#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
ZFAND4	93550	broad.mit.edu	37	10	46122443	46122443	+	Silent	SNP	A	A	G			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr10:46122443A>G	ENST00000344646.5	-	7	1043	c.828T>C	c.(826-828)ggT>ggC	p.G276G	ZFAND4_ENST00000374370.1_5'UTR|ZFAND4_ENST00000374371.2_Intron|ZFAND4_ENST00000374366.3_Silent_p.G202G	NM_001128324.2|NM_174890.2	NP_001121796.1|NP_777550.2	Q86XD8	ZFAN4_HUMAN	zinc finger, AN1-type domain 4	276							zinc ion binding (GO:0008270)										AACAAGATTGACCAATGTTGG	0.478																																						ENST00000374366.3																			0											c.(604-606)ggT>ggC		zinc finger, AN1-type domain 4							100.0	91.0	94.0					10																	46122443		2203	4300	6503	SO:0001819	synonymous_variant	93550						zinc ion binding	g.chr10:46122443A>G	AF311324	CCDS7214.1, CCDS60520.1	10q11.22	2013-01-09	2011-11-10	2011-11-10	ENSG00000172671	ENSG00000172671		"""Zinc fingers, AN1-type domain containing"""	23504	protein-coding gene	gene with protein product			"""AN1, ubiquitin-like, homolog (Xenopus laevis)"""	ANUBL1			Standard	XM_005271837		Approved	FLJ40185	uc001jcp.4	Q86XD8	OTTHUMG00000018085	ENST00000344646.5:c.828T>C	10.37:g.46122443A>G						ZFAND4_ENST00000344646.5_Silent_p.G276G|ZFAND4_ENST00000374371.2_Intron|ZFAND4_ENST00000374370.1_5'UTR	p.G202G			Q86XD8	ANUB1_HUMAN			8	1071	-			276					A8K8V4|B2RAX2|Q5VVY5	Silent	SNP	ENST00000344646.5	37	c.606T>C	CCDS7214.1																																																																																				0.478	ZFAND4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047790.1	NM_174890		5	106	0	0	0	1	0	5	106				
PLA1A	51365	broad.mit.edu	37	3	119336993	119336993	+	Silent	SNP	G	G	A			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr3:119336993G>A	ENST00000273371.4	+	7	954	c.882G>A	c.(880-882)ctG>ctA	p.L294L	PLA1A_ENST00000494440.1_Silent_p.L278L|PLA1A_ENST00000495992.1_Silent_p.L278L|PLA1A_ENST00000488919.1_Silent_p.L121L	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	294					lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|phosphatidylserine metabolic process (GO:0006658)	extracellular vesicular exosome (GO:0070062)	phosphatidylcholine 1-acylhydrolase activity (GO:0008970)			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GACGCTGTCTGGATTGCTTTA	0.522																																						ENST00000273371.4																			0				NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(880-882)ctG>ctA		phospholipase A1 member A							330.0	313.0	319.0					3																	119336993		2203	4300	6503	SO:0001819	synonymous_variant	51365				lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity	g.chr3:119336993G>A	AF035268	CCDS2991.1, CCDS56268.1, CCDS56269.1	3q13.13-q13.2	2002-11-28			ENSG00000144837	ENSG00000144837			17661	protein-coding gene	gene with protein product		607460				10196188	Standard	NM_015900		Approved	ps-PLA1	uc003ecu.3	Q53H76	OTTHUMG00000159425	ENST00000273371.4:c.882G>A	3.37:g.119336993G>A						PLA1A_ENST00000488919.1_Silent_p.L121L|PLA1A_ENST00000495992.1_Silent_p.L278L|PLA1A_ENST00000494440.1_Silent_p.L278L	p.L294L	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN			7	954	+			294					B2R8V2|B4DXA2|O95991|Q86WX6|Q9UPD2	Silent	SNP	ENST00000273371.4	37	c.882G>A	CCDS2991.1																																																																																				0.522	PLA1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355252.2			5	361	0	0	0	1	0	5	361				
PPP1R26	9858	broad.mit.edu	37	9	138377994	138377994	+	Silent	SNP	G	G	A			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr9:138377994G>A	ENST00000356818.2	+	4	2187	c.1638G>A	c.(1636-1638)gcG>gcA	p.A546A	PPP1R26_ENST00000604351.1_Silent_p.A546A|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605660.1_Silent_p.A546A|PPP1R26_ENST00000605286.1_Silent_p.A546A|PPP1R26_ENST00000401470.3_Silent_p.A546A	NM_014811.3	NP_055626.3	Q5T8A7	PPR26_HUMAN	protein phosphatase 1, regulatory subunit 26	546					negative regulation of phosphatase activity (GO:0010923)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										CCCTAAAGGCGCAGTCAGGGA	0.627																																						ENST00000356818.2																			0											c.(1636-1638)gcG>gcA		protein phosphatase 1, regulatory subunit 26							100.0	106.0	104.0					9																	138377994		2203	4300	6503	SO:0001819	synonymous_variant	9858					nucleolus	protein binding	g.chr9:138377994G>A	AB014549	CCDS6988.1	9q34.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000196422	ENSG00000196422		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29089	protein-coding gene	gene with protein product	"""DRIM/UTP20 interacting protein"", ""1A6/DRIM (down-regulated in metastasis) interacting protein"""	614056	"""KIAA0649"""	KIAA0649		9734811, 16053918	Standard	NM_014811		Approved		uc004cfr.1	Q5T8A7	OTTHUMG00000020904	ENST00000356818.2:c.1638G>A	9.37:g.138377994G>A						PPP1R26_ENST00000401470.3_Silent_p.A546A|PPP1R26_ENST00000605286.1_Silent_p.A546A|PPP1R26_ENST00000605660.1_Silent_p.A546A|PPP1R26_ENST00000604351.1_Silent_p.A546A|PPP1R26_ENST00000602993.1_Intron	p.A546A	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN			4	2187	+			546					Q86WU0|Q8WVV0|Q9Y4D3	Silent	SNP	ENST00000356818.2	37	c.1638G>A	CCDS6988.1																																																																																				0.627	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054987.1	NM_014811		5	191	0	0	0	1	0	5	191				
ZNF638	27332	broad.mit.edu	37	2	71655779	71655779	+	Missense_Mutation	SNP	A	A	C			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr2:71655779A>C	ENST00000409544.1	+	25	6278	c.5648A>C	c.(5647-5649)gAa>gCa	p.E1883A	ZNF638_ENST00000264447.4_Missense_Mutation_p.E1883A|ZNF638_ENST00000409407.1_Missense_Mutation_p.E823A|ZNF638_ENST00000355812.3_3'UTR	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1883					regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						CAGATGAGTGAAGGTAAAGCA	0.398																																						ENST00000409544.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						c.(5647-5649)gAa>gCa		zinc finger protein 638							89.0	93.0	92.0					2																	71655779		2203	4300	6503	SO:0001583	missense	27332				RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding	g.chr2:71655779A>C	D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"""RNA binding motif (RRM) containing"""	17894	protein-coding gene	gene with protein product		614349	"""zinc finger, matrin-like"""	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.5648A>C	2.37:g.71655779A>C	ENSP00000386433:p.Glu1883Ala					ZNF638_ENST00000409407.1_Missense_Mutation_p.E823A|ZNF638_ENST00000355812.3_3'UTR|ZNF638_ENST00000264447.4_Missense_Mutation_p.E1883A	p.E1883A	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN			25	6278	+			1883					B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Missense_Mutation	SNP	ENST00000409544.1	37	c.5648A>C	CCDS1917.1	.	.	.	.	.	.	.	.	.	.	A	14.15	2.450449	0.43531	.	.	ENSG00000075292	ENST00000264447;ENST00000409544;ENST00000409407	T;T;T	0.33438	1.41;1.41;1.85	5.41	4.21	0.49690	.	0.120044	0.37955	N	0.001877	T	0.22126	0.0533	L	0.29908	0.895	0.80722	D	1	P;P	0.38767	0.597;0.646	B;B	0.42851	0.4;0.175	T	0.03121	-1.1070	10	0.15952	T	0.53	-17.1958	7.1932	0.25837	0.7506:0.0:0.0:0.2494	.	1883;1883	Q14966-3;Q14966	.;ZN638_HUMAN	A	1883;1883;823	ENSP00000264447:E1883A;ENSP00000386433:E1883A;ENSP00000386813:E823A	ENSP00000264447:E1883A	E	+	2	0	ZNF638	71509287	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	0.740000	0.26188	2.060000	0.61445	0.402000	0.26972	GAA		0.398	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	NM_014497		40	52	0	0	0	1	0	40	52				
LRRC37A4P	55073	broad.mit.edu	37	17	43587730	43587730	+	RNA	SNP	A	A	C			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr17:43587730A>C	ENST00000579913.1	-	0	1394				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		GTATTGATTCATTTTATTCAT	0.343																																						ENST00000253803.2																			0																																																			0							g.chr17:43587730A>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587730A>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.343	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		4	60	0	0	0	1	0	4	60				
GMIP	51291	broad.mit.edu	37	19	19751149	19751149	+	Missense_Mutation	SNP	T	T	G			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr19:19751149T>G	ENST00000203556.4	-	6	522	c.385A>C	c.(385-387)Acc>Ccc	p.T129P	GMIP_ENST00000445806.2_Missense_Mutation_p.T129P|GMIP_ENST00000587238.1_Missense_Mutation_p.T129P	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	129					intracellular signal transduction (GO:0035556)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						ATCTTCATGGTGCTCTTAGCA	0.607																																						ENST00000203556.4																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(385-387)Acc>Ccc		GEM interacting protein							69.0	76.0	73.0					19																	19751149		2203	4300	6503	SO:0001583	missense	51291				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity	g.chr19:19751149T>G	AF132541	CCDS12408.1, CCDS74318.1	19p13.11	2011-09-07				ENSG00000089639		"""Rho GTPase activating proteins"""	24852	protein-coding gene	gene with protein product		609694				12093360, 16086184	Standard	XM_005259927		Approved	ARHGAP46	uc002nnd.3	Q9P107		ENST00000203556.4:c.385A>C	19.37:g.19751149T>G	ENSP00000203556:p.Thr129Pro					GMIP_ENST00000445806.2_Missense_Mutation_p.T129P|GMIP_ENST00000587238.1_Missense_Mutation_p.T129P	p.T129P	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN			6	522	-			129					A0AVN9|B7ZLZ0	Missense_Mutation	SNP	ENST00000203556.4	37	c.385A>C	CCDS12408.1	.	.	.	.	.	.	.	.	.	.	T	12.25	1.880245	0.33162	.	.	ENSG00000089639	ENST00000203556;ENST00000445806	T;T	0.41400	1.0;1.0	4.98	0.201	0.15186	.	0.480369	0.17476	N	0.172895	T	0.20740	0.0499	N	0.14661	0.345	0.09310	N	1	P;P;P	0.36616	0.561;0.561;0.561	B;B;B	0.34385	0.181;0.181;0.181	T	0.12243	-1.0555	10	0.87932	D	0	-6.413	4.8471	0.13519	0.0:0.2632:0.1522:0.5845	.	129;129;129	E7ERB7;B7ZLZ0;Q9P107	.;.;GMIP_HUMAN	P	129	ENSP00000203556:T129P;ENSP00000397075:T129P	ENSP00000203556:T129P	T	-	1	0	GMIP	19612149	0.000000	0.05858	0.051000	0.19133	0.698000	0.40448	-0.292000	0.08332	-0.023000	0.13963	0.459000	0.35465	ACC		0.607	GMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460551.1	NM_016573		4	88	0	0	0	1	0	4	88				
CSF2RA	1438	broad.mit.edu	37	X	1413280	1413280	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chrX:1413280C>T	ENST00000381524.3	+	8	892	c.706C>T	c.(706-708)Cgg>Tgg	p.R236W	MIR3690_ENST00000580266.1_RNA|BX649553.4_ENST00000580687.1_RNA|CSF2RA_ENST00000381500.1_Missense_Mutation_p.R236W|CSF2RA_ENST00000355432.3_Missense_Mutation_p.R236W|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000361536.3_Missense_Mutation_p.R236W|BX649553.2_ENST00000578699.1_RNA|CSF2RA_ENST00000498153.1_3'UTR|CSF2RA_ENST00000501036.2_Missense_Mutation_p.R103W|CSF2RA_ENST00000417535.2_Missense_Mutation_p.R236W|CSF2RA_ENST00000432318.2_Missense_Mutation_p.R236W|CSF2RA_ENST00000381529.3_Missense_Mutation_p.R236W|CSF2RA_ENST00000381509.3_Missense_Mutation_p.R236W|BX649553.3_ENST00000581137.1_RNA|CSF2RA_ENST00000355805.2_Intron|BX649553.1_ENST00000583047.1_RNA			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	236	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				response to ethanol (GO:0045471)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	CTGCCTCGTACGGTGGAAACA	0.592																																					Esophageal Squamous(131;723 1707 25334 40494 41806)	ENST00000381524.3																			0				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45						c.(706-708)Cgg>Tgg		colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	Sargramostim(DB00020)						372.0	300.0	325.0					X																	1413280		2203	4296	6499	SO:0001583	missense	0					extracellular region|integral to plasma membrane	cytokine receptor activity	g.chrX:1413280C>T	M64445	CCDS35190.1, CCDS35191.1, CCDS35192.1, CCDS35193.1, CCDS55359.1, CCDS55360.1, CCDS55361.1	Xp22.32 and Yp11.3	2014-09-17			ENSG00000198223	ENSG00000198223		"""CD molecules"", ""Pseudoautosomal regions / PAR1"""	2435	protein-coding gene	gene with protein product		306250, 425000		CSF2R		1702217	Standard	NM_006140		Approved	CD116	uc010ncv.2	P15509	OTTHUMG00000012533	ENST00000381524.3:c.706C>T	X.37:g.1413280C>T	ENSP00000370935:p.Arg236Trp					CSF2RA_ENST00000498153.1_3'UTR|CSF2RA_ENST00000355432.3_Missense_Mutation_p.R236W|CSF2RA_ENST00000381500.1_Missense_Mutation_p.R236W|CSF2RA_ENST00000381529.3_Missense_Mutation_p.R236W|CSF2RA_ENST00000432318.2_Missense_Mutation_p.R236W|CSF2RA_ENST00000361536.3_Missense_Mutation_p.R236W|CSF2RA_ENST00000417535.2_Missense_Mutation_p.R236W|CSF2RA_ENST00000381509.3_Missense_Mutation_p.R236W|CSF2RA_ENST00000355805.2_Intron|CSF2RA_ENST00000501036.2_Missense_Mutation_p.R103W	p.R236W			P15509	CSF2R_HUMAN			8	892	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	236					A7J003|A8KAM1|B4DW68|J3JS76|J3JS77|O00207|Q14429|Q14430|Q14431|Q16564	Missense_Mutation	SNP	ENST00000381524.3	37	c.706C>T	CCDS35191.1	.	.	.	.	.	.	.	.	.	.	.	7.567	0.665913	0.14710	.	.	ENSG00000198223	ENST00000381529;ENST00000432318;ENST00000361536;ENST00000381507;ENST00000501036;ENST00000381524;ENST00000412290;ENST00000381509;ENST00000355432;ENST00000417535;ENST00000381500	D;D;D;D;D;T;D;D;D;D	0.86297	-2.1;-2.1;-2.1;-2.1;-2.1;0.82;-2.1;-2.1;-2.1;-2.1	1.54	0.502	0.16932	Fibronectin, type III (2);Immunoglobulin-like fold (1);	7739.340000	0.01003	U	0.003703	T	0.76744	0.4030	.	.	.	0.09310	N	1	P;B;P;P;B	0.43477	0.519;0.164;0.519;0.808;0.164	B;B;B;B;B	0.26614	0.035;0.018;0.062;0.071;0.01	T	0.68640	-0.5355	9	0.87932	D	0	.	4.7486	0.13049	0.3636:0.6364:0.0:0.0	.	236;236;236;236;236	P15509-2;A7J003;P15509-3;P15509-5;P15509	.;.;.;.;CSF2R_HUMAN	W	236;236;236;236;103;236;236;236;236;236;236	ENSP00000370940:R236W;ENSP00000416437:R236W;ENSP00000354836:R236W;ENSP00000440491:R103W;ENSP00000370935:R236W;ENSP00000410667:R236W;ENSP00000370920:R236W;ENSP00000347606:R236W;ENSP00000394227:R236W;ENSP00000370911:R236W	ENSP00000347606:R236W	R	+	1	2	CSF2RA	1373280	0.000000	0.05858	0.008000	0.14137	0.065000	0.16274	-0.208000	0.09371	-0.055000	0.13244	0.100000	0.15512	CGG		0.592	CSF2RA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000035013.2			61	95	0	0	0	1	0	61	95				
