#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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
SYNC	81493	broad.mit.edu	37	1	33149862	33149862	+	Missense_Mutation	SNP	T	T	C	rs201938976	byFrequency	TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr1:33149862T>C	ENST00000409190.3	-	3	1813	c.1355A>G	c.(1354-1356)tAt>tGt	p.Y452C	SYNC_ENST00000373484.3_Missense_Mutation_p.Y452C|RBBP4_ENST00000373493.5_3'UTR	NM_030786.2	NP_110413	Q9H7C4	SYNCI_HUMAN	syncoilin, intermediate filament protein	452	Coil 2.				intermediate filament-based process (GO:0045103)	cytosol (GO:0005829)|intermediate filament (GO:0005882)|neuromuscular junction (GO:0031594)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	structural molecule activity (GO:0005198)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						AACTGACTTATAAGTAGAGAG	0.433													T|||	4	0.000798722	0.003	0.0	5008	,	,		18566	0.0		0.0	False		,,,				2504	0.0					ENST00000373484.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1354-1356)tAt>tGt		syncoilin, intermediate filament protein							263.0	266.0	265.0					1																	33149862		2203	4300	6503	SO:0001583	missense	81493					intermediate filament|perinuclear region of cytoplasm	structural molecule activity	g.chr1:33149862T>C	AK024707	CCDS367.2, CCDS53294.1	1p35.1	2013-01-16	2008-09-19	2008-09-19	ENSG00000162520	ENSG00000162520		"""Intermediate filaments type III"""	28897	protein-coding gene	gene with protein product		611750	"""syncoilin, intermediate filament 1"""	SYNC1		11053421	Standard	NM_030786		Approved	SYNCOILIN	uc001bvt.2	Q9H7C4	OTTHUMG00000008087	ENST00000409190.3:c.1355A>G	1.37:g.33149862T>C	ENSP00000386439:p.Tyr452Cys					RBBP4_ENST00000373493.5_3'UTR|SYNC_ENST00000409190.3_Missense_Mutation_p.Y452C	p.Y452C	NM_001161708.1	NP_001155180	Q9H7C4	SYNCI_HUMAN			3	1454	-			452			Coil 2.		B4DNK8|B4DY58|C9IY41	Missense_Mutation	SNP	ENST00000409190.3	37	c.1355A>G	CCDS367.2	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	T	18.01	3.528145	0.64860	.	.	ENSG00000162520	ENST00000373484;ENST00000409190	D;D	0.97186	-4.28;-4.28	5.71	4.57	0.56435	Filament (1);	0.167577	0.40469	N	0.001087	D	0.96374	0.8817	N	0.19112	0.55	0.47037	D	0.999297	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.96484	0.9358	10	0.87932	D	0	.	11.4698	0.50261	0.1418:0.0:0.0:0.8582	.	452;452	Q9H7C4-2;Q9H7C4	.;SYNCI_HUMAN	C	452	ENSP00000362583:Y452C;ENSP00000386439:Y452C	ENSP00000362583:Y452C	Y	-	2	0	SYNC	32922449	1.000000	0.71417	0.861000	0.33841	0.899000	0.52679	2.770000	0.47662	1.079000	0.41038	0.459000	0.35465	TAT		0.433	SYNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022129.3	NM_030786		133	186	133	186	---	---	---	---
HCN3	57657	broad.mit.edu	37	1	155255754	155255754	+	Splice_Site	SNP	G	G	T			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr1:155255754G>T	ENST00000368358.3	+	6	1484	c.1476G>T	c.(1474-1476)ggG>ggT	p.G492G	HCN3_ENST00000496230.1_3'UTR	NM_020897.2	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	492					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCTACTTTGGGGGTCAGCAGG	0.647																																						ENST00000368358.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1474-1476)ggG>ggT		hyperpolarization activated cyclic nucleotide-gated potassium channel 3							59.0	66.0	64.0					1																	155255754		2203	4300	6503	SO:0001630	splice_region_variant	57657					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr1:155255754G>T	AB040968	CCDS1108.1	1q21.2	2011-07-05			ENSG00000143630	ENSG00000143630		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	19183	protein-coding gene	gene with protein product		609973				16382102	Standard	NM_020897		Approved	KIAA1535	uc001fjz.2	Q9P1Z3	OTTHUMG00000035872	ENST00000368358.3:c.1477+1G>T	1.37:g.155255754G>T						HCN3_ENST00000496230.1_3'UTR	p.G492G	NM_020897.2	NP_065948.1	Q9P1Z3	HCN3_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		6	1484	+	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		492					D3DV90|Q4VX12|Q8N6W6|Q9BWQ2	Splice_Site	SNP	ENST00000368358.3	37	c.1476G>T	CCDS1108.1																																																																																				0.647	HCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087388.1	NM_020897	Silent	54	114	54	114	---	---	---	---
CCDC74B	91409	broad.mit.edu	37	2	130902456	130902456	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr2:130902456G>C	ENST00000310463.6	-	1	251	c.114C>G	c.(112-114)agC>agG	p.S38R	CCDC74B_ENST00000409234.3_Missense_Mutation_p.S38R|CCDC74B_ENST00000409128.1_Missense_Mutation_p.S38R|CCDC74B_ENST00000392984.3_5'UTR|CCDC74B_ENST00000409943.3_Missense_Mutation_p.S38R	NM_207310.2	NP_997193.1	Q96LY2	CC74B_HUMAN	coiled-coil domain containing 74B	38										endometrium(2)|large_intestine(1)|lung(3)	6	Colorectal(110;0.1)					TGAGCTGCGGGCTCTGCGGCC	0.716																																						ENST00000310463.6																			0				endometrium(2)|large_intestine(1)|lung(3)	6						c.(112-114)agC>agG		coiled-coil domain containing 74B							23.0	24.0	23.0					2																	130902456		2197	4296	6493	SO:0001583	missense	91409							g.chr2:130902456G>C		CCDS2155.1, CCDS58726.1	2q21.1	2006-11-29		2006-02-16	ENSG00000152076	ENSG00000152076			25267	protein-coding gene	gene with protein product							Standard	NM_001258307		Approved	DKFZp434E2321	uc002tqn.2	Q96LY2	OTTHUMG00000131629	ENST00000310463.6:c.114C>G	2.37:g.130902456G>C	ENSP00000308873:p.Ser38Arg					CCDC74B_ENST00000409128.1_Missense_Mutation_p.S38R|CCDC74B_ENST00000409943.3_Missense_Mutation_p.S38R|CCDC74B_ENST00000392984.3_5'UTR|CCDC74B_ENST00000409234.3_Missense_Mutation_p.S38R	p.S38R	NM_207310.2	NP_997193.1	Q96LY2	CC74B_HUMAN			1	251	-	Colorectal(110;0.1)		38					Q6NW18	Missense_Mutation	SNP	ENST00000310463.6	37	c.114C>G	CCDS2155.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	13.34|13.34	2.206925|2.206925	0.39003|0.39003	.|.	.|.	ENSG00000152076|ENSG00000152076	ENST00000457413|ENST00000409943;ENST00000310463;ENST00000409488;ENST00000409128;ENST00000418636;ENST00000409234;ENST00000441670	.|T;T;T	.|0.46451	.|1.88;1.87;0.87	2.59|2.59	-0.048|-0.048	0.13840|0.13840	.|.	.|.	.|.	.|.	.|.	T|T	0.38268|0.38268	0.1034|0.1034	N|N	0.22421|0.22421	0.69|0.69	0.20307|0.20307	N|N	0.999915|0.999915	.|D;P;P	.|0.59767	.|0.986;0.531;0.523	.|P;B;B	.|0.53912	.|0.737;0.189;0.381	T|T	0.31998|0.31998	-0.9923|-0.9923	5|9	.|0.54805	.|T	.|0.06	.|.	9.3734|9.3734	0.38268|0.38268	0.0:0.6314:0.3686:0.0|0.0:0.6314:0.3686:0.0	.|.	.|38;38;38	.|E9PG54;Q96LY2-2;Q96LY2	.|.;.;CC74B_HUMAN	A|R	38|38	.|ENSP00000386294:S38R;ENSP00000308873:S38R;ENSP00000386644:S38R	.|ENSP00000308873:S38R	P|S	-|-	1|3	0|2	CCDC74B|CCDC74B	130618926|130618926	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.083000|0.083000	0.17756|0.17756	0.036000|0.036000	0.13819|0.13819	-0.207000|-0.207000	0.10187|0.10187	0.291000|0.291000	0.19559|0.19559	CCC|AGC		0.716	CCDC74B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254522.3	NM_207310		17	24	17	24	---	---	---	---
