0	.	16.1611	0.81712	1.0:0.0:0.0:0.0	.	662	Q9UKG1	DP13A_HUMAN	V	662	ENSP00000288266:D662V	ENSP00000288266:D662V	D	+	2	0	APPL1	57278610	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	8.873000	0.92357	2.272000	0.75746	0.460000	0.39030	GAC		0.423	APPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258196.2	NM_012096	Missense_Mutation	7	102	7	102	---	---	---	---
PLD1	5337	broad.mit.edu	37	3	171427351	171427351	+	Splice_Site	SNP	A	A	G			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr3:171427351A>G	ENST00000351298.4	-	10	1186	c.1060T>C	c.(1060-1062)Tgg>Cgg	p.W354R	PLD1_ENST00000356327.5_Splice_Site_p.W354R|PLD1_ENST00000340989.4_Splice_Site_p.W354R|PLD1_ENST00000342215.6_Splice_Site_p.W354R	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	354					chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)	p.W354R(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	ATAACTTACCATTTAGCTAAA	0.378																																					NSCLC(149;2174 3517 34058)	ENST00000356327.5																			1	Substitution - Missense(1)	p.W354R(1)	prostate(1)	breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63						c.(1060-1062)Tgg>Cgg		phospholipase D1, phosphatidylcholine-specific	Choline(DB00122)						136.0	126.0	129.0					3																	171427351		2203	4300	6503	SO:0001630	splice_region_variant	5337				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	g.chr3:171427351A>G	U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"""Pleckstrin homology (PH) domain containing"""	9067	protein-coding gene	gene with protein product	"""choline phosphatase 1"""	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.1061+1T>C	3.37:g.171427351A>G			Somatic				PLD1_ENST00000342215.6_Splice_Site_p.W354R|PLD1_ENST00000351298.4_Splice_Site_p.W354R|PLD1_ENST00000340989.4_Splice_Site_p.W354R	p.W354R	NM_001130081.2	NP_001123553.1	WXS	Illumina GAIIx	Phase_I	Q13393	PLD1_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		10	1130	-	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		354						Splice_Site	SNP	ENST00000351298.4	37	c.1060T>C	CCDS3216.1	.	.	.	.	.	.	.	.	.	.	A	17.56	3.420851	0.62622	.	.	ENSG00000075651	ENST00000356327;ENST00000351298;ENST00000342215;ENST00000340989	T;T;T;T	0.22945	1.93;1.93;1.93;1.93	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.61714	0.2369	M	0.93854	3.465	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.989;0.998	T	0.72950	-0.4136	10	0.87932	D	0	-10.796	14.5911	0.68365	1.0:0.0:0.0:0.0	.	377;354	Q59EA4;Q13393	.;PLD1_HUMAN	R	354	ENSP00000348681:W354R;ENSP00000342793:W354R;ENSP00000339936:W354R;ENSP00000340326:W354R	ENSP00000340326:W354R	W	-	1	0	PLD1	172910045	1.000000	0.71417	1.000000	0.80357	0.447000	0.32167	8.587000	0.90810	2.080000	0.62538	0.460000	0.39030	TGG		0.378	PLD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346730.2	NM_002662	Missense_Mutation	10	106	10	106	---	---	---	---
ST6GAL1	6480	broad.mit.edu	37	3	186793469	186793469	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr3:186793469G>T	ENST00000169298.3	+	8	1773	c.1099G>T	c.(1099-1101)Ggt>Tgt	p.G367C	ST6GAL1_ENST00000457772.2_Missense_Mutation_p.G136C|ST6GAL1_ENST00000448044.1_Missense_Mutation_p.G367C	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 1	367					cellular protein metabolic process (GO:0044267)|humoral immune response (GO:0006959)|N-acetylneuraminate metabolic process (GO:0006054)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)|sialyltransferase activity (GO:0008373)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)		CTGCACGATGGGTGCCTACCA	0.517																																						ENST00000169298.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7						c.(1099-1101)Ggt>Tgt		ST6 beta-galactosamide alpha-2,6-sialyltranferase 1							118.0	102.0	107.0					3																	186793469		2203	4300	6503	SO:0001583	missense	6480				humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	g.chr3:186793469G>T	X62822	CCDS3285.1, CCDS46973.1	3q27-q28	2013-02-26	2003-01-14	2005-02-07	ENSG00000073849	ENSG00000073849	2.4.99.1		10860	protein-coding gene	gene with protein product	"""ST6Gal I"""	109675	"""sialyltransferase 1 (beta-galactoside alpha-2,6-sialytransferase)"""	SIAT1		2408023	Standard	NM_003032		Approved		uc003frd.3	P15907	OTTHUMG00000156500	ENST00000169298.3:c.1099G>T	3.37:g.186793469G>T	ENSP00000169298:p.Gly367Cys		Somatic				ST6GAL1_ENST00000448044.1_Missense_Mutation_p.G367C|ST6GAL1_ENST00000457772.2_Missense_Mutation_p.G136C	p.G367C	NM_173216.2	NP_775323.1	WXS	Illumina GAIIx	Phase_I	P15907	SIAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)	8	1773	+	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		367					A8KA14|B2R513|D3DNV3	Missense_Mutation	SNP	ENST00000169298.3	37	c.1099G>T	CCDS3285.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.705674	0.89018	.	.	ENSG00000073849	ENST00000169298;ENST00000457772;ENST00000448044	T;T;T	0.31247	1.5;1.5;1.5	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.67363	0.2885	M	0.93420	3.415	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75274	-0.3375	10	0.87932	D	0	-25.8397	17.8009	0.88586	0.0:0.0:1.0:0.0	.	367	P15907	SIAT1_HUMAN	C	367;136;367	ENSP00000169298:G367C;ENSP00000412221:G136C;ENSP00000389337:G367C	ENSP00000169298:G367C	G	+	1	0	ST6GAL1	188276163	1.000000	0.71417	1.000000	0.80357	0.583000	0.36354	9.796000	0.99103	2.884000	0.98904	0.655000	0.94253	GGT		0.517	ST6GAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344399.1	NM_173216		5	65	5	65	---	---	---	---
BOD1L1	259282	broad.mit.edu	37	4	13604158	13604158	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr4:13604158T>C	ENST00000040738.5	-	10	4501	c.4366A>G	c.(4366-4368)Aaa>Gaa	p.K1456E		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	1456						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.K1456E(1)									TGCTTAAGTTTGACAGTTTCA	0.383																																						ENST00000040738.5																			1	Substitution - Missense(1)	p.K1456E(1)	prostate(1)								c.(4366-4368)Aaa>Gaa		biorientation of chromosomes in cell division 1-like 1							91.0	78.0	83.0					4																	13604158		2203	4300	6503	SO:0001583	missense	259282						DNA binding	g.chr4:13604158T>C	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.4366A>G	4.37:g.13604158T>C	ENSP00000040738:p.Lys1456Glu		Somatic					p.K1456E	NM_148894.2	NP_683692.2	WXS	Illumina GAIIx	Phase_I	Q8NFC6	BOD1L_HUMAN			10	4501	-			1456					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	c.4366A>G	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	T	0.089	-1.171052	0.01660	.	.	ENSG00000038219	ENST00000040738	T	0.06142	3.34	5.37	0.291	0.15732	.	1.235580	0.05810	N	0.613862	T	0.01905	0.0060	N	0.01874	-0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40979	-0.9534	10	0.02654	T	1	-0.4281	1.8741	0.03214	0.1235:0.2333:0.3626:0.2807	.	1456	Q8NFC6	BOD1L_HUMAN	E	1456	ENSP00000040738:K1456E	ENSP00000040738:K1456E	K	-	1	0	BOD1L	13213256	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.463000	0.06696	-0.317000	0.08677	-1.367000	0.01198	AAA		0.383	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		11	62	11	62	---	---	---	---
LRIT3	345193	broad.mit.edu	37	4	110791704	110791704	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr4:110791704G>C	ENST00000594814.1	+	4	1799	c.1799G>C	c.(1798-1800)tGt>tCt	p.C600S	LRIT3_ENST00000409621.2_Missense_Mutation_p.C417S|LRIT3_ENST00000327908.3_Missense_Mutation_p.C417S|LRIT3_ENST00000379920.3_Missense_Mutation_p.C555S	NM_198506.3	NP_940908.3	Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	600					regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		CCATTGATTTGTTTCTTGTTG	0.383																																						ENST00000327908.3																			0				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16						c.(1249-1251)tGt>tCt		leucine-rich repeat, immunoglobulin-like and transmembrane domains 3							168.0	165.0	166.0					4																	110791704		2203	4300	6503	SO:0001583	missense	345193					integral to membrane		g.chr4:110791704G>C	AK126648	CCDS3688.2, CCDS3688.3	4q25	2014-01-28	2007-06-19		ENSG00000183423	ENSG00000183423		"""Immunoglobulin superfamily / I-set domain containing"""	24783	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 4"""	615004					Standard	NM_198506		Approved	FLJ44691, FIGLER4, CSNB1F	uc031sgv.1	Q3SXY7	OTTHUMG00000132043	ENST00000594814.1:c.1799G>C	4.37:g.110791704G>C	ENSP00000469759:p.Cys600Ser		Somatic				LRIT3_ENST00000594814.1_Missense_Mutation_p.C600S|LRIT3_ENST00000379920.3_Missense_Mutation_p.C555S|LRIT3_ENST00000409621.2_Missense_Mutation_p.C417S	p.C417S			WXS	Illumina GAIIx	Phase_I	Q3SXY7	LRIT3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0011)	4	2014	+			555					C9J1C2|Q6ZTG1	Missense_Mutation	SNP	ENST00000594814.1	37	c.1250G>C	CCDS3688.3	.	.	.	.	.	.	.	.	.	.	G	11.57	1.676622	0.29783	.	.	ENSG00000183423	ENST00000327908;ENST00000379920;ENST00000409621	T;T;T	0.57273	0.41;0.62;0.41	5.37	2.05	0.26809	.	0.340574	0.35320	N	0.003295	T	0.40956	0.1138	L	0.36672	1.1	0.28045	N	0.933604	B;B	0.32467	0.097;0.372	B;B	0.27500	0.016;0.08	T	0.40117	-0.9580	10	0.62326	D	0.03	.	14.1288	0.65240	0.0:0.0:0.2016:0.7984	.	555;417	Q3SXY7;Q3SXY7-2	LRIT3_HUMAN;.	S	417;555;417	ENSP00000328222:C417S;ENSP00000369252:C555S;ENSP00000386734:C417S	ENSP00000328222:C417S	C	+	2	0	LRIT3	111011153	1.000000	0.71417	0.999000	0.59377	0.856000	0.48823	3.369000	0.52365	0.519000	0.28406	-0.169000	0.13324	TGT		0.383	LRIT3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335270.2	NM_198506		7	101	7	101	---	---	---	---
PCDHA2	56146	broad.mit.edu	37	5	140176233	140176233	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr5:140176233G>A	ENST00000526136.1	+	1	1684	c.1684G>A	c.(1684-1686)Gcg>Acg	p.A562T	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.A562T|PCDHA2_ENST00000520672.2_Missense_Mutation_p.A562T|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	562	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A562T(4)		NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAACGACAACGCGCCGGCACT	0.697																																						ENST00000526136.1																			4	Substitution - Missense(4)	p.A562T(4)	large_intestine(2)|prostate(2)	NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71						c.(1684-1686)Gcg>Acg									86.0	84.0	85.0					5																	140176233		2203	4298	6501	SO:0001583	missense	56146							g.chr5:140176233G>A	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	8668	other	complex locus constituent	"""KIAA0345-like 12"""	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.1684G>A	5.37:g.140176233G>A	ENSP00000431748:p.Ala562Thr		Somatic				PCDHA2_ENST00000378132.1_Missense_Mutation_p.A562T|PCDHA2_ENST00000520672.2_Missense_Mutation_p.A562T|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron	p.A562T	NM_018905.2	NP_061728.1	WXS	Illumina GAIIx	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1684	+								O75287|Q9BTV3	Missense_Mutation	SNP	ENST00000526136.1	37	c.1684G>A	CCDS54914.1	.	.	.	.	.	.	.	.	.	.	g	19.52	3.842971	0.71488	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.43294	0.95;0.95;0.95	4.05	3.1	0.35709	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.39475	U	0.001345	T	0.52661	0.1748	M	0.65975	2.015	0.32499	N	0.539106	D;P;D	0.60160	0.965;0.609;0.987	P;B;P	0.54140	0.743;0.082;0.743	T	0.67133	-0.5747	10	0.54805	T	0.06	.	13.8621	0.63566	0.0:0.1536:0.8464:0.0	.	562;562;562	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	T	562	ENSP00000430584:A562T;ENSP00000367372:A562T;ENSP00000431748:A562T	ENSP00000367372:A562T	A	+	1	0	PCDHA2	140156417	0.887000	0.30362	0.998000	0.56505	0.724000	0.41520	1.626000	0.37039	1.989000	0.58080	0.644000	0.83932	GCG		0.697	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		13	216	13	216	---	---	---	---
PCDHA13	56136	broad.mit.edu	37	5	140263967	140263967	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr5:140263967G>A	ENST00000289272.2	+	1	2114	c.2114G>A	c.(2113-2115)tGc>tAc	p.C705Y	PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.C705Y|PCDHA10_ENST00000307360.5_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	705					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTGCCATCTGCGCGGTGTCC	0.662																																					Melanoma(147;1739 1852 5500 27947 37288)	ENST00000289272.2																			0				NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95						c.(2113-2115)tGc>tAc									86.0	73.0	77.0					5																	140263967		2203	4300	6503	SO:0001583	missense	56136							g.chr5:140263967G>A	AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.2114G>A	5.37:g.140263967G>A	ENSP00000289272:p.Cys705Tyr		Somatic				PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.C705Y|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron	p.C705Y	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	WXS	Illumina GAIIx	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2114	+								O75277	Missense_Mutation	SNP	ENST00000289272.2	37	c.2114G>A	CCDS4240.1	.	.	.	.	.	.	.	.	.	.	G	15.54	2.862445	0.51482	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.20881	2.04;2.04	4.08	4.08	0.47627	.	.	.	.	.	T	0.54515	0.1863	H	0.95402	3.665	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.984;0.971;0.998	T	0.64339	-0.6431	9	0.87932	D	0	.	8.7076	0.34365	0.0867:0.1546:0.7587:0.0	.	705;705;705	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	Y	705	ENSP00000386821:C705Y;ENSP00000289272:C705Y	ENSP00000289272:C705Y	C	+	2	0	PCDHA13	140244151	0.170000	0.23016	1.000000	0.80357	0.783000	0.44284	1.144000	0.31565	2.084000	0.62774	0.655000	0.94253	TGC		0.662	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904		12	204	12	204	---	---	---	---