STAB2	55576	broad.mit.edu	37	12	104140466	104140466	+	Silent	SNP	C	C	T			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr12:104140466C>T	ENST00000388887.2	+	58	6432	c.6228C>T	c.(6226-6228)gaC>gaT	p.D2076D	RP11-341G23.4_ENST00000551299.1_RNA	NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						ATGAAGGTGACGGAATCACAT	0.512																																						ENST00000388887.2																			0				NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						c.(6226-6228)gaC>gaT		stabilin 2							284.0	220.0	241.0					12																	104140466		2203	4300	6503	SO:0001819	synonymous_variant	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104140466C>T	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.6228C>T	12.37:g.104140466C>T						RP11-341G23.4_ENST00000551299.1_RNA	p.D2076D	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN			58	6432	+			2076			EGF-like 15.			Silent	SNP	ENST00000388887.2	37	c.6228C>T	CCDS31888.1																																																																																				0.512	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			16	191	0	0	0	1	0	16	191				
DSP	1832	broad.mit.edu	37	6	7572217	7572217	+	Silent	SNP	C	C	T			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr6:7572217C>T	ENST00000379802.3	+	15	2387	c.2046C>T	c.(2044-2046)tgC>tgT	p.C682C	DSP_ENST00000418664.2_Silent_p.C682C	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	682	Globular 1.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TAGAGCACTGCGAGGGCAGGA	0.443																																						ENST00000379802.3																			0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101						c.(2044-2046)tgC>tgT		desmoplakin							80.0	76.0	77.0					6																	7572217		2203	4300	6503	SO:0001819	synonymous_variant	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7572217C>T	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.2046C>T	6.37:g.7572217C>T						DSP_ENST00000418664.2_Silent_p.C682C	p.C682C	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	15	2387	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	682			Globular 1.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Silent	SNP	ENST00000379802.3	37	c.2046C>T	CCDS4501.1																																																																																				0.443	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		15	23	0	0	0	1	0	15	23				
PTCHD4	442213	broad.mit.edu	37	6	47846107	47846107	+	Nonsense_Mutation	SNP	G	G	A	rs144105703		TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr6:47846107G>A	ENST00000339488.4	-	3	2506	c.2473C>T	c.(2473-2475)Cga>Tga	p.R825*		NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	825						integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)										CTCTCCTTTCGCTTGGCACGT	0.428																																						ENST00000339488.4																			0											c.(2473-2475)Cga>Tga		patched domain containing 4		G	stop/ARG	0,4406		0,0,2203	144.0	145.0	144.0		2473	4.3	1.0	6	dbSNP_134	144	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	C6orf138	NM_001013732.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		825/847	47846107	1,13005	2203	4300	6503	SO:0001587	stop_gained	442213					integral to membrane	hedgehog receptor activity	g.chr6:47846107G>A		CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 138"""	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.2473C>T	6.37:g.47846107G>A	ENSP00000341914:p.Arg825*						p.R825*	NM_001013732.3	NP_001013754.3	Q6ZW05	CF138_HUMAN			3	2506	-			825					B0QZ29|B4DRK3|Q5T884	Nonsense_Mutation	SNP	ENST00000339488.4	37	c.2473C>T	CCDS34473.2	.	.	.	.	.	.	.	.	.	.	G	34	5.310074	0.95629	0.0	1.16E-4	ENSG00000244694	ENST00000339488	.	.	.	6.16	4.28	0.50868	.	0.190267	0.43747	D	0.000524	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	.	14.5173	0.67827	0.0:0.0:0.6364:0.3636	.	.	.	.	X	825	.	ENSP00000341914:R825X	R	-	1	2	C6orf138	47954066	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.438000	0.44837	1.597000	0.50072	0.650000	0.86243	CGA		0.428	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317987.2	NM_001013732		4	153	0	0	0	1	0	4	153				
FAM83G	644815	broad.mit.edu	37	17	18874815	18874815	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr17:18874815C>T	ENST00000388995.6	-	6	2552	c.2329G>A	c.(2329-2331)Gag>Aag	p.E777K	SLC5A10_ENST00000395643.2_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.E777K|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000317977.6_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.E777K|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395645.3_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	777					BMP signaling pathway (GO:0030509)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						GGATGCTCCTCGGTGGCCCTG	0.637																																						ENST00000388995.6																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						c.(2329-2331)Gag>Aag		family with sequence similarity 83, member G							92.0	103.0	99.0					17																	18874815		2008	4158	6166	SO:0001583	missense	644815							g.chr17:18874815C>T	AK123558	CCDS42276.1	17p11.2	2014-05-01	2006-03-22		ENSG00000188522	ENSG00000188522			32554	protein-coding gene	gene with protein product	"""protein associated with SMAD1"""	615886				24554596	Standard	NM_001039999		Approved	FLJ41564, PAWS1	uc002guw.3	A6ND36	OTTHUMG00000059411	ENST00000388995.6:c.2329G>A	17.37:g.18874815C>T	ENSP00000373647:p.Glu777Lys					SLC5A10_ENST00000395643.2_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.E777K|FAM83G_ENST00000585154.2_Missense_Mutation_p.E777K|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395645.3_Intron	p.E777K			A6ND36	FA83G_HUMAN			6	2552	-			777					Q3KQZ4|Q6ZW60	Missense_Mutation	SNP	ENST00000388995.6	37	c.2329G>A	CCDS42276.1	.	.	.	.	.	.	.	.	.	.	C	14.07	2.424537	0.43020	.	.	ENSG00000188522	ENST00000388995;ENST00000345041	T;T	0.14144	2.53;2.53	5.29	3.25	0.37280	.	0.465409	0.22096	N	0.064692	T	0.14056	0.0340	M	0.67953	2.075	0.32835	D	0.504524	B	0.29508	0.246	B	0.15484	0.013	T	0.09100	-1.0690	10	0.32370	T	0.25	-27.8987	10.8091	0.46535	0.0:0.7968:0.1317:0.0715	.	777	A6ND36	FA83G_HUMAN	K	777	ENSP00000373647:E777K;ENSP00000343279:E777K	ENSP00000343279:E777K	E	-	1	0	FAM83G	18815540	0.602000	0.26916	0.180000	0.23079	0.135000	0.20990	2.408000	0.44574	0.694000	0.31654	0.561000	0.74099	GAG		0.637	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253108.4			9	168	0	0	0	1	0	9	168				
COL6A1	1291	broad.mit.edu	37	21	47412311	47412311	+	Splice_Site	SNP	G	G	A			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr21:47412311G>A	ENST00000361866.3	+	18	1385	c.1271G>A	c.(1270-1272)cGg>cAg	p.R424Q		NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	424	Triple-helical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)|protein heterotrimerization (GO:0070208)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)	platelet-derived growth factor binding (GO:0048407)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)		CCCGGGGAGCGGGTGAGTGGG	0.657																																						ENST00000361866.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.e18+1		collagen, type VI, alpha 1	Palifermin(DB00039)						29.0	34.0	32.0					21																	47412311		2201	4299	6500	SO:0001630	splice_region_variant	1291				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding	g.chr21:47412311G>A	M20776	CCDS13727.1	21q22.3	2014-09-17			ENSG00000142156	ENSG00000142156		"""Collagens"""	2211	protein-coding gene	gene with protein product		120220					Standard	XM_006723964		Approved		uc002zhu.1	P12109	OTTHUMG00000090440	ENST00000361866.3:c.1272+1G>A	21.37:g.47412311G>A							p.R424_splice	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN		Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	18	1385	+	all_hematologic(128;0.24)		424			Triple-helical region.		O00117|O00118|Q14040|Q14041|Q16258|Q7Z645|Q9BSA8	Splice_Site	SNP	ENST00000361866.3	37	c.1272_splice	CCDS13727.1	.	.	.	.	.	.	.	.	.	.	G	17.40	3.380822	0.61845	.	.	ENSG00000142156	ENST00000361866;ENST00000538397	D	0.94184	-3.37	4.21	4.21	0.49690	.	0.295374	0.28958	N	0.013585	D	0.91553	0.7332	N	0.11201	0.11	0.58432	D	0.999993	D	0.89917	1.0	D	0.70227	0.968	D	0.89472	0.3744	10	0.17832	T	0.49	-2.2959	15.5835	0.76465	0.0:0.0:1.0:0.0	.	424	P12109	CO6A1_HUMAN	Q	424	ENSP00000355180:R424Q	ENSP00000355180:R424Q	R	+	2	0	COL6A1	46236739	0.972000	0.33761	0.996000	0.52242	0.433000	0.31745	1.031000	0.30165	1.905000	0.55150	0.467000	0.42956	CGG		0.657	COL6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206877.1	NM_001848	Missense_Mutation	13	14	0	0	0	1	0	13	14				
CDKN2C	1031	broad.mit.edu	37	1	51436140	51436140	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr1:51436140C>T	ENST00000262662.1	+	3	2134	c.100C>T	c.(100-102)Caa>Taa	p.Q34*	CDKN2C_ENST00000371761.3_Nonsense_Mutation_p.Q34*|CDKN2C_ENST00000396148.1_Nonsense_Mutation_p.Q34*			P42773	CDN2C_HUMAN	cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)	34					cell cycle arrest (GO:0007050)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of phosphorylation (GO:0042326)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|oligodendrocyte differentiation (GO:0048709)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|protein kinase binding (GO:0019901)	p.0?(11)		central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|thyroid(1)	23				GBM - Glioblastoma multiforme(3;3.61e-13)|all cancers(3;0.00151)		CGTCAATGCACAAAATGGATT	0.483			D		"""glioma, MM"""																																Melanoma(47;50 1155 4767 22863 47597)	ENST00000262662.1				Rec	yes		1	1p32	1031	D	"""cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)"""			"""O, L"""			"""glioma, MM"""		11	Whole gene deletion(11)	p.0?(11)	central_nervous_system(6)|haematopoietic_and_lymphoid_tissue(4)|thyroid(1)	central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|thyroid(1)	23						c.(100-102)Caa>Taa		cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)							104.0	106.0	105.0					1																	51436140		2203	4300	6503	SO:0001587	stop_gained	1031				cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding	g.chr1:51436140C>T	BC000598	CCDS555.1	1p32.3	2013-01-10			ENSG00000123080	ENSG00000123080		"""Ankyrin repeat domain containing"""	1789	protein-coding gene	gene with protein product		603369				8001816, 9636670	Standard	NM_001262		Approved	INK4C, p18	uc001csg.3	P42773	OTTHUMG00000008046	ENST00000262662.1:c.100C>T	1.37:g.51436140C>T	ENSP00000262662:p.Gln34*					CDKN2C_ENST00000371761.3_Nonsense_Mutation_p.Q34*|CDKN2C_ENST00000396148.1_Nonsense_Mutation_p.Q34*	p.Q34*			P42773	CDN2C_HUMAN		GBM - Glioblastoma multiforme(3;3.61e-13)|all cancers(3;0.00151)	3	2134	+			34					Q8TB83	Nonsense_Mutation	SNP	ENST00000262662.1	37	c.100C>T	CCDS555.1	.	.	.	.	.	.	.	.	.	.	C	37	6.328286	0.97476	.	.	ENSG00000123080	ENST00000262662;ENST00000396148;ENST00000371761	.	.	.	5.23	4.28	0.50868	.	0.591918	0.18314	N	0.145010	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.1577	12.9462	0.58373	0.12:0.7505:0.1295:0.0	.	.	.	.	X	34	.	ENSP00000262662:Q34X	Q	+	1	0	CDKN2C	51208728	0.996000	0.38824	1.000000	0.80357	0.996000	0.88848	1.244000	0.32778	2.714000	0.92807	0.655000	0.94253	CAA		0.483	CDKN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022058.1	NM_001262		6	54	0	0	0	1	0	6	54				
DDX43	55510	broad.mit.edu	37	6	74104567	74104567	+	5'UTR	SNP	G	G	A			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr6:74104567G>A	ENST00000370336.4	+	0	97				DDX43_ENST00000539829.1_5'Flank|snoU13_ENST00000459178.1_RNA|OOEP_ENST00000370363.1_De_novo_Start_OutOfFrame	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43						ATP catabolic process (GO:0006200)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						CTCTTACGACGTCACGGTCAG	0.657																																						ENST00000370363.1																			0				large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	8								oocyte expressed protein																																				SO:0001623	5_prime_UTR_variant	441161					cytoplasm		g.chr6:74104567G>A		CCDS4977.1	6q13	2014-01-21			ENSG00000080007	ENSG00000080007		"""DEAD-boxes"""	18677	protein-coding gene	gene with protein product	"""cancer/testis antigen 13"""	606286				10919659	Standard	NM_018665		Approved	HAGE, DKFZp434H2114, CT13	uc003pgw.3	Q9NXZ2	OTTHUMG00000015033	ENST00000370336.4:c.-62G>A	6.37:g.74104567G>A						DDX43_ENST00000370336.4_5'UTR				A6NGQ2	OOEP_HUMAN			0	249	-								B4E0C8|Q6NXR1	Translation_Start_Site	SNP	ENST00000370336.4	37		CCDS4977.1																																																																																				0.657	DDX43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041219.3	NM_018665		3	38	0	0	0	1	0	3	38				
