#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
OBSCN	84033	broad.mit.edu	37	1	228528530	228528530	+	Missense_Mutation	SNP	G	G	A	rs201876707		TCGA-EJ-5506-01A-01D-1576-08	TCGA-EJ-5506-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9	30a0b8d5-11a9-4367-9979-d2c6906f30cc	g.chr1:228528530G>A	ENST00000422127.1	+	72	17682	c.17638G>A	c.(17638-17640)Gtg>Atg	p.V5880M	OBSCN_ENST00000570156.2_Missense_Mutation_p.V6837M|OBSCN_ENST00000366709.4_Missense_Mutation_p.V2999M|OBSCN_ENST00000366707.4_Missense_Mutation_p.V3514M|OBSCN_ENST00000284548.11_Missense_Mutation_p.V5880M	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5880					apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.V6462M(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CAAGCTGCACGTGTCCCTCAT	0.672													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15738	0.0		0.0	False		,,,				2504	0.0					ENST00000570156.2																			1	Substitution - Missense(1)	p.V6462M(1)	prostate(1)	NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(20509-20511)Gtg>Atg		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF		G	MET/VAL,MET/VAL	6,4050		0,6,2022	16.0	19.0	18.0		17638,17638	4.1	1.0	1		18	0,8348		0,0,4174	yes	missense,missense	OBSCN	NM_001098623.1,NM_052843.2	21,21	0,6,6196	AA,AG,GG		0.0,0.1479,0.0484	probably-damaging,probably-damaging	5880/7969,5880/6621	228528530	6,12398	2028	4174	6202	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228528530G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.17638G>A	1.37:g.228528530G>A	ENSP00000409493:p.Val5880Met					OBSCN_ENST00000422127.1_Missense_Mutation_p.V5880M|OBSCN_ENST00000366709.4_Missense_Mutation_p.V2999M|OBSCN_ENST00000366707.4_Missense_Mutation_p.V3514M|OBSCN_ENST00000284548.11_Missense_Mutation_p.V5880M	p.V6837M	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			83	20583	+		Prostate(94;0.0405)	5880					Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.20509G>A	CCDS58065.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.2|23.2	4.389209|4.389209	0.82902|0.82902	0.001479|0.001479	0.0|0.0	ENSG00000154358|ENSG00000154358	ENST00000441106|ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	.|T;T;T;T	.|0.62941	.|0.37;-0.01;0.03;0.51	5.04|5.04	4.12|4.12	0.48240|0.48240	.|.	.|0.082233	.|0.48286	.|D	.|0.000193	T|T	0.70806|0.70806	0.3266|0.3266	L|L	0.59436|0.59436	1.845|1.845	0.43018|0.43018	D|D	0.994563|0.994563	.|D;D	.|0.76494	.|0.997;0.999	.|P;P	.|0.57324	.|0.743;0.818	T|T	0.75271|0.75271	-0.3376|-0.3376	5|10	.|0.72032	.|D	.|0.01	.|.	14.0163|14.0163	0.64525|0.64525	0.0:0.151:0.849:0.0|0.0:0.151:0.849:0.0	.|.	.|5880;5880	.|Q5VST9;Q5VST9-3	.|OBSCN_HUMAN;.	H|M	496|5880;5880;3514;2999	.|ENSP00000284548:V5880M;ENSP00000409493:V5880M;ENSP00000355668:V3514M;ENSP00000355670:V2999M	.|ENSP00000284548:V5880M	R|V	+|+	2|1	0|0	OBSCN|OBSCN	226595153|226595153	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.385000|0.385000	0.30292|0.30292	4.506000|4.506000	0.60428|0.60428	1.347000|1.347000	0.45714|0.45714	0.555000|0.555000	0.69702|0.69702	CGT|GTG		0.672	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		4	9	0	0	0	1	0	4	9				
DHX38	9785	broad.mit.edu	37	16	72130068	72130068	+	Silent	SNP	C	C	T			TCGA-EJ-5506-01A-01D-1576-08	TCGA-EJ-5506-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9	30a0b8d5-11a9-4367-9979-d2c6906f30cc	g.chr16:72130068C>T	ENST00000268482.3	+	2	521	c.12C>T	c.(10-12)acC>acT	p.T4T	TXNL4B_ENST00000268483.3_5'Flank|DHX38_ENST00000536867.1_Silent_p.T4T|TXNL4B_ENST00000423037.1_5'Flank|TXNL4B_ENST00000426362.2_5'Flank	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	4					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)	p.T4T(1)		endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				TGGGGGACACCAGTGAGGATG	0.498																																					Melanoma(97;711 1442 7855 13832 28836)	ENST00000268482.3																			1	Substitution - coding silent(1)	p.T4T(1)	prostate(1)	endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48						c.(10-12)acC>acT		DEAH (Asp-Glu-Ala-His) box polypeptide 38							73.0	58.0	63.0					16																	72130068		2198	4300	6498	SO:0001819	synonymous_variant	9785				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr16:72130068C>T	AF038391	CCDS10907.1	16q22	2008-02-05	2003-06-13	2003-06-20	ENSG00000140829	ENSG00000140829		"""DEAH-boxes"""	17211	protein-coding gene	gene with protein product		605584	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 38"""	DDX38		9524131, 9039502	Standard	NM_014003		Approved	PRP16, KIAA0224, hPrp16, PRPF16	uc002fcb.3	Q92620	OTTHUMG00000137596	ENST00000268482.3:c.12C>T	16.37:g.72130068C>T						DHX38_ENST00000536867.1_Silent_p.T4T	p.T4T	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN			2	521	+		Ovarian(137;0.125)	4					B4DVG8|D3DWS7|O75212|Q96HN7	Silent	SNP	ENST00000268482.3	37	c.12C>T	CCDS10907.1																																																																																				0.498	DHX38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269004.3	NM_014003		5	149	0	0	0	1	0	5	149				
CILP	8483	broad.mit.edu	37	15	65489559	65489559	+	Missense_Mutation	SNP	C	C	T	rs200825053		TCGA-EJ-5506-01A-01D-1576-08	TCGA-EJ-5506-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9	30a0b8d5-11a9-4367-9979-d2c6906f30cc	g.chr15:65489559C>T	ENST00000261883.4	-	9	3231	c.3065G>A	c.(3064-3066)cGc>cAc	p.R1022H		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	1022					negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)		p.R1022H(1)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						CACCAGGGTGCGGTCCACACG	0.592																																						ENST00000261883.4																			1	Substitution - Missense(1)	p.R1022H(1)	prostate(1)	breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						c.(3064-3066)cGc>cAc		cartilage intermediate layer protein, nucleotide pyrophosphohydrolase							103.0	70.0	81.0					15																	65489559		2202	4299	6501	SO:0001583	missense	8483				negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix		g.chr15:65489559C>T	AY358904	CCDS10203.1	15q22	2013-01-14			ENSG00000138615	ENSG00000138615		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1980	protein-coding gene	gene with protein product		603489				9722584, 9722583	Standard	NM_003613		Approved	HsT18872	uc002aon.2	O75339	OTTHUMG00000133140	ENST00000261883.4:c.3065G>A	15.37:g.65489559C>T	ENSP00000261883:p.Arg1022His						p.R1022H	NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN			9	3231	-			1022					B2R8F7|Q6UW99|Q8IYI5	Missense_Mutation	SNP	ENST00000261883.4	37	c.3065G>A	CCDS10203.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.166182	0.78339	.	.	ENSG00000138615	ENST00000261883	T	0.11277	2.79	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.36413	0.0966	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	T	0.08472	-1.0720	10	0.72032	D	0.01	-3.9489	18.4768	0.90795	0.0:1.0:0.0:0.0	.	1022	O75339	CILP1_HUMAN	H	1022	ENSP00000261883:R1022H	ENSP00000261883:R1022H	R	-	2	0	CILP	63276612	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.795000	0.85887	2.608000	0.88229	0.655000	0.94253	CGC		0.592	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256829.1	NM_003613		5	77	0	0	0	1	0	5	77				