FILIP1	27145	broad.mit.edu	37	6	76022502	76022502	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr6:76022502C>T	ENST00000237172.7	-	5	3376	c.3046G>A	c.(3046-3048)Gca>Aca	p.A1016T	FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000393004.2_Missense_Mutation_p.A1016T|FILIP1_ENST00000370020.1_Missense_Mutation_p.A917T	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	1016								p.A1016T(1)		breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						GCTGGTGCTGCTGATGTAGAC	0.488																																						ENST00000393004.2																			1	Substitution - Missense(1)	p.A1016T(1)	prostate(1)	breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						c.(3046-3048)Gca>Aca		filamin A interacting protein 1							140.0	139.0	139.0					6																	76022502		2203	4300	6503	SO:0001583	missense	27145							g.chr6:76022502C>T	AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.3046G>A	6.37:g.76022502C>T	ENSP00000237172:p.Ala1016Thr		Somatic				FILIP1_ENST00000237172.7_Missense_Mutation_p.A1016T|FILIP1_ENST00000370020.1_Missense_Mutation_p.A917T|FILIP1_ENST00000498523.1_5'UTR	p.A1016T			WXS	Illumina GAIIx	Phase_I	Q7Z7B0	FLIP1_HUMAN			5	3267	-			1016					B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	ENST00000237172.7	37	c.3046G>A	CCDS4984.1	.	.	.	.	.	.	.	.	.	.	C	15.84	2.951178	0.53186	.	.	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.17528	2.27;2.27;2.27	6.03	6.03	0.97812	.	0.104145	0.64402	D	0.000003	T	0.08582	0.0213	L	0.38531	1.155	0.58432	D	0.999997	B;B;B	0.26672	0.156;0.006;0.011	B;B;B	0.23852	0.049;0.016;0.037	T	0.17471	-1.0368	10	0.19147	T	0.46	-15.3145	20.5568	0.99304	0.0:1.0:0.0:0.0	.	1016;1016;1016	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	T	1016;1016;917	ENSP00000376728:A1016T;ENSP00000237172:A1016T;ENSP00000359037:A917T	ENSP00000237172:A1016T	A	-	1	0	FILIP1	76079222	0.716000	0.27956	0.777000	0.31699	0.978000	0.69477	1.493000	0.35605	2.861000	0.98227	0.655000	0.94253	GCA		0.488	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179		27	187	27	187	---	---	---	---
ASB4	51666	broad.mit.edu	37	7	95157409	95157409	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr7:95157409A>G	ENST00000325885.5	+	3	843	c.772A>G	c.(772-774)Aag>Gag	p.K258E	ASB4_ENST00000428113.1_Missense_Mutation_p.K258E	NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box containing 4	258					intracellular signal transduction (GO:0035556)|positive regulation of vasculogenesis (GO:2001214)|protein autoubiquitination (GO:0051865)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)	p.K258E(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			TCCCCTCCACAAGGCAGCCTG	0.557											OREG0018172	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000325885.5																			1	Substitution - Missense(1)	p.K258E(1)	prostate(1)	central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20						c.(772-774)Aag>Gag		ankyrin repeat and SOCS box containing 4							79.0	69.0	72.0					7																	95157409		2203	4300	6503	SO:0001583	missense	51666				intracellular signal transduction			g.chr7:95157409A>G	AF156779	CCDS5641.1, CCDS5642.1	7q21-q22	2013-01-10	2011-01-25		ENSG00000005981	ENSG00000005981		"""Ankyrin repeat domain containing"""	16009	protein-coding gene	gene with protein product		605761	"""ankyrin repeat and SOCS box-containing 4"""				Standard	NM_145872		Approved	ASB-4	uc011kij.2	Q9Y574	OTTHUMG00000153960	ENST00000325885.5:c.772A>G	7.37:g.95157409A>G	ENSP00000321388:p.Lys258Glu		Somatic	OREG0018172	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1310	ASB4_ENST00000428113.1_Missense_Mutation_p.K258E	p.K258E	NM_016116.2	NP_057200.1	WXS	Illumina GAIIx	Phase_I	Q9Y574	ASB4_HUMAN	STAD - Stomach adenocarcinoma(171;0.0151)		3	843	+	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		258					A4D1H6|O14586|Q14D68|Q8TBT2	Missense_Mutation	SNP	ENST00000325885.5	37	c.772A>G	CCDS5641.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.005449	0.74932	.	.	ENSG00000005981	ENST00000325885;ENST00000428113	T;T	0.64085	-0.08;-0.08	4.94	4.94	0.65067	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.69780	0.3149	L	0.37630	1.12	0.80722	D	1	P;D	0.76494	0.781;0.999	B;D	0.76575	0.248;0.988	T	0.67352	-0.5692	10	0.30854	T	0.27	-17.3408	15.3184	0.74102	1.0:0.0:0.0:0.0	.	258;258	Q9Y574;Q14D68	ASB4_HUMAN;.	E	258	ENSP00000321388:K258E;ENSP00000397070:K258E	ENSP00000321388:K258E	K	+	1	0	ASB4	94995345	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.256000	0.78350	2.172000	0.68678	0.379000	0.24179	AAG		0.557	ASB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333225.2	NM_016116		6	99	6	99	---	---	---	---
OR2A25	392138	broad.mit.edu	37	7	143771567	143771567	+	Silent	SNP	G	G	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr7:143771567G>A	ENST00000408898.2	+	1	293	c.255G>A	c.(253-255)ctG>ctA	p.L85L		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	85						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L85L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					TGAACCTCCTGCATCCAGCCA	0.552																																						ENST00000408898.2																			1	Substitution - coding silent(1)	p.L85L(1)	prostate(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24						c.(253-255)ctG>ctA		olfactory receptor, family 2, subfamily A, member 25							76.0	81.0	79.0					7																	143771567		2203	4300	6503	SO:0001819	synonymous_variant	392138				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143771567G>A		CCDS43669.1	7q35	2012-08-09		2004-03-10	ENSG00000221933	ENSG00000221933		"""GPCR / Class A : Olfactory receptors"""	19562	protein-coding gene	gene with protein product				OR2A25P, OR2A27			Standard	NM_001004488		Approved		uc011ktx.2	A4D2G3	OTTHUMG00000158013	ENST00000408898.2:c.255G>A	7.37:g.143771567G>A			Somatic					p.L85L	NM_001004488.1	NP_001004488.1	WXS	Illumina GAIIx	Phase_I	A4D2G3	O2A25_HUMAN			1	293	+	Melanoma(164;0.0783)		85					B2RNC9	Silent	SNP	ENST00000408898.2	37	c.255G>A	CCDS43669.1																																																																																				0.552	OR2A25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350000.1			7	122	7	122	---	---	---	---
DLGAP2	9228	broad.mit.edu	37	8	1616604	1616604	+	Silent	SNP	C	C	T	rs373983764		TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr8:1616604C>T	ENST00000421627.2	+	6	1814	c.1680C>T	c.(1678-1680)gaC>gaT	p.D560D		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	639					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CCACCCAGGACGCCTACCAGG	0.632																																						ENST00000421627.2																			0				breast(1)|endometrium(6)|lung(31)|prostate(3)	41						c.(1678-1680)gaC>gaT		discs, large (Drosophila) homolog-associated protein 2		C		1,4097		0,1,2048	13.0	18.0	17.0		1680	-6.6	0.9	8		17	0,8388		0,0,4194	no	coding-synonymous	DLGAP2	NM_004745.3		0,1,6242	TT,TC,CC		0.0,0.0244,0.0080		560/976	1616604	1,12485	2049	4194	6243	SO:0001819	synonymous_variant	9228				neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	g.chr8:1616604C>T	AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"""discs, large (Drosophila) homolog-associated protein 2"""			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.1680C>T	8.37:g.1616604C>T			Somatic					p.D560D	NM_004745.3	NP_004736.2	WXS	Illumina GAIIx	Phase_I	Q9P1A6	DLGP2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)	6	1814	+		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)	639					A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Silent	SNP	ENST00000421627.2	37	c.1680C>T	CCDS47760.1	.	.	.	.	.	.	.	.	.	.	C	9.611	1.131372	0.21041	2.44E-4	0.0	ENSG00000198010	ENST00000520901	.	.	.	5.53	-6.62	0.01813	.	.	.	.	.	T	0.63651	0.2529	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67055	-0.5767	4	.	.	.	-9.65	16.6959	0.85335	0.0:0.4428:0.0:0.5572	.	.	.	.	M	577	.	.	T	+	2	0	DLGAP2	1604011	0.001000	0.12720	0.906000	0.35671	0.983000	0.72400	-1.701000	0.01903	-1.198000	0.02669	-1.152000	0.01820	ACG		0.632	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	NM_004745		4	20	4	20	---	---	---	---
PPP1R3B	79660	broad.mit.edu	37	8	8998482	8998482	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr8:8998482C>T	ENST00000310455.3	-	2	830	c.680G>A	c.(679-681)gGc>gAc	p.G227D	RP11-10A14.3_ENST00000522057.1_RNA|RP11-10A14.3_ENST00000520017.1_RNA|PPP1R3B_ENST00000519699.1_Missense_Mutation_p.G227D	NM_001201329.1|NM_024607.3	NP_001188258.1|NP_078883.2	Q86XI6	PPR3B_HUMAN	protein phosphatase 1, regulatory subunit 3B	227	CBM21. {ECO:0000255|PROSITE- ProRule:PRU00491}.				glycogen metabolic process (GO:0005977)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of glycogen catabolic process (GO:0005981)	glycogen granule (GO:0042587)|intracellular membrane-bounded organelle (GO:0043231)|protein phosphatase type 1 complex (GO:0000164)	protein phosphatase regulator activity (GO:0019888)	p.G227D(2)		endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	12				COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)		ATAGTTCTTGCCTCTGTTGCT	0.483																																						ENST00000310455.3																			2	Substitution - Missense(2)	p.G227D(2)	prostate(2)	endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	12						c.(679-681)gGc>gAc		protein phosphatase 1, regulatory subunit 3B							204.0	187.0	193.0					8																	8998482		2203	4300	6503	SO:0001583	missense	79660				glycogen metabolic process			g.chr8:8998482C>T	AK024067	CCDS5973.1	8p23.1	2012-04-17	2011-10-04		ENSG00000173281	ENSG00000173281		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14942	protein-coding gene	gene with protein product	"""PP1 subunit R4"", ""hepatic glycogen-targeting subunit, G(L)"""	610541	"""protein phosphatase 1, regulatory (inhibitor) subunit 3B"""			11948623, 17555403	Standard	NM_024607		Approved	GL, FLJ14005, PPP1R4	uc003wsn.4	Q86XI6	OTTHUMG00000129329	ENST00000310455.3:c.680G>A	8.37:g.8998482C>T	ENSP00000308318:p.Gly227Asp		Somatic				PPP1R3B_ENST00000519699.1_Missense_Mutation_p.G227D	p.G227D	NM_001201329.1|NM_024607.3	NP_001188258.1|NP_078883.2	WXS	Illumina GAIIx	Phase_I	Q86XI6	PPR3B_HUMAN		COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)	2	830	-			227			CBM21.		B3KTV3|Q9H812	Missense_Mutation	SNP	ENST00000310455.3	37	c.680G>A	CCDS5973.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.676479	0.88445	.	.	ENSG00000173281	ENST00000310455;ENST00000519699	T;T	0.66280	-0.2;-0.2	5.93	5.93	0.95920	Putative phosphatase regulatory subunit (2);	0.000000	0.85682	D	0.000000	D	0.82907	0.5139	M	0.86420	2.815	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84325	0.0518	10	0.62326	D	0.03	-53.059	19.3319	0.94293	0.0:1.0:0.0:0.0	.	227	Q86XI6	PPR3B_HUMAN	D	227	ENSP00000308318:G227D;ENSP00000428642:G227D	ENSP00000308318:G227D	G	-	2	0	PPP1R3B	9035892	1.000000	0.71417	0.989000	0.46669	0.713000	0.41058	7.818000	0.86416	2.815000	0.96918	0.561000	0.74099	GGC		0.483	PPP1R3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251472.1	NM_024607		19	128	19	128	---	---	---	---
PXDNL	137902	broad.mit.edu	37	8	52321017	52321017	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr8:52321017C>T	ENST00000356297.4	-	17	3267	c.3167G>A	c.(3166-3168)gGc>gAc	p.G1056D	PXDNL_ENST00000543296.1_Missense_Mutation_p.G1056D	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1056					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)			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)				TAATGTGTGGCCAAATCTAAA	0.493																																						ENST00000356297.4																			0				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						c.(3166-3168)gGc>gAc		peroxidasin homolog (Drosophila)-like							44.0	47.0	46.0					8																	52321017		1943	4154	6097	SO:0001583	missense	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52321017C>T		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.3167G>A	8.37:g.52321017C>T	ENSP00000348645:p.Gly1056Asp		Somatic				PXDNL_ENST00000543296.1_Missense_Mutation_p.G1056D	p.G1056D	NM_144651.4	NP_653252	WXS	Illumina GAIIx	Phase_I	A1KZ92	PXDNL_HUMAN			17	3267	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	1056					B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	c.3167G>A	CCDS47855.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.94|13.94	2.385883|2.385883	0.42308|0.42308	.|.	.|.	ENSG00000147485|ENSG00000147485	ENST00000522933|ENST00000356297;ENST00000543296	.|T;T	.|0.77750	.|-1.12;-1.12	3.82|3.82	3.82|3.82	0.43975|0.43975	.|.	.|0.000000	.|0.53938	.|D	.|0.000058	D|D	0.92440|0.92440	0.7600|0.7600	H|H	0.99042|0.99042	4.41|4.41	0.47621|0.47621	D|D	0.999471|0.999471	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	D|D	0.94805|0.94805	0.7974|0.7974	5|10	.|0.87932	.|D	.|0	.|.	13.1684|13.1684	0.59583|0.59583	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1056	.|A1KZ92	.|PXDNL_HUMAN	T|D	175|1056	.|ENSP00000348645:G1056D;ENSP00000444865:G1056D	.|ENSP00000348645:G1056D	A|G	-|-	1|2	0|0	PXDNL|PXDNL	52483570|52483570	0.998000|0.998000	0.40836|0.40836	0.150000|0.150000	0.22450|0.22450	0.018000|0.018000	0.09664|0.09664	3.946000|3.946000	0.56644|0.56644	1.653000|1.653000	0.50694|0.50694	0.655000|0.655000	0.94253|0.94253	GCC|GGC		0.493	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		4	40	4	40	---	---	---	---
VPS13B	157680	broad.mit.edu	37	8	100454735	100454735	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr8:100454735G>A	ENST00000358544.2	+	23	3428	c.3317G>A	c.(3316-3318)gGa>gAa	p.G1106E	VPS13B_ENST00000357162.2_Missense_Mutation_p.G1106E|VPS13B_ENST00000395996.1_Missense_Mutation_p.G1106E	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1106					protein transport (GO:0015031)			p.G1106E(2)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TGGTACCATGGACAAACCAGC	0.428																																					Colon(161;2205 2542 7338 31318)	ENST00000395996.1																			2	Substitution - Missense(2)	p.G1106E(2)	prostate(2)	NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193						c.(3316-3318)gGa>gAa		vacuolar protein sorting 13 homolog B (yeast)							163.0	150.0	155.0					8																	100454735		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100454735G>A	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.3317G>A	8.37:g.100454735G>A	ENSP00000351346:p.Gly1106Glu		Somatic				VPS13B_ENST00000357162.2_Missense_Mutation_p.G1106E|VPS13B_ENST00000358544.2_Missense_Mutation_p.G1106E	p.G1106E			WXS	Illumina GAIIx	Phase_I	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		23	3428	+	Breast(36;3.73e-07)		1106					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.3317G>A	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.381016	0.82792	.	.	ENSG00000132549	ENST00000357162;ENST00000358544;ENST00000395996	T;T;T	0.40476	1.03;1.03;1.03	5.71	5.71	0.89125	.	0.126149	0.53938	D	0.000048	T	0.56963	0.2021	L	0.32530	0.975	0.51233	D	0.999918	D;D;D;D	0.76494	0.997;0.999;0.995;0.982	D;D;P;P	0.76071	0.944;0.987;0.82;0.805	T	0.57774	-0.7753	10	0.66056	D	0.02	.	19.8633	0.96793	0.0:0.0:1.0:0.0	.	1105;1106;1106;1106	Q7Z7G8-6;Q7Z7G8-2;Q7Z7G8;Q7Z7G8-3	.;.;VP13B_HUMAN;.	E	1106	ENSP00000349685:G1106E;ENSP00000351346:G1106E;ENSP00000379318:G1106E	ENSP00000349685:G1106E	G	+	2	0	VPS13B	100523911	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	5.468000	0.66743	2.697000	0.92050	0.591000	0.81541	GGA		0.428	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		6	107	6	107	---	---	---	---