PDS5A	23244	broad.mit.edu	37	4	39922020	39922020	+	Splice_Site	SNP	C	C	G			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr4:39922020C>G	ENST00000303538.8	-	7	1194		c.e7-1		PDS5A_ENST00000503396.1_Splice_Site	NM_001100399.1	NP_001093869.1			PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)											breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						TATTTAAGTTCTGAAAAATAA	0.274																																						ENST00000303538.8																			0				breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						c.e7-1		PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)							60.0	58.0	58.0					4																	39922020		1802	4056	5858	SO:0001630	splice_region_variant	23244				cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding	g.chr4:39922020C>G	AF294791	CCDS47045.1, CCDS54759.1	4p14	2007-06-20			ENSG00000121892	ENSG00000121892			29088	protein-coding gene	gene with protein product		613200				11076961, 15855230	Standard	NM_001100399		Approved	KIAA0648, PIG54, SCC-112	uc003guv.4	Q29RF7	OTTHUMG00000160582	ENST00000303538.8:c.655-1G>C	4.37:g.39922020C>G						PDS5A_ENST00000503396.1_Splice_Site		NM_001100399.1	NP_001093869.1	Q29RF7	PDS5A_HUMAN			7	1194	-									Splice_Site	SNP	ENST00000303538.8	37		CCDS47045.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.295456	0.81025	.	.	ENSG00000121892	ENST00000303538;ENST00000503396	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3845	0.94551	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PDS5A	39598415	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.487000	0.81328	2.576000	0.86940	0.644000	0.83932	.		0.274	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361287.1	NM_015200	Intron	11	20	0	0	0	1	0	11	20				
DNAH1	25981	broad.mit.edu	37	3	52397073	52397073	+	Silent	SNP	C	C	G			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr3:52397073C>G	ENST00000420323.2	+	32	5418	c.5157C>G	c.(5155-5157)ctC>ctG	p.L1719L		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1719	AAA 1. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AGATCTCCCTCTATTCCTTTG	0.537																																						ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(5155-5157)ctC>ctG		dynein, axonemal, heavy chain 1							174.0	175.0	175.0					3																	52397073		2088	4234	6322	SO:0001819	synonymous_variant	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52397073C>G	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.5157C>G	3.37:g.52397073C>G							p.L1719L	NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	32	5418	+			1719			AAA 1 (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Silent	SNP	ENST00000420323.2	37	c.5157C>G	CCDS46842.1																																																																																				0.537	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		57	97	0	0	0	1	0	57	97				
PCDHGC5	56097	broad.mit.edu	37	5	140869683	140869683	+	Silent	SNP	C	C	T			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr5:140869683C>T	ENST00000252087.1	+	1	876	c.876C>T	c.(874-876)ctC>ctT	p.L292L	PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5	292	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCGGAACCTCTTTGGCCTAG	0.537																																						ENST00000252087.1																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(874-876)ctC>ctT									133.0	129.0	130.0					5																	140869683		2203	4300	6503	SO:0001819	synonymous_variant	0				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140869683C>T	AF152526	CCDS4263.1, CCDS75350.1	5q31	2010-01-26			ENSG00000240764	ENSG00000240764		"""Cadherins / Protocadherins : Clustered"""	8718	other	protocadherin		606306				10380929	Standard	NM_018929		Approved	PCDH-GAMMA-C5	uc003lla.2	Q9Y5F6	OTTHUMG00000129624	ENST00000252087.1:c.876C>T	5.37:g.140869683C>T						PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron	p.L292L	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	876	+			292			Cadherin 3.		Q9Y5C2	Silent	SNP	ENST00000252087.1	37	c.876C>T	CCDS4263.1																																																																																				0.537	PCDHGC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251819.1	NM_018929		53	101	0	0	0	1	0	53	101				
EVI2B	2124	broad.mit.edu	37	17	29631826	29631826	+	Missense_Mutation	SNP	A	A	G			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr17:29631826A>G	ENST00000330927.4	-	2	956	c.802T>C	c.(802-804)Tca>Cca	p.S268P	NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron|EVI2B_ENST00000544462.1_Missense_Mutation_p.S283P|EVI2B_ENST00000577894.1_Missense_Mutation_p.S268P	NM_006495.3	NP_006486.3	P34910	EVI2B_HUMAN	ecotropic viral integration site 2B	268						integral component of plasma membrane (GO:0005887)		p.0?(8)|p.?(3)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	12		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)		GAAATGATTGATGTACGTTTT	0.363																																						ENST00000330927.4																			11	Whole gene deletion(8)|Unknown(3)	p.0?(8)|p.?(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	12						c.(802-804)Tca>Cca		ecotropic viral integration site 2B							128.0	120.0	123.0					17																	29631826		2203	4300	6503	SO:0001583	missense	2124					cytoplasm|integral to plasma membrane		g.chr17:29631826A>G		CCDS11266.1	17q11.2	2011-08-11			ENSG00000185862	ENSG00000185862		"""CD molecules"""	3500	protein-coding gene	gene with protein product		158381				1903357	Standard	NM_006495		Approved	D17S376, EVDB, CD361	uc002hgk.2	P34910	OTTHUMG00000132869	ENST00000330927.4:c.802T>C	17.37:g.29631826A>G	ENSP00000333779:p.Ser268Pro					EVI2B_ENST00000577894.1_Missense_Mutation_p.S268P|NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron|EVI2B_ENST00000544462.1_Missense_Mutation_p.S283P	p.S268P	NM_006495.3	NP_006486.3	P34910	EVI2B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)	2	956	-		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)	268					B7Z4A7	Missense_Mutation	SNP	ENST00000330927.4	37	c.802T>C	CCDS11266.1	.	.	.	.	.	.	.	.	.	.	A	13.86	2.363690	0.41902	.	.	ENSG00000185862	ENST00000330927;ENST00000544462	T;T	0.60797	0.17;0.16	5.49	5.49	0.81192	.	0.000000	0.40640	N	0.001054	T	0.61714	0.2369	L	0.32530	0.975	0.80722	D	1	P;D	0.56521	0.94;0.976	P;D	0.64042	0.887;0.921	T	0.62291	-0.6885	10	0.45353	T	0.12	-27.0281	10.0114	0.41988	0.9246:0.0:0.0754:0.0	.	283;268	B7Z4A7;P34910	.;EVI2B_HUMAN	P	268;283	ENSP00000333779:S268P;ENSP00000439738:S283P	ENSP00000333779:S268P	S	-	1	0	EVI2B	26655952	0.999000	0.42202	0.325000	0.25375	0.179000	0.23085	4.539000	0.60657	2.085000	0.62840	0.533000	0.62120	TCA		0.363	EVI2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256349.2	NM_006495		6	131	0	0	0	1	0	6	131				
RP1L1	94137	broad.mit.edu	37	8	10464926	10464926	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr8:10464926C>T	ENST00000382483.3	-	4	6905	c.6682G>A	c.(6682-6684)Gta>Ata	p.V2228I		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	2308	25 X 16 AA approximate tandem repeats of [ED]-[AT]-[PQ]-[ED]-[AVT]-E-[GKE]-[ED]- [AMT]-Q-[EPK]-[EAT]-[TSELP]-[EG]- [EGSQDI]-[AVIE].				cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GGGGTCTCTACGCCTTCTGGC	0.607																																						ENST00000382483.3																			0				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148						c.(6682-6684)Gta>Ata		retinitis pigmentosa 1-like 1							104.0	111.0	109.0					8																	10464926		1911	4112	6023	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10464926C>T	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.6682G>A	8.37:g.10464926C>T	ENSP00000371923:p.Val2228Ile						p.V2228I	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	6905	-			2228					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.6682G>A	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	C	6.821	0.520620	0.13005	.	.	ENSG00000183638	ENST00000382483	T	0.07908	3.15	2.86	1.95	0.26073	.	.	.	.	.	T	0.04182	0.0116	N	0.14661	0.345	0.09310	N	1	P	0.46512	0.879	B	0.35312	0.2	T	0.40776	-0.9545	9	0.38643	T	0.18	.	8.0209	0.30408	0.0:0.8615:0.0:0.1385	.	2228	A6NKC6	.	I	2228	ENSP00000371923:V2228I	ENSP00000371923:V2228I	V	-	1	0	RP1L1	10502336	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.181000	0.16880	0.484000	0.27630	0.484000	0.47621	GTA		0.607	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			8	244	0	0	0	1	0	8	244				
ABCA13	154664	broad.mit.edu	37	7	48682920	48682920	+	Silent	SNP	T	T	C			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr7:48682920T>C	ENST00000435803.1	+	60	14898	c.14874T>C	c.(14872-14874)tgT>tgC	p.C4958C	ABCA13_ENST00000544596.1_Silent_p.C688C	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4958					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTTGGCTCTGTAAGGAAGCAA	0.318																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(14872-14874)tgT>tgC		ATP-binding cassette, sub-family A (ABC1), member 13							200.0	191.0	193.0					7																	48682920		1825	4086	5911	SO:0001819	synonymous_variant	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48682920T>C	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.14874T>C	7.37:g.48682920T>C						ABCA13_ENST00000544596.1_Silent_p.C688C	p.C4958C	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			60	14898	+			4958					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	ENST00000435803.1	37	c.14874T>C	CCDS47584.1																																																																																				0.318	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		20	162	0	0	0	1	0	20	162				
SLC28A1	9154	broad.mit.edu	37	15	85461769	85461769	+	Missense_Mutation	SNP	T	T	G			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr15:85461769T>G	ENST00000286749.3	+	9	900	c.810T>G	c.(808-810)atT>atG	p.I270M	SLC28A1_ENST00000394573.1_Missense_Mutation_p.I270M|SLC28A1_ENST00000537624.1_Missense_Mutation_p.I270M|SLC28A1_ENST00000537703.1_Missense_Mutation_p.I192M|SLC28A1_ENST00000538177.1_Missense_Mutation_p.I270M|SLC28A1_ENST00000537216.1_Missense_Mutation_p.I270M			O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	270					nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside transmembrane transporter activity (GO:0005337)|nucleoside:sodium symporter activity (GO:0005415)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)		Gemcitabine(DB00441)|Stavudine(DB00649)|Zidovudine(DB00495)	TGCCCATCATTGTCTTTTTCA	0.602																																						ENST00000394573.1																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41						c.(808-810)atT>atG		solute carrier family 28 (concentrative nucleoside transporter), member 1							256.0	235.0	243.0					15																	85461769		2203	4299	6502	SO:0001583	missense	9154				nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding	g.chr15:85461769T>G	U62967	CCDS10334.1, CCDS10335.1, CCDS73777.1	15q25.3	2013-07-17	2013-07-17		ENSG00000156222	ENSG00000156222		"""Solute carriers"""	11001	protein-coding gene	gene with protein product		606207	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 1"""			9124315	Standard	NM_004213		Approved	CNT1	uc002blg.3	O00337	OTTHUMG00000148668	ENST00000286749.3:c.810T>G	15.37:g.85461769T>G	ENSP00000286749:p.Ile270Met					SLC28A1_ENST00000537216.1_Missense_Mutation_p.I270M|SLC28A1_ENST00000537624.1_Missense_Mutation_p.I270M|SLC28A1_ENST00000286749.3_Missense_Mutation_p.I270M|SLC28A1_ENST00000538177.1_Missense_Mutation_p.I270M|SLC28A1_ENST00000537703.1_Missense_Mutation_p.I192M	p.I270M	NM_004213.3	NP_004204.3	O00337	S28A1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		10	1012	+			270					A0AV42|A8K7I2|O00335|O00336|Q5U5S6|Q5U648|Q9UEZ9	Missense_Mutation	SNP	ENST00000286749.3	37	c.810T>G	CCDS10334.1	.	.	.	.	.	.	.	.	.	.	T	9.776	1.174036	0.21704	.	.	ENSG00000156222	ENST00000537216;ENST00000538177;ENST00000537624;ENST00000286749;ENST00000394573;ENST00000537703	T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92	4.21	-5.36	0.02689	Nucleoside recognition (1);	0.202747	0.43110	D	0.000614	T	0.62282	0.2415	M	0.89904	3.07	0.31560	N	0.657593	D;B;D;B;P	0.67145	0.981;0.247;0.996;0.161;0.936	D;B;D;B;D	0.72982	0.93;0.358;0.979;0.314;0.93	T	0.66048	-0.6020	10	0.56958	D	0.05	-2.9559	11.9403	0.52896	0.0:0.6779:0.1346:0.1875	.	270;270;270;192;270	B7Z533;F5H560;B7Z3L6;B7Z3M4;O00337	.;.;.;.;S28A1_HUMAN	M	270;270;270;270;270;192	ENSP00000440546:I270M;ENSP00000443752:I270M;ENSP00000444700:I270M;ENSP00000286749:I270M;ENSP00000378074:I270M;ENSP00000443764:I192M	ENSP00000286749:I270M	I	+	3	3	SLC28A1	83262773	0.019000	0.18553	0.015000	0.15790	0.484000	0.33280	-1.128000	0.03247	-1.126000	0.02929	-0.274000	0.10170	ATT		0.602	SLC28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308998.2			68	76	0	0	0	1	0	68	76				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			24	26	0	0	0	1	0	24	26				