MFHAS1	9258	broad.mit.edu	37	8	8749969	8749969	+	Silent	SNP	C	C	A			TCGA-EJ-5506-01A-01D-1576-08	TCGA-EJ-5506-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9	30a0b8d5-11a9-4367-9979-d2c6906f30cc	g.chr8:8749969C>A	ENST00000276282.6	-	1	1186	c.600G>T	c.(598-600)ctG>ctT	p.L200L		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	200								p.L200L(1)		endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		CCAGCTGCAGCAGCTGCCGGG	0.672																																					Melanoma(103;1201 2045 17515 28966)	ENST00000276282.6																			1	Substitution - coding silent(1)	p.L200L(1)	prostate(1)	endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21						c.(598-600)ctG>ctT		malignant fibrous histiocytoma amplified sequence 1							18.0	21.0	20.0					8																	8749969		2194	4299	6493	SO:0001819	synonymous_variant	9258							g.chr8:8749969C>A	AB016816	CCDS34844.1	8p23.1	2014-03-07			ENSG00000147324	ENSG00000147324			16982	protein-coding gene	gene with protein product	"""leucine rich repeat containing 65"", ""malignant fibrous histiocytoma-amplified sequences with leucine-rich tandem repeats 1"""	605352				9973190	Standard	NM_004225		Approved	MASL1, LRRC65	uc003wsj.1	Q9Y4C4	OTTHUMG00000163676	ENST00000276282.6:c.600G>T	8.37:g.8749969C>A							p.L200L	NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN		COAD - Colon adenocarcinoma(149;0.124)	1	1186	-		Hepatocellular(245;0.217)	200					Q96CI0	Silent	SNP	ENST00000276282.6	37	c.600G>T	CCDS34844.1																																																																																				0.672	MFHAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374724.2	NM_004225		3	22	1	0	1	1	1	3	22				
DHTKD1	55526	broad.mit.edu	37	10	12143062	12143062	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5506-01A-01D-1576-08	TCGA-EJ-5506-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9	30a0b8d5-11a9-4367-9979-d2c6906f30cc	g.chr10:12143062G>A	ENST00000263035.4	+	10	1840	c.1778G>A	c.(1777-1779)gGc>gAc	p.G593D		NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	593					cell death (GO:0008219)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hematopoietic progenitor cell differentiation (GO:0002244)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)	p.G593D(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			CGTCTAAGTGGCCAAGATGTT	0.408																																						ENST00000263035.4																			1	Substitution - Missense(1)	p.G593D(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44						c.(1777-1779)gGc>gAc		dehydrogenase E1 and transketolase domain containing 1							188.0	172.0	177.0					10																	12143062		2203	4300	6503	SO:0001583	missense	55526				glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:12143062G>A	BC002477	CCDS7087.1	10p14	2003-11-24			ENSG00000181192	ENSG00000181192			23537	protein-coding gene	gene with protein product		614984				10997877	Standard	NM_018706		Approved	KIAA1630, MGC3090, DKFZP762M115	uc001ild.5	Q96HY7	OTTHUMG00000017677	ENST00000263035.4:c.1778G>A	10.37:g.12143062G>A	ENSP00000263035:p.Gly593Asp						p.G593D	NM_018706.5	NP_061176.3	Q96HY7	DHTK1_HUMAN	BRCA - Breast invasive adenocarcinoma(52;0.188)		10	1840	+		Renal(717;0.228)	593					Q68CU5|Q9BUM8|Q9HCE2	Missense_Mutation	SNP	ENST00000263035.4	37	c.1778G>A	CCDS7087.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.198923|5.198923	0.94997|0.94997	.|.	.|.	ENSG00000181192|ENSG00000181192	ENST00000263035|ENST00000448829	D|.	0.93488|.	-3.23|.	5.48|5.48	5.48|5.48	0.80851|0.80851	Transketolase-like, pyrimidine-binding domain (2);|.	0.089941|.	0.85682|.	D|.	0.000000|.	D|.	0.88284|.	0.6395|.	H|H	0.96748|0.96748	3.875|3.875	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|.	0.91992|.	0.5604|.	10|.	0.87932|.	D|.	0|.	-8.3663|-8.3663	17.5351|17.5351	0.87827|0.87827	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	593|.	Q96HY7|.	DHTK1_HUMAN|.	D|X	593|144	ENSP00000263035:G593D|.	ENSP00000263035:G593D|.	G|W	+|+	2|3	0|0	DHTKD1|DHTKD1	12183068|12183068	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	8.936000|8.936000	0.92931|0.92931	2.581000|2.581000	0.87130|0.87130	0.655000|0.655000	0.94253|0.94253	GGC|TGG		0.408	DHTKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046777.1	NM_018706		16	349	0	0	0	1	0	16	349				
PCDHGA2	56113	broad.mit.edu	37	5	140720213	140720213	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5506-01A-01D-1576-08	TCGA-EJ-5506-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9	30a0b8d5-11a9-4367-9979-d2c6906f30cc	g.chr5:140720213G>A	ENST00000394576.2	+	1	1675	c.1675G>A	c.(1675-1677)Gcg>Acg	p.A559T	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	559	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A559T(2)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAACGACAACGCGCCCGAGAT	0.622																																						ENST00000394576.2																			2	Substitution - Missense(2)	p.A559T(2)	prostate(2)	breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(1675-1677)Gcg>Acg									153.0	154.0	153.0					5																	140720213		2203	4300	6503	SO:0001583	missense	0							g.chr5:140720213G>A	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.1675G>A	5.37:g.140720213G>A	ENSP00000378077:p.Ala559Thr					PCDHGA1_ENST00000517417.1_Intron	p.A559T	NM_018915.2	NP_061738.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1675	+								Q52LL6|Q9Y5D5	Missense_Mutation	SNP	ENST00000394576.2	37	c.1675G>A	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	3.484	-0.105364	0.06967	.	.	ENSG00000081853	ENST00000394576	T	0.03181	4.02	5.02	-2.35	0.06684	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	1.143520	0.06915	N	0.808345	T	0.04497	0.0123	L	0.53249	1.67	0.09310	N	1	B;B	0.18968	0.002;0.032	B;B	0.17722	0.019;0.012	T	0.43410	-0.9393	10	0.36615	T	0.2	.	5.824	0.18544	0.327:0.2199:0.4531:0.0	.	559;559	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	T	559	ENSP00000378077:A559T	ENSP00000378077:A559T	A	+	1	0	PCDHGA2	140700397	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.061000	0.03472	-0.807000	0.04393	-0.895000	0.02911	GCG		0.622	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		14	278	0	0	0	1	0	14	278				
GOLGA6L3	100133220	broad.mit.edu	37	15	83014106	83014106	+	Silent	SNP	T	T	C	rs62009901		TCGA-EJ-5506-01A-01D-1576-08	TCGA-EJ-5506-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9	30a0b8d5-11a9-4367-9979-d2c6906f30cc	g.chr15:83014106T>C	ENST00000557886.1	-	6	576	c.477A>G	c.(475-477)gtA>gtG	p.V159V															p.V159V(12)		endometrium(6)|kidney(5)|prostate(1)	12						GTAGCTGCTCTACCTTAGATG	0.498																																						ENST00000557886.1																			12	Substitution - coding silent(12)	p.V159V(12)	kidney(6)|endometrium(4)|prostate(2)	endometrium(6)|kidney(5)|prostate(1)	12						c.(475-477)gtA>gtG																																						SO:0001819	synonymous_variant	0							g.chr15:83014106T>C																												ENST00000557886.1:c.477A>G	15.37:g.83014106T>C							p.V159V							6	576	-									Silent	SNP	ENST00000557886.1	37	c.477A>G																																																																																					0.498	RP13-996F3.4-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000419277.1			3	2	0	0	0	1	0	3	2				