HOXD10	3236	broad.mit.edu	37	2	176981857	176981857	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr2:176981857C>T	ENST00000249501.4	+	1	551	c.296C>T	c.(295-297)cCc>cTc	p.P99L	HOXD10_ENST00000490088.2_Intron	NM_002148.3	NP_002139.2	P28358	HXD10_HUMAN	homeobox D10	99					adult locomotory behavior (GO:0008344)|anterior/posterior pattern specification (GO:0009952)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|neuromuscular process (GO:0050905)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal muscle tissue development (GO:0007519)|spinal cord motor neuron cell fate specification (GO:0021520)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		CAGCAAGTCCCCACTTGCTCC	0.448																																						ENST00000249501.4																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17						c.(295-297)cCc>cTc		homeobox D10							112.0	114.0	113.0					2																	176981857		2203	4300	6503	SO:0001583	missense	3236					nucleus	sequence-specific DNA binding	g.chr2:176981857C>T		CCDS2266.1	2q31.1	2014-09-17	2005-12-22		ENSG00000128710	ENSG00000128710		"""Homeoboxes / ANTP class : HOXL subclass"""	5133	protein-coding gene	gene with protein product		142984	"""homeo box D10"""	HOX4, HOX4D		1973146, 1358459	Standard	NM_002148		Approved		uc002ukj.3	P28358	OTTHUMG00000132511	ENST00000249501.4:c.296C>T	2.37:g.176981857C>T	ENSP00000249501:p.Pro99Leu					HOXD10_ENST00000490088.2_Intron	p.P99L	NM_002148.3	NP_002139.2	P28358	HXD10_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)	1	551	+			99					Q6NT10	Missense_Mutation	SNP	ENST00000249501.4	37	c.296C>T	CCDS2266.1	.	.	.	.	.	.	.	.	.	.	C	15.30	2.793911	0.50102	.	.	ENSG00000128710	ENST00000249501	T	0.37915	1.17	5.73	5.73	0.89815	.	0.103857	0.64402	D	0.000002	T	0.45538	0.1347	M	0.84846	2.72	0.80722	D	1	P	0.39022	0.655	B	0.32533	0.147	T	0.55029	-0.8204	10	0.52906	T	0.07	.	19.4898	0.95046	0.0:1.0:0.0:0.0	.	99	P28358	HXD10_HUMAN	L	99	ENSP00000249501:P99L	ENSP00000249501:P99L	P	+	2	0	HOXD10	176690103	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.699000	0.92147	0.655000	0.94253	CCC		0.448	HOXD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255692.2			36	65	36	65	---	---	---	---
ANO10	55129	broad.mit.edu	37	3	43618225	43618225	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr3:43618225T>C	ENST00000292246.3	-	6	1291	c.1121A>G	c.(1120-1122)aAt>aGt	p.N374S	ANO10_ENST00000350459.4_Intron|ANO10_ENST00000451430.2_Missense_Mutation_p.N263S|ANO10_ENST00000414522.2_Missense_Mutation_p.N374S|ANO10_ENST00000396091.3_Missense_Mutation_p.N308S	NM_018075.3	NP_060545.3	Q9NW15	ANO10_HUMAN	anoctamin 10	374					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell death (GO:0008219)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						ATAGAGACGATTCATGATCTC	0.453																																						ENST00000292246.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						c.(1120-1122)aAt>aGt		anoctamin 10							72.0	62.0	65.0					3																	43618225		2203	4300	6503	SO:0001583	missense	55129				cell death	chloride channel complex	chloride channel activity	g.chr3:43618225T>C	AL832508	CCDS2710.2, CCDS56247.1, CCDS56248.1, CCDS56249.1, CCDS56250.1	3p22.1-p21.33	2014-04-09	2008-08-28	2008-08-28	ENSG00000160746	ENSG00000160746		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	25519	protein-coding gene	gene with protein product		613726	"""transmembrane protein 16K"""	TMEM16K		12477932, 24692353	Standard	NM_001204831		Approved	FLJ10375, MGC47890, SCAR10	uc003cmv.3	Q9NW15	OTTHUMG00000133044	ENST00000292246.3:c.1121A>G	3.37:g.43618225T>C	ENSP00000292246:p.Asn374Ser					ANO10_ENST00000414522.2_Missense_Mutation_p.N374S|ANO10_ENST00000451430.2_Missense_Mutation_p.N263S|ANO10_ENST00000396091.3_Missense_Mutation_p.N308S|ANO10_ENST00000350459.4_Intron	p.N374S	NM_018075.3	NP_060545.3	Q9NW15	ANO10_HUMAN			6	1291	-			374					A8K8K3|A8MV74|B3KTZ1|B3KY93|B4DJ83|B4DNK2|B7WP12|C9JHS1|Q8IXX9	Missense_Mutation	SNP	ENST00000292246.3	37	c.1121A>G	CCDS2710.2	.	.	.	.	.	.	.	.	.	.	T	20.5	4.007962	0.75046	.	.	ENSG00000160746	ENST00000292246;ENST00000396091;ENST00000414522;ENST00000451430	T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.68705	0.3030	L	0.49699	1.58	0.58432	D	0.999996	P;P;B;P	0.40083	0.702;0.623;0.383;0.623	P;P;B;P	0.52646	0.551;0.587;0.321;0.705	T	0.62964	-0.6742	10	0.18710	T	0.47	.	16.2127	0.82178	0.0:0.0:0.0:1.0	.	263;374;308;374	Q9NW15-4;C9JHS1;Q9NW15-3;Q9NW15	.;.;.;ANO10_HUMAN	S	374;308;374;263	ENSP00000292246:N374S;ENSP00000379398:N308S;ENSP00000396990:N374S;ENSP00000394119:N263S	ENSP00000292246:N374S	N	-	2	0	ANO10	43593229	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.015000	0.88690	2.236000	0.73375	0.533000	0.62120	AAT		0.453	ANO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256649.2	NM_018075		18	34	18	34	---	---	---	---
FYCO1	79443	broad.mit.edu	37	3	46021201	46021201	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr3:46021201G>A	ENST00000296137.2	-	4	489	c.284C>T	c.(283-285)tCa>tTa	p.S95L	FYCO1_ENST00000535325.1_Missense_Mutation_p.S95L	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	95	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.				plus-end-directed vesicle transport along microtubule (GO:0072383)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		GCTTACCTCTGAGATAGACTT	0.498																																						ENST00000296137.2																			0				NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54						c.(283-285)tCa>tTa		FYVE and coiled-coil domain containing 1							190.0	163.0	172.0					3																	46021201		2203	4300	6503	SO:0001583	missense	79443				transport	integral to membrane	metal ion binding|protein binding	g.chr3:46021201G>A	AJ292348	CCDS2734.1	3p21.3	2008-02-05			ENSG00000163820	ENSG00000163820		"""Zinc fingers, FYVE domain containing"""	14673	protein-coding gene	gene with protein product		607182				11896456	Standard	NM_024513		Approved	FLJ13335, ZFYVE7	uc003cpb.5	Q9BQS8	OTTHUMG00000133447	ENST00000296137.2:c.284C>T	3.37:g.46021201G>A	ENSP00000296137:p.Ser95Leu					FYCO1_ENST00000535325.1_Missense_Mutation_p.S95L	p.S95L	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)	4	489	-			95			RUN.		B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Missense_Mutation	SNP	ENST00000296137.2	37	c.284C>T	CCDS2734.1	.	.	.	.	.	.	.	.	.	.	G	15.83	2.948924	0.53186	.	.	ENSG00000163820	ENST00000296137;ENST00000535325	T;T	0.12774	2.65;2.65	5.36	4.49	0.54785	RUN (2);	0.429079	0.22706	N	0.056633	T	0.18635	0.0447	N	0.22421	0.69	0.33583	D	0.600149	D;P	0.59767	0.986;0.772	P;P	0.57204	0.815;0.609	T	0.19976	-1.0289	10	0.54805	T	0.06	-1.9519	12.6484	0.56748	0.0771:0.0:0.9229:0.0	.	95;95	B7ZKT7;Q9BQS8	.;FYCO1_HUMAN	L	95	ENSP00000296137:S95L;ENSP00000441178:S95L	ENSP00000296137:S95L	S	-	2	0	FYCO1	45996205	1.000000	0.71417	0.042000	0.18584	0.235000	0.25334	6.366000	0.73095	1.275000	0.44379	-0.347000	0.07816	TCA		0.498	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257320.2	NM_024513		38	89	38	89	---	---	---	---