PRKACG	5568	broad.mit.edu	37	9	71628437	71628437	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr9:71628437C>T	ENST00000377276.2	-	1	602	c.572G>A	c.(571-573)cGc>cAc	p.R191H		NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic, gamma	191	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|male gonad development (GO:0008584)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	cytosol (GO:0005829)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						GCCCTTCACGCGCTTGGCGAA	0.627																																					Esophageal Squamous(110;2236 2623 32146)	ENST00000377276.2																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						c.(571-573)cGc>cAc		protein kinase, cAMP-dependent, catalytic, gamma							48.0	47.0	48.0					9																	71628437		2203	4300	6503	SO:0001583	missense	5568				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity	g.chr9:71628437C>T	M34182	CCDS6625.1	9q13	2012-10-02			ENSG00000165059	ENSG00000165059	2.7.11.1		9382	protein-coding gene	gene with protein product		176893				2342480, 9598317	Standard	NM_002732		Approved	PKACg	uc004agy.3	P22612	OTTHUMG00000019974	ENST00000377276.2:c.572G>A	9.37:g.71628437C>T	ENSP00000366488:p.Arg191His						p.R191H	NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN			1	602	-			191			Protein kinase.		O60850|Q5VZ02|Q86YI1	Missense_Mutation	SNP	ENST00000377276.2	37	c.572G>A	CCDS6625.1	.	.	.	.	.	.	.	.	.	.	C	12.86	2.064166	0.36373	.	.	ENSG00000165059	ENST00000377276	T	0.66099	-0.19	1.03	1.03	0.20045	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	0.30771	U	0.008917	T	0.47021	0.1423	L	0.38531	1.155	0.28973	N	0.889121	B	0.32245	0.361	B	0.32677	0.15	T	0.45614	-0.9249	10	0.54805	T	0.06	.	7.4815	0.27408	0.0:1.0:0.0:0.0	.	191	P22612	KAPCG_HUMAN	H	191	ENSP00000366488:R191H	ENSP00000366488:R191H	R	-	2	0	PRKACG	70818257	0.047000	0.20315	0.007000	0.13788	0.007000	0.05969	3.736000	0.55052	0.458000	0.26988	0.467000	0.42956	CGC		0.627	PRKACG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052559.1			11	16	0	0	0	1	0	11	16				
ASXL3	80816	broad.mit.edu	37	18	31324832	31324832	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr18:31324832G>A	ENST00000269197.5	+	12	5020	c.5020G>A	c.(5020-5022)Gaa>Aaa	p.E1674K		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1674					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TGAACTTCACGAAGCAGACAA	0.478																																						ENST00000269197.5																			0				breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						c.(5020-5022)Gaa>Aaa		additional sex combs like 3 (Drosophila)							77.0	81.0	80.0					18																	31324832		2028	4196	6224	SO:0001583	missense	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31324832G>A	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.5020G>A	18.37:g.31324832G>A	ENSP00000269197:p.Glu1674Lys						p.E1674K	NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN			12	5020	+			1674					Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	c.5020G>A	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	G	11.21	1.571596	0.28003	.	.	ENSG00000141431	ENST00000269197	T	0.16457	2.34	5.86	5.86	0.93980	.	.	.	.	.	T	0.13372	0.0324	L	0.27053	0.805	0.40577	D	0.981353	P	0.46020	0.871	B	0.32583	0.148	T	0.03278	-1.1053	9	0.66056	D	0.02	.	20.1865	0.98220	0.0:0.0:1.0:0.0	.	1674	Q9C0F0	ASXL3_HUMAN	K	1674	ENSP00000269197:E1674K	ENSP00000269197:E1674K	E	+	1	0	ASXL3	29578830	1.000000	0.71417	0.243000	0.24186	0.058000	0.15608	4.933000	0.63484	2.775000	0.95449	0.655000	0.94253	GAA		0.478	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			50	41	0	0	0	1	0	50	41				
TMEM217	221468	broad.mit.edu	37	6	37186212	37186212	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr6:37186212C>T	ENST00000336655.2	-	2	634	c.595G>A	c.(595-597)Gag>Aag	p.E199K	TMEM217_ENST00000497775.1_Intron|TMEM217_ENST00000356757.2_Missense_Mutation_p.E199K	NM_145316.3	NP_660359.2	Q8N7C4	TM217_HUMAN	transmembrane protein 217	199						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(5)|lung(1)	9						ctctgcctctcaaagtactgg	0.473																																						ENST00000336655.2																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(1)	9						c.(595-597)Gag>Aag		transmembrane protein 217							26.0	28.0	27.0					6																	37186212		2203	4297	6500	SO:0001583	missense	221468					integral to membrane		g.chr6:37186212C>T		CCDS4831.1, CCDS69102.1	6p21.31-p21.2	2008-10-20	2008-07-07	2008-07-07	ENSG00000172738	ENSG00000172738			21238	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 128"""	C6orf128			Standard	NM_001162900		Approved	dJ355M6.2	uc010jws.3	Q8N7C4	OTTHUMG00000014618	ENST00000336655.2:c.595G>A	6.37:g.37186212C>T	ENSP00000338164:p.Glu199Lys					TMEM217_ENST00000497775.1_Intron|TMEM217_ENST00000356757.2_Missense_Mutation_p.E199K	p.E199K	NM_145316.3	NP_660359.2	Q8N7C4	TM217_HUMAN			2	634	-			199					Q8TC54	Missense_Mutation	SNP	ENST00000336655.2	37	c.595G>A	CCDS4831.1	.	.	.	.	.	.	.	.	.	.	C	1.674	-0.508225	0.04231	.	.	ENSG00000172738	ENST00000356757;ENST00000336655	.	.	.	0.149	0.149	0.14863	.	.	.	.	.	T	0.08088	0.0202	N	0.14661	0.345	0.09310	N	1	B;B	0.17038	0.0;0.02	B;B	0.14023	0.0;0.01	T	0.36578	-0.9742	7	0.27785	T	0.31	.	.	.	.	.	199;199	Q8N7C4-2;Q8N7C4	.;TM217_HUMAN	K	199	.	ENSP00000338164:E199K	E	-	1	0	TMEM217	37294190	0.001000	0.12720	0.010000	0.14722	0.016000	0.09150	-0.338000	0.07842	0.192000	0.20272	0.195000	0.17529	GAG		0.473	TMEM217-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000357542.1	NM_145316		5	52	0	0	0	1	0	5	52				
SLC5A5	6528	broad.mit.edu	37	19	18001748	18001748	+	Missense_Mutation	SNP	C	C	T	rs201835225	byFrequency	TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr19:18001748C>T	ENST00000222248.3	+	14	2052	c.1705C>T	c.(1705-1707)Cgg>Tgg	p.R569W		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	569					cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|iodide transport (GO:0015705)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	iodide transmembrane transporter activity (GO:0015111)|sodium:iodide symporter activity (GO:0008507)	p.R569W(1)		NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						GGACCTCGCACGGCAGACAGC	0.602													C|||	3	0.000599042	0.0	0.0014	5008	,	,		15988	0.0		0.001	False		,,,				2504	0.001				Melanoma(65;1008 1708 7910 46650)	ENST00000222248.3																			1	Substitution - Missense(1)	p.R569W(1)	prostate(1)	NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						c.(1705-1707)Cgg>Tgg		solute carrier family 5 (sodium/iodide cotransporter), member 5		C	TRP/ARG	0,4406		0,0,2203	116.0	112.0	113.0		1705	1.2	0.0	19		113	1,8599	1.2+/-3.3	0,1,4299	yes	missense	SLC5A5	NM_000453.2	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	569/644	18001748	1,13005	2203	4300	6503	SO:0001583	missense	6528				cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity	g.chr19:18001748C>T		CCDS12368.1	19p13.11	2013-07-19	2013-07-19		ENSG00000105641	ENSG00000105641		"""Solute carriers"""	11040	protein-coding gene	gene with protein product		601843	"""solute carrier family 5 (sodium iodide symporter), member 5"""			9231811	Standard	NM_000453		Approved	NIS	uc002nhr.4	Q92911		ENST00000222248.3:c.1705C>T	19.37:g.18001748C>T	ENSP00000222248:p.Arg569Trp						p.R569W	NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN			14	2052	+			569					O43702|Q2M335|Q9NYB6	Missense_Mutation	SNP	ENST00000222248.3	37	c.1705C>T	CCDS12368.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.066877	0.36470	0.0	1.16E-4	ENSG00000105641	ENST00000222248	D	0.87029	-2.2	4.71	1.18	0.20946	.	22.923100	0.00166	N	0.000010	D	0.85026	0.5603	L	0.59436	1.845	0.09310	N	1	D	0.56521	0.976	B	0.42653	0.394	T	0.70561	-0.4838	10	0.54805	T	0.06	.	5.1415	0.14961	0.5241:0.3652:0.0:0.1107	.	569	Q92911	SC5A5_HUMAN	W	569	ENSP00000222248:R569W	ENSP00000222248:R569W	R	+	1	2	SLC5A5	17862748	0.002000	0.14202	0.002000	0.10522	0.663000	0.39108	0.255000	0.18333	0.148000	0.19059	0.491000	0.48974	CGG		0.602	SLC5A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466690.1			10	198	0	0	0	1	0	10	198				
ZNF638	27332	broad.mit.edu	37	2	71655742	71655742	+	Missense_Mutation	SNP	G	G	C			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr2:71655742G>C	ENST00000409544.1	+	25	6241	c.5611G>C	c.(5611-5613)Gaa>Caa	p.E1871Q	ZNF638_ENST00000264447.4_Missense_Mutation_p.E1871Q|ZNF638_ENST00000409407.1_Missense_Mutation_p.E811Q|ZNF638_ENST00000355812.3_3'UTR	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1871					regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						TGTTGTGACAGAACCAGCAAA	0.398																																						ENST00000409544.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						c.(5611-5613)Gaa>Caa		zinc finger protein 638							119.0	125.0	123.0					2																	71655742		2203	4300	6503	SO:0001583	missense	27332				RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding	g.chr2:71655742G>C	D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"""RNA binding motif (RRM) containing"""	17894	protein-coding gene	gene with protein product		614349	"""zinc finger, matrin-like"""	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.5611G>C	2.37:g.71655742G>C	ENSP00000386433:p.Glu1871Gln					ZNF638_ENST00000409407.1_Missense_Mutation_p.E811Q|ZNF638_ENST00000355812.3_3'UTR|ZNF638_ENST00000264447.4_Missense_Mutation_p.E1871Q	p.E1871Q	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN			25	6241	+			1871					B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Missense_Mutation	SNP	ENST00000409544.1	37	c.5611G>C	CCDS1917.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.172521	0.78452	.	.	ENSG00000075292	ENST00000264447;ENST00000409544;ENST00000409407	T;T;T	0.43688	0.94;0.94;1.44	5.41	5.41	0.78517	.	0.000000	0.52532	D	0.000070	T	0.52191	0.1719	L	0.34521	1.04	0.80722	D	1	D;P	0.76494	0.999;0.455	D;B	0.83275	0.996;0.214	T	0.41716	-0.9493	10	0.29301	T	0.29	-17.0366	14.6858	0.69049	0.0:0.0:1.0:0.0	.	1871;1871	Q14966-3;Q14966	.;ZN638_HUMAN	Q	1871;1871;811	ENSP00000264447:E1871Q;ENSP00000386433:E1871Q;ENSP00000386813:E811Q	ENSP00000264447:E1871Q	E	+	1	0	ZNF638	71509250	1.000000	0.71417	0.994000	0.49952	0.925000	0.55904	3.006000	0.49529	2.548000	0.85928	0.491000	0.48974	GAA		0.398	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	NM_014497		58	83	0	0	0	1	0	58	83				
LAMC2	3918	broad.mit.edu	37	1	183201823	183201823	+	Missense_Mutation	SNP	T	T	C			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr1:183201823T>C	ENST00000264144.4	+	14	2116	c.2051T>C	c.(2050-2052)gTg>gCg	p.V684A	LAMC2_ENST00000493293.1_Missense_Mutation_p.V684A	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	684	Domain II and I.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	cell cortex (GO:0005938)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-2 complex (GO:0005607)|laminin-5 complex (GO:0005610)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	heparin binding (GO:0008201)			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						TTGGCCAAGGTGAGGAGCCAA	0.527																																						ENST00000264144.4																			0				breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						c.(2050-2052)gTg>gCg		laminin, gamma 2							79.0	82.0	81.0					1																	183201823		2203	4300	6503	SO:0001583	missense	3918				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding	g.chr1:183201823T>C	Z15008	CCDS1352.1, CCDS44285.1	1q25-q31	2013-03-01	2002-08-29		ENSG00000058085	ENSG00000058085		"""Laminins"""	6493	protein-coding gene	gene with protein product		150292	"""laminin, gamma 2 (nicein (100kD), kalinin (105kD), BM600 (100kD), Herlitz junctional epidermolysis bullosa))"""	EBR2, LAMB2T, LAMNB2, EBR2A		1383240	Standard	NM_005562		Approved	nicein-100kDa, kalinin-105kDa, BM600-100kDa	uc001gqa.2	Q13753	OTTHUMG00000035520	ENST00000264144.4:c.2051T>C	1.37:g.183201823T>C	ENSP00000264144:p.Val684Ala					LAMC2_ENST00000493293.1_Missense_Mutation_p.V684A	p.V684A	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN			14	2116	+			684			Domain II and I.		Q02536|Q02537|Q13752|Q14941|Q14DF7|Q2M1N2|Q5VYE8	Missense_Mutation	SNP	ENST00000264144.4	37	c.2051T>C	CCDS1352.1	.	.	.	.	.	.	.	.	.	.	T	6.702	0.498176	0.12762	.	.	ENSG00000058085	ENST00000493293;ENST00000537180;ENST00000264144	T;T	0.18016	2.39;2.24	5.37	-0.709	0.11237	.	0.860675	0.10232	N	0.699568	T	0.04272	0.0118	N	0.00686	-1.255	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.44937	-0.9295	10	0.11182	T	0.66	.	9.3596	0.38188	0.0:0.3358:0.0:0.6642	.	684;684;684	Q2M1N2;Q13753;Q13753-2	.;LAMC2_HUMAN;.	A	684	ENSP00000432063:V684A;ENSP00000264144:V684A	ENSP00000264144:V684A	V	+	2	0	LAMC2	181468446	0.308000	0.24509	0.070000	0.20053	0.564000	0.35744	0.360000	0.20250	-0.162000	0.10964	0.528000	0.53228	GTG		0.527	LAMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086258.1	NM_005562		6	67	0	0	0	1	0	6	67				