STAT3	6774	broad.mit.edu	37	17	40476777	40476777	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-5506-01A-01D-1576-08	TCGA-EJ-5506-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9	30a0b8d5-11a9-4367-9979-d2c6906f30cc	g.chr17:40476777G>A	ENST00000264657.5	-	17	1864	c.1552C>T	c.(1552-1554)Cga>Tga	p.R518*	STAT3_ENST00000585517.1_Nonsense_Mutation_p.R518*|STAT3_ENST00000389272.3_Nonsense_Mutation_p.R420*|STAT3_ENST00000588969.1_Nonsense_Mutation_p.R518*|STAT3_ENST00000404395.3_Nonsense_Mutation_p.R518*	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	518					acute-phase response (GO:0006953)|astrocyte differentiation (GO:0048708)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|cytokine-mediated signaling pathway (GO:0019221)|eating behavior (GO:0042755)|eye photoreceptor cell differentiation (GO:0001754)|glucose homeostasis (GO:0042593)|growth hormone receptor signaling pathway (GO:0060396)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular receptor signaling pathway (GO:0030522)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron migration (GO:2001223)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|radial glial cell differentiation (GO:0060019)|regulation of multicellular organism growth (GO:0040014)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|sexual reproduction (GO:0019953)|signal transduction (GO:0007165)|stem cell maintenance (GO:0019827)|temperature homeostasis (GO:0001659)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.R518*(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		CTCAGTCCTCGCTTGGTGGTG	0.547									Hyperimmunoglobulin E Recurrent Infection Syndrome																													ENST00000264657.5																			1	Substitution - Nonsense(1)	p.R518*(1)	prostate(1)	breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1552-1554)Cga>Tga		signal transducer and activator of transcription 3 (acute-phase response factor)							78.0	74.0	75.0					17																	40476777		2203	4300	6503	SO:0001587	stop_gained	6774	Hyperimmunoglobulin E Recurrent Infection Syndrome	Familial Cancer Database	HIES, Hyper IgE syndrome, autosomal dominant (Job syndrome) / recessive	cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding	g.chr17:40476777G>A	BC014482	CCDS32656.1, CCDS32657.1, CCDS59288.1	17q21	2014-09-17			ENSG00000168610	ENSG00000168610		"""SH2 domain containing"""	11364	protein-coding gene	gene with protein product		102582				7512451	Standard	NM_139276		Approved	APRF	uc002hzl.1	P40763	OTTHUMG00000150645	ENST00000264657.5:c.1552C>T	17.37:g.40476777G>A	ENSP00000264657:p.Arg518*					STAT3_ENST00000588969.1_Nonsense_Mutation_p.R518*|STAT3_ENST00000585517.1_Nonsense_Mutation_p.R518*|STAT3_ENST00000404395.3_Nonsense_Mutation_p.R518*|STAT3_ENST00000389272.3_Nonsense_Mutation_p.R420*	p.R518*	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.139)	17	1864	-		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)	518					A8K7B8|K7ENL3|O14916|Q9BW54	Nonsense_Mutation	SNP	ENST00000264657.5	37	c.1552C>T	CCDS32656.1	.	.	.	.	.	.	.	.	.	.	G	38	7.138393	0.98088	.	.	ENSG00000168610	ENST00000264657;ENST00000389272;ENST00000404395	.	.	.	5.63	5.63	0.86233	.	0.053895	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.1309	19.679	0.95950	0.0:0.0:1.0:0.0	.	.	.	.	X	518;420;518	.	ENSP00000264657:R518X	R	-	1	2	STAT3	37730303	1.000000	0.71417	0.997000	0.53966	0.698000	0.40448	3.018000	0.49625	2.651000	0.90000	0.655000	0.94253	CGA		0.547	STAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319353.3	NM_139276, NM_003150		5	114	0	0	0	1	0	5	114				
PDCD1	5133	broad.mit.edu	37	2	242794939	242794939	+	Silent	SNP	G	G	T			TCGA-EJ-5506-01A-01D-1576-08	TCGA-EJ-5506-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9	30a0b8d5-11a9-4367-9979-d2c6906f30cc	g.chr2:242794939G>T	ENST00000334409.5	-	2	339	c.270C>A	c.(268-270)ggC>ggA	p.G90G		NM_005018.2	NP_005009.2	Q15116	PDCD1_HUMAN	programmed cell death 1	90	Ig-like V-type.				apoptotic process (GO:0006915)|humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)	p.G90G(1)		endometrium(1)|lung(2)|ovary(1)|prostate(3)|skin(1)	8		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0219)		GGCAGTCCTGGCCGGGCTGGC	0.647																																						ENST00000334409.5																			1	Substitution - coding silent(1)	p.G90G(1)	prostate(1)	endometrium(1)|lung(2)|ovary(1)|prostate(3)|skin(1)	8						c.(268-270)ggC>ggA		programmed cell death 1							41.0	42.0	42.0					2																	242794939		2203	4300	6503	SO:0001819	synonymous_variant	5133				apoptosis|humoral immune response|multicellular organismal development|T cell costimulation	integral to membrane	protein tyrosine phosphatase activity|signal transducer activity	g.chr2:242794939G>T	AY206416	CCDS33428.1	2q37.3	2014-01-29			ENSG00000188389	ENSG00000188389		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	8760	protein-coding gene	gene with protein product		600244	"""systemic lupus erythematosus susceptibility 2"""	SLEB2		7851902, 12402038	Standard	NM_005018		Approved	CD279, PD1, hSLE1	uc002wcq.4	Q15116	OTTHUMG00000151342	ENST00000334409.5:c.270C>A	2.37:g.242794939G>T							p.G90G	NM_005018.2	NP_005009.2	Q15116	PDCD1_HUMAN		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0219)	2	339	-		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	90			Ig-like V-type.		O00517|Q8IX89	Silent	SNP	ENST00000334409.5	37	c.270C>A	CCDS33428.1	.	.	.	.	.	.	.	.	.	.	.	3.589	-0.084085	0.07097	.	.	ENSG00000188389	ENST00000343705	.	.	.	3.41	1.45	0.22620	.	.	.	.	.	T	0.33118	0.0852	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.24119	-1.0169	4	.	.	.	-3.3333	8.0441	0.30538	0.0:0.0:0.511:0.489	.	.	.	.	T	34	.	.	P	-	1	0	PDCD1	242443612	0.001000	0.12720	0.000000	0.03702	0.461000	0.32589	0.233000	0.17911	0.374000	0.24650	-0.322000	0.08575	CCA		0.647	PDCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322313.1	NM_005018		5	44	1	0	0.00116845	1	0.00127467	5	44				