FAM91A1	157769	broad.mit.edu	37	8	124799551	124799551	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr8:124799551C>T	ENST00000334705.7	+	13	1375	c.1129C>T	c.(1129-1131)Cgc>Tgc	p.R377C	FAM91A1_ENST00000521166.1_Missense_Mutation_p.R377C	NM_144963.2	NP_659400	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	377								p.R377C(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)			ACACACGAAGCGCATCGCATT	0.388																																						ENST00000334705.7																			1	Substitution - Missense(1)	p.R377C(1)	prostate(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						c.(1129-1131)Cgc>Tgc		family with sequence similarity 91, member A1							76.0	73.0	74.0					8																	124799551		1881	4110	5991	SO:0001583	missense	157769							g.chr8:124799551C>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.1129C>T	8.37:g.124799551C>T	ENSP00000335082:p.Arg377Cys		Somatic				FAM91A1_ENST00000521166.1_Missense_Mutation_p.R377C	p.R377C	NM_144963.2	NP_659400	WXS	Illumina GAIIx	Phase_I	Q658Y4	F91A1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00192)		13	1375	+	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		377					B6YY23|Q658T5|Q8TE89	Missense_Mutation	SNP	ENST00000334705.7	37	c.1129C>T	CCDS6346.2	.	.	.	.	.	.	.	.	.	.	C	18.71	3.683049	0.68157	.	.	ENSG00000176853	ENST00000521166;ENST00000334705	T;T	0.60171	0.21;0.21	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.79834	0.4514	M	0.87381	2.88	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.66196	0.917;0.942	T	0.82754	-0.0301	10	0.87932	D	0	.	19.8193	0.96586	0.0:1.0:0.0:0.0	.	377;377	E7ER68;Q658Y4	.;F91A1_HUMAN	C	377	ENSP00000429491:R377C;ENSP00000335082:R377C	ENSP00000335082:R377C	R	+	1	0	FAM91A1	124868732	1.000000	0.71417	1.000000	0.80357	0.242000	0.25591	6.182000	0.71995	2.699000	0.92147	0.650000	0.86243	CGC		0.388	FAM91A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256607.1	NM_144963		12	85	12	85	---	---	---	---
ALG2	85365	broad.mit.edu	37	9	101980873	101980873	+	Silent	SNP	G	G	A	rs201757938		TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr9:101980873G>A	ENST00000476832.1	-	2	655	c.594C>T	c.(592-594)gtC>gtT	p.V198V	ALG2_ENST00000319033.6_Silent_p.V105V	NM_033087.3	NP_149078.1	O75340	PDCD6_HUMAN	ALG2, alpha-1,3/1,6-mannosyltransferase	0					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|cellular response to heat (GO:0034605)|intracellular protein transport (GO:0006886)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|proteolysis (GO:0006508)|response to calcium ion (GO:0051592)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	binding, bridging (GO:0060090)|calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|calcium-dependent protein binding (GO:0048306)|protein dimerization activity (GO:0046983)	p.V198V(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|prostate(2)	22		Acute lymphoblastic leukemia(62;0.0559)				ATGGATAGAGGACATCAGGGT	0.468																																						ENST00000476832.1																			1	Substitution - coding silent(1)	p.V198V(1)	prostate(1)	breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|prostate(2)	22						c.(592-594)gtC>gtT		ALG2, alpha-1,3/1,6-mannosyltransferase							118.0	119.0	118.0					9																	101980873		2203	4300	6503	SO:0001819	synonymous_variant	85365				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in endoplasmic reticulum|protein N-linked glycosylation via asparagine|response to calcium ion	endoplasmic reticulum membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	alpha-1,3-mannosyltransferase activity|calcium-dependent protein binding|glycolipid 3-alpha-mannosyltransferase activity|protein anchor|protein heterodimerization activity|protein N-terminus binding	g.chr9:101980873G>A	AK027417	CCDS6739.1	9q31.1	2013-02-22	2013-02-22		ENSG00000119523	ENSG00000119523	2.4.1.132, 2.4.1.257	"""Glycosyltransferase group 1 domain containing"""	23159	protein-coding gene	gene with protein product		607905	"""asparagine-linked glycosylation 2 homolog (yeast, alpha-1,3-mannosyltransferase)"", ""asparagine-linked glycosylation 2, alpha-1,3-mannosyltransferase homolog (S. cerevisiae)"""			12684507	Standard	NR_024532		Approved	CDGIi, FLJ14511, hALPG2, NET38	uc004azf.3	Q9H553	OTTHUMG00000020355	ENST00000476832.1:c.594C>T	9.37:g.101980873G>A			Somatic				ALG2_ENST00000319033.6_Silent_p.V105V	p.V198V	NM_033087.3	NP_149078.1	WXS	Illumina GAIIx	Phase_I	Q9H553	ALG2_HUMAN			2	655	-		Acute lymphoblastic leukemia(62;0.0559)	198					B2RD16|E7ESR3|Q2YDC2|Q5TZS0	Silent	SNP	ENST00000476832.1	37	c.594C>T	CCDS6739.1																																																																																				0.468	ALG2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215080.1	NM_033087		13	118	13	118	---	---	---	---
ZNF462	58499	broad.mit.edu	37	9	109689585	109689585	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr9:109689585T>C	ENST00000277225.5	+	3	3681	c.3392T>C	c.(3391-3393)gTc>gCc	p.V1131A	ZNF462_ENST00000441147.2_5'Flank|ZNF462_ENST00000457913.1_Missense_Mutation_p.V1131A			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1131					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V1131A(1)		NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						GGAGTGCTTGTCCACTACCAG	0.532																																						ENST00000277225.5																			1	Substitution - Missense(1)	p.V1131A(1)	prostate(1)	NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(3391-3393)gTc>gCc		zinc finger protein 462							93.0	97.0	95.0					9																	109689585		2203	4300	6503	SO:0001583	missense	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109689585T>C	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.3392T>C	9.37:g.109689585T>C	ENSP00000277225:p.Val1131Ala		Somatic				ZNF462_ENST00000457913.1_Missense_Mutation_p.V1131A	p.V1131A			WXS	Illumina GAIIx	Phase_I	Q96JM2	ZN462_HUMAN			3	3681	+			1131					Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	37	c.3392T>C	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	T	18.36	3.606799	0.66558	.	.	ENSG00000148143	ENST00000277225;ENST00000457913;ENST00000374686	T;T;T	0.10763	2.84;3.25;3.09	5.37	5.37	0.77165	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.27798	0.0684	L	0.54323	1.7	0.80722	D	1	D;D	0.67145	0.996;0.993	D;D	0.76071	0.987;0.967	T	0.00878	-1.1530	10	0.33141	T	0.24	.	15.3692	0.74548	0.0:0.0:0.0:1.0	.	1131;1131	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	A	1131;1131;14	ENSP00000277225:V1131A;ENSP00000414570:V1131A;ENSP00000363818:V14A	ENSP00000277225:V1131A	V	+	2	0	ZNF462	108729406	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.933000	0.87642	2.033000	0.60031	0.459000	0.35465	GTC		0.532	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		16	238	16	238	---	---	---	---
NUP188	23511	broad.mit.edu	37	9	131768055	131768055	+	Splice_Site	SNP	G	G	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr9:131768055G>T	ENST00000372577.2	+	41	4890	c.4869G>T	c.(4867-4869)gaG>gaT	p.E1623D	RP11-167N5.5_ENST00000594418.1_lincRNA	NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1623					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)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)		p.E1623D(1)		breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						TGCTTGGAGAGGTAAGTTGGT	0.597																																						ENST00000372577.2																			1	Substitution - Missense(1)	p.E1623D(1)	prostate(1)	breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						c.(4867-4869)gaG>gaT		nucleoporin 188kDa							143.0	140.0	141.0					9																	131768055		2203	4300	6503	SO:0001630	splice_region_variant	23511				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr9:131768055G>T	D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"""KIAA0169"""	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.4869+1G>T	9.37:g.131768055G>T			Somatic					p.E1623D	NM_015354.1	NP_056169.1	WXS	Illumina GAIIx	Phase_I	Q5SRE5	NU188_HUMAN			41	4890	+			1623					Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Splice_Site	SNP	ENST00000372577.2	37	c.4869G>T	CCDS35156.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.399202	0.83120	.	.	ENSG00000095319	ENST00000356693;ENST00000372577	T	0.33438	1.41	5.02	4.13	0.48395	.	0.096036	0.64402	D	0.000001	T	0.47820	0.1466	L	0.57536	1.79	0.80722	D	1	D	0.58970	0.984	D	0.68192	0.956	T	0.43376	-0.9395	10	0.52906	T	0.07	-33.0615	10.8037	0.46504	0.0876:0.0:0.9124:0.0	.	1623	Q5SRE5	NU188_HUMAN	D	1512;1623	ENSP00000361658:E1623D	ENSP00000349125:E1512D	E	+	3	2	NUP188	130807876	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	3.841000	0.55850	1.239000	0.43787	0.561000	0.74099	GAG		0.597	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2		Missense_Mutation	18	296	18	296	---	---	---	---
MFAP5	8076	broad.mit.edu	37	12	8804283	8804283	+	Silent	SNP	G	G	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr12:8804283G>T	ENST00000359478.2	-	7	409	c.222C>A	c.(220-222)tcC>tcA	p.S74S	MFAP5_ENST00000396549.2_Intron|MFAP5_ENST00000543369.1_Intron|MFAP5_ENST00000433590.2_Intron|MFAP5_ENST00000535336.1_Intron|MFAP5_ENST00000540087.1_Intron|MFAP5_ENST00000538107.1_5'Flank	NM_003480.2	NP_003471.1	Q13361	MFAP5_HUMAN	microfibrillar associated protein 5	74					extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|microfibril (GO:0001527)	extracellular matrix structural constituent (GO:0005201)			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|skin(1)	13	Lung SC(5;0.184)					TTTCACTGAGGGAGGCTGAAA	0.433																																						ENST00000359478.2																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(5)|skin(1)	13						c.(220-222)tcC>tcA		microfibrillar associated protein 5							142.0	134.0	137.0					12																	8804283		2203	4300	6503	SO:0001819	synonymous_variant	8076					microfibril	extracellular matrix structural constituent	g.chr12:8804283G>T	AK124368	CCDS8595.1, CCDS73437.1	12p13.1-p12.3	2004-04-05				ENSG00000197614			29673	protein-coding gene	gene with protein product		601103				9792630, 8557636	Standard	XM_005253485		Approved	MAGP2, MP25	uc001qut.1	Q13361		ENST00000359478.2:c.222C>A	12.37:g.8804283G>T			Somatic				MFAP5_ENST00000543369.1_Intron|MFAP5_ENST00000540087.1_Intron|MFAP5_ENST00000535336.1_Intron|MFAP5_ENST00000396549.2_Intron|MFAP5_ENST00000433590.2_Intron	p.S74S	NM_003480.2	NP_003471.1	WXS	Illumina GAIIx	Phase_I	Q13361	MFAP5_HUMAN			7	409	-	Lung SC(5;0.184)		74					B0AZL6|D3DUV1|Q7Z490	Silent	SNP	ENST00000359478.2	37	c.222C>A	CCDS8595.1	.	.	.	.	.	.	.	.	.	.	G	0.020	-1.443480	0.01089	.	.	ENSG00000197614	ENST00000535411	.	.	.	4.33	-8.66	0.00866	.	.	.	.	.	T	0.17238	0.0414	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.17561	-1.0365	4	.	.	.	3.0584	4.1641	0.10298	0.0995:0.1391:0.209:0.5525	.	.	.	.	H	64	.	.	P	-	2	0	MFAP5	8695550	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-3.078000	0.00615	-1.983000	0.00987	-1.058000	0.02302	CCC		0.433	MFAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400656.2	NM_003480		8	167	8	167	---	---	---	---
TRPV4	59341	broad.mit.edu	37	12	110226321	110226321	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr12:110226321G>T	ENST00000418703.2	-	12	2186	c.2092C>A	c.(2092-2094)Ctg>Atg	p.L698M	TRPV4_ENST00000261740.2_Missense_Mutation_p.L698M|TRPV4_ENST00000541794.1_Missense_Mutation_p.L651M|TRPV4_ENST00000392719.2_Missense_Mutation_p.L651M|TRPV4_ENST00000536838.1_Missense_Mutation_p.L664M|TRPV4_ENST00000346520.2_Missense_Mutation_p.L638M|TRPV4_ENST00000537083.1_Missense_Mutation_p.L638M|TRPV4_ENST00000544971.1_Missense_Mutation_p.L591M	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	698					actin cytoskeleton reorganization (GO:0031532)|actin filament organization (GO:0007015)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cell death (GO:0008219)|cell volume homeostasis (GO:0006884)|cell-cell junction assembly (GO:0007043)|cellular calcium ion homeostasis (GO:0006874)|cellular hypotonic response (GO:0071476)|cellular response to heat (GO:0034605)|cellular response to osmotic stress (GO:0071470)|cortical microtubule organization (GO:0043622)|hyperosmotic salinity response (GO:0042538)|ion transmembrane transport (GO:0034220)|microtubule polymerization (GO:0046785)|negative regulation of neuron projection development (GO:0010977)|osmosensory signaling pathway (GO:0007231)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule depolymerization (GO:0031117)|regulation of response to osmotic stress (GO:0047484)|response to mechanical stimulus (GO:0009612)|transmembrane transport (GO:0055085)|vasopressin secretion (GO:0030103)	adherens junction (GO:0005912)|cell surface (GO:0009986)|cilium (GO:0005929)|cortical actin cytoskeleton (GO:0030864)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|beta-tubulin binding (GO:0048487)|calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)|cation channel activity (GO:0005261)|microtubule binding (GO:0008017)|osmosensor activity (GO:0005034)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)	p.L698M(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						GTCACCAGCAGGATGATGAAG	0.567																																						ENST00000418703.2																			1	Substitution - Missense(1)	p.L698M(1)	prostate(1)	breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						c.(2092-2094)Ctg>Atg		transient receptor potential cation channel, subfamily V, member 4							220.0	170.0	187.0					12																	110226321		2203	4300	6503	SO:0001583	missense	59341				actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding	g.chr12:110226321G>T	AF263523	CCDS9134.1, CCDS9135.1, CCDS53827.1, CCDS53828.1, CCDS53829.1	12q24.1	2014-09-17				ENSG00000111199		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18083	protein-coding gene	gene with protein product	"""osmosensitive transient receptor potential channel 4"""	605427				11025659, 11081638, 16382100, 20037587	Standard	NM_147204		Approved	OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, CMT2C	uc001tpk.2	Q9HBA0		ENST00000418703.2:c.2092C>A	12.37:g.110226321G>T	ENSP00000406191:p.Leu698Met		Somatic				TRPV4_ENST00000537083.1_Missense_Mutation_p.L638M|TRPV4_ENST00000536838.1_Missense_Mutation_p.L664M|TRPV4_ENST00000346520.2_Missense_Mutation_p.L638M|TRPV4_ENST00000544971.1_Missense_Mutation_p.L591M|TRPV4_ENST00000541794.1_Missense_Mutation_p.L651M|TRPV4_ENST00000392719.2_Missense_Mutation_p.L651M|TRPV4_ENST00000261740.2_Missense_Mutation_p.L698M	p.L698M	NM_001177431.1	NP_001170902.1	WXS	Illumina GAIIx	Phase_I	Q9HBA0	TRPV4_HUMAN			12	2186	-			698					B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Missense_Mutation	SNP	ENST00000418703.2	37	c.2092C>A	CCDS9134.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.100189	0.76983	.	.	ENSG00000111199	ENST00000418703;ENST00000261740;ENST00000392719;ENST00000346520;ENST00000544971;ENST00000537083;ENST00000541794;ENST00000536838	D;D;D;D;D;D;D;D	0.98649	-5.05;-5.05;-5.05;-5.05;-5.05;-5.05;-5.05;-5.05	5.71	4.81	0.61882	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99184	0.9717	M	0.89534	3.04	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	0.999;1.0;0.999;0.998;0.999	D	0.98805	1.0741	10	0.62326	D	0.03	-17.0325	13.7593	0.62956	0.0757:0.0:0.9243:0.0	.	638;698;591;651;664	Q9HBA0-2;Q9HBA0;Q9HBA0-6;Q9HBA0-4;Q9HBA0-5	.;TRPV4_HUMAN;.;.;.	M	698;698;651;638;591;638;651;664	ENSP00000406191:L698M;ENSP00000261740:L698M;ENSP00000376480:L651M;ENSP00000319003:L638M;ENSP00000443611:L591M;ENSP00000442738:L638M;ENSP00000442167:L651M;ENSP00000444336:L664M	ENSP00000261740:L698M	L	-	1	2	TRPV4	108710704	1.000000	0.71417	0.987000	0.45799	0.925000	0.55904	7.640000	0.83355	2.694000	0.91930	0.655000	0.94253	CTG		0.567	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403270.1	NM_021625		18	184	18	184	---	---	---	---