IRF3	3661	broad.mit.edu	37	19	50165556	50165556	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr19:50165556G>A	ENST00000597198.1	-	6	1012	c.631C>T	c.(631-633)Cgg>Tgg	p.R211W	IRF3_ENST00000377139.3_Missense_Mutation_p.R211W|IRF3_ENST00000599223.1_Intron|IRF3_ENST00000599680.1_5'Flank|IRF3_ENST00000598808.1_Missense_Mutation_p.R65W|IRF3_ENST00000600022.1_Intron|IRF3_ENST00000601291.1_Missense_Mutation_p.R211W|IRF3_ENST00000593922.1_Missense_Mutation_p.R65W|IRF3_ENST00000596765.1_Intron|IRF3_ENST00000600911.1_Missense_Mutation_p.R211W|IRF3_ENST00000596822.1_Intron|IRF3_ENST00000377135.4_Intron|IRF3_ENST00000309877.7_Missense_Mutation_p.R211W|IRF3_ENST00000599144.1_Missense_Mutation_p.R65W			Q14653	IRF3_HUMAN	interferon regulatory factor 3	211	Involved in HERC5 binding.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dsRNA (GO:0071359)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage apoptotic process (GO:0071888)|MDA-5 signaling pathway (GO:0039530)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of interferon-beta biosynthetic process (GO:0045358)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type I interferon production (GO:0032480)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|programmed necrotic cell death (GO:0097300)|response to exogenous dsRNA (GO:0043330)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1)	10		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02)		TGGCGGCCCCGGTAGAAGGCT	0.667																																						ENST00000597198.1																			0				breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1)	10						c.(631-633)Cgg>Tgg		interferon regulatory factor 3							40.0	45.0	43.0					19																	50165556		2203	4300	6503	SO:0001583	missense	3661				interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr19:50165556G>A		CCDS12775.1, CCDS56099.1, CCDS59407.1, CCDS59408.1, CCDS59409.1	19q13.3-q13.4	2008-07-16				ENSG00000126456			6118	protein-coding gene	gene with protein product		603734				8524823	Standard	NM_001571		Approved		uc002pow.3	Q14653		ENST00000597198.1:c.631C>T	19.37:g.50165556G>A	ENSP00000469113:p.Arg211Trp					IRF3_ENST00000377139.3_Missense_Mutation_p.R211W|IRF3_ENST00000599223.1_Intron|IRF3_ENST00000600911.1_Missense_Mutation_p.R211W|IRF3_ENST00000600022.1_Intron|IRF3_ENST00000596765.1_Intron|IRF3_ENST00000593922.1_Missense_Mutation_p.R65W|IRF3_ENST00000309877.7_Missense_Mutation_p.R211W|IRF3_ENST00000599144.1_Missense_Mutation_p.R65W|IRF3_ENST00000598808.1_Missense_Mutation_p.R65W|IRF3_ENST00000377135.4_Intron|IRF3_ENST00000596822.1_Intron|IRF3_ENST00000601291.1_Missense_Mutation_p.R211W	p.R211W			Q14653	IRF3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02)	6	1012	-		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	211			Involved in HERC5 binding.		A8K7L2|B2RAZ3|Q5FBY1|Q5FBY2|Q5FBY4|Q7Z5G6	Missense_Mutation	SNP	ENST00000597198.1	37	c.631C>T	CCDS12775.1	.	.	.	.	.	.	.	.	.	.	g	21.4	4.148763	0.78001	.	.	ENSG00000126456	ENST00000377139;ENST00000309877	D;D	0.95205	-3.64;-3.64	4.87	2.61	0.31194	SMAD domain-like (1);SMAD/FHA domain (1);Interferon regulatory factor-3 (1);	0.000000	0.85682	D	0.000000	D	0.96552	0.8875	M	0.84948	2.725	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.998;0.997	D	0.95681	0.8732	10	0.87932	D	0	-32.3776	7.1876	0.25809	0.0901:0.0:0.7418:0.1681	.	211;211;211;211	B2RAZ3;Q96GL3;Q7Z5G6;Q14653	.;.;.;IRF3_HUMAN	W	211	ENSP00000366344:R211W;ENSP00000310127:R211W	ENSP00000310127:R211W	R	-	1	2	IRF3	54857368	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.530000	0.36007	1.280000	0.44463	0.651000	0.88453	CGG		0.667	IRF3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465962.1	NM_001571		5	50	0	0	0	1	0	5	50				
PRR16	51334	broad.mit.edu	37	5	120022396	120022396	+	Missense_Mutation	SNP	A	A	T	rs560749074		TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr5:120022396A>T	ENST00000407149.2	+	2	1116	c.907A>T	c.(907-909)Acc>Tcc	p.T303S	PRR16_ENST00000505123.1_Missense_Mutation_p.T233S|PRR16_ENST00000379551.2_Missense_Mutation_p.T280S|PRR16_ENST00000446965.1_Missense_Mutation_p.T233S			Q569H4	LARGN_HUMAN	proline rich 16	303					positive regulation of cell size (GO:0045793)|positive regulation of translation (GO:0045727)					endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		AACCACTACAACCGTGTGATG	0.388																																						ENST00000379551.2																			0				endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28						c.(838-840)Acc>Tcc		proline rich 16							52.0	52.0	52.0					5																	120022396		2203	4299	6502	SO:0001583	missense	51334							g.chr5:120022396A>T	AF242769	CCDS4127.1, CCDS75290.1	5q23.1	2006-08-22			ENSG00000184838	ENSG00000184838			29654	protein-coding gene	gene with protein product		615931				15971941	Standard	XM_005272010		Approved	DSC54	uc003ksp.3	Q569H4	OTTHUMG00000128903	ENST00000407149.2:c.907A>T	5.37:g.120022396A>T	ENSP00000385118:p.Thr303Ser					PRR16_ENST00000505123.1_Missense_Mutation_p.T233S|PRR16_ENST00000407149.2_Missense_Mutation_p.T303S|PRR16_ENST00000446965.1_Missense_Mutation_p.T233S	p.T280S	NM_016644.1	NP_057728.1	Q569H4	PRR16_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)	3	1195	+		all_cancers(142;0.0464)|Prostate(80;0.00446)	303			Pro-rich.		D3DSZ0|Q8IXY1|Q9NYI5	Missense_Mutation	SNP	ENST00000407149.2	37	c.838A>T		.	.	.	.	.	.	.	.	.	.	A	20.9	4.068329	0.76301	.	.	ENSG00000184838	ENST00000407149;ENST00000379551;ENST00000505123;ENST00000446965	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.47229	0.1434	N	0.08118	0	0.58432	D	0.999993	D;D	0.71674	0.998;0.998	D;D	0.80764	0.994;0.994	T	0.50415	-0.8831	9	.	.	.	1.2536	14.31	0.66410	1.0:0.0:0.0:0.0	.	303;280	Q569H4;Q569H4-3	PRR16_HUMAN;.	S	303;280;233;233	ENSP00000385118:T303S;ENSP00000368869:T280S;ENSP00000423446:T233S;ENSP00000405491:T233S	.	T	+	1	0	PRR16	120050295	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	8.919000	0.92770	2.020000	0.59435	0.533000	0.62120	ACC		0.388	PRR16-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000371059.1	NM_016644		4	36	0	0	0	1	0	4	36				
TRPV6	55503	broad.mit.edu	37	7	142573252	142573252	+	Missense_Mutation	SNP	T	T	C	rs377233085		TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr7:142573252T>C	ENST00000359396.3	-	8	1336	c.1091A>G	c.(1090-1092)gAc>gGc	p.D364G	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	364					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					GAGGGTGTTGTCCCGGGGGCT	0.562																																						ENST00000359396.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42						c.(1090-1092)gAc>gGc		transient receptor potential cation channel, subfamily V, member 6		T	GLY/ASP	0,4406		0,0,2203	94.0	89.0	91.0		1091	4.6	1.0	7		91	1,8599	1.2+/-3.3	0,1,4299	no	missense	TRPV6	NM_018646.2	94	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	probably-damaging	364/726	142573252	1,13005	2203	4300	6503	SO:0001583	missense	55503				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding	g.chr7:142573252T>C	AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	14006	protein-coding gene	gene with protein product		606680	"""epithelial calcium channel 2"""	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.1091A>G	7.37:g.142573252T>C	ENSP00000352358:p.Asp364Gly						p.D364G	NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN			8	1336	-	Melanoma(164;0.059)		364					A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Missense_Mutation	SNP	ENST00000359396.3	37	c.1091A>G	CCDS5874.1	.	.	.	.	.	.	.	.	.	.	T	17.08	3.296756	0.60086	0.0	1.16E-4	ENSG00000165125	ENST00000359396;ENST00000311470	D	0.86366	-2.11	4.59	4.59	0.56863	.	0.000000	0.85682	D	0.000000	D	0.93048	0.7787	M	0.84433	2.695	0.80722	D	1	D	0.76494	0.999	D	0.68765	0.96	D	0.93158	0.6555	10	0.45353	T	0.12	-35.1014	13.3177	0.60417	0.0:0.0:0.0:1.0	.	364	Q9H1D0	TRPV6_HUMAN	G	364;196	ENSP00000352358:D364G	ENSP00000310825:D196G	D	-	2	0	TRPV6	142283374	1.000000	0.71417	1.000000	0.80357	0.269000	0.26545	5.522000	0.67092	1.936000	0.56123	0.460000	0.39030	GAC		0.562	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347662.1	NM_014274		43	44	0	0	0	1	0	43	44				
SRRT	51593	broad.mit.edu	37	7	100484956	100484956	+	Missense_Mutation	SNP	A	A	C			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr7:100484956A>C	ENST00000347433.4	+	16	2149	c.1991A>C	c.(1990-1992)aAg>aCg	p.K664T	SRRT_ENST00000457580.2_Missense_Mutation_p.K664T|SRRT_ENST00000388793.4_Missense_Mutation_p.K663T|SRRT_ENST00000432932.1_Missense_Mutation_p.K663T			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	664					cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						GAGTGGCAGAAGACTTTTGAG	0.587																																						ENST00000388793.4																			0				breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(1987-1989)aAg>aCg		serrate RNA effector molecule homolog (Arabidopsis)							86.0	93.0	90.0					7																	100484956		2203	4300	6503	SO:0001583	missense	51593				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding	g.chr7:100484956A>C		CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"""arsenite resistance protein"""	614469	"""serrate RNA effector molecule homolog (Arabidopsis)"""			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.1991A>C	7.37:g.100484956A>C	ENSP00000314491:p.Lys664Thr					SRRT_ENST00000347433.4_Missense_Mutation_p.K664T|SRRT_ENST00000457580.2_Missense_Mutation_p.K664T|SRRT_ENST00000432932.1_Missense_Mutation_p.K663T	p.K663T	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN			16	2208	+			664					A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Missense_Mutation	SNP	ENST00000347433.4	37	c.1988A>C	CCDS34709.1	.	.	.	.	.	.	.	.	.	.	A	15.64	2.893425	0.52121	.	.	ENSG00000087087	ENST00000457580;ENST00000388793;ENST00000342198;ENST00000432932;ENST00000347433;ENST00000448764	.	.	.	4.56	4.56	0.56223	Arsenite-resistance protein 2 (1);	0.051349	0.85682	D	0.000000	T	0.78387	0.4275	M	0.82193	2.58	0.80722	D	1	D;D;D;D	0.76494	0.999;0.998;0.998;0.999	D;D;D;D	0.78314	0.991;0.91;0.91;0.946	T	0.79654	-0.1713	9	0.44086	T	0.13	.	11.8804	0.52571	1.0:0.0:0.0:0.0	.	663;663;664;664	Q9BXP5-3;Q9BXP5-4;Q9BXP5-2;Q9BXP5	.;.;.;SRRT_HUMAN	T	664;663;29;663;664;294	.	ENSP00000344670:K29T	K	+	2	0	SRRT	100322892	1.000000	0.71417	1.000000	0.80357	0.323000	0.28346	5.686000	0.68211	1.902000	0.55061	0.247000	0.18012	AAG		0.587	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347168.1	NM_015908		48	82	0	0	0	1	0	48	82				
ZNF425	155054	broad.mit.edu	37	7	148801034	148801034	+	Silent	SNP	G	G	A			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr7:148801034G>A	ENST00000378061.2	-	4	2061	c.1929C>T	c.(1927-1929)tgC>tgT	p.C643C		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	643					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			AACTTTTGCCGCACATCACAC	0.532																																						ENST00000378061.2																			0				breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50						c.(1927-1929)tgC>tgT		zinc finger protein 425							152.0	141.0	145.0					7																	148801034		2203	4300	6503	SO:0001819	synonymous_variant	155054				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr7:148801034G>A	AK056498	CCDS34773.1	7q36.1	2013-01-08			ENSG00000204947	ENSG00000204947		"""Zinc fingers, C2H2-type"", ""-"""	20690	protein-coding gene	gene with protein product							Standard	NM_001001661		Approved		uc003wfj.3	Q6IV72	OTTHUMG00000158971	ENST00000378061.2:c.1929C>T	7.37:g.148801034G>A							p.C643C	NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)		4	2061	-	Melanoma(164;0.15)		643					B3KPM1|Q08AG3	Silent	SNP	ENST00000378061.2	37	c.1929C>T	CCDS34773.1																																																																																				0.532	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352726.1	XM_088140		4	155	0	0	0	1	0	4	155				
CLRN2	645104	broad.mit.edu	37	4	17528505	17528505	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr4:17528505C>T	ENST00000511148.2	+	3	601	c.499C>T	c.(499-501)Cga>Tga	p.R167*	snoU13_ENST00000459186.1_RNA	NM_001079827.2	NP_001073296.1	A0PK11	CLRN2_HUMAN	clarin 2	167						integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|upper_aerodigestive_tract(1)	15						CCTGACGGAACGAATCGCCAA	0.552																																						ENST00000511148.2																			0				breast(1)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|upper_aerodigestive_tract(1)	15						c.(499-501)Cga>Tga		clarin 2							85.0	92.0	89.0					4																	17528505		2106	4233	6339	SO:0001587	stop_gained	645104					integral to membrane		g.chr4:17528505C>T		CCDS47032.1	4p15.32	2008-01-17			ENSG00000249581	ENSG00000249581			33939	protein-coding gene	gene with protein product						12080385	Standard	NM_001079827		Approved		uc003gpg.1	A0PK11	OTTHUMG00000160273	ENST00000511148.2:c.499C>T	4.37:g.17528505C>T	ENSP00000424711:p.Arg167*						p.R167*	NM_001079827.2	NP_001073296.1	A0PK11	CLRN2_HUMAN			3	601	+			167						Nonsense_Mutation	SNP	ENST00000511148.2	37	c.499C>T	CCDS47032.1	.	.	.	.	.	.	.	.	.	.	C	13.84	2.356356	0.41700	.	.	ENSG00000249581	ENST00000511148	.	.	.	5.76	3.79	0.43588	.	0.134805	0.49916	D	0.000124	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	-11.3709	13.2898	0.60264	0.4412:0.5588:0.0:0.0	.	.	.	.	X	167	.	ENSP00000424711:R167X	R	+	1	2	CLRN2	17137603	0.989000	0.36119	0.016000	0.15963	0.043000	0.13939	2.844000	0.48246	1.388000	0.46506	0.655000	0.94253	CGA		0.552	CLRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359990.2	NM_001079827		4	39	0	0	0	1	0	4	39				