CCDC71	64925	broad.mit.edu	37	3	49201589	49201589	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5506-01A-01D-1576-08	TCGA-EJ-5506-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9	30a0b8d5-11a9-4367-9979-d2c6906f30cc	g.chr3:49201589C>T	ENST00000321895.6	-	2	159	c.53G>A	c.(52-54)cGc>cAc	p.R18H		NM_022903.3	NP_075054.3	Q8IV32	CCD71_HUMAN	coiled-coil domain containing 71	18								p.R18H(1)		endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	10				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CGTGGAGATGCGCGACCAGGA	0.572																																						ENST00000321895.6																			1	Substitution - Missense(1)	p.R18H(1)	prostate(1)	endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	10						c.(52-54)cGc>cAc		coiled-coil domain containing 71							60.0	56.0	58.0					3																	49201589		2203	4300	6503	SO:0001583	missense	64925							g.chr3:49201589C>T	AK022862	CCDS2790.1	3p21.31	2014-02-12			ENSG00000177352	ENSG00000177352			25760	protein-coding gene	gene with protein product						12477932	Standard	NM_022903		Approved	FLJ12800	uc003cwg.4	Q8IV32	OTTHUMG00000156815	ENST00000321895.6:c.53G>A	3.37:g.49201589C>T	ENSP00000319006:p.Arg18His						p.R18H	NM_022903.3	NP_075054.3	Q8IV32	CCD71_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	2	159	-			18					Q6IPE2|Q9H8H4|Q9H9F1	Missense_Mutation	SNP	ENST00000321895.6	37	c.53G>A	CCDS2790.1	.	.	.	.	.	.	.	.	.	.	C	18.00	3.526350	0.64860	.	.	ENSG00000177352	ENST00000321895	T	0.45276	0.9	5.83	4.96	0.65561	.	0.067431	0.53938	N	0.000052	T	0.41419	0.1158	M	0.68952	2.095	0.44123	D	0.996903	P	0.38420	0.63	B	0.31946	0.138	T	0.48091	-0.9065	10	0.87932	D	0	-25.342	14.841	0.70223	0.0:0.9314:0.0:0.0686	.	18	Q8IV32	CCD71_HUMAN	H	18	ENSP00000319006:R18H	ENSP00000319006:R18H	R	-	2	0	CCDC71	49176593	1.000000	0.71417	0.925000	0.36789	0.982000	0.71751	7.008000	0.76341	1.490000	0.48466	0.650000	0.86243	CGC		0.572	CCDC71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345980.1	NM_022903		5	97	0	0	0	1	0	5	97				
DPY19L2P2	349152	broad.mit.edu	37	7	102825947	102825947	+	RNA	SNP	A	A	G			TCGA-EJ-5506-01A-01D-1576-08	TCGA-EJ-5506-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9	30a0b8d5-11a9-4367-9979-d2c6906f30cc	g.chr7:102825947A>G	ENST00000312132.4	-	0	3750							Q6ZN68	D19P2_HUMAN	DPY19L2 pseudogene 2							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										ACAGCTTGACACTTGCCATTG	0.373																																						ENST00000312132.4																			0																																																			0							g.chr7:102825947A>G	AL834175		7q22.1	2013-09-12	2013-09-12		ENSG00000170629	ENSG00000170629			21764	pseudogene	pseudogene			"""dpy-19-like 2 pseudogene 2 (C. elegans)"""				Standard	NR_027768		Approved	DKFZp434E092, FLJ36166	uc003vbh.4	Q6ZN68	OTTHUMG00000157200		7.37:g.102825947A>G														0	3750	-								Q8N9V4|Q8ND62	RNA	SNP	ENST00000312132.4	37																																																																																						0.373	DPY19L2P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347877.1	NM_182634		5	117	0	0	0	1	0	5	117				
SGSM2	9905	broad.mit.edu	37	17	2267466	2267466	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5506-01A-01D-1576-08	TCGA-EJ-5506-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9	30a0b8d5-11a9-4367-9979-d2c6906f30cc	g.chr17:2267466G>T	ENST00000426855.2	+	8	1096	c.921G>T	c.(919-921)gaG>gaT	p.E307D	SGSM2_ENST00000574563.1_Missense_Mutation_p.E307D|SGSM2_ENST00000268989.3_Missense_Mutation_p.E307D	NM_001098509.1	NP_001091979.1	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	307					late endosome to Golgi transport (GO:0034499)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)		Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)	p.E307D(1)		biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		GGGACTCCGAGCTGGAAAAGA	0.617																																						ENST00000268989.3																			1	Substitution - Missense(1)	p.E307D(1)	prostate(1)	biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(919-921)gaG>gaT		small G protein signaling modulator 2							35.0	38.0	37.0					17																	2267466		2203	4300	6503	SO:0001583	missense	9905					intracellular	Rab GTPase activator activity	g.chr17:2267466G>T	BC039204	CCDS32526.1, CCDS45570.1	17p13.3	2013-07-10	2007-08-14	2007-08-14		ENSG00000141258		"""Small G protein signaling modulators"""	29026	protein-coding gene	gene with protein product		611418	"""RUN and TBC1 domain containing 1"""	RUTBC1		9455477, 17509819, 21808068	Standard	NM_014853		Approved	KIAA0397	uc002fum.4	O43147		ENST00000426855.2:c.921G>T	17.37:g.2267466G>T	ENSP00000415107:p.Glu307Asp					SGSM2_ENST00000426855.2_Missense_Mutation_p.E307D|SGSM2_ENST00000574563.1_Missense_Mutation_p.E307D	p.E307D	NM_014853.2	NP_055668.2	O43147	SGSM2_HUMAN		Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)	8	1098	+			307					A5LGW2|B4DH69|Q49AC2|Q6ZUY2|Q8IXU4	Missense_Mutation	SNP	ENST00000426855.2	37	c.921G>T	CCDS45570.1	.	.	.	.	.	.	.	.	.	.	G	8.897	0.955347	0.18507	.	.	ENSG00000141258	ENST00000268989;ENST00000426855	T;T	0.28666	1.6;1.6	5.6	5.6	0.85130	.	0.046010	0.85682	D	0.000000	T	0.14743	0.0356	N	0.08118	0	0.50171	D	0.999852	B;B;P	0.35155	0.005;0.371;0.487	B;B;B	0.35470	0.004;0.16;0.203	T	0.09164	-1.0687	10	0.02654	T	1	-1.4855	13.8735	0.63634	0.0752:0.0:0.9248:0.0	.	307;307;307	O43147-5;O43147;O43147-2	.;SGSM2_HUMAN;.	D	307	ENSP00000268989:E307D;ENSP00000415107:E307D	ENSP00000268989:E307D	E	+	3	2	SGSM2	2214216	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.027000	0.41078	2.653000	0.90120	0.563000	0.77884	GAG		0.617	SGSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438186.1	NM_014853		3	83	1	0	1	1	1	3	83				
PCDHA10	56139	broad.mit.edu	37	5	140235694	140235694	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5506-01A-01D-1576-08	TCGA-EJ-5506-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9	30a0b8d5-11a9-4367-9979-d2c6906f30cc	g.chr5:140235694G>A	ENST00000307360.5	+	1	61	c.61G>A	c.(61-63)Gca>Aca	p.A21T	PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.A21T|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	21					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A21T(2)		NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTTCTCCTCGCAGCCTGGGA	0.597																																						ENST00000307360.5																			2	Substitution - Missense(2)	p.A21T(2)	prostate(2)	NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79						c.(61-63)Gca>Aca									61.0	70.0	67.0					5																	140235694		2196	4273	6469	SO:0001583	missense	0							g.chr5:140235694G>A	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.61G>A	5.37:g.140235694G>A	ENSP00000304234:p.Ala21Thr					PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.A21T|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron	p.A21T	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	61	+								A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	37	c.61G>A	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	G	1.471	-0.559855	0.03967	.	.	ENSG00000250120	ENST00000506939;ENST00000307360	T;T	0.54866	0.55;0.67	4.31	-0.688	0.11317	.	.	.	.	.	T	0.43743	0.1261	L	0.28400	0.85	0.09310	N	1	B;B;D	0.61080	0.073;0.028;0.989	B;B;P	0.52514	0.047;0.02;0.701	T	0.38564	-0.9655	9	0.16420	T	0.52	.	7.3596	0.26739	0.4085:0.0:0.4844:0.1071	.	21;21;21	Q9Y5I2-3;Q9Y5I2;Q9Y5I2-2	.;PCDAA_HUMAN;.	T	21	ENSP00000421030:A21T;ENSP00000304234:A21T	ENSP00000304234:A21T	A	+	1	0	PCDHA10	140215878	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-1.104000	0.03326	-0.276000	0.09206	-1.134000	0.01955	GCA		0.597	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		7	58	0	0	0	1	0	7	58				