OR5H6	79295	broad.mit.edu	37	3	97984008	97984008	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr3:97984008T>C	ENST00000383696.2	+	1	921	c.880T>C	c.(880-882)Tac>Cac	p.Y294H	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	294						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						GTCTCTATTTTACACTGTCAT	0.378																																						ENST00000383696.2																			0				cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						c.(880-882)Tac>Cac		olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)							65.0	63.0	64.0					3																	97984008		2203	4300	6503	SO:0001583	missense	79295				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97984008T>C	BK004374	CCDS33800.1	3q12.1	2013-10-10	2013-10-10		ENSG00000230301	ENSG00000230301		"""GPCR / Class A : Olfactory receptors"""	14767	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily H, member 6"""				Standard	NM_001005479		Approved		uc003dsi.1	Q8NGV6	OTTHUMG00000160078	ENST00000383696.2:c.880T>C	3.37:g.97984008T>C	ENSP00000373196:p.Tyr294His					RP11-325B23.2_ENST00000508616.1_lincRNA	p.Y294H	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN			1	921	+			294					Q6IF88	Missense_Mutation	SNP	ENST00000383696.2	37	c.880T>C	CCDS33800.1	.	.	.	.	.	.	.	.	.	.	-	16.07	3.019799	0.54576	.	.	ENSG00000230301	ENST00000383696	T	0.00321	8.11	2.19	2.19	0.27852	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42821	D	0.000649	T	0.00754	0.0025	M	0.92367	3.3	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.24905	-1.0147	10	0.87932	D	0	.	7.9658	0.30098	0.0:0.0:0.0:1.0	.	294	Q8NGV6	OR5H6_HUMAN	H	294	ENSP00000373196:Y294H	ENSP00000373196:Y294H	Y	+	1	0	OR5H6	99466698	0.457000	0.25752	0.953000	0.39169	0.582000	0.36321	1.817000	0.39002	1.006000	0.39211	0.163000	0.16589	TAC		0.378	OR5H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359111.2			16	35	16	35	---	---	---	---
CD86	942	broad.mit.edu	37	3	121828209	121828209	+	Silent	SNP	A	A	T			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr3:121828209A>T	ENST00000330540.2	+	5	917	c.801A>T	c.(799-801)ctA>ctT	p.L267L	CD86_ENST00000393627.2_Silent_p.L261L|CD86_ENST00000493101.1_Silent_p.L155L|CD86_ENST00000469710.1_Silent_p.L185L|CD86_ENST00000264468.5_Silent_p.L54L	NM_175862.4	NP_787058	P42081	CD86_HUMAN	CD86 molecule	267					aging (GO:0007568)|B cell activation (GO:0042113)|cell-cell signaling (GO:0007267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to metal ion (GO:0071248)|defense response to virus (GO:0051607)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|immune response (GO:0006955)|innate immune response (GO:0045087)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of T cell anergy (GO:0002668)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of lymphotoxin A biosynthetic process (GO:0043017)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|response to interferon-gamma (GO:0034341)|response to yeast (GO:0001878)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell proliferation involved in immune response (GO:0002309)|toll-like receptor signaling pathway (GO:0002224)|viral process (GO:0016032)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)|receptor activity (GO:0004872)			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)|Antithymocyte globulin(DB00098)|Belatacept(DB06681)	GTCTAATTCTATGGAAATGGA	0.458																																					GBM(67;1379 1389 36064 39806)	ENST00000330540.2																			0				breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23						c.(799-801)ctA>ctT		CD86 molecule	Abatacept(DB01281)						145.0	143.0	144.0					3																	121828209		2203	4300	6503	SO:0001819	synonymous_variant	942				interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding	g.chr3:121828209A>T		CCDS3009.1, CCDS43138.1, CCDS56272.1, CCDS56273.1, CCDS74991.1	3q21	2013-01-29	2006-03-28		ENSG00000114013	ENSG00000114013		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1705	protein-coding gene	gene with protein product	"""B-lymphocyte antigen B7-2"""	601020	"""CD86 antigen (CD28 antigen ligand 2, B7-2 antigen)"""	CD28LG2		7513726	Standard	NM_006889		Approved	B7.2, B7-2	uc003eet.3	P42081	OTTHUMG00000159482	ENST00000330540.2:c.801A>T	3.37:g.121828209A>T						CD86_ENST00000493101.1_Silent_p.L155L|CD86_ENST00000469710.1_Silent_p.L185L|CD86_ENST00000393627.2_Silent_p.L261L|CD86_ENST00000264468.5_Silent_p.L54L	p.L267L	NM_175862.4	NP_787058	P42081	CD86_HUMAN		GBM - Glioblastoma multiforme(114;0.156)	5	917	+			267					A0N0P0|B7Z2F3|B7Z702|E7ETN5|E9PC27|Q13655|Q6FHB1|Q6GTS4|Q7M4L5	Silent	SNP	ENST00000330540.2	37	c.801A>T	CCDS3009.1																																																																																				0.458	CD86-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000355671.1	NM_006889		51	92	51	92	---	---	---	---
PIK3CA	5290	broad.mit.edu	37	3	178921553	178921553	+	Missense_Mutation	SNP	T	T	A	rs121913284		TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr3:178921553T>A	ENST00000263967.3	+	5	1192	c.1035T>A	c.(1033-1035)aaT>aaA	p.N345K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	345	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.N345K(44)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	CCTACGTGAATGTAAATATTC	0.308		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		44	Substitution - Missense(44)	p.N345K(44)	breast(27)|endometrium(6)|large_intestine(6)|central_nervous_system(5)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(1033-1035)aaT>aaA		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							67.0	66.0	66.0					3																	178921553		1807	4074	5881	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178921553T>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1035T>A	3.37:g.178921553T>A	ENSP00000263967:p.Asn345Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.N345K	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		5	1192	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		345					Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1035T>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	T	16.01	3.002090	0.54254	.	.	ENSG00000121879	ENST00000263967	T	0.70164	-0.46	5.41	3.03	0.35002	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (1);	0.000000	0.85682	D	0.000000	T	0.77745	0.4176	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.75465	-0.3308	10	0.49607	T	0.09	-21.0442	9.7159	0.40274	0.0:0.1415:0.0:0.8585	.	345	P42336	PK3CA_HUMAN	K	345	ENSP00000263967:N345K	ENSP00000263967:N345K	N	+	3	2	PIK3CA	180404247	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.030000	0.41108	0.441000	0.26529	0.402000	0.26972	AAT		0.308	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			6	62	6	62	---	---	---	---