LIG4	3981	broad.mit.edu	37	13	108861451	108861451	+	Silent	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr13:108861451C>T	ENST00000356922.4	-	2	2438	c.2166G>A	c.(2164-2166)aaG>aaA	p.K722K	LIG4_ENST00000405925.1_Silent_p.K722K|LIG4_ENST00000442234.1_Silent_p.K722K	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	722	BRCT 1. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|chromosome organization (GO:0051276)|DNA biosynthetic process (GO:0071897)|DNA ligation (GO:0006266)|DNA ligation involved in DNA recombination (GO:0051102)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|lagging strand elongation (GO:0006273)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|single strand break repair (GO:0000012)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|focal adhesion (GO:0005925)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)	p.K722K(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					GCCATGCAGGCTTGACAACAT	0.398								Non-homologous end-joining																														ENST00000356922.4																			1	Substitution - coding silent(1)	p.K722K(1)	prostate(1)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(2164-2166)aaG>aaA	Non-homologous end-joining	ligase IV, DNA, ATP-dependent							74.0	70.0	72.0					13																	108861451		2203	4300	6503	SO:0001819	synonymous_variant	3981				cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding	g.chr13:108861451C>T	X83441	CCDS9508.1	13q33-q34	2014-09-17			ENSG00000174405	ENSG00000174405	6.5.1.1		6601	protein-coding gene	gene with protein product	"""polydeoxyribonucleotide synthase [ATP] 4"", ""polynucleotide ligase"", ""sealase"", ""DNA repair enzyme"", ""DNA joinase"""	601837				7760816	Standard	NM_001098268		Approved		uc001vqo.3	P49917	OTTHUMG00000017328	ENST00000356922.4:c.2166G>A	13.37:g.108861451C>T			Somatic				LIG4_ENST00000442234.1_Silent_p.K722K|LIG4_ENST00000405925.1_Silent_p.K722K	p.K722K	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	WXS	Illumina GAIIx	Phase_I	P49917	DNLI4_HUMAN			2	2438	-	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)		722			BRCT 1.		Q8IY66|Q8TEU5	Silent	SNP	ENST00000356922.4	37	c.2166G>A	CCDS9508.1																																																																																				0.398	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045738.4	NM_002312		11	124	11	124	---	---	---	---
COL4A2	1284	broad.mit.edu	37	13	111156530	111156530	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr13:111156530G>T	ENST00000360467.5	+	45	4627	c.4321G>T	c.(4321-4323)Gga>Tga	p.G1441*	COL4A2-AS1_ENST00000417970.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1441	Triple-helical region.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)	p.G1441*(1)		NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			TGGGCCCCAAGGAAGAGGTGG	0.622																																						ENST00000360467.5																			1	Substitution - Nonsense(1)	p.G1441*(1)	prostate(1)	NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(4321-4323)Gga>Tga		collagen, type IV, alpha 2							64.0	72.0	69.0					13																	111156530		1940	4135	6075	SO:0001587	stop_gained	1284				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	g.chr13:111156530G>T	AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.4321G>T	13.37:g.111156530G>T	ENSP00000353654:p.Gly1441*		Somatic				COL4A2-AS1_ENST00000417970.2_RNA	p.G1441*	NM_001846.2	NP_001837.2	WXS	Illumina GAIIx	Phase_I	P08572	CO4A2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		45	4627	+	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	1441			Triple-helical region.		Q14052|Q548C3|Q5VZA9|Q66K23	Nonsense_Mutation	SNP	ENST00000360467.5	37	c.4321G>T	CCDS41907.1	.	.	.	.	.	.	.	.	.	.	G	47	13.497846	0.99745	.	.	ENSG00000134871	ENST00000360467;ENST00000257309	.	.	.	5.2	5.2	0.72013	.	0.000000	0.56097	D	0.000039	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.3673	0.90396	0.0:0.0:1.0:0.0	.	.	.	.	X	1441	.	ENSP00000257309:G1441X	G	+	1	0	COL4A2	109954531	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	8.266000	0.89871	2.423000	0.82170	0.561000	0.74099	GGA		0.622	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846		12	122	12	122	---	---	---	---
KCNH5	27133	broad.mit.edu	37	14	63175050	63175050	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr14:63175050G>A	ENST00000322893.7	-	11	2411	c.2143C>T	c.(2143-2145)Cag>Tag	p.Q715*	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	715	Calmodulin-binding. {ECO:0000255}.				potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.Q715*(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TCCTTCTGCTGCTTGAACTTC	0.562																																						ENST00000322893.7																			1	Substitution - Nonsense(1)	p.Q715*(1)	prostate(1)	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99						c.(2143-2145)Cag>Tag		potassium voltage-gated channel, subfamily H (eag-related), member 5							119.0	119.0	119.0					14																	63175050		2203	4300	6503	SO:0001587	stop_gained	27133				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63175050G>A	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.2143C>T	14.37:g.63175050G>A	ENSP00000321427:p.Gln715*		Somatic				KCNH5_ENST00000420622.2_3'UTR	p.Q715*	NM_139318.3	NP_647479.2	WXS	Illumina GAIIx	Phase_I	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	11	2411	-			715			Calmodulin-binding (Potential).		C9JP98	Nonsense_Mutation	SNP	ENST00000322893.7	37	c.2143C>T	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	G	39	7.728019	0.98456	.	.	ENSG00000140015	ENST00000322893	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	.	19.4558	0.94889	0.0:0.0:1.0:0.0	.	.	.	.	X	715	.	ENSP00000321427:Q715X	Q	-	1	0	KCNH5	62244803	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.611000	0.88343	0.655000	0.94253	CAG		0.562	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		14	208	14	208	---	---	---	---
C14orf159	80017	broad.mit.edu	37	14	91647609	91647609	+	Silent	SNP	T	T	C			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr14:91647609T>C	ENST00000523771.1	+	8	1398	c.795T>C	c.(793-795)tgT>tgC	p.C265C	C14orf159_ENST00000521077.2_Silent_p.C270C|C14orf159_ENST00000520328.1_Silent_p.C253C|C14orf159_ENST00000412671.2_Silent_p.C270C|C14orf159_ENST00000518868.1_Silent_p.C270C|C14orf159_ENST00000256324.10_Silent_p.C270C|C14orf159_ENST00000525393.2_Silent_p.C141C|C14orf159_ENST00000428926.2_Silent_p.C265C|C14orf159_ENST00000522322.1_Silent_p.C265C|C14orf159_ENST00000523816.1_Silent_p.C265C			Q7Z3D6	CN159_HUMAN	chromosome 14 open reading frame 159	265						mitochondrion (GO:0005739)		p.C265C(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		CACCTGGTTGTCTCACCCCAG	0.522																																						ENST00000518868.1																			1	Substitution - coding silent(1)	p.C265C(1)	prostate(1)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21						c.(808-810)tgT>tgC		chromosome 14 open reading frame 159							87.0	76.0	79.0					14																	91647609		2203	4300	6503	SO:0001819	synonymous_variant	80017					mitochondrion		g.chr14:91647609T>C	AK097294	CCDS32141.1, CCDS41979.1, CCDS45150.1, CCDS66693.1, CCDS73677.1	14q32.11	2012-09-26			ENSG00000133943	ENSG00000133943			20498	protein-coding gene	gene with protein product							Standard	NM_001102367		Approved	FLJ39975	uc001xze.2	Q7Z3D6	OTTHUMG00000164980	ENST00000523771.1:c.795T>C	14.37:g.91647609T>C			Somatic				C14orf159_ENST00000523771.1_Silent_p.C265C|C14orf159_ENST00000412671.2_Silent_p.C270C|C14orf159_ENST00000256324.10_Silent_p.C270C|C14orf159_ENST00000525393.2_Silent_p.C141C|C14orf159_ENST00000522322.1_Silent_p.C265C|C14orf159_ENST00000521077.2_Silent_p.C270C|C14orf159_ENST00000428926.2_Silent_p.C265C|C14orf159_ENST00000520328.1_Silent_p.C253C|C14orf159_ENST00000523816.1_Silent_p.C265C	p.C270C			WXS	Illumina GAIIx	Phase_I	Q7Z3D6	CN159_HUMAN		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)	11	1500	+		all_cancers(154;0.0191)|all_epithelial(191;0.241)	265					B3KUI7|Q86SW3|Q86SX8|Q86SX9|Q86T08|Q86TV5|Q96GW5|Q9H7G0|Q9H8Y9|Q9H9W6	Silent	SNP	ENST00000523771.1	37	c.810T>C	CCDS32141.1																																																																																				0.522	C14orf159-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381273.1	NM_024952		5	63	5	63	---	---	---	---
SERPINA10	51156	broad.mit.edu	37	14	94756667	94756667	+	Silent	SNP	T	T	C			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr14:94756667T>C	ENST00000393096.1	-	2	729	c.264A>G	c.(262-264)cgA>cgG	p.R88R	SERPINA10_ENST00000554173.1_Silent_p.R88R|SERPINA10_ENST00000554723.1_Silent_p.R128R|SERPINA10_ENST00000261994.4_Silent_p.R88R	NM_016186.2	NP_057270.1	Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	88					blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.R88R(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		TGGAGATCTTTCGCAGCAGGC	0.567																																						ENST00000554723.1																			1	Substitution - coding silent(1)	p.R88R(1)	prostate(1)	haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33						c.(382-384)cgA>cgG		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10							77.0	70.0	73.0					14																	94756667		2203	4300	6503	SO:0001819	synonymous_variant	51156				regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr14:94756667T>C	AF181467	CCDS9923.1	14q32.13	2014-02-18	2005-08-18		ENSG00000140093	ENSG00000140093		"""Serine (or cysteine) peptidase inhibitors"""	15996	protein-coding gene	gene with protein product		605271	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10"""			10460162, 9689066, 24172014	Standard	NM_016186		Approved	PZI, ZPI	uc001yct.3	Q9UK55	OTTHUMG00000171345	ENST00000393096.1:c.264A>G	14.37:g.94756667T>C			Somatic				SERPINA10_ENST00000261994.4_Silent_p.R88R|SERPINA10_ENST00000393096.1_Silent_p.R88R|SERPINA10_ENST00000554173.1_Silent_p.R88R	p.R128R			WXS	Illumina GAIIx	Phase_I	Q9UK55	ZPI_HUMAN		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	2	802	-		all_cancers(154;0.105)	88					A5Z2A5|Q6UWX9|Q86U20	Silent	SNP	ENST00000393096.1	37	c.384A>G	CCDS9923.1																																																																																				0.567	SERPINA10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413061.1	NM_016186		14	60	14	60	---	---	---	---
FAM214A	56204	broad.mit.edu	37	15	52970217	52970217	+	Start_Codon_SNP	SNP	A	A	G			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr15:52970217A>G	ENST00000261844.7	-	2	154	c.2T>C	c.(1-3)aTg>aCg	p.M1T	FAM214A_ENST00000562351.1_5'UTR	NM_019600.2	NP_062546.2	Q32MH5	F214A_HUMAN	family with sequence similarity 214, member A	1								p.M1T(1)									GTCTGGCTTCATTTTCACATC	0.453																																						ENST00000261844.7																			1	Substitution - Missense(1)	p.M1T(1)	prostate(1)								c.(1-3)aTg>aCg		family with sequence similarity 214, member A							111.0	111.0	111.0					15																	52970217		1867	4097	5964	SO:0001582	initiator_codon_variant	56204							g.chr15:52970217A>G	AB037791	CCDS45263.1, CCDS66773.1	15q21.2-q21.3	2011-12-01	2011-12-01	2011-12-01	ENSG00000047346	ENSG00000047346			25609	protein-coding gene	gene with protein product			"""KIAA1370"""	KIAA1370		10718198	Standard	XM_005254547		Approved	FLJ10980	uc002acg.4	Q32MH5		ENST00000261844.7:c.2T>C	15.37:g.52970217A>G	ENSP00000261844:p.Met1Thr		Somatic				FAM214A_ENST00000562351.1_5'UTR	p.M1T	NM_019600.2	NP_062546.2	WXS	Illumina GAIIx	Phase_I	Q32MH5	K1370_HUMAN			2	154	-			1					A8KA52|B4DEP5|B4DF40|F5H8G0|Q32MH6|Q4G0R7|Q5XJ16|Q6PDA3|Q9NV24|Q9P2H7	Translation_Start_Site	SNP	ENST00000261844.7	37	c.2T>C	CCDS45263.1	.	.	.	.	.	.	.	.	.	.	A	13.23	2.175971	0.38413	.	.	ENSG00000047346	ENST00000261844	T	0.34472	1.36	5.29	5.29	0.74685	.	.	.	.	.	T	0.57373	0.2049	.	.	.	0.80722	D	1	D	0.54601	0.967	D	0.63597	0.916	T	0.62320	-0.6879	8	0.87932	D	0	.	12.7903	0.57530	1.0:0.0:0.0:0.0	.	1	Q32MH5	K1370_HUMAN	T	1	ENSP00000261844:M1T	ENSP00000261844:M1T	M	-	2	0	KIAA1370	50757509	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.131000	0.57970	2.007000	0.58848	0.528000	0.53228	ATG		0.453	FAM214A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419914.1	NM_019600	Missense_Mutation	14	134	14	134	---	---	---	---