HIVEP2	3097	broad.mit.edu	37	6	143089660	143089660	+	Missense_Mutation	SNP	G	G	A	rs200645897		TCGA-EJ-5506-01A-01D-1576-08	TCGA-EJ-5506-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9	30a0b8d5-11a9-4367-9979-d2c6906f30cc	g.chr6:143089660G>A	ENST00000367604.1	-	5	5840	c.5201C>T	c.(5200-5202)gCg>gTg	p.A1734V	HIVEP2_ENST00000012134.2_Missense_Mutation_p.A1734V|HIVEP2_ENST00000367603.2_Missense_Mutation_p.A1734V			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1734					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A1734V(1)		NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TAAAAAGGACGCATCAGGTTT	0.398													G|||	1	0.000199681	0.0	0.0	5008	,	,		15016	0.001		0.0	False		,,,				2504	0.0				Esophageal Squamous(107;843 1510 13293 16805 42198)	ENST00000367603.2																			1	Substitution - Missense(1)	p.A1734V(1)	prostate(1)	NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100						c.(5200-5202)gCg>gTg		human immunodeficiency virus type I enhancer binding protein 2							119.0	108.0	111.0					6																	143089660		1836	4081	5917	SO:0001583	missense	3097				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:143089660G>A	M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"""Zinc fingers, C2H2-type"""	4921	protein-coding gene	gene with protein product	"""c-myc intron binding protein 1"""	143054	"""human immunodeficiency virus type I enhancer-binding protein 2"""			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.5201C>T	6.37:g.143089660G>A	ENSP00000356576:p.Ala1734Val					HIVEP2_ENST00000012134.2_Missense_Mutation_p.A1734V|HIVEP2_ENST00000367604.1_Missense_Mutation_p.A1734V	p.A1734V	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)	6	5943	-			1734					Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	ENST00000367604.1	37	c.5201C>T	CCDS43510.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	13.83	2.353238	0.41700	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.02216	4.39;4.39;4.39	5.51	3.69	0.42338	.	0.476073	0.25214	N	0.032288	T	0.01029	0.0034	L	0.51422	1.61	0.30444	N	0.775889	B	0.28605	0.217	B	0.19666	0.026	T	0.45396	-0.9264	10	0.42905	T	0.14	-3.5494	11.1988	0.48728	0.0692:0.1285:0.8023:0.0	.	1734	P31629	ZEP2_HUMAN	V	1734	ENSP00000356576:A1734V;ENSP00000356575:A1734V;ENSP00000012134:A1734V	ENSP00000012134:A1734V	A	-	2	0	HIVEP2	143131353	0.993000	0.37304	0.424000	0.26647	0.923000	0.55619	4.398000	0.59697	0.779000	0.33543	0.591000	0.81541	GCG		0.398	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1			11	216	0	0	0	1	0	11	216				
C9orf131	138724	broad.mit.edu	37	9	35042438	35042438	+	Nonsense_Mutation	SNP	C	C	T	rs144687989		TCGA-EJ-5506-01A-01D-1576-08	TCGA-EJ-5506-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9	30a0b8d5-11a9-4367-9979-d2c6906f30cc	g.chr9:35042438C>T	ENST00000312292.5	+	1	234	c.187C>T	c.(187-189)Cga>Tga	p.R63*	C9orf131_ENST00000354479.5_Intron|FLJ00273_ENST00000595331.1_Silent_p.S129S|C9orf131_ENST00000421362.2_Nonsense_Mutation_p.R15*	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	63								p.R63*(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			TGGGAGGTTGCGACAGCTTCA	0.532																																						ENST00000312292.5																			1	Substitution - Nonsense(1)	p.R63*(1)	prostate(1)	cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39						c.(187-189)Cga>Tga		chromosome 9 open reading frame 131							166.0	128.0	141.0					9																	35042438		2203	4300	6503	SO:0001587	stop_gained	138724							g.chr9:35042438C>T	BC045643	CCDS6572.2, CCDS47961.1, CCDS47962.1	9p13.3	2008-02-05			ENSG00000174038	ENSG00000174038			31418	protein-coding gene	gene with protein product							Standard	NM_001287391		Approved	MGC41945	uc003zvw.3	Q5VYM1	OTTHUMG00000019853	ENST00000312292.5:c.187C>T	9.37:g.35042438C>T	ENSP00000308279:p.Arg63*					C9orf131_ENST00000421362.2_Nonsense_Mutation_p.R15*|C9orf131_ENST00000354479.5_Intron|FLJ00273_ENST00000595331.1_Silent_p.S129S	p.R63*	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)		1	234	+	all_epithelial(49;0.22)		63					A6NLE6|E9PB26|Q86XC6|Q9UF74	Nonsense_Mutation	SNP	ENST00000312292.5	37	c.187C>T	CCDS6572.2	.	.	.	.	.	.	.	.	.	.	C	11.77	1.738916	0.30774	.	.	ENSG00000174038	ENST00000421362;ENST00000312292	.	.	.	4.78	3.87	0.44632	.	1.118960	0.07003	N	0.823622	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	2.1193	10.5202	0.44914	0.1932:0.8068:0.0:0.0	.	.	.	.	X	15;63	.	ENSP00000308279:R63X	R	+	1	2	C9orf131	35032438	0.988000	0.35896	0.185000	0.23176	0.008000	0.06430	1.776000	0.38594	1.351000	0.45789	0.655000	0.94253	CGA		0.532	C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052283.5	NM_203299		3	92	0	0	0	1	0	3	92				
GUSBP1	728411	broad.mit.edu	37	5	21497235	21497235	+	RNA	SNP	C	C	T			TCGA-EJ-5506-01A-01D-1576-08	TCGA-EJ-5506-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9	30a0b8d5-11a9-4367-9979-d2c6906f30cc	g.chr5:21497235C>T	ENST00000607545.1	+	0	179					NR_027026.1		Q15486	GUSP1_HUMAN	glucuronidase, beta pseudogene 1						carbohydrate metabolic process (GO:0005975)|nervous system development (GO:0007399)|skeletal system development (GO:0001501)		hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)										AGTTTGAGAACTGGTGTAAGA	0.488																																						ENST00000607545.1																			0																																																			0							g.chr5:21497235C>T	BC064850, X75940		5p14.3	2012-10-04			ENSG00000183666	ENSG00000183666			13670	pseudogene	pseudogene						8565635	Standard	NR_027026		Approved		uc010iub.3	Q15486	OTTHUMG00000162474		5.37:g.21497235C>T								NR_027026.1						0	179	+								A6NLY8|A8K1B7|Q969T8|Q9BUH2	RNA	SNP	ENST00000607545.1	37																																																																																						0.488	GUSBP1-006	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470546.1	NG_008324		4	58	0	0	0	1	0	4	58				
SCAI	286205	broad.mit.edu	37	9	127790688	127790688	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5506-01A-01D-1576-08	TCGA-EJ-5506-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9	30a0b8d5-11a9-4367-9979-d2c6906f30cc	g.chr9:127790688C>A	ENST00000336505.6	-	5	454	c.396G>T	c.(394-396)caG>caT	p.Q132H	SCAI_ENST00000373549.4_Missense_Mutation_p.Q155H	NM_001144877.2	NP_001138349.1	Q8N9R8	SCAI_HUMAN	suppressor of cancer cell invasion	132	Necessary to inhibit MKL1-induced SRF transcriptional activity. {ECO:0000250}.|Required for interaction with MKL1. {ECO:0000250}.				negative regulation of cell migration (GO:0030336)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)	p.Q155H(9)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						GATAGTATAGCTGCCCAATCT	0.338																																						ENST00000336505.5																			9	Substitution - Missense(9)	p.Q155H(9)	prostate(4)|kidney(3)|lung(2)	breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						c.