NEK10	152110	broad.mit.edu	37	3	27244027	27244027	+	Silent	SNP	C	C	T			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr3:27244027C>T	ENST00000429845.2	-	25	2474	c.2112G>A	c.(2110-2112)gaG>gaA	p.E704E	NEK10_ENST00000383771.4_Silent_p.E16E|NEK10_ENST00000295720.6_Silent_p.E16E|NEK10_ENST00000357467.2_Silent_p.E101E|NEK10_ENST00000383770.3_Silent_p.E16E			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	704	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein autophosphorylation (GO:0031954)|protein phosphorylation (GO:0006468)|regulation of cell cycle G2/M phase transition (GO:1902749)|regulation of ERK1 and ERK2 cascade (GO:0070372)	protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CCCCATACGGCTCACTCTTCA	0.473																																						ENST00000429845.2																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(2110-2112)gaG>gaA		NIMA-related kinase 10							74.0	65.0	68.0					3																	27244027		2203	4300	6503	SO:0001819	synonymous_variant	152110						ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr3:27244027C>T	AK123061, AK057247	CCDS46781.1	3p24.1	2012-11-15	2012-11-15		ENSG00000163491	ENSG00000163491			18592	protein-coding gene	gene with protein product			"""NIMA (never in mitosis gene a)- related kinase 10"""			15289607	Standard	NM_199347		Approved	FLJ32685	uc003cdt.2	Q6ZWH5	OTTHUMG00000130571	ENST00000429845.2:c.2112G>A	3.37:g.27244027C>T						NEK10_ENST00000383771.4_Silent_p.E16E|NEK10_ENST00000357467.2_Silent_p.E101E|NEK10_ENST00000295720.6_Silent_p.E16E|NEK10_ENST00000383770.3_Silent_p.E16E	p.E704E			Q6ZWH5	NEK10_HUMAN			25	2474	-			704			Protein kinase.		A8MWG1|B9ZVR0|Q45VJ4|Q6ZR11|Q7Z671|Q86XB1|Q96MB3	Silent	SNP	ENST00000429845.2	37	c.2112G>A																																																																																					0.473	NEK10-016	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000438156.1	NM_152534		11	23	0	0	0	1	0	11	23				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			0							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		5	56	0	0	0	1	0	5	56				
ARRDC5	645432	broad.mit.edu	37	19	4891574	4891574	+	Silent	SNP	G	G	A			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr19:4891574G>A	ENST00000381781.2	-	3	512	c.513C>T	c.(511-513)ttC>ttT	p.F171F	AC027319.1_ENST00000408608.1_RNA	NM_001080523.1	NP_001073992.1	A6NEK1	ARRD5_HUMAN	arrestin domain containing 5	171										endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		CAGCCTCCACGAACAAGGGGT	0.552																																						ENST00000381781.2																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12						c.(511-513)ttC>ttT		arrestin domain containing 5							37.0	33.0	35.0					19																	4891574		1976	4162	6138	SO:0001819	synonymous_variant	645432				signal transduction			g.chr19:4891574G>A		CCDS45929.1	19p13.3	2007-10-05				ENSG00000205784			31407	protein-coding gene	gene with protein product						12886014	Standard	NM_001080523		Approved		uc002mbm.3	A6NEK1		ENST00000381781.2:c.513C>T	19.37:g.4891574G>A							p.F171F	NM_001080523.1	NP_001073992.1	A6NEK1	ARRD5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)	3	512	-			171						Silent	SNP	ENST00000381781.2	37	c.513C>T	CCDS45929.1																																																																																				0.552	ARRDC5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450443.1	XM_292803		13	11	0	0	0	1	0	13	11				
TP53	7157	broad.mit.edu	37	17	7578505	7578505	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr17:7578505G>A	ENST00000269305.4	-	5	614	c.425C>T	c.(424-426)cCt>cTt	p.P142L	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.P142L|TP53_ENST00000445888.2_Missense_Mutation_p.P142L|TP53_ENST00000455263.2_Missense_Mutation_p.P142L|TP53_ENST00000413465.2_Missense_Mutation_p.P142L|TP53_ENST00000420246.2_Missense_Mutation_p.P142L	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	142	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		P -> A (in sporadic cancers; somatic mutation).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in a sporadic cancer; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.P142L(8)|p.0?(8)|p.A138_P142delAKTCP(4)|p.P142H(3)|p.P142F(2)|p.L137_W146del10(1)|p.A6_P10delAKTCP(1)|p.N131fs*27(1)|p.K139fs*4(1)|p.A45_P49delAKTCP(1)|p.T140fs*28(1)|p.A138_V143delAKTCPV(1)|p.C141fs*5(1)|p.P142del(1)|p.P142_Q144delPVQ(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CAGCTGCACAGGGCAGGTCTT	0.587		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		35	Substitution - Missense(13)|Deletion - In frame(10)|Whole gene deletion(8)|Deletion - Frameshift(4)	p.P142L(8)|p.0?(8)|p.A138_P142delAKTCP(4)|p.P142H(3)|p.P142F(2)|p.L137_W146del10(1)|p.A6_P10delAKTCP(1)|p.N131fs*27(1)|p.K139fs*4(1)|p.A45_P49delAKTCP(1)|p.T140fs*28(1)|p.A138_V143delAKTCPV(1)|p.C141fs*5(1)|p.P142del(1)|p.P142_Q144delPVQ(1)	ovary(9)|skin(4)|bone(4)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|upper_aerodigestive_tract(2)|large_intestine(2)|stomach(2)|vulva(1)|lung(1)|prostate(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(424-426)cCt>cTt	Other conserved DNA damage response genes	tumor protein p53							57.0	56.0	57.0					17																	7578505		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578505G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.425C>T	17.37:g.7578505G>A	ENSP00000269305:p.Pro142Leu	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000359597.4_Missense_Mutation_p.P142L|TP53_ENST00000455263.2_Missense_Mutation_p.P142L|TP53_ENST00000413465.2_Missense_Mutation_p.P142L|TP53_ENST00000445888.2_Missense_Mutation_p.P142L|TP53_ENST00000269305.4_Missense_Mutation_p.P142L	p.P142L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	557	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	142		P -> A (in sporadic cancers; somatic mutation).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in a sporadic cancer; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.425C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.103292	0.56183	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99908	-7.81;-7.81;-7.81;-7.81;-7.81;-7.81;-7.81;-7.81;-7.81	5.48	4.52	0.55395	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.113302	0.64402	D	0.000014	D	0.99889	0.9947	M	0.83953	2.67	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;0.998;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.995;0.998;1.0;0.996;1.0;1.0	D	0.96062	0.9039	10	0.66056	D	0.02	-23.5946	12.4373	0.55606	0.082:0.0:0.918:0.0	.	103;142;142;49;142;142;142	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	L	142;142;142;142;142;142;131;49;10;49;10;142	ENSP00000410739:P142L;ENSP00000352610:P142L;ENSP00000269305:P142L;ENSP00000398846:P142L;ENSP00000391127:P142L;ENSP00000391478:P142L;ENSP00000425104:P10L;ENSP00000423862:P49L;ENSP00000424104:P142L	ENSP00000269305:P142L	P	-	2	0	TP53	7519230	1.000000	0.71417	0.882000	0.34594	0.012000	0.07955	7.837000	0.86796	1.453000	0.47775	-0.140000	0.14226	CCT		0.587	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		4	51	0	0	0	1	0	4	51				
CATSPER3	347732	broad.mit.edu	37	5	134345082	134345082	+	Nonsense_Mutation	SNP	C	C	T	rs369037609		TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr5:134345082C>T	ENST00000282611.6	+	6	924	c.838C>T	c.(838-840)Cga>Tga	p.R280*		NM_178019.2	NP_821138.1	Q86XQ3	CTSR3_HUMAN	cation channel, sperm associated 3	280					calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sodium ion transport (GO:0006814)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|CatSper complex (GO:0036128)|endoplasmic reticulum (GO:0005783)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AAAGTTTGAGCGAGAGCTGAT	0.542																																						ENST00000282611.6																			0				NS(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)|urinary_tract(1)	18						c.(838-840)Cga>Tga		cation channel, sperm associated 3		C	stop/ARG	0,4406		0,0,2203	128.0	119.0	122.0		838	-0.3	0.1	5		122	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	CATSPER3	NM_178019.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		280/399	134345082	1,13005	2203	4300	6503	SO:0001587	stop_gained	347732				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity	g.chr5:134345082C>T	AF432876	CCDS4181.1	5q31.2	2011-07-05			ENSG00000152705	ENSG00000152705		"""Voltage-gated ion channels / Cation channels, sperm associated"""	20819	protein-coding gene	gene with protein product		609120				12646162, 12932298, 17227845, 16382101	Standard	NM_178019		Approved	CACRC	uc003lag.3	Q86XQ3	OTTHUMG00000129137	ENST00000282611.6:c.838C>T	5.37:g.134345082C>T	ENSP00000282611:p.Arg280*						p.R280*	NM_178019.2	NP_821138.1	Q86XQ3	CTSR3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		6	924	+			280					Q86XS6	Nonsense_Mutation	SNP	ENST00000282611.6	37	c.838C>T	CCDS4181.1	.	.	.	.	.	.	.	.	.	.	C	16.15	3.042630	0.55003	0.0	1.16E-4	ENSG00000152705	ENST00000282611	.	.	.	5.07	-0.283	0.12874	.	1.209870	0.05988	N	0.645589	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	-0.025	4.0231	0.09675	0.482:0.3355:0.0:0.1824	.	.	.	.	X	280	.	ENSP00000282611:R280X	R	+	1	2	CATSPER3	134372981	0.510000	0.26171	0.079000	0.20413	0.008000	0.06430	0.215000	0.17562	0.073000	0.16731	0.655000	0.94253	CGA		0.542	CATSPER3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251191.2	NM_178019		5	93	0	0	0	1	0	5	93				
OR4C16	219428	broad.mit.edu	37	11	55339921	55339921	+	Silent	SNP	C	C	A	rs375303396		TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr11:55339921C>A	ENST00000314634.3	+	1	318	c.318C>A	c.(316-318)ggC>ggA	p.G106G		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	106						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				ATGTCTTTGGCTGCCTGGAGA	0.488																																						ENST00000314634.3																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(316-318)ggC>ggA		olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)							227.0	219.0	222.0					11																	55339921		2201	4296	6497	SO:0001819	synonymous_variant	219428				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55339921C>A	AB065773	CCDS31502.1	11q11	2013-10-10	2013-10-10		ENSG00000181935	ENSG00000181935		"""GPCR / Class A : Olfactory receptors"""	15172	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily C, member 16"""				Standard	NM_001004701		Approved		uc010rih.2	Q8NGL9	OTTHUMG00000165198	ENST00000314634.3:c.318C>A	11.37:g.55339921C>A							p.G106G	NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN			1	318	+		all_epithelial(135;0.0748)	106					Q6IEV8	Silent	SNP	ENST00000314634.3	37	c.318C>A	CCDS31502.1																																																																																				0.488	OR4C16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382627.1	NM_001004701		8	238	1	0	1.33987e-11	1	1.41295e-11	8	238				
KIAA0895L	653319	broad.mit.edu	37	16	67214474	67214474	+	Missense_Mutation	SNP	G	G	T			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr16:67214474G>T	ENST00000290881.7	-	3	966	c.40C>A	c.(40-42)Ccc>Acc	p.P14T	KIAA0895L_ENST00000563831.2_Intron|KIAA0895L_ENST00000563902.1_Missense_Mutation_p.P14T|KIAA0895L_ENST00000561621.1_Missense_Mutation_p.P14T			Q68EN5	K895L_HUMAN	KIAA0895-like	14	Pro-rich.							p.S16fs*13(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						GGGCTGGGGGGTGCCTGATCA	0.647																																						ENST00000290881.7																			1	Deletion - Frameshift(1)	p.S16fs*13(1)	prostate(1)	breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						c.(40-42)Ccc>Acc		KIAA0895-like							25.0	30.0	29.0					16																	67214474		1860	3878	5738	SO:0001583	missense	653319							g.chr16:67214474G>T	AK092303	CCDS42177.1	16q22.1	2008-11-27				ENSG00000196123			34408	protein-coding gene	gene with protein product							Standard	NM_001040715		Approved	LOC653319	uc002ert.3	Q68EN5		ENST00000290881.7:c.40C>A	16.37:g.67214474G>T	ENSP00000290881:p.Pro14Thr					KIAA0895L_ENST00000563902.1_Missense_Mutation_p.P14T|KIAA0895L_ENST00000561621.1_Missense_Mutation_p.P14T|KIAA0895L_ENST00000563831.2_Intron	p.P14T			Q68EN5	K895L_HUMAN			3	966	-			14			Pro-rich.		A2VCS8|Q8N3H9|Q8NAQ5|Q96IE5	Missense_Mutation	SNP	ENST00000290881.7	37	c.40C>A	CCDS42177.1	.	.	.	.	.	.	.	.	.	.	G	17.01	3.278618	0.59758	.	.	ENSG00000196123	ENST00000290881	.	.	.	4.6	3.65	0.41850	.	0.134532	0.48767	D	0.000174	T	0.42585	0.1209	L	0.50333	1.59	0.30126	N	0.805261	B;B	0.34103	0.419;0.437	B;B	0.36244	0.22;0.154	T	0.50980	-0.8763	9	0.62326	D	0.03	-12.6929	10.4161	0.44322	0.0959:0.0:0.9041:0.0	.	14;14	Q68EN5-2;Q68EN5	.;K895L_HUMAN	T	14	.	ENSP00000290881:P14T	P	-	1	0	KIAA0895L	65771975	1.000000	0.71417	0.998000	0.56505	0.813000	0.45954	2.937000	0.48979	1.284000	0.44531	0.650000	0.86243	CCC		0.647	KIAA0895L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421193.4	NM_001040715		19	21	1	0	4.35082e-09	1	4.5062e-09	19	21				