DNAH9	1770	broad.mit.edu	37	17	11865470	11865470	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr17:11865470A>C	ENST00000262442.4	+	68	13198	c.13130A>C	c.(13129-13131)cAa>cCa	p.Q4377P	RP11-1096G20.5_ENST00000580270.1_RNA|DNAH9_ENST00000396001.2_3'UTR|DNAH9_ENST00000608377.1_Missense_Mutation_p.Q689P|DNAH9_ENST00000454412.2_Missense_Mutation_p.Q4301P	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4377					cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ATGGCCCTGCAATGTGACATG	0.562																																						ENST00000262442.4																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(13129-13131)cAa>cCa		dynein, axonemal, heavy chain 9							74.0	73.0	73.0					17																	11865470		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11865470A>C	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.13130A>C	17.37:g.11865470A>C	ENSP00000262442:p.Gln4377Pro		Somatic				DNAH9_ENST00000608377.1_Missense_Mutation_p.Q689P|DNAH9_ENST00000454412.2_Missense_Mutation_p.Q4301P|RP11-1096G20.5_ENST00000580270.1_RNA|DNAH9_ENST00000396001.2_3'UTR	p.Q4377P	NM_001372.3	NP_001363.2	WXS	Illumina GAIIx	Phase_I	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	68	13198	+		Breast(5;0.0122)|all_epithelial(5;0.131)						A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.13130A>C	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	A	15.06	2.720031	0.48728	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703;ENST00000396001	T;T;T	0.09350	2.99;2.99;2.99	5.04	5.04	0.67666	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.30386	0.0763	M	0.87328	2.875	0.51482	D	0.999928	P	0.48230	0.907	P	0.56865	0.808	T	0.04454	-1.0950	10	0.36615	T	0.2	.	11.0149	0.47682	0.8443:0.1557:0.0:0.0	.	4377	Q9NYC9	DYH9_HUMAN	P	4377;4301;2883;689	ENSP00000262442:Q4377P;ENSP00000414874:Q4301P;ENSP00000379323:Q689P	ENSP00000262442:Q4377P	Q	+	2	0	DNAH9	11806195	1.000000	0.71417	0.976000	0.42696	0.938000	0.57974	4.774000	0.62339	2.116000	0.64780	0.533000	0.62120	CAA		0.562	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		9	106	9	106	---	---	---	---
MYO1D	4642	broad.mit.edu	37	17	31087406	31087406	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr17:31087406T>C	ENST00000318217.5	-	10	1502	c.1198A>G	c.(1198-1200)Atc>Gtc	p.I400V	MYO1D_ENST00000579584.1_Missense_Mutation_p.I400V|MYO1D_ENST00000584232.1_5'UTR|MYO1D_ENST00000583621.1_Missense_Mutation_p.I400V|MYO1D_ENST00000394649.4_Missense_Mutation_p.I312V	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	400	Myosin motor.				early endosome to recycling endosome transport (GO:0061502)|negative regulation of phosphatase activity (GO:0010923)	axolemma (GO:0030673)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|smooth endoplasmic reticulum (GO:0005790)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			CAGTAATTGATACAGAATTGT	0.368																																						ENST00000318217.5																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1198-1200)Atc>Gtc		myosin ID							131.0	128.0	129.0					17																	31087406		2203	4300	6503	SO:0001583	missense	4642					myosin complex	actin binding|ATP binding|calmodulin binding	g.chr17:31087406T>C	AB018270	CCDS32615.1	17q11-q12	2014-06-12				ENSG00000176658		"""Myosins / Myosin superfamily : Class I"""	7598	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 108"""	606539				8884266	Standard	NM_015194		Approved	KIAA0727, myr4, PPP1R108	uc002hho.1	O94832		ENST00000318217.5:c.1198A>G	17.37:g.31087406T>C	ENSP00000324527:p.Ile400Val		Somatic				MYO1D_ENST00000394649.4_Missense_Mutation_p.I312V|MYO1D_ENST00000584232.1_5'UTR|MYO1D_ENST00000583621.1_Missense_Mutation_p.I400V|MYO1D_ENST00000579584.1_Missense_Mutation_p.I400V	p.I400V	NM_015194.1	NP_056009.1	WXS	Illumina GAIIx	Phase_I	O94832	MYO1D_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0362)		10	1502	-			400			Myosin head-like.		A6H8V3|Q8NHP9	Missense_Mutation	SNP	ENST00000318217.5	37	c.1198A>G	CCDS32615.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.199046	0.79015	.	.	ENSG00000176658	ENST00000318217	D	0.90788	-2.73	5.46	5.46	0.80206	Myosin head, motor domain (3);	0.000000	0.39909	U	0.001239	D	0.96999	0.9020	H	0.99851	4.845	0.58432	D	0.999996	P;P	0.40834	0.73;0.73	P;P	0.51415	0.669;0.669	D	0.97965	1.0340	10	0.87932	D	0	.	13.7799	0.63077	0.0:0.0:0.0:1.0	.	311;400	Q7Z3N6;O94832	.;MYO1D_HUMAN	V	400	ENSP00000324527:I400V	ENSP00000324527:I400V	I	-	1	0	MYO1D	28111519	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	8.040000	0.89188	2.206000	0.71126	0.533000	0.62120	ATC		0.368	MYO1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447457.1			7	150	7	150	---	---	---	---
TUBG2	27175	broad.mit.edu	37	17	40811928	40811928	+	Silent	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr17:40811928C>T	ENST00000251412.7	+	2	325	c.126C>T	c.(124-126)acC>acT	p.T42T		NM_016437.2	NP_057521.1	Q9NRH3	TBG2_HUMAN	tubulin, gamma 2	42					cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|gamma-tubulin complex (GO:0000930)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|pericentriolar material (GO:0000242)|spindle microtubule (GO:0005876)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.141)		AATTCGCCACCGAGGGCACTG	0.667																																						ENST00000251412.7																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15						c.(124-126)acC>acT		tubulin, gamma 2							44.0	57.0	52.0					17																	40811928		2199	4289	6488	SO:0001819	synonymous_variant	27175				G2/M transition of mitotic cell cycle|microtubule-based process|protein polymerization	cytosol	GTP binding|GTPase activity|structural molecule activity	g.chr17:40811928C>T	AF225971	CCDS32658.1	17q21.2	2014-09-04			ENSG00000037042	ENSG00000037042		"""Tubulins"""	12419	protein-coding gene	gene with protein product		605785					Standard	NM_016437		Approved		uc010wgr.2	Q9NRH3	OTTHUMG00000180640	ENST00000251412.7:c.126C>T	17.37:g.40811928C>T			Somatic					p.T42T	NM_016437.2	NP_057521.1	WXS	Illumina GAIIx	Phase_I	Q9NRH3	TBG2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.141)	2	325	+		Breast(137;0.00116)	42					A6NDI4|Q32NB2	Silent	SNP	ENST00000251412.7	37	c.126C>T	CCDS32658.1																																																																																				0.667	TUBG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452326.1	NM_016437		11	170	11	170	---	---	---	---
LAMA1	284217	broad.mit.edu	37	18	7007238	7007238	+	Missense_Mutation	SNP	G	G	A	rs138028986		TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr18:7007238G>A	ENST00000389658.3	-	29	4253	c.4160C>T	c.(4159-4161)gCa>gTa	p.A1387V		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1387	Laminin EGF-like 14; second part. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				GTCACTCCCTGCTGGGAGCTT	0.557																																						ENST00000389658.3																			0				NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205						c.(4159-4161)gCa>gTa		laminin, alpha 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	G	VAL/ALA	0,4406		0,0,2203	63.0	54.0	57.0		4160	3.5	0.4	18	dbSNP_134	57	1,8599	1.2+/-3.3	0,1,4299	no	missense	LAMA1	NM_005559.3	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	1387/3076	7007238	1,13005	2203	4300	6503	SO:0001583	missense	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:7007238G>A	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.4160C>T	18.37:g.7007238G>A	ENSP00000374309:p.Ala1387Val		Somatic					p.A1387V	NM_005559.3	NP_005550.2	WXS	Illumina GAIIx	Phase_I	P25391	LAMA1_HUMAN			29	4253	-		Colorectal(10;0.172)	1387			Laminin EGF-like 14; second part.			Missense_Mutation	SNP	ENST00000389658.3	37	c.4160C>T	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	G	10.02	1.236146	0.22626	0.0	1.16E-4	ENSG00000101680	ENST00000389658	T	0.18016	2.24	5.83	3.47	0.39725	.	0.893846	0.09795	N	0.754866	T	0.08670	0.0215	N	0.03608	-0.345	0.23685	N	0.99711	B	0.33000	0.393	B	0.35971	0.215	T	0.40175	-0.9577	10	0.30854	T	0.27	.	7.8131	0.29243	0.0:0.0728:0.1623:0.7649	.	1387	P25391	LAMA1_HUMAN	V	1387	ENSP00000374309:A1387V	ENSP00000374309:A1387V	A	-	2	0	LAMA1	6997238	0.015000	0.18098	0.366000	0.25914	0.133000	0.20885	0.848000	0.27710	0.473000	0.27368	-0.274000	0.10170	GCA		0.557	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		4	49	4	49	---	---	---	---
KLHL14	57565	broad.mit.edu	37	18	30350295	30350295	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr18:30350295G>T	ENST00000359358.4	-	2	698	c.260C>A	c.(259-261)cCg>cAg	p.P87Q	KLHL14_ENST00000358095.4_Missense_Mutation_p.P87Q|AC012123.1_ENST00000426194.1_Intron	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	87	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.					endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						ctgctgcggcggctgctgctg	0.726																																						ENST00000359358.4																			0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						c.(259-261)cCg>cAg		kelch-like family member 14							8.0	12.0	11.0					18																	30350295		2011	4052	6063	SO:0001583	missense	57565					cytosol|endoplasmic reticulum membrane		g.chr18:30350295G>T	AB037805	CCDS32813.1	18q12.1	2013-10-15	2013-01-30		ENSG00000197705	ENSG00000197705		"""Kelch-like"", ""BTB/POZ domain containing"""	29266	protein-coding gene	gene with protein product	"""printor"""	613772	"""kelch-like 14 (Drosophila)"""			10718198, 19535332	Standard	NM_020805		Approved	KIAA1384	uc002kxm.1	Q9P2G3	OTTHUMG00000179819	ENST00000359358.4:c.260C>A	18.37:g.30350295G>T	ENSP00000352314:p.Pro87Gln		Somatic				KLHL14_ENST00000358095.4_Missense_Mutation_p.P87Q|AC012123.1_ENST00000426194.1_Intron	p.P87Q	NM_020805.1	NP_065856.1	WXS	Illumina GAIIx	Phase_I	Q9P2G3	KLH14_HUMAN			2	698	-			87			BTB.		A6NNW1|B4DHA0|Q8WU41	Missense_Mutation	SNP	ENST00000359358.4	37	c.260C>A	CCDS32813.1	.	.	.	.	.	.	.	.	.	.	G	4.210	0.037834	0.08148	.	.	ENSG00000197705	ENST00000359358;ENST00000358095	T;T	0.76186	-0.72;-1.0	3.84	-0.421	0.12332	BTB/POZ-like (2);BTB/POZ fold (1);	0.528864	0.14262	N	0.330701	T	0.50274	0.1606	N	0.08118	0	0.30651	N	0.755429	B	0.02656	0.0	B	0.06405	0.002	T	0.39313	-0.9620	10	0.11182	T	0.66	.	13.1196	0.59318	0.0:0.0:0.638:0.362	.	87	Q9P2G3	KLH14_HUMAN	Q	87	ENSP00000352314:P87Q;ENSP00000350808:P87Q	ENSP00000350808:P87Q	P	-	2	0	KLHL14	28604293	0.278000	0.24230	0.997000	0.53966	0.830000	0.47004	-0.572000	0.05881	-0.256000	0.09473	0.460000	0.39030	CCG		0.726	KLHL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448376.1			4	54	4	54	---	---	---	---
KCNG2	26251	broad.mit.edu	37	18	77623902	77623902	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr18:77623902C>T	ENST00000316249.3	+	1	235	c.235C>T	c.(235-237)Cgc>Tgc	p.R79C		NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	79					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of heart contraction (GO:0008016)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		GTGCGCCTTCCGCGCCATCGT	0.711																																						ENST00000316249.3																			0				breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18						c.(235-237)Cgc>Tgc		potassium voltage-gated channel, subfamily G, member 2							16.0	14.0	15.0					18																	77623902		2179	4278	6457	SO:0001583	missense	26251				energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr18:77623902C>T	AJ011021	CCDS12019.1	18q23	2011-07-05			ENSG00000178342	ENSG00000178342		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6249	protein-coding gene	gene with protein product		605696				10551266, 16382104	Standard	NM_012283		Approved	Kv6.2, KCNF2	uc010xfl.2	Q9UJ96	OTTHUMG00000044541	ENST00000316249.3:c.235C>T	18.37:g.77623902C>T	ENSP00000315654:p.Arg79Cys		Somatic					p.R79C	NM_012283.1	NP_036415.1	WXS	Illumina GAIIx	Phase_I	Q9UJ96	KCNG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)	1	235	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	79						Missense_Mutation	SNP	ENST00000316249.3	37	c.235C>T	CCDS12019.1	.	.	.	.	.	.	.	.	.	.	C	12.99	2.103125	0.37145	.	.	ENSG00000178342	ENST00000316249	T	0.78364	-1.17	3.77	2.74	0.32292	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.221994	0.33438	U	0.004908	D	0.86859	0.6034	M	0.89287	3.02	0.58432	D	0.999991	D	0.76494	0.999	D	0.65140	0.932	D	0.87274	0.2288	10	0.48119	T	0.1	.	10.2631	0.43438	0.373:0.627:0.0:0.0	.	79	Q9UJ96	KCNG2_HUMAN	C	79	ENSP00000315654:R79C	ENSP00000315654:R79C	R	+	1	0	KCNG2	75724890	1.000000	0.71417	1.000000	0.80357	0.612000	0.37316	1.434000	0.34958	1.676000	0.50930	0.478000	0.44815	CGC		0.711	KCNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103906.1	NM_012283		4	14	4	14	---	---	---	---
ADNP2	22850	broad.mit.edu	37	18	77896569	77896569	+	Silent	SNP	T	T	C			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr18:77896569T>C	ENST00000262198.4	+	4	3728	c.3273T>C	c.(3271-3273)ttT>ttC	p.F1091F		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	1091					cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|positive regulation of cell growth (GO:0030307)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.F1091F(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		CTTCATTTTTTGGAAAAAGAA	0.308																																						ENST00000262198.4																			1	Substitution - coding silent(1)	p.F1091F(1)	prostate(1)	breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42						c.(3271-3273)ttT>ttC		ADNP homeobox 2							46.0	50.0	49.0					18																	77896569		2198	4290	6488	SO:0001819	synonymous_variant	22850				cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:77896569T>C	AB020670	CCDS32853.1	18q23	2013-01-07	2007-07-17	2007-07-17	ENSG00000101544	ENSG00000101544		"""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	23803	protein-coding gene	gene with protein product			"""zinc finger protein 508"""	ZNF508			Standard	NM_014913		Approved	KIAA0863	uc002lnw.3	Q6IQ32	OTTHUMG00000172535	ENST00000262198.4:c.3273T>C	18.37:g.77896569T>C			Somatic					p.F1091F	NM_014913.3	NP_055728.1	WXS	Illumina GAIIx	Phase_I	Q6IQ32	ADNP2_HUMAN		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)	4	3728	+		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)	1091					A8K951|O94943|Q9H9P3	Silent	SNP	ENST00000262198.4	37	c.3273T>C	CCDS32853.1																																																																																				0.308	ADNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418979.1	NM_014913		9	98	9	98	---	---	---	---