(394-396)caG>caT		suppressor of cancer cell invasion							102.0	98.0	99.0					9																	127790688		1845	4080	5925	SO:0001583	missense	286205				negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|integral to membrane|nucleus	protein binding|transcription corepressor activity	g.chr9:127790688C>A	AK093983	CCDS43877.1, CCDS48017.1	9q34.11	2009-11-06	2009-07-09	2009-07-09	ENSG00000173611	ENSG00000173611			26709	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 126"""	C9orf126			Standard	NM_173690		Approved	FLJ36664, NET40	uc004bpd.3	Q8N9R8	OTTHUMG00000020667	ENST00000336505.6:c.396G>T	9.37:g.127790688C>A	ENSP00000336756:p.Gln132His					SCAI_ENST00000373549.4_Missense_Mutation_p.Q155H	p.Q132H	NM_001144877.2	NP_001138349.1	Q8N9R8	SCAI_HUMAN			5	454	-			132			Necessary to inhibit MKL1-induced SRF transcriptional activity (By similarity).|Required for interaction with MKL1 (By similarity).		Q3SXZ1|Q3SXZ2|Q5T163|Q8N1I4	Missense_Mutation	SNP	ENST00000336505.6	37	c.396G>T	CCDS48017.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.068788	0.76301	.	.	ENSG00000173611	ENST00000336505;ENST00000373549	T;T	0.57595	0.39;0.4	5.75	5.75	0.90469	.	0.103001	0.64402	D	0.000002	T	0.73426	0.3585	M	0.70275	2.135	0.53688	D	0.999974	D;D	0.65815	0.991;0.995	D;D	0.78314	0.991;0.989	T	0.74429	-0.3668	10	0.87932	D	0	-10.9266	19.2998	0.94140	0.0:1.0:0.0:0.0	.	132;155	Q8N9R8;Q8N9R8-2	SCAI_HUMAN;.	H	132;155	ENSP00000336756:Q132H;ENSP00000362650:Q155H	ENSP00000336756:Q132H	Q	-	3	2	SCAI	126830509	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.623000	0.46435	2.866000	0.98385	0.650000	0.86243	CAG		0.338	SCAI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054055.3	NM_173690		12	163	1	0	2.10051e-16	1	2.36307e-16	12	163				
ITGAM	3684	broad.mit.edu	37	16	31332891	31332891	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5506-01A-01D-1576-08	TCGA-EJ-5506-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9	30a0b8d5-11a9-4367-9979-d2c6906f30cc	g.chr16:31332891G>A	ENST00000287497.8	+	16	2020	c.1945G>A	c.(1945-1947)Gga>Aga	p.G649R	ITGAM_ENST00000544665.3_Missense_Mutation_p.G650R			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	649					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)	p.G649R(2)		endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CAAGGAAGCCGGAGAGGTCAG	0.517																																						ENST00000544665.3																			2	Substitution - Missense(2)	p.G649R(2)	prostate(1)|endometrium(1)	endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						c.(1948-1950)Gga>Aga		integrin, alpha M (complement component 3 receptor 3 subunit)							178.0	185.0	183.0					16																	31332891		2166	4279	6445	SO:0001583	missense	3684				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	g.chr16:31332891G>A	J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"""CD molecules"", ""Complement system"", ""Integrins"""	6149	protein-coding gene	gene with protein product		120980	"""integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"""	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.1945G>A	16.37:g.31332891G>A	ENSP00000287497:p.Gly649Arg					ITGAM_ENST00000287497.8_Missense_Mutation_p.G649R	p.G650R	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN			16	2019	+			649					Q4VAK0|Q4VAK1|Q4VAK2	Missense_Mutation	SNP	ENST00000287497.8	37	c.1948G>A	CCDS45470.1	.	.	.	.	.	.	.	.	.	.	G	15.83	2.948225	0.53186	.	.	ENSG00000169896	ENST00000544665;ENST00000287497	T;T	0.45668	0.89;0.89	4.83	4.83	0.62350	Integrin alpha-2 (1);	.	.	.	.	T	0.66982	0.2845	M	0.84846	2.72	0.34673	D	0.723857	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.993;0.993	T	0.78183	-0.2303	9	0.59425	D	0.04	.	13.2895	0.60262	0.0:0.0:1.0:0.0	.	55;649;649	B3KXM6;Q4VAK1;P11215	.;.;ITAM_HUMAN	R	650;649	ENSP00000441691:G650R;ENSP00000287497:G649R	ENSP00000287497:G649R	G	+	1	0	ITGAM	31240392	0.997000	0.39634	0.957000	0.39632	0.137000	0.21094	2.894000	0.48640	2.480000	0.83734	0.655000	0.94253	GGA		0.517	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1	NM_000632		16	304	0	0	0	1	0	16	304				
TTC17	55761	broad.mit.edu	37	11	43513626	43513626	+	Silent	SNP	C	C	T	rs200611245		TCGA-EJ-5506-01A-01D-1576-08	TCGA-EJ-5506-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9	30a0b8d5-11a9-4367-9979-d2c6906f30cc	g.chr11:43513626C>T	ENST00000039989.4	+	23	3221	c.3207C>T	c.(3205-3207)gaC>gaT	p.D1069D		NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	1069					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.D1069D(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						TCTGGAATGACGCCGTCATAG	0.517																																						ENST00000039989.4																			1	Substitution - coding silent(1)	p.D1069D(1)	prostate(1)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						c.(3205-3207)gaC>gaT		tetratricopeptide repeat domain 17		C		0,4406		0,0,2203	258.0	217.0	231.0		3207	-4.1	1.0	11		231	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	TTC17	NM_018259.5		0,4,6499	TT,TC,CC		0.0465,0.0,0.0308		1069/1142	43513626	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	55761						binding	g.chr11:43513626C>T	AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"""Tetratricopeptide (TTC) repeat domain containing"""	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.3207C>T	11.37:g.43513626C>T							p.D1069D	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN			23	3221	+			1069					G3XAB3|Q8NEC0	Silent	SNP	ENST00000039989.4	37	c.3207C>T	CCDS31466.1	.	.	.	.	.	.	.	.	.	.	C	9.039	0.989158	0.18966	0.0	4.65E-4	ENSG00000052841	ENST00000418561	.	.	.	5.61	-4.14	0.03892	.	.	.	.	.	T	0.62804	0.2458	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62723	-0.6794	4	.	.	.	-18.3048	13.7921	0.63148	0.0:0.2105:0.0:0.7895	.	.	.	.	M	100	.	.	T	+	2	0	TTC17	43470202	0.326000	0.24669	0.966000	0.40874	0.890000	0.51754	-0.326000	0.07965	-0.705000	0.05035	-0.742000	0.03525	ACG		0.517	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389577.2	NM_018259		14	393	0	0	0	1	0	14	393				
DNAH17	8632	broad.mit.edu	37	17	76471408	76471408	+	Silent	SNP	G	G	A	rs200383975		TCGA-EJ-5506-01A-01D-1576-08	TCGA-EJ-5506-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9	30a0b8d5-11a9-4367-9979-d2c6906f30cc	g.chr17:76471408G>A	ENST00000585328.1	-	54	8572	c.8448C>T	c.(8446-8448)gaC>gaT	p.D2816D	DNAH17_ENST00000389840.5_Silent_p.D2807D|DNAH17_ENST00000586052.1_5'UTR	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	2807	AAA 4. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.D2816D(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TCTGAAACACGTCAAGCCCGC	0.607													G|||	1	0.000199681	0.0	0.0	5008	,	,		19146	0.0		0.001	False		,,,				2504	0.0					ENST00000389840.5																			1	Substitution - coding silent(1)	p.D2816D(1)	prostate(1)	NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(8419-8421)gaC>gaT		dynein, axonemal, heavy chain 17		G		0,4180		0,0,2090	86.0	91.0	89.0		8463	-3.8	1.0	17		89	3,8441		0,3,4219	yes	coding-synonymous	DNAH17	NM_173628.3		0,3,6309	AA,AG,GG		0.0355,0.0,0.0238		2821/4463	76471408	3,12621	2090	4222	6312	SO:0001819	synonymous_variant	8632							g.chr17:76471408G>A	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.8448C>T	17.37:g.76471408G>A						DNAH17_ENST00000585328.1_Silent_p.D2816D|DNAH17_ENST00000586052.1_5'UTR	p.D2807D					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		54	8545	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Silent	SNP	ENST00000585328.1	37	c.8421C>T																																																																																					0.607	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		5	168	0	0	0	1	0	5	168				