SLC26A1	10861	broad.mit.edu	37	4	985025	985025	+	Missense_Mutation	SNP	C	C	T	rs377629899		TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr4:985025C>T	ENST00000361661.2	-	3	844	c.467G>A	c.(466-468)gGa>gAa	p.G156E	SLC26A1_ENST00000398516.2_Missense_Mutation_p.G156E|SLC26A1_ENST00000398520.2_Missense_Mutation_p.G156E|IDUA_ENST00000453894.1_Intron|SLC26A1_ENST00000513138.1_5'Flank|IDUA_ENST00000247933.4_Intron	NM_213613.2	NP_998778.1	Q9H2B4	S26A1_HUMAN	solute carrier family 26 (anion exchanger), member 1	156					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|chloride transport (GO:0006821)|glycosaminoglycan metabolic process (GO:0030203)|ion transport (GO:0006811)|oxalate transport (GO:0019532)|small molecule metabolic process (GO:0044281)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|chloride transmembrane transporter activity (GO:0015108)|oxalate transmembrane transporter activity (GO:0019531)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(1)|endometrium(4)|pancreas(1)|prostate(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GCTGTTGGCTCCGGGCTGCAG	0.687																																						ENST00000361661.2																			0				central_nervous_system(1)|endometrium(4)|pancreas(1)|prostate(1)|skin(1)	8						c.(466-468)gGa>gAa		solute carrier family 26 (anion exchanger), member 1		C	,GLU/GLY,GLU/GLY,GLU/GLY	1,4399		0,1,2199	33.0	35.0	34.0		,467,467,467	-1.4	0.0	4		34	0,8590		0,0,4295	no	intron,missense,missense,missense	IDUA,SLC26A1	NM_000203.3,NM_022042.2,NM_134425.1,NM_213613.2	,98,98,98	0,1,6494	TT,TC,CC		0.0,0.0227,0.0077	,benign,benign,benign	,156/702,156/225,156/702	985025	1,12989	2200	4295	6495	SO:0001583	missense	10861					integral to membrane|plasma membrane	secondary active sulfate transmembrane transporter activity	g.chr4:985025C>T	AF297659	CCDS33933.1, CCDS33934.1	4p16.3	2013-07-18	2013-07-18		ENSG00000145217	ENSG00000145217		"""Solute carriers"""	10993	protein-coding gene	gene with protein product		610130	"""solute carrier family 26 (sulfate transporter), member 1"""				Standard	NM_213613		Approved	SAT-1, EDM4	uc003gcc.3	Q9H2B4	OTTHUMG00000160003	ENST00000361661.2:c.467G>A	4.37:g.985025C>T	ENSP00000354721:p.Gly156Glu					SLC26A1_ENST00000398520.2_Missense_Mutation_p.G156E|SLC26A1_ENST00000398516.2_Missense_Mutation_p.G156E|IDUA_ENST00000453894.1_Intron|IDUA_ENST00000247933.4_Intron	p.G156E	NM_213613.2	NP_998778.1	Q9H2B4	S26A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		3	844	-			156					A8K9N2|Q7Z5R3|Q96BK0	Missense_Mutation	SNP	ENST00000361661.2	37	c.467G>A	CCDS33934.1	.	.	.	.	.	.	.	.	.	.	C	13.68	2.309454	0.40895	2.27E-4	0.0	ENSG00000145217	ENST00000398520;ENST00000361661;ENST00000398516	D;D;D	0.93426	-3.05;-3.22;-3.22	5.44	-1.42	0.08913	.	1.192680	0.05865	N	0.623684	T	0.81039	0.4740	N	0.03608	-0.345	0.09310	N	1	B;B	0.29936	0.002;0.262	B;B	0.26202	0.007;0.067	T	0.72623	-0.4237	10	0.34782	T	0.22	.	4.5599	0.12154	0.1158:0.2814:0.4546:0.1482	.	156;156	Q9H2B4;Q96BK0	S26A1_HUMAN;.	E	156	ENSP00000381532:G156E;ENSP00000354721:G156E;ENSP00000381528:G156E	ENSP00000354721:G156E	G	-	2	0	SLC26A1	975025	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.496000	0.06436	-0.031000	0.13781	0.462000	0.41574	GGA		0.687	SLC26A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358783.1	NM_022042, NM_134425		23	32	23	32	---	---	---	---
GRIA1	2890	broad.mit.edu	37	5	153144140	153144140	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr5:153144140C>A	ENST00000285900.5	+	12	2313	c.1970C>A	c.(1969-1971)aCa>aAa	p.T657K	GRIA1_ENST00000518142.1_Missense_Mutation_p.T577K|GRIA1_ENST00000521843.2_Missense_Mutation_p.T588K|GRIA1_ENST00000518783.1_Missense_Mutation_p.T667K|GRIA1_ENST00000448073.4_Missense_Mutation_p.T667K|GRIA1_ENST00000340592.5_Missense_Mutation_p.T657K	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	657					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	GCGAAGCAGACAGAAATTGCC	0.502																																						ENST00000285900.5																			0				NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81						c.(1969-1971)aCa>aAa		glutamate receptor, ionotropic, AMPA 1	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						115.0	95.0	102.0					5																	153144140		2203	4300	6503	SO:0001583	missense	2890				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	g.chr5:153144140C>A		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.1970C>A	5.37:g.153144140C>A	ENSP00000285900:p.Thr657Lys					GRIA1_ENST00000340592.5_Missense_Mutation_p.T657K|GRIA1_ENST00000518783.1_Missense_Mutation_p.T667K|GRIA1_ENST00000518142.1_Missense_Mutation_p.T577K|GRIA1_ENST00000521843.2_Missense_Mutation_p.T588K|GRIA1_ENST00000448073.4_Missense_Mutation_p.T667K	p.T657K	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		12	2313	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	657					B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	ENST00000285900.5	37	c.1970C>A	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.018311	0.93404	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000537037;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	T;T;T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08;1.08;1.08	5.27	5.27	0.74061	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.63698	0.2533	M	0.62016	1.91	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.964;1.0;1.0	D;D;P;D;D	0.91635	0.999;0.999;0.769;0.998;0.987	T	0.66618	-0.5878	10	0.87932	D	0	.	17.8573	0.88769	0.0:1.0:0.0:0.0	.	667;667;577;657;657	E7ESV8;B7Z9G9;B7Z3F6;P42261-2;P42261	.;.;.;.;GRIA1_HUMAN	K	657;657;577;611;657;590;588;667;667	ENSP00000285900:T657K;ENSP00000427920:T577K;ENSP00000339343:T657K;ENSP00000427864:T590K;ENSP00000442108:T588K;ENSP00000428994:T667K;ENSP00000415569:T667K	ENSP00000285900:T657K	T	+	2	0	GRIA1	153124333	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	7.642000	0.83385	2.447000	0.82792	0.561000	0.74099	ACA		0.502	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			13	39	13	39	---	---	---	---