ZNF557	79230	broad.mit.edu	37	19	7075115	7075115	+	Splice_Site	SNP	C	C	T	rs199839153		TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr19:7075115C>T	ENST00000439035.2	+	3	270	c.30C>T	c.(28-30)gcC>gcT	p.A10A	ZNF557_ENST00000252840.6_Splice_Site_p.A10A|ZNF557_ENST00000414706.1_Splice_Site_p.A10A			Q8N988	ZN557_HUMAN	zinc finger protein 557	10					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17				Lung(535;0.179)		CCCCAACTGCCGGTGAGTCAT	0.642																																						ENST00000414706.1																			0				endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17						c.(28-30)gcC>gcT		zinc finger protein 557		T	,,	0,4406		0,0,2203	54.0	59.0	57.0		30,30,30	-1.3	0.0	19		57	3,8597		0,3,4297	yes	coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice	ZNF557	NM_001044387.1,NM_001044388.1,NM_024341.2	,,	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	,,	10/431,10/424,10/431	7075115	3,13003	2203	4300	6503	SO:0001630	splice_region_variant	79230				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:7075115C>T	AK095524	CCDS42485.1, CCDS45945.1	19p13.2	2013-09-20			ENSG00000130544	ENSG00000130544		"""Zinc fingers, C2H2-type"", ""-"""	28632	protein-coding gene	gene with protein product						12477932	Standard	NM_024341		Approved	MGC4054	uc002mgc.3	Q8N988	OTTHUMG00000181977	ENST00000439035.2:c.31+1C>T	19.37:g.7075115C>T			Somatic				ZNF557_ENST00000252840.6_Splice_Site_p.A10A|ZNF557_ENST00000439035.2_Splice_Site_p.A10A	p.A10A	NM_001044387.1|NM_001044388.1|NM_024341.2	NP_001037852.1|NP_001037853.1|NP_077317.2	WXS	Illumina GAIIx	Phase_I	Q8N988	ZN557_HUMAN		Lung(535;0.179)	3	503	+			10					Q6PEJ3|Q9BTZ1	Splice_Site	SNP	ENST00000439035.2	37	c.30C>T	CCDS45945.1																																																																																				0.642	ZNF557-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458502.1	NM_024341	Silent	9	126	9	126	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	8976368	8976368	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr19:8976368C>A	ENST00000397910.4	-	75	42663	c.42460G>T	c.(42460-42462)Ggc>Tgc	p.G14154C	MUC16_ENST00000596956.1_Intron|MUC16_ENST00000380951.5_Missense_Mutation_p.G795C	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14185	SEA 14. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.G14154C(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGCCCGGGGCCCACAGGGTCA	0.597																																						ENST00000397910.4																			2	Substitution - Missense(2)	p.G14154C(2)	prostate(1)|lung(1)	NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(42460-42462)Ggc>Tgc		mucin 16, cell surface associated							35.0	35.0	35.0					19																	8976368		1984	4166	6150	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:8976368C>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.42460G>T	19.37:g.8976368C>A	ENSP00000381008:p.Gly14154Cys		Somatic				MUC16_ENST00000596956.1_Intron|MUC16_ENST00000380951.5_Missense_Mutation_p.G795C	p.G14154C	NM_024690.2	NP_078966.2	WXS	Illumina GAIIx	Phase_I	Q8WXI7	MUC16_HUMAN			75	42663	-			14185	Missing (in Ref. 3; AAK74120).		SEA 14.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.42460G>T	CCDS54212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	13.13|13.13	2.146313|2.146313	0.37923|0.37923	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000397910;ENST00000380951|ENST00000542240	T;T|.	0.49139|.	0.79;0.79|.	4.07|4.07	-2.23|-2.23	0.06930|0.06930	SEA (1);|.	1.471060|.	0.04491|.	N|.	0.379457|.	T|T	0.45955|0.45955	0.1368|0.1368	M|M	0.66939|0.66939	2.045|2.045	.|.	.|.	.|.	D;D|.	0.89917|.	0.999;1.0|.	P;D|.	0.91635|.	0.905;0.999|.	T|T	0.52465|0.52465	-0.8572|-0.8572	8|4	.|.	.|.	.|.	.|.	4.2972|4.2972	0.10908|0.10908	0.0:0.3468:0.3439:0.3092|0.0:0.3468:0.3439:0.3092	.|.	21799;14154|.	Q8WXI7;B5ME49|.	MUC16_HUMAN;.|.	C|C	14154;795|976	ENSP00000381008:G14154C;ENSP00000370338:G795C|.	.|.	G|W	-|-	1|3	0|0	MUC16|MUC16	8837368|8837368	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.011000|0.011000	0.07611|0.07611	-1.115000|-1.115000	0.03289|0.03289	-0.117000|-0.117000	0.11872|0.11872	-0.223000|-0.223000	0.12442|0.12442	GGC|TGG		0.597	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		10	58	10	58	---	---	---	---
RAB3A	5864	broad.mit.edu	37	19	18313413	18313413	+	Silent	SNP	C	C	T	rs144222621		TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr19:18313413C>T	ENST00000222256.4	-	2	316	c.138G>A	c.(136-138)tcG>tcA	p.S46S	RAB3A_ENST00000464076.3_Intron|AC068499.10_ENST00000599416.2_RNA|AC068499.10_ENST00000594805.3_RNA|AC068499.10_ENST00000596473.1_RNA	NM_002866.4	NP_002857.1	P20336	RAB3A_HUMAN	RAB3A, member RAS oncogene family	46					axonogenesis (GO:0007409)|constitutive secretory pathway (GO:0045054)|glutamate secretion (GO:0014047)|GTP catabolic process (GO:0006184)|lung development (GO:0030324)|maintenance of presynaptic active zone structure (GO:0048790)|mitochondrion organization (GO:0007005)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|positive regulation of exocytosis (GO:0045921)|post-embryonic development (GO:0009791)|protein transport (GO:0015031)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|respiratory system process (GO:0003016)|response to electrical stimulus (GO:0051602)|sensory perception of touch (GO:0050975)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|synaptic vesicle maturation (GO:0016188)|synaptic vesicle recycling (GO:0036465)	acrosomal vesicle (GO:0001669)|axon (GO:0030424)|clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|vesicle (GO:0031982)	ATPase activator activity (GO:0001671)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)	p.S46S(2)		NS(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	8						CAGGCGTGAACGAGTCGTCAG	0.542											OREG0025360	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000222256.4																			2	Substitution - coding silent(2)	p.S46S(2)	prostate(1)|lung(1)	NS(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	8						c.(136-138)tcG>tcA		RAB3A, member RAS oncogene family							283.0	226.0	245.0					19																	18313413		2203	4300	6503	SO:0001819	synonymous_variant	5864				glutamate secretion|protein transport|small GTPase mediated signal transduction	clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|plasma membrane|synaptic vesicle	GTP binding|GTPase activity	g.chr19:18313413C>T		CCDS12372.1	19p13.2	2008-07-17			ENSG00000105649	ENSG00000105649		"""RAB, member RAS oncogene"""	9777	protein-coding gene	gene with protein product	"""RAS-associated protein RAB3A"""	179490				2687157, 7532276	Standard	NM_002866		Approved		uc002nie.2	P20336	OTTHUMG00000137378	ENST00000222256.4:c.138G>A	19.37:g.18313413C>T			Somatic	OREG0025360	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	724	RAB3A_ENST00000464076.3_Intron	p.S46S	NM_002866.4	NP_002857.1	WXS	Illumina GAIIx	Phase_I	P20336	RAB3A_HUMAN			2	316	-			46					A8K0J4|Q9NYE1	Silent	SNP	ENST00000222256.4	37	c.138G>A	CCDS12372.1																																																																																				0.542	RAB3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268056.2	NM_002866		42	273	42	273	---	---	---	---
ZBTB32	27033	broad.mit.edu	37	19	36206307	36206307	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr19:36206307C>A	ENST00000392197.2	+	3	1097	c.779C>A	c.(778-780)cCt>cAt	p.P260H	KMT2B_ENST00000222270.7_5'Flank|KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000341701.1_5'Flank|ZBTB32_ENST00000262630.3_Missense_Mutation_p.P260H|KMT2B_ENST00000420124.1_5'Flank			Q9Y2Y4	ZBT32_HUMAN	zinc finger and BTB domain containing 32	260					DNA repair (GO:0006281)|hemopoiesis (GO:0030097)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of cytokine production (GO:0001817)|T cell proliferation (GO:0042098)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.P260H(1)		large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	14	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGGGGCCAGCCTGCCCTGTGG	0.672																																						ENST00000392197.2																			1	Substitution - Missense(1)	p.P260H(1)	prostate(1)	large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	14						c.(778-780)cCt>cAt		zinc finger and BTB domain containing 32							42.0	45.0	44.0					19																	36206307		2201	4297	6498	SO:0001583	missense	27033				DNA repair|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding	g.chr19:36206307C>A	AF130255	CCDS12471.1	19q13.1	2013-01-08			ENSG00000011590	ENSG00000011590		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	16763	protein-coding gene	gene with protein product	"""repressor of GATA"""	605859				10572087	Standard	XM_005258739		Approved	TZFP, FAZF, FAXF, Rog, ZNF538	uc002oay.3	Q9Y2Y4	OTTHUMG00000048118	ENST00000392197.2:c.779C>A	19.37:g.36206307C>A	ENSP00000376035:p.Pro260His		Somatic				ZBTB32_ENST00000262630.3_Missense_Mutation_p.P260H	p.P260H			WXS	Illumina GAIIx	Phase_I	Q9Y2Y4	ZBT32_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		3	1097	+	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		260					Q8WVP2	Missense_Mutation	SNP	ENST00000392197.2	37	c.779C>A	CCDS12471.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.005196	0.74932	.	.	ENSG00000011590	ENST00000262630;ENST00000392197	T;T	0.10192	2.9;2.9	5.33	5.33	0.75918	.	0.314536	0.23405	N	0.048535	T	0.15739	0.0379	L	0.27053	0.805	0.28072	N	0.93254	D	0.63046	0.992	P	0.54401	0.751	T	0.02263	-1.1186	10	0.54805	T	0.06	-0.6659	14.5085	0.67769	0.0:1.0:0.0:0.0	.	260	Q9Y2Y4	ZBT32_HUMAN	H	260	ENSP00000262630:P260H;ENSP00000376035:P260H	ENSP00000262630:P260H	P	+	2	0	ZBTB32	40898147	0.005000	0.15991	1.000000	0.80357	0.996000	0.88848	1.682000	0.37628	2.489000	0.83994	0.655000	0.94253	CCT		0.672	ZBTB32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109491.3	NM_014383		14	135	14	135	---	---	---	---
ZNF574	64763	broad.mit.edu	37	19	42584668	42584668	+	Missense_Mutation	SNP	G	G	A	rs369881574		TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr19:42584668G>A	ENST00000600245.1	+	2	2565	c.1910G>A	c.(1909-1911)cGc>cAc	p.R637H	ZNF574_ENST00000359044.4_Missense_Mutation_p.R637H|CTB-59C6.3_ENST00000594531.1_RNA|ZNF574_ENST00000222339.7_Missense_Mutation_p.R727H			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	637					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R637H(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				CAGCCCCACCGCTGCCCATCC	0.701																																						ENST00000600245.1																			1	Substitution - Missense(1)	p.R637H(1)	prostate(1)	endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(1909-1911)cGc>cAc		zinc finger protein 574							45.0	49.0	48.0					19																	42584668		2202	4296	6498	SO:0001583	missense	64763				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:42584668G>A	AK074788	CCDS12596.1	19q13.2	2013-09-20			ENSG00000105732	ENSG00000105732		"""Zinc fingers, C2H2-type"""	26166	protein-coding gene	gene with protein product						12477932	Standard	NM_022752		Approved	FLJ22059	uc002osm.4	Q6ZN55	OTTHUMG00000182751	ENST00000600245.1:c.1910G>A	19.37:g.42584668G>A	ENSP00000469029:p.Arg637His		Somatic				ZNF574_ENST00000359044.4_Missense_Mutation_p.R637H|ZNF574_ENST00000222339.7_Missense_Mutation_p.R727H	p.R637H			WXS	Illumina GAIIx	Phase_I	Q6ZN55	ZN574_HUMAN			2	2565	+		Prostate(69;0.059)	637					Q6IPE0|Q6ZN10|Q7L5Z5|Q8NCE3|Q9H6N0	Missense_Mutation	SNP	ENST00000600245.1	37	c.1910G>A	CCDS12596.1	.	.	.	.	.	.	.	.	.	.	G	17.91	3.503426	0.64298	.	.	ENSG00000105732	ENST00000222339;ENST00000359044;ENST00000535775	T;T	0.15487	2.42;2.42	5.4	5.4	0.78164	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.218621	0.39341	N	0.001400	T	0.34395	0.0896	L	0.39147	1.195	0.43540	D	0.995834	D;D	0.89917	0.999;1.0	D;D	0.70227	0.921;0.968	T	0.02519	-1.1147	10	0.59425	D	0.04	-26.3727	17.944	0.89034	0.0:0.0:1.0:0.0	.	637;726	Q6ZN55;Q6ZN55-2	ZN574_HUMAN;.	H	727;637;244	ENSP00000222339:R727H;ENSP00000351939:R637H	ENSP00000222339:R727H	R	+	2	0	ZNF574	47276508	0.000000	0.05858	1.000000	0.80357	0.997000	0.91878	-0.423000	0.07034	2.525000	0.85131	0.637000	0.83480	CGC		0.701	ZNF574-002	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463458.1	NM_022752		10	199	10	199	---	---	---	---
ZNF71	58491	broad.mit.edu	37	19	57132798	57132798	+	Missense_Mutation	SNP	C	C	T	rs374291976		TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr19:57132798C>T	ENST00000328070.6	+	3	377	c.143C>T	c.(142-144)cCg>cTg	p.P48L		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	48					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)			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		CCAGAGAGGCCGCGGGGAGAT	0.617																																						ENST00000328070.6																			0				endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26						c.(142-144)cCg>cTg		zinc finger protein 71		C	LEU/PRO	0,4406		0,0,2203	33.0	35.0	34.0		143	-6.0	0.0	19		34	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNF71	NM_021216.4	98	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	48/490	57132798	1,13005	2203	4300	6503	SO:0001583	missense	58491					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57132798C>T	X60074	CCDS12947.1	19q13.4	2013-01-08	2006-05-12			ENSG00000197951		"""Zinc fingers, C2H2-type"""	13141	protein-coding gene	gene with protein product		194545	"""zinc finger protein 71 (Cos26)"""			1639391	Standard	NM_021216		Approved	Cos26, EZFIT	uc002qnm.4	Q9NQZ8		ENST00000328070.6:c.143C>T	19.37:g.57132798C>T	ENSP00000328245:p.Pro48Leu		Somatic					p.P48L	NM_021216.4	NP_067039.1	WXS	Illumina GAIIx	Phase_I	Q9NQZ8	ZNF71_HUMAN		GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)	3	377	+			48					Q15919|Q9UC09|Q9UQD3	Missense_Mutation	SNP	ENST00000328070.6	37	c.143C>T	CCDS12947.1	.	.	.	.	.	.	.	.	.	.	C	0.498	-0.872253	0.02570	0.0	1.16E-4	ENSG00000197951	ENST00000328070	T	0.06849	3.25	3.01	-6.03	0.02185	.	.	.	.	.	T	0.04363	0.0120	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.28839	-1.0031	9	0.48119	T	0.1	.	2.3552	0.04293	0.1296:0.3823:0.2465:0.2416	.	48	Q9NQZ8	ZNF71_HUMAN	L	48	ENSP00000328245:P48L	ENSP00000328245:P48L	P	+	2	0	ZNF71	61824610	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-5.485000	0.00118	-4.780000	0.00032	-3.822000	0.00019	CCG		0.617	ZNF71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459798.2	NM_021216		9	53	9	53	---	---	---	---