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs561841139		TCGA-EJ-5506-01A-01D-1576-08	TCGA-EJ-5506-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9	30a0b8d5-11a9-4367-9979-d2c6906f30cc	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2									p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328																																						ENST00000564580.1																			25	Substitution - Missense(25)	p.W375R(25)	endometrium(19)|kidney(4)|prostate(2)																																																0							g.chr16:29110458T>C			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29110458T>C														0	1131	+									RNA	SNP	ENST00000564580.1	37			.	.	.	.	.	.	.	.	.	.	N	5.632	0.301362	0.10678	.	.	ENSG00000103472	ENST00000427965	.	.	.	1.93	1.93	0.25924	.	0.000000	0.64402	N	0.000001	T	0.11239	0.0274	.	.	.	.	.	.	.	.	.	.	.	.	T	0.29701	-1.0003	5	0.02654	T	1	.	2.7527	0.05285	0.2724:0.5536:0.0:0.174	.	.	.	.	R	375	.	ENSP00000398611:W375R	W	+	1	0	AC009093.1	29017959	1.000000	0.71417	0.564000	0.28396	0.423000	0.31445	3.439000	0.52878	0.163000	0.19507	-1.160000	0.01791	TGG		0.328	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433243.1	NR_003369		6	104	0	0	0	1	0	6	104				
ANKMY2	57037	broad.mit.edu	37	7	16676046	16676046	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5506-01A-01D-1576-08	TCGA-EJ-5506-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9	30a0b8d5-11a9-4367-9979-d2c6906f30cc	g.chr7:16676046G>C	ENST00000306999.2	-	2	345	c.102C>G	c.(100-102)agC>agG	p.S34R	ANKMY2_ENST00000421746.1_5'UTR	NM_020319.2	NP_064715.1	Q8IV38	ANKY2_HUMAN	ankyrin repeat and MYND domain containing 2	34						cilium (GO:0005929)	metal ion binding (GO:0046872)	p.S34R(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	23	Lung NSC(10;0.103)|all_lung(11;0.204)			UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		GAACATTCTTGCTGGATAATA	0.289																																						ENST00000306999.2																			1	Substitution - Missense(1)	p.S34R(1)	prostate(1)	central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	23						c.(100-102)agC>agG		ankyrin repeat and MYND domain containing 2							31.0	30.0	31.0					7																	16676046		2203	4298	6501	SO:0001583	missense	57037					cilium	zinc ion binding	g.chr7:16676046G>C	AK001740	CCDS5361.1	7p21	2013-01-10			ENSG00000106524	ENSG00000106524		"""Zinc fingers, MYND-type"", ""Ankyrin repeat domain containing"""	25370	protein-coding gene	gene with protein product						12477932	Standard	NM_020319		Approved	DKFZP564O043, ZMYND20	uc003sti.3	Q8IV38	OTTHUMG00000090806	ENST00000306999.2:c.102C>G	7.37:g.16676046G>C	ENSP00000303570:p.Ser34Arg						p.S34R	NM_020319.2	NP_064715.1	Q8IV38	ANKY2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)	2	345	-	Lung NSC(10;0.103)|all_lung(11;0.204)		34					A4D124|Q659G1|Q96BL3	Missense_Mutation	SNP	ENST00000306999.2	37	c.102C>G	CCDS5361.1	.	.	.	.	.	.	.	.	.	.	G	14.77	2.635621	0.47049	.	.	ENSG00000106524	ENST00000306999	T	0.36157	1.27	5.4	4.48	0.54585	Ankyrin repeat-containing domain (4);	0.119080	0.85682	D	0.000000	T	0.25306	0.0615	N	0.16478	0.41	0.49798	D	0.999829	P	0.43885	0.82	B	0.42087	0.375	T	0.05869	-1.0859	10	0.62326	D	0.03	-0.1336	10.6641	0.45719	0.1015:0.0:0.8984:0.0	.	34	Q8IV38	ANKY2_HUMAN	R	34	ENSP00000303570:S34R	ENSP00000303570:S34R	S	-	3	2	ANKMY2	16642571	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.609000	0.54117	1.277000	0.44412	0.650000	0.86243	AGC		0.289	ANKMY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207600.2	NM_020319		3	65	0	0	0	1	0	3	65				
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs202189074		TCGA-EJ-5506-01A-01D-1576-08	TCGA-EJ-5506-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9	30a0b8d5-11a9-4367-9979-d2c6906f30cc	g.chr17:43587569G>C	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		aactccgtctgaaaagaaaag	0.443																																						ENST00000253803.2																			0																																																			0							g.chr17:43587569G>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.43587569G>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.443	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		6	115	0	0	0	1	0	6	115				
HCFC2	29915	broad.mit.edu	37	12	104487295	104487295	+	Silent	SNP	T	T	G	rs138874026		TCGA-EJ-5506-01A-01D-1576-08	TCGA-EJ-5506-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9	30a0b8d5-11a9-4367-9979-d2c6906f30cc	g.chr12:104487295T>G	ENST00000229330.4	+	10	1520	c.1416T>G	c.(1414-1416)gcT>gcG	p.A472A	HCFC2_ENST00000550335.1_3'UTR	NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	472					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transcription coactivator activity (GO:0003713)	p.A472A(1)		breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						CATCAAATGCTTCTAATCATA	0.333																																					Esophageal Squamous(184;1814 2036 4771 6974 15702)	ENST00000229330.4																			1	Substitution - coding silent(1)	p.A472A(1)	prostate(1)	breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						c.(1414-1416)gcT>gcG		host cell factor C2							80.0	78.0	79.0					12																	104487295		2203	4299	6502	SO:0001819	synonymous_variant	29915				regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity	g.chr12:104487295T>G	AF117210	CCDS9097.1	12q23.3	2011-03-30			ENSG00000111727	ENSG00000111727			24972	protein-coding gene	gene with protein product		607926				10196288	Standard	NM_013320		Approved	HCF-2	uc001tkj.4	Q9Y5Z7	OTTHUMG00000170175	ENST00000229330.4:c.1416T>G	12.37:g.104487295T>G						HCFC2_ENST00000550335.1_3'UTR	p.A472A	NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN			10	1520	+			472					B2R8Q5|C0H5X3	Silent	SNP	ENST00000229330.4	37	c.1416T>G	CCDS9097.1																																																																																				0.333	HCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407780.1	NM_013320		8	197	0	0	0	1	0	8	197				