ACVR1B	91	broad.mit.edu	37	12	52380606	52380606	+	Missense_Mutation	SNP	A	A	G			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr12:52380606A>G	ENST00000257963.4	+	7	1218	c.1141A>G	c.(1141-1143)Atg>Gtg	p.M381V	ACVR1B_ENST00000542485.1_Missense_Mutation_p.M329V|RNU6-574P_ENST00000384265.1_RNA|ACVR1B_ENST00000541224.1_Missense_Mutation_p.M422V|ACVR1B_ENST00000563121.1_Intron|ACVR1B_ENST00000426655.2_Missense_Mutation_p.M381V|ACVR1B_ENST00000415850.2_Missense_Mutation_p.M381V	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB	381	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|central nervous system development (GO:0007417)|development of primary female sexual characteristics (GO:0046545)|extrinsic apoptotic signaling pathway (GO:0097191)|G1/S transition of mitotic cell cycle (GO:0000082)|hair follicle development (GO:0001942)|in utero embryonic development (GO:0001701)|negative regulation of cell growth (GO:0030308)|nodal signaling pathway (GO:0038092)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of trophoblast cell migration (GO:1901165)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|inhibin binding (GO:0034711)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	TTGCAGATACATGGCCCCTGA	0.398																																						ENST00000257963.4																			0				breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44						c.(1141-1143)Atg>Gtg		activin A receptor, type IB	Adenosine triphosphate(DB00171)						103.0	102.0	103.0					12																	52380606		2203	4300	6503	SO:0001583	missense	91				G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding	g.chr12:52380606A>G		CCDS8816.1, CCDS44893.1, CCDS44894.1, CCDS44893.2, CCDS44894.2	12q13	2006-11-09			ENSG00000135503	ENSG00000135503			172	protein-coding gene	gene with protein product		601300		ACVRLK4		8397373	Standard	NM_020327		Approved	ALK4, SKR2, ActRIB	uc010snn.2	P36896	OTTHUMG00000167920	ENST00000257963.4:c.1141A>G	12.37:g.52380606A>G	ENSP00000257963:p.Met381Val					ACVR1B_ENST00000563121.1_Intron|ACVR1B_ENST00000541224.1_Missense_Mutation_p.M422V|ACVR1B_ENST00000426655.2_Missense_Mutation_p.M381V|ACVR1B_ENST00000415850.2_Missense_Mutation_p.M381V|ACVR1B_ENST00000542485.1_Missense_Mutation_p.M329V	p.M381V	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.104)	7	1218	+			381			Protein kinase.		B7Z5L8|B7Z5W5|Q15479|Q15480|Q15481|Q15482	Missense_Mutation	SNP	ENST00000257963.4	37	c.1141A>G	CCDS8816.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.199423	0.79015	.	.	ENSG00000135503	ENST00000257963;ENST00000541224;ENST00000426655;ENST00000415850;ENST00000542485	D;D;D;D;D	0.94232	-3.38;-3.38;-3.38;-3.38;-3.38	5.04	5.04	0.67666	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.97081	0.9046	M	0.91249	3.19	0.80722	D	1	D;D;D;D	0.61697	0.969;0.99;0.969;0.985	P;D;P;D	0.65443	0.73;0.935;0.846;0.911	D	0.97981	1.0349	10	0.87932	D	0	.	15.2504	0.73539	1.0:0.0:0.0:0.0	.	422;381;381;381	P36896-4;P36896;P36896-2;P36896-3	.;ACV1B_HUMAN;.;.	V	381;422;381;381;329	ENSP00000257963:M381V;ENSP00000442656:M422V;ENSP00000390477:M381V;ENSP00000397550:M381V;ENSP00000442885:M329V	ENSP00000257963:M381V	M	+	1	0	ACVR1B	50666873	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	9.139000	0.94554	2.257000	0.74773	0.460000	0.39030	ATG		0.398	ACVR1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397000.1	NM_020328		23	74	0	0	0	1	0	23	74				
PCDHA2	56146	broad.mit.edu	37	5	140176747	140176747	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr5:140176747C>T	ENST00000526136.1	+	1	2198	c.2198C>T	c.(2197-2199)gCg>gTg	p.A733V	PCDHA2_ENST00000520672.2_Missense_Mutation_p.A733V|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.A733V	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	733					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)			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)			GGTGCGCGCGCGCCAGGAAAG	0.682																																						ENST00000526136.1																			0				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.(2197-2199)gCg>gTg									48.0	50.0	50.0					5																	140176747		2203	4299	6502	SO:0001583	missense	0							g.chr5:140176747C>T	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.2198C>T	5.37:g.140176747C>T	ENSP00000431748:p.Ala733Val					PCDHA2_ENST00000378132.1_Missense_Mutation_p.A733V|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.A733V	p.A733V	NM_018905.2	NP_061728.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2198	+								O75287|Q9BTV3	Missense_Mutation	SNP	ENST00000526136.1	37	c.2198C>T	CCDS54914.1	.	.	.	.	.	.	.	.	.	.	N	2.817	-0.245675	0.05906	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.76709	-1.04;-1.04;-1.04	4.0	-2.0	0.07433	.	0.702690	0.11252	N	0.583549	T	0.62307	0.2417	L	0.35341	1.055	0.09310	N	1	B;B;B	0.17268	0.021;0.007;0.021	B;B;B	0.12837	0.008;0.002;0.005	T	0.41016	-0.9532	10	0.15952	T	0.53	.	9.476	0.38871	0.0:0.5254:0.2214:0.2532	.	733;733;733	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	V	733	ENSP00000430584:A733V;ENSP00000367372:A733V;ENSP00000431748:A733V	ENSP00000367372:A733V	A	+	2	0	PCDHA2	140156931	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-2.060000	0.01392	-1.208000	0.02634	-2.635000	0.00153	GCG		0.682	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		5	84	0	0	0	1	0	5	84				
CIC	23152	broad.mit.edu	37	19	42791794	42791794	+	Missense_Mutation	SNP	A	A	T			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr19:42791794A>T	ENST00000575354.2	+	5	720	c.680A>T	c.(679-681)aAc>aTc	p.N227I	CIC_ENST00000160740.3_Missense_Mutation_p.N227I|CIC_ENST00000572681.2_Missense_Mutation_p.N1136I	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	227					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				AACCAGGACAACCGGACCGTC	0.622			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(3406-3408)aAc>aTc		capicua transcriptional repressor							81.0	75.0	77.0					19																	42791794		2203	4300	6503	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42791794A>T	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.680A>T	19.37:g.42791794A>T	ENSP00000458663:p.Asn227Ile					CIC_ENST00000160740.3_Missense_Mutation_p.N227I|CIC_ENST00000575354.2_Missense_Mutation_p.N227I	p.N1136I			Q96RK0	CIC_HUMAN			6	3475	+		Prostate(69;0.00682)	227			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.3407A>T	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	A	16.67	3.186918	0.57909	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.39	4.39	0.52855	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	.	.	.	.	T	0.77592	0.4153	M	0.77616	2.38	0.58432	D	0.999999	D	0.76494	0.999	D	0.91635	0.999	T	0.80562	-0.1327	8	0.87932	D	0	-19.6304	11.626	0.51145	1.0:0.0:0.0:0.0	.	227	Q96RK0	CIC_HUMAN	I	227	.	ENSP00000160740:N227I	N	+	2	0	CIC	47483634	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.768000	0.91737	1.853000	0.53794	0.454000	0.30748	AAC		0.622	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			22	5	0	0	0	1	0	22	5				
MYO5B	4645	broad.mit.edu	37	18	47500793	47500793	+	Missense_Mutation	SNP	C	C	A			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr18:47500793C>A	ENST00000285039.7	-	10	1548	c.1249G>T	c.(1249-1251)Gtg>Ttg	p.V417L		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	417	Myosin motor.				endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		ATGTGCTCCACAATCCAGCCG	0.587																																						ENST00000285039.7																			0				NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87						c.(1249-1251)Gtg>Ttg		myosin VB							138.0	149.0	145.0					18																	47500793		2176	4264	6440	SO:0001583	missense	4645				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr18:47500793C>A	AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"""Myosins / Myosin superfamily : Class V"""	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.1249G>T	18.37:g.47500793C>A	ENSP00000285039:p.Val417Leu						p.V417L	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN		READ - Rectum adenocarcinoma(32;0.103)	10	1548	-			417			Myosin head-like.		B0I1R3|Q0P656|Q9H6Y6	Missense_Mutation	SNP	ENST00000285039.7	37	c.1249G>T	CCDS42436.1	.	.	.	.	.	.	.	.	.	.	C	35	5.462238	0.96240	.	.	ENSG00000167306	ENST00000285039;ENST00000356732	D	0.91464	-2.85	5.5	5.5	0.81552	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.96253	0.8778	M	0.90483	3.12	0.80722	D	1	D;D	0.61697	0.975;0.99	D;P	0.68353	0.957;0.879	D	0.96615	0.9455	10	0.87932	D	0	.	19.3767	0.94512	0.0:1.0:0.0:0.0	.	416;417	Q7Z7A5;Q9ULV0	.;MYO5B_HUMAN	L	417;416	ENSP00000285039:V417L	ENSP00000285039:V417L	V	-	1	0	MYO5B	45754791	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	7.729000	0.84864	2.735000	0.93741	0.655000	0.94253	GTG		0.587	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			4	68	1	0	0.000602214	1	0.00061278	4	68				
FUBP1	8880	broad.mit.edu	37	1	78428499	78428499	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr1:78428499G>A	ENST00000370768.2	-	14	1381	c.1300C>T	c.(1300-1302)Caa>Taa	p.Q434*	FUBP1_ENST00000370767.1_Nonsense_Mutation_p.Q434*|FUBP1_ENST00000436586.2_Nonsense_Mutation_p.Q455*	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	434	KH 4. {ECO:0000255|PROSITE- ProRule:PRU00117}.				positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						TCTATCTGTTGTGGAGTGCCA	0.368			"""F, N"""		oligodendroglioma																																	ENST00000370767.1				Rec	yes		1	1p13.1	8880	"""F, N"""	far upstream element (FUSE) binding protein 1			O			oligodendroglioma		0				central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						c.(1300-1302)Caa>Taa		far upstream element (FUSE) binding protein 1							115.0	110.0	112.0					1																	78428499		2203	4300	6503	SO:0001587	stop_gained	8880				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr1:78428499G>A	U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.1300C>T	1.37:g.78428499G>A	ENSP00000359804:p.Gln434*					FUBP1_ENST00000436586.2_Nonsense_Mutation_p.Q455*|FUBP1_ENST00000370768.2_Nonsense_Mutation_p.Q434*	p.Q434*			Q96AE4	FUBP1_HUMAN			14	1387	-			434			KH 4.		Q12828	Nonsense_Mutation	SNP	ENST00000370768.2	37	c.1300C>T	CCDS683.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.151586	0.78001	.	.	ENSG00000162613	ENST00000370773;ENST00000370767;ENST00000370768;ENST00000394922;ENST00000436586	.	.	.	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-4.623	20.09	0.97815	0.0:0.0:1.0:0.0	.	.	.	.	X	433;434;434;433;455	.	ENSP00000294623:Q433X	Q	-	1	0	FUBP1	78201087	1.000000	0.71417	0.998000	0.56505	0.010000	0.07245	9.810000	0.99221	2.827000	0.97445	0.650000	0.86243	CAA		0.368	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098030.3	NM_003902		5	38	0	0	0	1	0	5	38				
CPAMD8	27151	broad.mit.edu	37	19	17081798	17081798	+	Missense_Mutation	SNP	G	G	A	rs201764550		TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr19:17081798G>A	ENST00000443236.1	-	18	2288	c.2257C>T	c.(2257-2259)Cgg>Tgg	p.R753W	CPAMD8_ENST00000388925.4_Missense_Mutation_p.P495L	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	706						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CCGTCCTGCCGGTGGTTCAGG	0.632																																						ENST00000443236.1																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						c.(2257-2259)Cgg>Tgg		C3 and PZP-like, alpha-2-macroglobulin domain containing 8		G	TRP/ARG	0,4134		0,0,2067	58.0	62.0	61.0		2257	-3.0	1.0	19		61	2,8378		0,2,4188	yes	missense	CPAMD8	NM_015692.2	101	0,2,6255	AA,AG,GG		0.0239,0.0,0.016	probably-damaging	753/1933	17081798	2,12512	2067	4190	6257	SO:0001583	missense	27151					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr19:17081798G>A	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.2257C>T	19.37:g.17081798G>A	ENSP00000402505:p.Arg753Trp					CPAMD8_ENST00000388925.4_Missense_Mutation_p.P495L	p.R753W	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN			18	2288	-			706					Q8NC09|Q9ULD7	Missense_Mutation	SNP	ENST00000443236.1	37	c.2257C>T	CCDS42519.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.61|17.61	3.432760|3.432760	0.62844|0.62844	0.0|0.0	2.39E-4|2.39E-4	ENSG00000160111|ENSG00000160111	ENST00000388925|ENST00000291440	T|.	0.53423|.	0.62|.	3.18|3.18	-2.96|-2.96	0.05547|0.05547	.|.	.|0.497877	.|0.15740	.|U	.|0.246969	T|T	0.69151|0.69151	0.3079|0.3079	M|M	0.70595|0.70595	2.14|2.14	0.33572|0.33572	D|D	0.59873|0.59873	.|D	.|0.89917	.|1.0	.|D	.|0.69654	.|0.965	T|T	0.76844|0.76844	-0.2809|-0.2809	7|9	0.87932|0.66056	D|D	0|0.02	.|.	12.8487|12.8487	0.57844|0.57844	0.0:0.0:0.447:0.553|0.0:0.0:0.447:0.553	.|.	.|706	.|Q8IZJ3	.|CPMD8_HUMAN	L|W	495|753	ENSP00000373577:P495L|.	ENSP00000373577:P495L|ENSP00000291440:R753W	P|R	-|-	2|1	0|2	CPAMD8|CPAMD8	16942798|16942798	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.962000|0.962000	0.63368|0.63368	1.145000|1.145000	0.31577|0.31577	-0.080000|-0.080000	0.12685|0.12685	-0.188000|-0.188000	0.12872|0.12872	CCG|CGG		0.632	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		4	65	0	0	0	1	0	4	65				
C17orf85	55421	broad.mit.edu	37	17	3717702	3717702	+	Missense_Mutation	SNP	T	T	C			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr17:3717702T>C	ENST00000389005.4	-	12	1568	c.1541A>G	c.(1540-1542)gAg>gGg	p.E514G	C17orf85_ENST00000158149.3_Missense_Mutation_p.E234G	NM_001114118.2	NP_001107590.1	Q53F19	CQ085_HUMAN	chromosome 17 open reading frame 85	514							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)		AGAAGAGGGCTCTCTCCGAAC	0.473																																						ENST00000158149.3																			0				endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	10						c.(700-702)gAg>gGg		chromosome 17 open reading frame 85							133.0	117.0	123.0					17																	3717702		2203	4300	6503	SO:0001583	missense	55421						nucleotide binding	g.chr17:3717702T>C		CCDS45578.1	17p13.2	2012-10-23			ENSG00000074356	ENSG00000074356			24612	protein-coding gene	gene with protein product	"""ELG protein"""					11412301	Standard	NM_001114118		Approved	HSA277841, ELG	uc010ckl.2	Q53F19	OTTHUMG00000177672	ENST00000389005.4:c.1541A>G	17.37:g.3717702T>C	ENSP00000373657:p.Glu514Gly					C17orf85_ENST00000389005.4_Missense_Mutation_p.E514G	p.E234G			Q53F19	CQ085_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)	13	1596	-			514					B3KWG7|Q7L406|Q96FK1|Q9NXZ4	Missense_Mutation	SNP	ENST00000389005.4	37	c.701A>G	CCDS45578.1	.	.	.	.	.	.	.	.	.	.	T	27.7	4.855836	0.91355	.	.	ENSG00000074356	ENST00000389005;ENST00000158149	.	.	.	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.65913	0.2737	L	0.32530	0.975	0.80722	D	1	D	0.71674	0.998	D	0.72982	0.979	T	0.69371	-0.5163	9	0.87932	D	0	-17.9739	13.7944	0.63162	0.0:0.0:0.0:1.0	.	514	Q53F19	CQ085_HUMAN	G	514;234	.	ENSP00000158149:E234G	E	-	2	0	C17orf85	3664451	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	6.663000	0.74431	2.199000	0.70637	0.455000	0.32223	GAG		0.473	C17orf85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438385.1	NM_018553		4	98	0	0	0	1	0	4	98				