EHD1	10938	broad.mit.edu	37	11	64622147	64622147	+	Silent	SNP	C	C	T			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr11:64622147C>T	ENST00000320631.3	-	5	1517	c.1263G>A	c.(1261-1263)ccG>ccA	p.P421P	EHD1_ENST00000488711.1_5'UTR|EHD1_ENST00000359393.2_Silent_p.P421P	NM_001282445.1|NM_006795.2	NP_001269374.1|NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	421					blood coagulation (GO:0007596)|cellular response to nerve growth factor stimulus (GO:1990090)|cholesterol homeostasis (GO:0042632)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|low-density lipoprotein particle clearance (GO:0034383)|neuron projection development (GO:0031175)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein homooligomerization (GO:0051260)	early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lipid particle (GO:0005811)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						CGTGCCCGAACGGCCCGTTCA	0.667																																						ENST00000320631.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						c.(1261-1263)ccG>ccA		EH-domain containing 1							116.0	106.0	109.0					11																	64622147		2201	4296	6497	SO:0001819	synonymous_variant	10938				blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization	early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|protein binding	g.chr11:64622147C>T	AF099011	CCDS8084.1, CCDS73315.1	11q13	2013-01-10			ENSG00000110047	ENSG00000110047		"""EF-hand domain containing"""	3242	protein-coding gene	gene with protein product	"""testilin"""	605888		PAST1		10395801, 10673336	Standard	NM_001282444		Approved	H-PAST, HPAST1, FLJ42622, FLJ44618	uc001obu.1	Q9H4M9	OTTHUMG00000066832	ENST00000320631.3:c.1263G>A	11.37:g.64622147C>T						EHD1_ENST00000488711.1_5'UTR|EHD1_ENST00000359393.2_Silent_p.P421P	p.P421P	NM_001282445.1|NM_006795.2	NP_001269374.1|NP_006786.2	Q9H4M9	EHD1_HUMAN			5	1517	-			421					O14611|Q2M3Q4|Q9UNR3	Silent	SNP	ENST00000320631.3	37	c.1263G>A	CCDS8084.1																																																																																				0.667	EHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143229.2	NM_006795		13	147	13	147	---	---	---	---
MYO7A	4647	broad.mit.edu	37	11	76893185	76893185	+	Silent	SNP	C	C	T			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr11:76893185C>T	ENST00000409709.3	+	24	3365	c.3093C>T	c.(3091-3093)gaC>gaT	p.D1031D	MYO7A_ENST00000458637.2_Silent_p.D1031D|MYO7A_ENST00000409619.2_Silent_p.D1020D|MYO7A_ENST00000409893.1_Silent_p.D1031D	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1031	MyTH4 1. {ECO:0000255|PROSITE- ProRule:PRU00359}.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						ACCATGACGACGAGGGTGACC	0.602																																						ENST00000409709.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(3091-3093)gaC>gaT		myosin VIIA							45.0	52.0	50.0					11																	76893185		2101	4206	6307	SO:0001819	synonymous_variant	4647				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr11:76893185C>T	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.3093C>T	11.37:g.76893185C>T						MYO7A_ENST00000409893.1_Silent_p.D1031D|MYO7A_ENST00000409619.2_Silent_p.D1020D|MYO7A_ENST00000458637.2_Silent_p.D1031D	p.D1031D	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN			24	3365	+			1031			MyTH4 1.		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Silent	SNP	ENST00000409709.3	37	c.3093C>T	CCDS53683.1																																																																																				0.602	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260		5	118	5	118	---	---	---	---
KRT5	3852	broad.mit.edu	37	12	52912785	52912785	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr12:52912785G>A	ENST00000252242.4	-	2	1105	c.715C>T	c.(715-717)Cgc>Tgc	p.R239C		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	239	Coil 1B.|Rod.				cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|hemidesmosome assembly (GO:0031581)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		GAGTCCAGGCGGCCCCGTTCC	0.587																																						ENST00000252242.4																			0				endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35						c.(715-717)Cgc>Tgc		keratin 5							183.0	166.0	172.0					12																	52912785		2203	4300	6503	SO:0001583	missense	3852				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:52912785G>A		CCDS8830.1	12q13.13	2013-01-16	2008-08-01		ENSG00000186081	ENSG00000186081		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6442	protein-coding gene	gene with protein product		148040	"""epidermolysis bullosa simplex 2 Dowling-Meara/Kobner/Weber-Cockayne types"", ""keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types)"""	EBS2		1713141, 16831889	Standard	NM_000424		Approved	KRT5A	uc001san.3	P13647	OTTHUMG00000169657	ENST00000252242.4:c.715C>T	12.37:g.52912785G>A	ENSP00000252242:p.Arg239Cys						p.R239C	NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	2	1105	-			239			Coil 1B.|Rod.		Q6PI71|Q6UBJ0|Q8TA91	Missense_Mutation	SNP	ENST00000252242.4	37	c.715C>T	CCDS8830.1	.	.	.	.	.	.	.	.	.	.	G	11.69	1.712780	0.30413	.	.	ENSG00000186081	ENST00000252242;ENST00000456000;ENST00000549420	D;D	0.90676	-2.71;-2.71	5.31	4.41	0.53225	Filament (1);	0.000000	0.52532	D	0.000067	D	0.90981	0.7164	M	0.87180	2.865	0.53005	D	0.999967	P	0.42649	0.786	B	0.36378	0.223	D	0.92238	0.5798	10	0.87932	D	0	.	15.6638	0.77209	0.0:0.0:0.8624:0.1376	.	239	P13647	K2C5_HUMAN	C	239;204;129	ENSP00000252242:R239C;ENSP00000447209:R129C	ENSP00000252242:R239C	R	-	1	0	KRT5	51199052	0.993000	0.37304	0.999000	0.59377	0.663000	0.39108	2.165000	0.42396	1.449000	0.47699	0.655000	0.94253	CGC		0.587	KRT5-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405312.1			6	272	6	272	---	---	---	---
TXNRD1	7296	broad.mit.edu	37	12	104742131	104742131	+	Splice_Site	SNP	G	G	T			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr12:104742131G>T	ENST00000529546.1	+	14	1543	c.1318G>T	c.(1318-1320)Gta>Tta	p.V440L	TXNRD1_ENST00000427956.1_Splice_Site_p.V593L|TXNRD1_ENST00000354940.6_Splice_Site_p.V478L|TXNRD1_ENST00000503506.2_Splice_Site_p.V478L|TXNRD1_ENST00000397736.2_Splice_Site_p.V522L|TXNRD1_ENST00000378070.4_3'UTR|TXNRD1_ENST00000542918.1_Splice_Site_p.V528L|TXNRD1_ENST00000526950.1_Splice_Site_p.V547L|TXNRD1_ENST00000526691.1_Splice_Site_p.V530L|TXNRD1_ENST00000526390.1_Splice_Site_p.V522L|TXNRD1_ENST00000388854.3_Splice_Site_p.V530L|TXNRD1_ENST00000429002.2_Splice_Site_p.V628L|TXNRD1_ENST00000540716.1_Splice_Site_p.V440L|TXNRD1_ENST00000525566.1_Splice_Site_p.V628L|TXNRD1_ENST00000524698.1_Splice_Site_p.V478L			Q16881	TRXR1_HUMAN	thioredoxin reductase 1	628					cell proliferation (GO:0008283)|cell redox homeostasis (GO:0045454)|cellular lipid metabolic process (GO:0044255)|mesoderm formation (GO:0001707)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16					Arsenic trioxide(DB01169)|Flavin adenine dinucleotide(DB03147)	TCCCCTGCAGGTATTCACAAC	0.498																																					Ovarian(139;555 1836 9186 9946 10884)	ENST00000526691.1																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16						c.(1588-1590)Gta>Tta		thioredoxin reductase 1							154.0	147.0	149.0					12																	104742131		1971	4167	6138	SO:0001630	splice_region_variant	7296				cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr12:104742131G>T		CCDS53820.1, CCDS53821.1, CCDS53823.1, CCDS58274.1	12q23-q24.1	2012-03-01							12437	protein-coding gene	gene with protein product		601112				7589432	Standard	NM_001093771		Approved	TXNR, GRIM-12, Trxr1	uc021rcx.2	Q16881		ENST00000529546.1:c.1318-1G>T	12.37:g.104742131G>T						TXNRD1_ENST00000529546.1_Splice_Site_p.V440L|TXNRD1_ENST00000540716.1_Splice_Site_p.V440L|TXNRD1_ENST00000354940.6_Splice_Site_p.V478L|TXNRD1_ENST00000524698.1_Splice_Site_p.V478L|TXNRD1_ENST00000427956.1_Splice_Site_p.V593L|TXNRD1_ENST00000526950.1_Splice_Site_p.V547L|TXNRD1_ENST00000429002.2_Splice_Site_p.V628L|TXNRD1_ENST00000526390.1_Splice_Site_p.V522L|TXNRD1_ENST00000525566.1_Splice_Site_p.V628L|TXNRD1_ENST00000397736.2_Splice_Site_p.V522L|TXNRD1_ENST00000503506.2_Splice_Site_p.V478L|TXNRD1_ENST00000388854.3_Splice_Site_p.V530L|TXNRD1_ENST00000378070.4_3'UTR|TXNRD1_ENST00000542918.1_Splice_Site_p.V528L	p.V530L	NM_001261445.1|NM_003330.3	NP_001248374.1|NP_003321.3	Q16881	TRXR1_HUMAN			15	2044	+			628					B7Z1F4|B7Z3Y8|B7Z904|E9PMY9|F5H780|Q6FI31|Q6VB40|Q6VB41|Q6VB42|Q6VBP2|Q6VBP3|Q6VBP4|Q6VBP5|Q6VBP9|Q6VBQ0|Q6YNQ1|Q76P53|Q7LA96|Q8WVC8|Q99475|Q9UES8|Q9UH79	Splice_Site	SNP	ENST00000529546.1	37	c.1588G>T	CCDS58274.1	.	