SGIP1	84251	broad.mit.edu	37	1	67137639	67137639	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5506-01A-01D-1576-08	TCGA-EJ-5506-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9	30a0b8d5-11a9-4367-9979-d2c6906f30cc	g.chr1:67137639C>A	ENST00000371037.4	+	11	598	c.521C>A	c.(520-522)gCa>gAa	p.A174E	SGIP1_ENST00000371036.3_Missense_Mutation_p.A141E|SGIP1_ENST00000468286.1_3'UTR|AL139147.1_ENST00000502413.2_Intron|SGIP1_ENST00000237247.6_Missense_Mutation_p.A178E|SGIP1_ENST00000371039.1_Missense_Mutation_p.A142E|SGIP1_ENST00000371035.3_Missense_Mutation_p.A131E	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	174					endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)	p.A142E(1)|p.A174E(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						GAAGAAGTGGCAAGACCCAGG	0.378																																						ENST00000371037.4																			2	Substitution - Missense(2)	p.A142E(1)|p.A174E(1)	prostate(2)	breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						c.(520-522)gCa>gAa		SH3-domain GRB2-like (endophilin) interacting protein 1							112.0	108.0	109.0					1																	67137639		2203	4300	6503	SO:0001583	missense	84251				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding	g.chr1:67137639C>A	AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.521C>A	1.37:g.67137639C>A	ENSP00000360076:p.Ala174Glu					SGIP1_ENST00000371035.3_Missense_Mutation_p.A131E|SGIP1_ENST00000371036.3_Missense_Mutation_p.A141E|AL139147.1_ENST00000502413.2_Intron|SGIP1_ENST00000371039.1_Missense_Mutation_p.A142E|SGIP1_ENST00000237247.6_Missense_Mutation_p.A178E|SGIP1_ENST00000468286.1_3'UTR	p.A174E	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN			11	598	+			174					A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Missense_Mutation	SNP	ENST00000371037.4	37	c.521C>A	CCDS30744.1	.	.	.	.	.	.	.	.	.	.	C	19.73	3.881115	0.72294	.	.	ENSG00000118473	ENST00000237247;ENST00000371039;ENST00000424320;ENST00000371035;ENST00000371038;ENST00000407289;ENST00000371036;ENST00000371037	T;T;T;T;T;T	0.03242	4.0;4.0;4.0;4.0;4.0;4.0	5.53	4.62	0.57501	.	0.099543	0.64402	D	0.000002	T	0.02455	0.0075	L	0.49126	1.545	0.44462	D	0.997399	B	0.20550	0.046	B	0.27500	0.08	T	0.36672	-0.9738	10	0.44086	T	0.13	-10.4226	14.4932	0.67665	0.0:0.9292:0.0:0.0708	.	174	Q9BQI5	SGIP1_HUMAN	E	178;142;166;131;177;177;141;174	ENSP00000237247:A178E;ENSP00000360078:A142E;ENSP00000410439:A166E;ENSP00000360074:A131E;ENSP00000360075:A141E;ENSP00000360076:A174E	ENSP00000237247:A178E	A	+	2	0	SGIP1	66910227	1.000000	0.71417	0.989000	0.46669	0.998000	0.95712	4.571000	0.60879	1.336000	0.45506	0.563000	0.77884	GCA		0.378	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025395.4	NM_032291		3	77	1	0	1	1	1	3	77				
LOC100129620	100129620	broad.mit.edu	37	1	99474094	99474094	+	RNA	DEL	A	A	-	rs531849287|rs57656522	byFrequency	TCGA-EJ-5506-01A-01D-1576-08	TCGA-EJ-5506-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9	30a0b8d5-11a9-4367-9979-d2c6906f30cc	g.chr1:99474094delA	ENST00000425113.1	+	0	370					NR_033940.1																						AACAGCAACTAAAAAAAAAAA	0.353													|||unknown(HR)	1745	0.348442	0.32	0.3112	5008	,	,		17655	0.4415		0.3608	False		,,,				2504	0.3047					ENST00000425113.1																			0																																																			0							g.chr1:99474094delA																													1.37:g.99474094delA								NR_033940.1						0	370	+									RNA	DEL	ENST00000425113.1	37																																																																																						0.353	RP5-896L10.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000029675.2			2	4						2	4	---	---	---	---
TRGC2	6967	broad.mit.edu	37	7	38284515	38284520	+	RNA	DEL	GAAAAG	GAAAAG	-	rs144453547		TCGA-EJ-5506-01A-01D-1576-08	TCGA-EJ-5506-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9	30a0b8d5-11a9-4367-9979-d2c6906f30cc	g.chr7:38284515_38284520delGAAAAG	ENST00000436911.2	-	0	378							P03986	TRGC2_HUMAN	T cell receptor gamma constant 2						immune response (GO:0006955)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)										agaaaaaaaagaaaagaaaaaaGACA	0.408																																						ENST00000436911.2																			0																																																			0							g.chr7:38284515_38284520delGAAAAG	M15002		7p14	2012-02-07			ENSG00000227191	ENSG00000227191		"""T cell receptors / TRG locus"""	12276	other	T cell receptor gene	"""T-cell receptor, gamma, constant region C2"""	615450		TCRGC2		3458221	Standard	NG_001336		Approved	TRGC2(2X), TRGC2(3X)		P03986	OTTHUMG00000155215		7.37:g.38284515_38284520delGAAAAG														0	378	-									RNA	DEL	ENST00000436911.2	37																																																																																						0.408	TRGC2-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene	OTTHUMT00000338821.2	NG_001336		2	4						2	4	---	---	---	---
STAG3L4	64940	broad.mit.edu	37	7	66772495	66772495	+	RNA	DEL	T	T	-			TCGA-EJ-5506-01A-01D-1576-08	TCGA-EJ-5506-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9	30a0b8d5-11a9-4367-9979-d2c6906f30cc	g.chr7:66772495delT	ENST00000416602.2	+	0	362					NR_040586.1		Q8TBR4	ST3L4_HUMAN	stromal antigen 3-like 4 (pseudogene)											endometrium(2)|lung(5)	7		Lung NSC(55;0.0839)|all_lung(88;0.181)				GCTTGATTCCTTTTTTTTTTT	0.423																																						ENST00000416602.2																			0				endometrium(2)|lung(5)	7																																														0							g.chr7:66772495delT			7q11.21	2013-06-26	2013-06-26		ENSG00000106610	ENSG00000106610			33887	pseudogene	pseudogene			"""stromal antigen 3-like 4"""				Standard	NR_040585		Approved	FLJ13195, STAG3L4P	uc010laj.3	Q8TBR4	OTTHUMG00000156920		7.37:g.66772495delT								NR_040586.1		Q8TBR4	STG34_HUMAN			0	362	+		Lung NSC(55;0.0839)|all_lung(88;0.181)						Q9H8W0	RNA	DEL	ENST00000416602.2	37																																																																																						0.423	STAG3L4-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000346611.1	NM_022906		2	4						2	4	---	---	---	---
LTN1	26046	broad.mit.edu	37	21	30339206	30339206	+	Frame_Shift_Del	DEL	T	T	-	rs560176639	byFrequency	TCGA-EJ-5506-01A-01D-1576-08	TCGA-EJ-5506-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9	30a0b8d5-11a9-4367-9979-d2c6906f30cc	g.chr21:30339206delT	ENST00000361371.5	-	10	1686	c.1607delA	c.(1606-1608)aatfs	p.N536fs	LTN1_ENST00000389194.2_Frame_Shift_Del_p.N582fs|LTN1_ENST00000389195.2_Frame_Shift_Del_p.N582fs			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	536					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.N536fs*33(1)		NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						AACCTTACCATTTTTTTTTTT	0.378													|||unknown(HR)	455	0.0908546	0.1248	0.0461	5008	,	,		18798	0.0714		0.0586	False		,,,				2504	0.1299					ENST00000361371.4																			1	Deletion - Frameshift(1)	p.N536fs*33(1)	ovary(1)	NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						c.(1606-1608)atfs		listerin E3 ubiquitin protein ligase 1							50.0	47.0	48.0					21																	30339206		2203	4300	6503	SO:0001589	frameshift_variant	26046						ligase activity|zinc ion binding	g.chr21:30339206delT	AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"""RING-type (C3HC4) zinc fingers"""	13082	protein-coding gene	gene with protein product	"""listerin"""	613083	"""chromosome 21 open reading frame 98"", ""zinc finger protein 294"", ""ring finger protein 160"""	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.1607delA	21.37:g.30339206delT	ENSP00000354977:p.Asn536fs					LTN1_ENST00000389194.2_Frame_Shift_Del_p.N582fs|LTN1_ENST00000389195.2_Frame_Shift_Del_p.N582fs	p.N536fs	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN			10	1757	-			536					A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Frame_Shift_Del	DEL	ENST00000361371.5	37	c.1607delA																																																																																					0.378	LTN1-008	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000472108.1	NM_015565		12	132						12	132	---	---	---	---