THBS2	7058	broad.mit.edu	37	6	169634881	169634881	+	Silent	SNP	G	G	A	rs139787473		TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr6:169634881G>A	ENST00000366787.3	-	11	1848	c.1599C>T	c.(1597-1599)tgC>tgT	p.C533C	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	533	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.C533*(1)		NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CATCCCCCACGCAGGCCTTCC	0.662													G|||	1	0.000199681	0.0	0.0014	5008	,	,		14522	0.0		0.0	False		,,,				2504	0.0				Esophageal Squamous(91;219 1934 18562 44706)	ENST00000366787.3																			1	Substitution - Nonsense(1)	p.C533*(1)	lung(1)	NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111						c.(1597-1599)tgC>tgT		thrombospondin 2		G		1,4405	2.1+/-5.4	0,1,2202	57.0	54.0	55.0		1599	-1.5	0.4	6	dbSNP_134	55	0,8600		0,0,4300	no	coding-synonymous	THBS2	NM_003247.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		533/1173	169634881	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7058				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	g.chr6:169634881G>A		CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.1599C>T	6.37:g.169634881G>A						XXyac-YX65C7_A.2_ENST00000444188.1_RNA	p.C533C	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)	11	1848	-		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)	533			TSP type-1 3.		A6H8N1|A7E232|Q5RI52	Silent	SNP	ENST00000366787.3	37	c.1599C>T	CCDS34574.1																																																																																				0.662	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247		6	66	0	0	0	1	0	6	66				
BRWD1	54014	broad.mit.edu	37	21	40604415	40604415	+	Missense_Mutation	SNP	T	T	C			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr21:40604415T>C	ENST00000333229.2	-	24	3103	c.2776A>G	c.(2776-2778)Agg>Ggg	p.R926G	BRWD1_ENST00000342449.3_Missense_Mutation_p.R926G|BRWD1_ENST00000380800.3_Missense_Mutation_p.R926G	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	926					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				GGAGTCATCCTCCGCAAATTC	0.398																																					Melanoma(170;988 1986 4794 16843 39731)	ENST00000342449.3																			0				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58						c.(2776-2778)Agg>Ggg		bromodomain and WD repeat domain containing 1							90.0	89.0	90.0					21																	40604415		2203	4300	6503	SO:0001583	missense	54014				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr21:40604415T>C	AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.2776A>G	21.37:g.40604415T>C	ENSP00000330753:p.Arg926Gly					BRWD1_ENST00000333229.2_Missense_Mutation_p.R926G|BRWD1_ENST00000380800.3_Missense_Mutation_p.R926G	p.R926G	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN			24	2854	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	926					C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	c.2776A>G	CCDS13662.1	.	.	.	.	.	.	.	.	.	.	T	14.74	2.624580	0.46840	.	.	ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800	T;T;T	0.57907	0.37;0.39;0.47	5.65	4.51	0.55191	.	0.280522	0.36591	N	0.002508	T	0.60379	0.2264	M	0.71581	2.175	0.80722	D	1	P;B	0.45348	0.856;0.016	P;B	0.52217	0.693;0.007	T	0.59397	-0.7462	10	0.42905	T	0.14	-2.2723	8.5816	0.33632	0.0:0.1469:0.0:0.8531	.	926;926	Q9NSI6-2;Q9NSI6	.;BRWD1_HUMAN	G	926	ENSP00000330753:R926G;ENSP00000344333:R926G;ENSP00000370178:R926G	ENSP00000330753:R926G	R	-	1	2	BRWD1	39526285	0.984000	0.35163	0.850000	0.33497	0.358000	0.29455	2.681000	0.46926	0.987000	0.38709	0.482000	0.46254	AGG		0.398	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656		7	70	0	0	0	1	0	7	70				
SLC25A46	91137	broad.mit.edu	37	5	110074990	110074990	+	Frame_Shift_Del	DEL	G	G	-			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr5:110074990delG	ENST00000355943.3	+	1	296	c.170delG	c.(169-171)tggfs	p.W57fs	SLC25A46_ENST00000447245.2_Frame_Shift_Del_p.W57fs|SLC25A46_ENST00000513807.1_Intron|SLC25A46_ENST00000504098.1_5'Flank|SLC25A46_ENST00000509442.2_Intron	NM_138773.1	NP_620128.1	Q96AG3	S2546_HUMAN	solute carrier family 25, member 46	57					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10		all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156)		OV - Ovarian serous cystadenocarcinoma(64;2.58e-09)|Epithelial(69;7.29e-08)|all cancers(49;9.35e-06)|COAD - Colon adenocarcinoma(37;0.211)		AACCTGCACTGGGGCGAGAAG	0.692																																						ENST00000355943.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10						c.(169-171)tgfs		solute carrier family 25, member 46							12.0	15.0	14.0					5																	110074990		2182	4279	6461	SO:0001589	frameshift_variant	91137				transport	integral to membrane|mitochondrial inner membrane		g.chr5:110074990delG	BC017169	CCDS4100.1	5q22.1	2013-05-22			ENSG00000164209	ENSG00000164209		"""Solute carriers"""	25198	protein-coding gene	gene with protein product		610826				1651562, 1651563, 16949250	Standard	NM_138773		Approved		uc003koz.3	Q96AG3	OTTHUMG00000128794	ENST00000355943.3:c.170delG	5.37:g.110074990delG	ENSP00000348211:p.Trp57fs					SLC25A46_ENST00000447245.2_Frame_Shift_Del_p.W57fs|SLC25A46_ENST00000513807.1_Intron|SLC25A46_ENST00000509442.2_Intron	p.W57fs	NM_138773.1	NP_620128.1	Q96AG3	S2546_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.58e-09)|Epithelial(69;7.29e-08)|all cancers(49;9.35e-06)|COAD - Colon adenocarcinoma(37;0.211)	1	296	+		all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156)	57					A8K2F2|B3KRE6|B4DTA3|D3DSZ6|D6R9W7|Q04197	Frame_Shift_Del	DEL	ENST00000355943.3	37	c.170delG	CCDS4100.1																																																																																				0.692	SLC25A46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250721.5	NM_138773		2	4						2	4	---	---	---	---
TMEM184A	202915	broad.mit.edu	37	7	1586662	1586663	+	In_Frame_Ins	INS	-	-	GCC	rs3837151|rs3779607	byFrequency	TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr7:1586662_1586663insGCC	ENST00000297477.5	-	9	1483_1484	c.1167_1168insGGC	c.(1165-1170)cccagc>cccGGCagc	p.389_390PS>PGS	TMEM184A_ENST00000449955.1_5'Flank	NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	389			S -> G (in dbSNP:rs3779607). {ECO:0000269|PubMed:15489334}.		germ-line sex determination (GO:0018992)|regulation of protein localization (GO:0032880)|regulation of secretion (GO:0051046)	early endosome membrane (GO:0031901)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		GAGCCGCCGCTGGGGTGGGTGC	0.703																																						ENST00000297477.5																			0				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12						c.(1165-1170)ccgcgg>ccGGCgcgg		transmembrane protein 184A				1912,2170		535,842,664						-3.6	0.0		dbSNP_132	17	3872,4214		1028,1816,1199	no	coding	TMEM184A	NM_001097620.1		1563,2658,1863	A1A1,A1R,RR		47.8852,46.8398,47.5345				5784,6384				SO:0001652	inframe_insertion	202915					integral to membrane		g.chr7:1586662_1586663insGCC		CCDS43537.1	7p22.3	2008-05-02			ENSG00000164855	ENSG00000164855			28797	protein-coding gene	gene with protein product						12477932	Standard	NM_001097620		Approved	MGC9712	uc003skv.4	Q6ZMB5	OTTHUMG00000119025	ENST00000297477.5:c.1167_1168insGGC	7.37:g.1586662_1586663insGCC	ENSP00000297477:p.Pro389_Ser390insGly						p.389_390PR>PAR	NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)	9	1483_1484	-		Ovarian(82;0.0253)	389					Q8TBQ6	In_Frame_Ins	INS	ENST00000297477.5	37	c.1167_1168insGGC	CCDS43537.1																																																																																				0.703	TMEM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239229.4	NM_152689		7	38						7	38	---	---	---	---
WDR81	124997	broad.mit.edu	37	17	1640948	1640949	+	Frame_Shift_Ins	INS	-	-	G			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr17:1640948_1640949insG	ENST00000409644.1	+	10	5795_5796	c.5795_5796insG	c.(5794-5799)tcagacfs	p.D1933fs	WDR81_ENST00000437219.2_Frame_Shift_Ins_p.D730fs|WDR81_ENST00000309182.5_Frame_Shift_Ins_p.D882fs|WDR81_ENST00000419248.1_Frame_Shift_Ins_p.D706fs|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000545662.1_Frame_Shift_Ins_p.D564fs|WDR81_ENST00000446363.1_Frame_Shift_Ins_p.D572fs	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	1933					negative regulation of phosphatase activity (GO:0010923)		transferase activity, transferring phosphorus-containing groups (GO:0016772)	p.S881S(2)|p.S1932S(2)|p.S729S(2)		cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CTGCTGGGCTCAGACAACGGGG	0.653																																						ENST00000409644.1																			6	Substitution - coding silent(6)	p.S881S(2)|p.S1932S(2)|p.S729S(2)	lung(6)	cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16						c.(5794-5796)tgafs		WD repeat domain 81																																				SO:0001589	frameshift_variant	124997							g.chr17:1640948_1640949insG	AK074111	CCDS54061.1, CCDS54062.1, CCDS54063.1	17p13.3	2014-06-13			ENSG00000167716	ENSG00000167716		"""WD repeat domain containing"""	26600	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 166"""	614218					Standard	NM_001163673		Approved	FLJ33817, PPP1R166	uc002ftj.2	Q562E7	OTTHUMG00000153941	Exception_encountered	17.37:g.1640948_1640949insG	ENSP00000386609:p.Asp1933fs					WDR81_ENST00000545662.1_Frame_Shift_Ins_p.*563fs|WDR81_ENST00000446363.1_Frame_Shift_Ins_p.*571fs|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000309182.5_Frame_Shift_Ins_p.*881fs|WDR81_ENST00000437219.2_Frame_Shift_Ins_p.*729fs|WDR81_ENST00000419248.1_Frame_Shift_Ins_p.*705fs	p.*1932fs	NM_001163809.1	NP_001157281.1	B3KXU1	B3KXU1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	10	5795_5796	+			705					B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Frame_Shift_Ins	INS	ENST00000409644.1	37	c.5795_5796insG	CCDS54062.1																																																																																				0.653	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333118.2	NM_152348		17	30						17	30	---	---	---	---
CAPN12	147968	broad.mit.edu	37	19	39224801	39224801	+	Frame_Shift_Del	DEL	C	C	-			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr19:39224801delC	ENST00000328867.4	-	17	2167	c.1859delG	c.(1858-1860)ggcfs	p.G620fs	CAPN12_ENST00000601953.1_Frame_Shift_Del_p.G471fs	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	calpain 12	620	Domain IV.|EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			CAGGAGGTAGCCCCAGAGCTG	0.572																																						ENST00000328867.4																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20						c.(1858-1860)gcfs		calpain 12							61.0	63.0	62.0					19																	39224801		2199	4299	6498	SO:0001589	frameshift_variant	147968				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr19:39224801delC	BC014027	CCDS12519.1	19q13.2	2014-08-12			ENSG00000182472	ENSG00000182472		"""EF-hand domain containing"""	13249	protein-coding gene	gene with protein product		608839					Standard	NM_144691		Approved		uc002ojd.1	Q6ZSI9	OTTHUMG00000182525	ENST00000328867.4:c.1859delG	19.37:g.39224801delC	ENSP00000331636:p.Gly620fs					CAPN12_ENST00000601953.1_Frame_Shift_Del_p.G471fs	p.G620fs	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)		17	2167	-	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		620			Domain IV.|EF-hand.			Frame_Shift_Del	DEL	ENST00000328867.4	37	c.1859delG	CCDS12519.1																																																																																				0.572	CAPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462151.1			23	8						23	8	---	---	---	---
CIC	23152	broad.mit.edu	37	19	42795609	42795609	+	Frame_Shift_Del	DEL	C	C	-			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr19:42795609delC	ENST00000575354.2	+	10	2729	c.2689delC	c.(2689-2691)cccfs	p.P898fs	CIC_ENST00000160740.3_Frame_Shift_Del_p.P898fs|CIC_ENST00000572681.2_Frame_Shift_Del_p.P1807fs	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	898	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CTCCGCCCCACCCCCCAAAGG	0.607			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(5416-5418)ccfs		capicua transcriptional repressor							53.0	53.0	53.0					19																	42795609		2174	4270	6444	SO:0001589	frameshift_variant	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42795609delC	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.2689delC	19.37:g.42795609delC	ENSP00000458663:p.Pro898fs					CIC_ENST00000160740.3_Frame_Shift_Del_p.P898fs|CIC_ENST00000575354.2_Frame_Shift_Del_p.P898fs	p.P1807fs			Q96RK0	CIC_HUMAN			11	5484	+		Prostate(69;0.00682)	898					Q7LGI1|Q9UEG5|Q9Y6T1	Frame_Shift_Del	DEL	ENST00000575354.2	37	c.5416delC	CCDS12601.1																																																																																				0.607	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			8	71						8	71	---	---	---	---