.	.	.	.	.	.	.	.	.	G	12.39	1.924431	0.34002	.	.	ENSG00000198431	ENST00000525566;ENST00000429002;ENST00000503506;ENST00000526691;ENST00000388854;ENST00000354940;ENST00000526390;ENST00000529546;ENST00000540716;ENST00000524698;ENST00000542918;ENST00000397736;ENST00000427956;ENST00000526950	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.92495	-3.05;-3.05;-3.05;-3.05;-3.05;-3.05;-3.05;-3.05;-3.05;-3.05;-3.05;-3.05;-3.05;-3.05	5.66	1.22	0.21188	FAD/NAD-linked reductase, dimerisation (1);Pyridine nucleotide-disulphide oxidoreductase, dimerisation (2);	.	.	.	.	D	0.87334	0.6151	L	0.52573	1.65	0.33885	D	0.636564	B;B;B;B;B;B;B	0.10296	0.001;0.0;0.003;0.0;0.0;0.002;0.0	B;B;B;B;B;B;B	0.10450	0.003;0.002;0.005;0.001;0.001;0.005;0.003	T	0.80832	-0.1206	8	.	.	.	-0.7546	8.9724	0.35915	0.5089:0.0:0.4911:0.0	.	528;522;628;530;478;628;593	B7Z2S5;E2QRB9;B7Z904;Q16881-4;B2R5P6;Q16881;E7EW10	.;.;.;.;.;TRXR1_HUMAN;.	L	628;628;478;530;530;478;522;440;440;478;528;522;593;547	ENSP00000434516:V628L;ENSP00000412045:V628L;ENSP00000421934:V478L;ENSP00000435929:V530L;ENSP00000373506:V530L;ENSP00000347020:V478L;ENSP00000435123:V522L;ENSP00000434919:V440L;ENSP00000442709:V440L;ENSP00000433425:V478L;ENSP00000440978:V528L;ENSP00000380844:V522L;ENSP00000393328:V593L;ENSP00000432812:V547L	.	V	+	1	0	TXNRD1	103266261	1.000000	0.71417	0.721000	0.30653	0.840000	0.47671	1.008000	0.29872	0.173000	0.19788	0.650000	0.86243	GTA		0.498	TXNRD1-004	PUTATIVE	basic|exp_conf|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000389969.1	NM_003330	Missense_Mutation	63	119	63	119	---	---	---	---
CYFIP1	23191	broad.mit.edu	37	15	22945111	22945111	+	Silent	SNP	G	G	A			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr15:22945111G>A	ENST00000313077.7	+	12	1307	c.1182G>A	c.(1180-1182)gcG>gcA	p.A394A	CYFIP1_ENST00000560848.1_Silent_p.A394A	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		TCGACCTGGCGCTGCAGGGCC	0.706																																						ENST00000313077.7																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						c.(1180-1182)gcG>gcA		cytoplasmic FMR1 interacting protein 1							18.0	19.0	19.0					15																	22945111		2201	4297	6498	SO:0001819	synonymous_variant	23191				axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding	g.chr15:22945111G>A	D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749			13759	protein-coding gene	gene with protein product	"""selective hybridizing clone"", ""cytoplasmic FMRP interacting protein 1"""	606322				11438699	Standard	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000313077.7:c.1182G>A	15.37:g.22945111G>A						CYFIP1_ENST00000560848.1_Silent_p.A394A	p.A394A	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)	12	1307	+		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	394						Silent	SNP	ENST00000313077.7	37	c.1182G>A	CCDS10009.1																																																																																				0.706	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251136.2	NM_014608		11	16	11	16	---	---	---	---
CACNB1	782	broad.mit.edu	37	17	37334247	37334247	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr17:37334247T>C	ENST00000394303.3	-	12	1343	c.1136A>G	c.(1135-1137)cAg>cGg	p.Q379R	CACNB1_ENST00000394310.3_Missense_Mutation_p.Q379R|CACNB1_ENST00000344140.5_Missense_Mutation_p.Q424R|RP5-906A24.2_ENST00000579256.1_RNA	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1 subunit	379					axon guidance (GO:0007411)|protein targeting to membrane (GO:0006612)|transport (GO:0006810)	sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Dronedarone(DB04855)|Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	AGGGGGGCACTGTGCCAGCTT	0.542																																					Esophageal Squamous(5;100 366 38393 41452 45827)	ENST00000394303.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						c.(1135-1137)cAg>cGg		calcium channel, voltage-dependent, beta 1 subunit	Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661)						123.0	118.0	120.0					17																	37334247		2203	4300	6503	SO:0001583	missense	782				axon guidance	voltage-gated calcium channel complex		g.chr17:37334247T>C		CCDS11334.1, CCDS42311.1, CCDS45665.1	17q21-q22	2013-03-20			ENSG00000067191	ENSG00000067191		"""Calcium channel subunits"""	1401	protein-coding gene	gene with protein product		114207		CACNLB1		8381767, 8395940	Standard	NM_000723		Approved		uc002hrm.2	Q02641	OTTHUMG00000133217	ENST00000394303.3:c.1136A>G	17.37:g.37334247T>C	ENSP00000377840:p.Gln379Arg					CACNB1_ENST00000394310.3_Missense_Mutation_p.Q379R|CACNB1_ENST00000344140.5_Missense_Mutation_p.Q424R	p.Q379R	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN			12	1343	-			379					A8K114|O15331|Q02639|Q02640|Q8N3X9|Q9C085|Q9UD79	Missense_Mutation	SNP	ENST00000394303.3	37	c.1136A>G	CCDS42311.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.116421	0.77323	.	.	ENSG00000067191	ENST00000539338;ENST00000394303;ENST00000344140;ENST00000394310;ENST00000536613	D;D;D	0.83506	-1.73;-1.73;-1.73	5.12	5.12	0.69794	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (1);	0.062472	0.64402	D	0.000004	D	0.92368	0.7578	M	0.90922	3.16	0.80722	D	1	P;P;D	0.55800	0.921;0.686;0.973	P;P;D	0.70487	0.866;0.825;0.969	D	0.93889	0.7178	10	0.87932	D	0	-11.8605	14.0397	0.64667	0.0:0.0:0.0:1.0	.	424;379;379	Q02641-2;Q02641-3;Q02641	.;.;CACB1_HUMAN	R	329;379;424;379;330	ENSP00000377840:Q379R;ENSP00000345461:Q424R;ENSP00000377847:Q379R	ENSP00000345461:Q424R	Q	-	2	0	CACNB1	34587773	1.000000	0.71417	1.000000	0.80357	0.597000	0.36814	7.739000	0.84976	2.159000	0.67721	0.383000	0.25322	CAG		0.542	CACNB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256945.3			61	123	61	123	---	---	---	---