GRIK1	2897	broad.mit.edu	37	21	31062069	31062069	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr21:31062069C>T	ENST00000399907.1	-	3	934	c.523G>A	c.(523-525)Gtg>Atg	p.V175M	GRIK1_ENST00000399913.1_Missense_Mutation_p.V175M|GRIK1_ENST00000389124.2_Missense_Mutation_p.V175M|GRIK1_ENST00000327783.4_Missense_Mutation_p.V175M|GRIK1_ENST00000389125.3_Missense_Mutation_p.V175M|GRIK1_ENST00000399914.1_Missense_Mutation_p.V175M|GRIK1_ENST00000535441.1_Missense_Mutation_p.V175M|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000309434.7_Missense_Mutation_p.V175M|GRIK1_ENST00000399909.1_Missense_Mutation_p.V175M	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	175					adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.V175M(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	TCATACACCACTGTCACTGTT	0.433																																						ENST00000399914.1																			2	Substitution - Missense(2)	p.V175M(2)	prostate(2)	NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45						c.(523-525)Gtg>Atg		glutamate receptor, ionotropic, kainate 1	L-Glutamic Acid(DB00142)|Topiramate(DB00273)						216.0	207.0	210.0					21																	31062069		2203	4300	6503	SO:0001583	missense	2897				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity	g.chr21:31062069C>T		CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000399907.1:c.523G>A	21.37:g.31062069C>T	ENSP00000382791:p.Val175Met		Somatic				GRIK1_ENST00000389124.2_Missense_Mutation_p.V175M|GRIK1_ENST00000309434.7_Missense_Mutation_p.V175M|GRIK1_ENST00000327783.4_Missense_Mutation_p.V175M|GRIK1_ENST00000535441.1_Missense_Mutation_p.V175M|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000399907.1_Missense_Mutation_p.V175M|GRIK1_ENST00000399909.1_Missense_Mutation_p.V175M|GRIK1_ENST00000399913.1_Missense_Mutation_p.V175M|GRIK1_ENST00000389125.3_Missense_Mutation_p.V175M	p.V175M			WXS	Illumina GAIIx	Phase_I	P39086	GRIK1_HUMAN			3	1044	-			175					Q13001|Q86SU9	Missense_Mutation	SNP	ENST00000399907.1	37	c.523G>A	CCDS42913.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.135923	0.77662	.	.	ENSG00000171189	ENST00000327783;ENST00000389125;ENST00000399913;ENST00000399914;ENST00000535441;ENST00000541508;ENST00000389124;ENST00000399907;ENST00000399909;ENST00000309434	D;D;D;D;D;D;D;D;D	0.84223	-1.82;-1.82;-1.82;-1.82;-1.82;-1.82;-1.82;-1.82;-1.82	5.02	4.13	0.48395	Extracellular ligand-binding receptor (1);	0.127164	0.53938	D	0.000057	D	0.91459	0.7304	M	0.75777	2.31	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;0.999	D;D;D;D;D	0.79108	0.992;0.992;0.992;0.992;0.97	D	0.92392	0.5922	10	0.72032	D	0.01	.	14.6144	0.68539	0.1469:0.8531:0.0:0.0	.	175;175;175;175;175	E7EPY9;E9PD61;B7Z3V7;P39086;P39086-2	.;.;.;GRIK1_HUMAN;.	M	175;175;175;175;175;119;175;175;175;175	ENSP00000327687:V175M;ENSP00000373777:V175M;ENSP00000382797:V175M;ENSP00000382798:V175M;ENSP00000446326:V175M;ENSP00000373776:V175M;ENSP00000382791:V175M;ENSP00000382793:V175M;ENSP00000311646:V175M	ENSP00000311646:V175M	V	-	1	0	GRIK1	29983940	1.000000	0.71417	0.858000	0.33744	0.959000	0.62525	5.532000	0.67154	1.313000	0.45069	0.655000	0.94253	GTG		0.433	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171979.1			20	226	20	226	---	---	---	---
DHRSX	207063	broad.mit.edu	37	X	2184932	2184932	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chrX:2184932C>T	ENST00000334651.5	-	5	497	c.445G>A	c.(445-447)Ggc>Agc	p.G149S	DHRSX_ENST00000464935.1_5'UTR	NM_145177.2	NP_660160.2	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked	149							oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TAGTTCAGGCCGAAATGTTCT	0.527													.|||	1	0.000199681	0.0	0.0	5008	,	,		20731	0.001		0.0	False		,,,				2504	0.0					ENST00000334651.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16						c.(445-447)Ggc>Agc		dehydrogenase/reductase (SDR family) X-linked							413.0	363.0	380.0					X																	2184932		2203	4296	6499	SO:0001583	missense	207063						binding|oxidoreductase activity	g.chrX:2184932C>T	AJ293620	CCDS35195.1	Xp22.33 and Yp11.2	2014-05-07	2003-09-12		ENSG00000169084	ENSG00000169084		"""Pseudoautosomal regions / PAR1"""	18399	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 7C, member 6"", ""short chain dehydrogenase/reductase family 46C, member 1"", ""dehydrogenase/reductase (SDR family) Y-linked"""		"""dehydrogenase/reductase (SDR family) X chromosome"""			11731500, 19027726	Standard	NM_145177		Approved	DHRS5X, DHRSXY, DHRSY, DHRS5Y, SDR46C1, SDR7C6	uc004cqf.4	Q8N5I4	OTTHUMG00000021068	ENST00000334651.5:c.445G>A	X.37:g.2184932C>T	ENSP00000334113:p.Gly149Ser		Somatic				DHRSX_ENST00000464935.1_5'UTR	p.G149S	NM_145177.2	NP_660160.2	WXS	Illumina GAIIx	Phase_I	Q8N5I4	DHRSX_HUMAN			5	497	-		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)	149					Q6UWC7|Q8WUS4|Q96GR8|Q9NTF6	Missense_Mutation	SNP	ENST00000334651.5	37	c.445G>A	CCDS35195.1	.	.	.	.	.	.	.	.	.	.	C	15.03	2.713290	0.48517	.	.	ENSG00000169084	ENST00000334651;ENST00000412516;ENST00000444280	T;T;T	0.21543	2.0;2.0;2.0	2.11	2.11	0.27256	NAD(P)-binding domain (1);	0.376135	0.25750	U	0.028549	T	0.40272	0.1110	M	0.67625	2.065	0.22500	N	0.999046	D	0.89917	1.0	D	0.68039	0.955	T	0.17410	-1.0370	10	0.87932	D	0	.	12.246	0.54571	0.0:1.0:0.0:0.0	.	149	Q8N5I4	DHRSX_HUMAN	S	149;126;82	ENSP00000334113:G149S;ENSP00000391778:G126S;ENSP00000402741:G82S	ENSP00000334113:G149S	G	-	1	0	DHRSX	2194932	0.009000	0.17119	0.882000	0.34594	0.715000	0.41141	0.864000	0.27926	0.856000	0.35383	0.272000	0.19324	GGC		0.527	DHRSX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055617.3	NM_145177		23	253	23	253	---	---	---	---
FLNA	2316	broad.mit.edu	37	X	153587627	153587627	+	Silent	SNP	G	G	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chrX:153587627G>A	ENST00000369850.3	-	25	4526	c.4290C>T	c.(4288-4290)ggC>ggT	p.G1430G	FLNA_ENST00000369856.3_5'Flank|FLNA_ENST00000360319.4_Silent_p.G1430G|FLNA_ENST00000422373.1_Silent_p.G1430G|FLNA_ENST00000344736.4_Silent_p.G1430G	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	1430					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)	p.G1430G(2)		breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCACTTGATGGCCACCATAGG	0.612																																						ENST00000422373.1																			2	Substitution - coding silent(2)	p.G1430G(2)	prostate(2)	breast(6)	6						c.(4288-4290)ggC>ggT		filamin A, alpha							53.0	58.0	56.0					X																	153587627		2128	4220	6348	SO:0001819	synonymous_variant	2316				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153587627G>A	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.4290C>T	X.37:g.153587627G>A			Somatic				FLNA_ENST00000369850.3_Silent_p.G1430G|FLNA_ENST00000360319.4_Silent_p.G1430G|FLNA_ENST00000344736.4_Silent_p.G1430G	p.G1430G	NM_001456.3	NP_001447.2	WXS	Illumina GAIIx	Phase_I	P21333	FLNA_HUMAN			25	4538	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		1430					E9KL45|Q5HY53|Q5HY55|Q8NF52	Silent	SNP	ENST00000369850.3	37	c.4290C>T	CCDS48194.1																																																																																				0.612	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			9	69	9	69	---	---	---	---
OR2M7	391196	broad.mit.edu	37	1	248487570	248487570	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr1:248487570delT	ENST00000317965.2	-	1	329	c.301delA	c.(301-303)attfs	p.I101fs		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	101						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	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)			TAGAAGAAAATTTGTGTGGCA	0.468																																						ENST00000317965.2																			0				breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42						c.(301-303)attfs		olfactory receptor, family 2, subfamily M, member 7							187.0	196.0	193.0					1																	248487570		2203	4300	6503	SO:0001589	frameshift_variant	391196				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248487570delT	BK004486	CCDS31111.1	1q44	2012-08-09			ENSG00000177186	ENSG00000177186		"""GPCR / Class A : Olfactory receptors"""	19594	protein-coding gene	gene with protein product							Standard	NM_001004691		Approved		uc010pzk.2	Q8NG81	OTTHUMG00000040461	ENST00000317965.2:c.301delA	1.37:g.248487570delT	ENSP00000324557:p.Ile101fs		Somatic					p.I101fs	NM_001004691.1	NP_001004691.1	WXS	Illumina GAIIx	Phase_I	Q8NG81	OR2M7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	329	-	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)		101					B2RNL0|Q6IEX6	Frame_Shift_Del	DEL	ENST00000317965.2	37	c.301delA	CCDS31111.1																																																																																				0.468	OR2M7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097357.1	NM_001004691		9	513	9	513	---	---	---	---
THADA	63892	broad.mit.edu	37	2	43458187	43458187	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr2:43458187delA	ENST00000405006.4	-	38	6113	c.5762delT	c.(5761-5763)ttgfs	p.L1921fs	AC010883.5_ENST00000423354.1_RNA|THADA_ENST00000415080.2_Frame_Shift_Del_p.L1602fs|THADA_ENST00000405975.2_Frame_Shift_Del_p.L1921fs|THADA_ENST00000330266.7_Intron	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1921										breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				CTTTCCTTCCAAAAAGGCCAG	0.488																																						ENST00000405006.4																			0				breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66						c.(5761-5763)ttgfs		thyroid adenoma associated							54.0	54.0	54.0					2																	43458187		1951	4146	6097	SO:0001589	frameshift_variant	63892						binding	g.chr2:43458187delA	AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.5762delT	2.37:g.43458187delA	ENSP00000385995:p.Leu1921fs		Somatic				THADA_ENST00000405975.2_Frame_Shift_Del_p.L1921fs|AC010883.5_ENST00000423354.1_RNA|THADA_ENST00000330266.7_Intron|THADA_ENST00000415080.2_Frame_Shift_Del_p.L1602fs	p.L1921fs	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	WXS	Illumina GAIIx	Phase_I	Q6YHU6	THADA_HUMAN			38	6113	-		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)	1921					A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Frame_Shift_Del	DEL	ENST00000405006.4	37	c.5762delT	CCDS46268.1																																																																																				0.488	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	NM_022065		7	78	7	78	---	---	---	---
IL1F10	84639	broad.mit.edu	37	2	113832281	113832282	+	Intron	DEL	TC	TC	-			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr2:113832281_113832282delTC	ENST00000393197.2	+	3	539				IL1F10_ENST00000337569.3_Frame_Shift_Del_p.S34fs|IL1F10_ENST00000341010.2_Intron	NM_032556.5	NP_115945.4	Q8WWZ1	IL1FA_HUMAN	interleukin 1 family, member 10 (theta)							extracellular space (GO:0005615)				endometrium(1)|lung(6)|ovary(1)	8						CCTTGACTCTTCTCTCTCTTCC	0.584																																						ENST00000337569.3																			0				endometrium(1)|lung(6)|ovary(1)	8						c.(100-102)tctfs		interleukin 1 family, member 10 (theta)																																				SO:0001627	intron_variant	84639					extracellular space	cytokine activity|interleukin-1 receptor antagonist activity	g.chr2:113832281_113832282delTC	AY026753	CCDS2112.1	2q13	2011-07-14			ENSG00000136697	ENSG00000136697		"""Interleukins and interleukin receptors"""	15552	protein-coding gene	gene with protein product	"""FIL1- theta"", ""interleukin-1 receptor antagonist FKSG75"""	615296				11747621, 11991723, 11991722	Standard	NM_173161		Approved	FKSG75, IL-1HY2, IL-1F10, IL1-theta, MGC11983, MGC119832, MGC119833	uc002tiu.3	Q8WWZ1	OTTHUMG00000131339	ENST00000393197.2:c.119-18TC>-	2.37:g.113832287_113832288delTC			Somatic				IL1F10_ENST00000393197.2_Intron|IL1F10_ENST00000341010.2_Intron	p.S34fs			WXS	Illumina GAIIx	Phase_I	Q8WWZ1	IL1FA_HUMAN			3	175_176	+			34					Q53SR9|Q56AT8|Q7RTZ5|Q969H5|Q9BYX1	Frame_Shift_Del	DEL	ENST00000393197.2	37	c.100_101delTC	CCDS2112.1																																																																																				0.584	IL1F10-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330725.1	NM_173161		16	321	16	321	---	---	---	---
ARHGAP15	55843	broad.mit.edu	37	2	144381770	144381770	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr2:144381770delT	ENST00000295095.6	+	12	1239	c.1072delT	c.(1072-1074)tttfs	p.F359fs		NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	359	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		ACTGAAGATGTTTTTCCGGGA	0.502																																						ENST00000295095.6																			0				endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34						c.(1072-1074)tttfs		Rho GTPase activating protein 15							103.0	96.0	98.0					2																	144381770		2203	4300	6503	SO:0001589	frameshift_variant	55843				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity	g.chr2:144381770delT	AY219338	CCDS2184.1	2q22.2-q22.3	2013-01-10			ENSG00000075884	ENSG00000075884		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	21030	protein-coding gene	gene with protein product		610578				12650940, 11042152	Standard	NM_018460		Approved	BM046	uc002tvm.4	Q53QZ3	OTTHUMG00000131845	ENST00000295095.6:c.1072delT	2.37:g.144381770delT	ENSP00000295095:p.Phe359fs		Somatic					p.F359fs	NM_018460.3	NP_060930.3	WXS	Illumina GAIIx	Phase_I	Q53QZ3	RHG15_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.151)	12	1239	+			359			Rho-GAP.		Q53R36|Q53RD7|Q53RT6|Q53SX9|Q584N9|Q6PJE6|Q86WP1|Q8IXX1|Q9NRL8|Q9NZ77|Q9NZ91	Frame_Shift_Del	DEL	ENST00000295095.6	37	c.1072delT	CCDS2184.1																																																																																				0.502	ARHGAP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254793.2	NM_018460		15	87	15	87	---	---	---	---