KANSL1	284058	broad.mit.edu	37	17	44116470	44116470	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr17:44116470A>C	ENST00000262419.6	-	9	2785	c.2315T>G	c.(2314-2316)cTc>cGc	p.L772R	KANSL1_ENST00000574590.1_Missense_Mutation_p.L772R|KANSL1_ENST00000575318.1_Intron|KANSL1_ENST00000572904.1_Missense_Mutation_p.L772R|KANSL1_ENST00000432791.1_Missense_Mutation_p.L772R|KANSL1_ENST00000393476.3_Intron	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	772					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											TGGTGGGTTGAGCAAGCGCTC	0.592																																						ENST00000262419.6																			0											c.(2314-2316)cTc>cGc		KAT8 regulatory NSL complex subunit 1							227.0	189.0	202.0					17																	44116470		2203	4300	6503	SO:0001583	missense	284058					MLL1 complex	protein binding	g.chr17:44116470A>C	BX538006	CCDS11503.1, CCDS11503.2, CCDS74084.1	17q21.31	2012-02-20	2012-02-20	2012-02-20	ENSG00000120071	ENSG00000120071			24565	protein-coding gene	gene with protein product	"""centromere protein 36"""	612452	"""KIAA1267"""	KIAA1267		10574462	Standard	NM_015443		Approved	DKFZP727C091, MSL1v1, CENP-36, NSL1	uc002ikd.3	Q7Z3B3		ENST00000262419.6:c.2315T>G	17.37:g.44116470A>C	ENSP00000262419:p.Leu772Arg					KANSL1_ENST00000575318.1_Intron|KANSL1_ENST00000572904.1_Missense_Mutation_p.L772R|KANSL1_ENST00000432791.1_Missense_Mutation_p.L772R|KANSL1_ENST00000393476.3_Intron|KANSL1_ENST00000574590.1_Missense_Mutation_p.L772R	p.L772R	NM_001193466.1	NP_001180395	Q7Z3B3	K1267_HUMAN			9	2785	-			772					A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Missense_Mutation	SNP	ENST00000262419.6	37	c.2315T>G	CCDS11503.1	.	.	.	.	.	.	.	.	.	.	A	13.63	2.294589	0.40594	.	.	ENSG00000120071	ENST00000262419;ENST00000432791	T;T	0.13657	2.57;2.57	5.93	4.86	0.63082	.	0.244385	0.35067	N	0.003462	T	0.13500	0.0327	N	0.19112	0.55	0.42116	D	0.991409	P;P;P	0.45176	0.801;0.852;0.852	P;P;P	0.50896	0.561;0.653;0.653	T	0.17653	-1.0362	10	0.24483	T	0.36	-5.0625	9.6466	0.39872	0.9211:0.0:0.0789:0.0	.	103;772;772	Q7Z3B3-2;C9JHY2;Q7Z3B3	.;.;K1267_HUMAN	R	772	ENSP00000262419:L772R;ENSP00000387393:L772R	ENSP00000262419:L772R	L	-	2	0	KIAA1267	41472317	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.270000	0.43355	1.081000	0.41110	0.533000	0.62120	CTC		0.592	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440274.1	NM_015443		35	82	35	82	---	---	---	---
RECQL5	9400	broad.mit.edu	37	17	73627271	73627271	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr17:73627271C>G	ENST00000317905.5	-	10	1666	c.1507G>C	c.(1507-1509)Gag>Cag	p.E503Q	RECQL5_ENST00000423245.2_Missense_Mutation_p.E476Q|SMIM5_ENST00000375215.3_5'Flank|RECQL5_ENST00000443199.2_5'UTR	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	503	Interaction with POLR2A.				chromosome separation (GO:0051304)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|mitotic nuclear division (GO:0007067)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA helicase activity (GO:0003678)|nucleic acid binding (GO:0003676)|RNA polymerase II core binding (GO:0000993)			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			AGGTTCCACTCCCGCTTGTGG	0.647								Other identified genes with known or suspected DNA repair function																														ENST00000317905.5																			0				breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36						c.(1507-1509)Gag>Cag	Other identified genes with known or suspected DNA repair function	RecQ protein-like 5							57.0	64.0	62.0					17																	73627271		2201	4295	6496	SO:0001583	missense	9400				DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding	g.chr17:73627271C>G	AB006533	CCDS32735.1, CCDS42380.1, CCDS45777.1	17q25	2014-03-07	2014-03-07	2014-03-07	ENSG00000108469	ENSG00000108469			9950	protein-coding gene	gene with protein product	"""RecQ protein 5"""	603781				9878247	Standard	NM_004259		Approved	RecQ5, FLJ90603	uc010dgl.3	O94762		ENST00000317905.5:c.1507G>C	17.37:g.73627271C>G	ENSP00000317636:p.Glu503Gln					RECQL5_ENST00000443199.2_5'UTR|RECQL5_ENST00000423245.2_Missense_Mutation_p.E476Q	p.E503Q	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)		10	1666	-	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		503					Q9H0B1|Q9P1W7|Q9UNC8	Missense_Mutation	SNP	ENST00000317905.5	37	c.1507G>C	CCDS42380.1	.	.	.	.	.	.	.	.	.	.	C	15.37	2.814498	0.50527	.	.	ENSG00000108469	ENST00000443199;ENST00000423245;ENST00000317905	T;T	0.60672	0.17;0.2	5.69	5.69	0.88448	.	0.209149	0.42964	D	0.000635	T	0.68229	0.2978	M	0.66939	2.045	0.80722	D	1	P;P	0.51537	0.946;0.908	P;P	0.52031	0.688;0.596	T	0.66544	-0.5897	10	0.38643	T	0.18	-18.2244	18.7929	0.91982	0.0:1.0:0.0:0.0	.	503;476	O94762;Q6P4G0	RECQ5_HUMAN;.	Q	98;503;503	ENSP00000394820:E503Q;ENSP00000317636:E503Q	ENSP00000317636:E503Q	E	-	1	0	RECQL5	71138866	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	4.027000	0.57239	2.692000	0.91855	0.563000	0.77884	GAG		0.647	RECQL5-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448207.1	NM_004259		43	71	43	71	---	---	---	---
SMAD2	4087	broad.mit.edu	37	18	45368305	45368305	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr18:45368305T>C	ENST00000402690.2	-	11	1691	c.1297A>G	c.(1297-1299)Agt>Ggt	p.S433G	SMAD2_ENST00000356825.4_Missense_Mutation_p.S403G|SMAD2_ENST00000586040.1_Missense_Mutation_p.S403G|SMAD2_ENST00000262160.6_Missense_Mutation_p.S433G	NM_001003652.3	NP_001003652.1	Q15796	SMAD2_HUMAN	SMAD family member 2	433	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|cell fate commitment (GO:0045165)|common-partner SMAD protein phosphorylation (GO:0007182)|developmental growth (GO:0048589)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic foregut morphogenesis (GO:0048617)|endoderm formation (GO:0001706)|gastrulation (GO:0007369)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|insulin secretion (GO:0030073)|intracellular signal transduction (GO:0035556)|lung development (GO:0030324)|mesoderm formation (GO:0001707)|negative regulation of cell proliferation (GO:0008285)|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)|nodal signaling pathway (GO:0038092)|organ growth (GO:0035265)|palate development (GO:0060021)|pancreas development (GO:0031016)|paraxial mesoderm morphogenesis (GO:0048340)|pericardium development (GO:0060039)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900224)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|primary miRNA processing (GO:0031053)|regulation of binding (GO:0051098)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to cholesterol (GO:0070723)|response to glucose (GO:0009749)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein complex assembly (GO:0007183)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|zygotic specification of dorsal/ventral axis (GO:0007352)	activin responsive factor complex (GO:0032444)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|SMAD2-SMAD3 protein complex (GO:0071144)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|co-SMAD binding (GO:0070410)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|phosphatase binding (GO:0019902)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|type I transforming growth factor beta receptor binding (GO:0034713)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1)	43						CAAGGAGTACTTGTTACCGTC	0.413																																						ENST00000402690.2																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1)	43						c.