ENAM	10117	broad.mit.edu	37	4	71509665	71509666	+	Frame_Shift_Ins	INS	-	-	AG			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr4:71509665_71509666insAG	ENST00000396073.3	+	9	2803_2804	c.2522_2523insAG	c.(2521-2526)ccagagfs	p.PE841fs	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	841					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			ATGAATTCTCCAGAGAGAGAAC	0.421																																						ENST00000396073.3																			0				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6						c.(2521-2526)ccagagfs		enamelin																																				SO:0001589	frameshift_variant	10117				bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel	g.chr4:71509665_71509666insAG	AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464			3344	protein-coding gene	gene with protein product		606585	"""amelogenesis imperfecta 2, hypocalcification (autosomal dominant)"""	AIH2		11978766	Standard	NM_031889		Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.2529_2530dupAG	4.37:g.71509672_71509673dupAG	ENSP00000379383:p.Pro841fs		Somatic				ENAM_ENST00000472903.1_Intron	p.PE841fs	NM_031889.2	NP_114095.2	WXS	Illumina GAIIx	Phase_I	Q9NRM1	ENAM_HUMAN	Lung(101;0.235)		9	2803_2804	+			841					Q17RI5|Q9H3D1	Frame_Shift_Ins	INS	ENST00000396073.3	37	c.2522_2523insAG	CCDS3544.2																																																																																				0.421	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252166.3	NM_031889		15	145	15	145	---	---	---	---
DIMT1	27292	broad.mit.edu	37	5	61688029	61688029	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr5:61688029delT	ENST00000199320.4	-	10	921	c.761delA	c.(760-762)aacfs	p.N254fs	DIMT1_ENST00000506390.1_Frame_Shift_Del_p.N254fs|KIF2A_ENST00000509663.2_Intron	NM_014473.2	NP_055288.1	Q9UNQ2	DIM1_HUMAN	DIM1 dimethyladenosine transferase 1 homolog (S. cerevisiae)	254						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	18S rRNA (adenine(1779)-N(6)/adenine(1780)-N(6))-dimethyltransferase activity (GO:0052909)|poly(A) RNA binding (GO:0044822)|rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)										AATTCTGTAGTTTTTTTCCAA	0.299																																						ENST00000199320.4																			0											c.(760-762)aacfs		DIM1 dimethyladenosine transferase 1 homolog (S. cerevisiae)							111.0	113.0	112.0					5																	61688029		2202	4296	6498	SO:0001589	frameshift_variant	27292					nucleolus	RNA binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity	g.chr5:61688029delT	AF102147	CCDS3981.1	5q12.1	2011-08-11	2011-08-11	2011-08-11	ENSG00000086189	ENSG00000086189			30217	protein-coding gene	gene with protein product		612499	"""DIM1 dimethyladenosine transferase 1-like (S. cerevisiae)"""	DIMT1L		11124703	Standard	NM_014473		Approved	HSA9761	uc003jta.3	Q9UNQ2	OTTHUMG00000131223	ENST00000199320.4:c.761delA	5.37:g.61688029delT	ENSP00000199320:p.Asn254fs		Somatic				DIMT1_ENST00000506390.1_Frame_Shift_Del_p.N254fs|KIF2A_ENST00000509663.2_Intron	p.N254fs	NM_014473.2	NP_055288.1	WXS	Illumina GAIIx	Phase_I	Q9UNQ2	DIMT1_HUMAN			10	921	-			254					O76025|Q9BU77|Q9UES1	Frame_Shift_Del	DEL	ENST00000199320.4	37	c.761delA	CCDS3981.1																																																																																				0.299	DIMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253967.1	NM_014473		7	185	7	185	---	---	---	---
ERCC6	2074	broad.mit.edu	37	10	50680468	50680469	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr10:50680468_50680469delAC	ENST00000355832.5	-	16	2955_2956	c.2877_2878delGT	c.(2875-2880)gtgtacfs	p.Y960fs	RP11-123B3.2_ENST00000423283.1_RNA|ERCC6_ENST00000465653.1_5'Flank|ERCC6_ENST00000542458.1_Frame_Shift_Del_p.Y330fs	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	960	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AGGAGCCTGTACACAGTCACTT	0.55								Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000355832.5																			0				breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(2875-2880)gtgtacfs	Direct reversal of damage;Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 6																																				SO:0001589	frameshift_variant	2074				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding	g.chr10:50680468_50680469delAC	L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"""Cockayne syndrome B protein"""	609413	"""excision repair cross-complementing rodent repair deficiency, complementation group 6"""	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.2877_2878delGT	10.37:g.50680470_50680471delAC	ENSP00000348089:p.Tyr960fs		Somatic				ERCC6_ENST00000542458.1_Frame_Shift_Del_p.Y330fs|RP11-123B3.2_ENST00000423283.1_RNA	p.Y960fs	NM_000124.2	NP_000115.1	WXS	Illumina GAIIx	Phase_I	Q03468	ERCC6_HUMAN			16	2955_2956	-			960			Helicase C-terminal.		D3DX94|Q5W0L9	Frame_Shift_Del	DEL	ENST00000355832.5	37	c.2877_2878delGT	CCDS7229.1																																																																																				0.550	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047990.1	NM_000124		8	298	8	298	---	---	---	---
TCF7L2	6934	broad.mit.edu	37	10	114925494	114925494	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr10:114925494delC	ENST00000355995.4	+	15	2130	c.1623delC	c.(1621-1623)gacfs	p.D541fs	TCF7L2_ENST00000369386.1_3'UTR|TCF7L2_ENST00000543371.1_Frame_Shift_Del_p.D524fs|TCF7L2_ENST00000538897.1_3'UTR|TCF7L2_ENST00000466338.1_3'UTR|TCF7L2_ENST00000369397.4_Frame_Shift_Del_p.D518fs|TCF7L2_ENST00000542695.1_Frame_Shift_Del_p.D257fs|TCF7L2_ENST00000355717.4_3'UTR|TCF7L2_ENST00000536810.1_Frame_Shift_Del_p.D524fs|TCF7L2_ENST00000545257.1_Frame_Shift_Del_p.D541fs			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	541					blood vessel development (GO:0001568)|bone mineralization (GO:0030282)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|catenin import into nucleus (GO:0035411)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cellular response to starvation (GO:0009267)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic hindgut morphogenesis (GO:0048619)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|generation of neurons (GO:0048699)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen metabolic process (GO:0005977)|insulin metabolic process (GO:1901142)|maintenance of DNA repeat elements (GO:0043570)|multicellular organism growth (GO:0035264)|myoblast fate commitment (GO:0048625)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of organ growth (GO:0046621)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neural tube development (GO:0021915)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of insulin secretion (GO:0032024)|positive regulation of protein binding (GO:0032092)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|post-embryonic development (GO:0009791)|regulation of hormone metabolic process (GO:0032350)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of myelination (GO:0031641)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of skeletal muscle tissue development (GO:0048641)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|secretory granule localization (GO:0032252)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	beta-catenin-TCF7L2 complex (GO:0070369)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|gamma-catenin binding (GO:0045295)|nuclear hormone receptor binding (GO:0035257)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		TGAAGCCCGACCCCCTGGCCC	0.697			T	VTI1A	colorectal																																	ENST00000355995.4				Dom	yes		10	10q25.3	6934	T	transcription factor 7-like 2			E	VTI1A		colorectal	VTI1A/TCF7L2(8)	0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41						c.(1621-1623)gacfs		transcription factor 7-like 2 (T-cell specific, HMG-box)							55.0	62.0	60.0					10																	114925494		2203	4300	6503	SO:0001589	frameshift_variant	6934				anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr10:114925494delC	X62871	CCDS7576.1, CCDS53578.1, CCDS55729.1, CCDS73196.1, CCDS73197.1, CCDS73198.1	10q25.3	2006-11-24			ENSG00000148737	ENSG00000148737			11641	protein-coding gene	gene with protein product		602228		TCF4		1741298	Standard	NM_001146283		Approved	TCF-4	uc001lae.4	Q9NQB0	OTTHUMG00000019070	ENST00000355995.4:c.1623delC	10.37:g.114925494delC	ENSP00000348274:p.Asp541fs		Somatic				TCF7L2_ENST00000538897.1_3'UTR|TCF7L2_ENST00000466338.1_3'UTR|TCF7L2_ENST00000543371.1_Frame_Shift_Del_p.D524fs|TCF7L2_ENST00000545257.1_Frame_Shift_Del_p.D541fs|TCF7L2_ENST00000542695.1_Frame_Shift_Del_p.D257fs|TCF7L2_ENST00000369386.1_3'UTR|TCF7L2_ENST00000369397.4_Frame_Shift_Del_p.D518fs|TCF7L2_ENST00000536810.1_Frame_Shift_Del_p.D524fs|TCF7L2_ENST00000355717.4_3'UTR	p.D541fs			WXS	Illumina GAIIx	Phase_I	Q9NQB0	TF7L2_HUMAN		Epithelial(162;0.00554)|all cancers(201;0.02)	15	2130	+		Breast(234;0.058)|Colorectal(252;0.0615)	541					B4DRJ8|B9X074|C6ZRJ8|C6ZRK0|E2GH14|E2GH19|E2GH20|E2GH24|E2GH25|E9PFH9|F8W742|F8W7T5|O00185|Q9NQB1|Q9NQB2|Q9NQB3|Q9NQB4|Q9NQB5|Q9NQB6|Q9NQB7|Q9ULC2	Frame_Shift_Del	DEL	ENST00000355995.4	37	c.1623delC																																																																																					0.697	TCF7L2-203	KNOWN	basic	protein_coding	protein_coding		NM_030756		49	188	49	188	---	---	---	---
TRIM5	85363	broad.mit.edu	37	11	5686351	5686352	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr11:5686351_5686352insT	ENST00000380034.3	-	8	1425_1426	c.1169_1170insA	c.(1168-1170)aatfs	p.N390fs	TRIM5_ENST00000396853.4_Intron|TRIM5_ENST00000305836.5_Frame_Shift_Ins_p.N390fs|TRIM5_ENST00000396855.3_Intron|TRIM5_ENST00000483835.1_Intron|TRIM5_ENST00000396847.3_3'UTR|TRIM5_ENST00000380027.1_Intron	NM_033034.2|NM_033092.2	NP_149023.2|NP_149083.2	Q9C035	TRIM5_HUMAN	tripartite motif containing 5	390	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				activation of innate immune response (GO:0002218)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein K63-linked ubiquitination (GO:0070534)|protein trimerization (GO:0070206)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|signaling pattern recognition receptor activity (GO:0008329)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		GATAATTTTCATTTTTTTCAAT	0.421																																						ENST00000305836.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(1168-1170)aatfs		tripartite motif containing 5																																				SO:0001589	frameshift_variant	85363				interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding	g.chr11:5686351_5686352insT	AF220025	CCDS31392.1, CCDS31393.1, CCDS31394.1	11p15	2014-06-03	2011-01-25		ENSG00000132256	ENSG00000132256		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16276	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM5"", ""tripartite motif protein TRIM"""	608487	"""tripartite motif-containing 5"""			11331580	Standard	NM_033034		Approved	RNF88, TRIM5alpha	uc001mbm.2	Q9C035	OTTHUMG00000066893	ENST00000380034.3:c.1170dupA	11.37:g.5686358_5686358dupT	ENSP00000369373:p.Asn390fs		Somatic				TRIM5_ENST00000483835.1_Intron|TRIM5_ENST00000396853.4_Intron|TRIM5_ENST00000380027.1_Intron|TRIM5_ENST00000396855.3_Intron|TRIM5_ENST00000380034.3_Frame_Shift_Ins_p.N390fs|TRIM5_ENST00000396847.3_3'UTR	p.N390fs			WXS	Illumina GAIIx	Phase_I	Q9C035	TRIM5_HUMAN		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)	8	1471_1472	-		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)	390			B30.2/SPRY.		A6NGQ1|A8WFA8|D3DQS8|D3DQS9|G3GJY1|Q2MLV4|Q2MLV8|Q2MLV9|Q2MLW1|Q2MLW3|Q2MLW4|Q2MLW6|Q2MLW7|Q2MLX1|Q2MLX2|Q2MLX3|Q2MLX5|Q2MLY3|Q2MLY4|Q2V6Q6|Q6GX26|Q8WU46|Q96SR5|Q9C031|Q9C032|Q9C033|Q9C034	Frame_Shift_Ins	INS	ENST00000380034.3	37	c.1169_1170insA	CCDS31393.1																																																																																				0.421	TRIM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143360.3	NM_033034		11	223	11	223	---	---	---	---
SNRPN	6638	broad.mit.edu	37	15	25223444	25223444	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr15:25223444delC	ENST00000400100.1	+	12	1554	c.664delC	c.(664-666)cccfs	p.P225fs	SNRPN_ENST00000346403.6_Frame_Shift_Del_p.P225fs|SNURF_ENST00000551312.2_Intron|SNRPN_ENST00000390687.4_Frame_Shift_Del_p.P225fs|SNRPN_ENST00000444203.2_Frame_Shift_Del_p.P229fs|SNRPN_ENST00000577565.1_Frame_Shift_Del_p.P225fs|SNURF_ENST00000338094.6_3'UTR|SNHG14_ENST00000551631.2_RNA|SNRPN_ENST00000400097.1_Frame_Shift_Del_p.P225fs|SNRPN_ENST00000554227.2_Frame_Shift_Del_p.P229fs|SNRPN_ENST00000400098.1_Frame_Shift_Del_p.P225fs	NM_022807.2	NP_073718.1	P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	225	Repeat-rich region.				response to hormone (GO:0009725)|RNA splicing (GO:0008380)	small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U2 snRNP (GO:0005686)	RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		GGGAATGAGACCCCCTCCACC	0.552									Prader-Willi syndrome																													ENST00000444203.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24						c.(676-678)cccfs		small nuclear ribonucleoprotein polypeptide N							139.0	137.0	138.0					15																	25223444		1900	4112	6012	SO:0001589	frameshift_variant	6638	Prader-Willi syndrome	Familial Cancer Database	Prader-Labhart-Willi syndrome	RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding	g.chr15:25223444delC	L80005	CCDS10017.1	15q11.2	2013-07-16			ENSG00000128739	ENSG00000128739			11164	protein-coding gene	gene with protein product	"""tissue-specific splicing protein"", ""SM protein N"", ""small nuclear ribonucleoprotein N"""	182279	"""Prader-Willi syndrome chromosome region"""	PWCR		1533223	Standard	NM_022805		Approved	SMN, SM-D, HCERN3, SNRNP-N, SNURF-SNRPN, RT-LI	uc001ywt.1	P63162	OTTHUMG00000129180	ENST00000400100.1:c.664delC	15.37:g.25223444delC	ENSP00000382972:p.Pro225fs		Somatic				SNURF_ENST00000338094.6_3'UTR|SNURF_ENST00000551312.2_Intron|SNRPN_ENST00000346403.6_Frame_Shift_Del_p.P225fs|SNRPN_ENST00000390687.4_Frame_Shift_Del_p.P225fs|SNRPN_ENST00000554227.2_Frame_Shift_Del_p.P229fs|SNRPN_ENST00000400100.1_Frame_Shift_Del_p.P225fs|SNRPN_ENST00000577565.1_Frame_Shift_Del_p.P225fs|SNRPN_ENST00000400097.1_Frame_Shift_Del_p.P225fs|SNRPN_ENST00000400098.1_Frame_Shift_Del_p.P225fs	p.P229fs			WXS	Illumina GAIIx	Phase_I	P63162	RSMN_HUMAN		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)	7	1715	+		all_cancers(20;9.33e-22)|Breast(32;0.000625)	225			Repeat-rich region.		B3KVR1|P14648|P17135|Q0D2Q5	Frame_Shift_Del	DEL	ENST00000400100.1	37	c.676delC	CCDS10017.1																																																																																				0.552	SNRPN-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413849.10	NM_003097		14	256	14	256	---	---	---	---