(1297-1299)Agt>Ggt		SMAD family member 2							140.0	123.0	129.0					18																	45368305		2203	4300	6503	SO:0001583	missense	4087				anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	activin responsive factor complex|cytosol	activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding	g.chr18:45368305T>C	U65019	CCDS11934.1	18q21	2006-11-06	2006-11-06	2004-05-26	ENSG00000175387	ENSG00000175387		"""SMADs"""	6768	protein-coding gene	gene with protein product		601366	"""MAD, mothers against decapentaplegic homolog 2 (Drosophila)"", ""SMAD, mothers against DPP homolog 2 (Drosophila)"""	MADH2		8752209, 8673135	Standard	NM_001003652		Approved	MADR2, JV18-1	uc002lcz.4	Q15796	OTTHUMG00000132652	ENST00000402690.2:c.1297A>G	18.37:g.45368305T>C	ENSP00000384449:p.Ser433Gly					SMAD2_ENST00000262160.6_Missense_Mutation_p.S433G|SMAD2_ENST00000586040.1_Missense_Mutation_p.S403G|SMAD2_ENST00000356825.4_Missense_Mutation_p.S403G	p.S433G	NM_001003652.3	NP_001003652.1	Q15796	SMAD2_HUMAN			11	1691	-			433			MH2.			Missense_Mutation	SNP	ENST00000402690.2	37	c.1297A>G	CCDS11934.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.463748	0.84425	.	.	ENSG00000175387	ENST00000262160;ENST00000356825;ENST00000402690	D;D;D	0.97529	-4.42;-4.42;-4.42	5.65	5.65	0.86999	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.000000	0.85682	D	0.000000	D	0.98321	0.9443	M	0.83012	2.62	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.66196	0.921;0.942	D	0.99372	1.0920	10	0.87932	D	0	.	16.1778	0.81874	0.0:0.0:0.0:1.0	.	403;433	Q15796-2;Q15796	.;SMAD2_HUMAN	G	433;403;433	ENSP00000262160:S433G;ENSP00000349282:S403G;ENSP00000384449:S433G	ENSP00000262160:S433G	S	-	1	0	SMAD2	43622303	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.997000	0.88414	2.279000	0.76181	0.533000	0.62120	AGT		0.413	SMAD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450571.1	NM_005901		18	10	18	10	---	---	---	---
SPPL2B	56928	broad.mit.edu	37	19	2345262	2345262	+	RNA	SNP	G	G	C			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr19:2345262G>C	ENST00000452401.2	+	0	1365							Q8TCT7	SPP2B_HUMAN	signal peptide peptidase like 2B						membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|regulation of immune response (GO:0050776)	endosome membrane (GO:0010008)|Golgi-associated vesicle membrane (GO:0030660)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aspartic endopeptidase activity, intramembrane cleaving (GO:0042500)|protein homodimerization activity (GO:0042803)						Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTGCTGGTGGCCTACTGCCA	0.667																																						ENST00000452401.2																			0													signal peptide peptidase like 2B							65.0	70.0	68.0					19																	2345262		1991	4159	6150			56928					Golgi membrane|integral to membrane	aspartic-type endopeptidase activity	g.chr19:2345262G>C		CCDS74252.1, CCDS74253.1	19p13.3	2012-02-21			ENSG00000005206	ENSG00000005206			30627	protein-coding gene	gene with protein product	"""intramembrane protease 4"""	608239				10819331	Standard	NM_001077238		Approved	IMP4, PSL1, KIAA1532	uc002lvs.3	Q8TCT7			19.37:g.2345262G>C										Q8TCT7	PSL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	0	1365	+		Hepatocellular(1079;0.137)						D6W609|O60365|Q567S3|Q8IUH9|Q9BUY6|Q9H3M4|Q9NPN2|Q9P1Z6	RNA	SNP	ENST00000452401.2	37			.	.	.	.	.	.	.	.	.	.	G	21.9	4.220512	0.79464	.	.	ENSG00000005206	ENST00000452401	.	.	.	4.02	4.02	0.46733	.	0.185192	0.46442	D	0.000291	T	0.77685	0.4167	.	.	.	0.45718	D	0.998625	D;D	0.71674	0.998;0.988	D;D	0.67231	0.95;0.938	D	0.84795	0.0781	7	0.87932	D	0	-31.4517	14.7321	0.69388	0.0:0.0:1.0:0.0	.	430;429	Q8TCT7;C9JFE6	PSL1_HUMAN;.	P	429	.	ENSP00000404539:A429P	A	+	1	0	AC004410.1	2296262	1.000000	0.71417	1.000000	0.80357	0.702000	0.40608	9.697000	0.98697	1.801000	0.52704	0.401000	0.26515	GCC		0.667	SPPL2B-202	KNOWN	basic	processed_transcript	processed_transcript		NM_020172		30	50	30	50	---	---	---	---
LRG1	116844	broad.mit.edu	37	19	4538288	4538288	+	Silent	SNP	C	C	T	rs200554386		TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr19:4538288C>T	ENST00000306390.6	-	2	1168	c.708G>A	c.(706-708)ccG>ccA	p.P236P	CTB-50L17.14_ENST00000586020.1_Intron|LRG1_ENST00000586883.1_5'Flank	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1	236					brown fat cell differentiation (GO:0050873)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCGCAGGTCCGGCTGCGGCA	0.587																																						ENST00000306390.6																			0				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13						c.(706-708)ccG>ccA		leucine-rich alpha-2-glycoprotein 1							204.0	221.0	215.0					19																	4538288		2203	4300	6503	SO:0001819	synonymous_variant	116844					extracellular region|membrane		g.chr19:4538288C>T		CCDS12130.1	19p13.3	2013-09-20			ENSG00000171236	ENSG00000171236			29480	protein-coding gene	gene with protein product	"""leucine rich alpha 2 glycoprotein"""	611289				3856868, 12223515	Standard	NM_052972		Approved	LRG	uc002mau.3	P02750	OTTHUMG00000182010	ENST00000306390.6:c.708G>A	19.37:g.4538288C>T						CTB-50L17.14_ENST00000586020.1_Intron	p.P236P	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)	2	1168	-		Hepatocellular(1079;0.137)	236					Q8N4F5|Q96QZ4	Silent	SNP	ENST00000306390.6	37	c.708G>A	CCDS12130.1																																																																																				0.587	LRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458654.2	NM_052972		43	418	43	418	---	---	---	---
TMEM145	284339	broad.mit.edu	37	19	42820687	42820687	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr19:42820687T>C	ENST00000301204.3	+	9	742	c.701T>C	c.(700-702)aTt>aCt	p.I234T	TMEM145_ENST00000598766.1_Missense_Mutation_p.I258T	NM_173633.2	NP_775904.2	Q8NBT3	TM145_HUMAN	transmembrane protein 145	234					G-protein coupled receptor signaling pathway (GO:0007186)|response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				ACCGATGGCATTGGCAACGAG	0.552																																						ENST00000598766.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27						c.(772-774)aTt>aCt		transmembrane protein 145							152.0	134.0	140.0					19																	42820687		2203	4300	6503	SO:0001583	missense	284339					integral to membrane		g.chr19:42820687T>C	AK075286	CCDS12603.1	19q13.2	2008-02-05				ENSG00000167619			26912	protein-coding gene	gene with protein product							Standard	NM_173633		Approved	FLJ90805	uc002otk.1	Q8NBT3		ENST00000301204.3:c.701T>C	19.37:g.42820687T>C	ENSP00000301204:p.Ile234Thr					TMEM145_ENST00000301204.3_Missense_Mutation_p.I234T	p.I258T			Q8NBT3	TM145_HUMAN			9	773	+		Prostate(69;0.00682)	234						Missense_Mutation	SNP	ENST00000301204.3	37	c.773T>C	CCDS12603.1	.	.	.	.	.	.	.	.	.	.	T	14.33	2.504599	0.44558	.	.	ENSG00000167619	ENST00000301204	T	0.46063	0.88	3.93	3.93	0.45458	Rhodopsin-like GPCR transmembrane domain (1);	0.085889	0.47455	D	0.000240	T	0.32971	0.0847	L	0.46157	1.445	0.46113	D	0.99887	B	0.21606	0.058	B	0.24269	0.052	T	0.08229	-1.0732	10	0.11485	T	0.65	-5.0611	11.0586	0.47933	0.0:0.0:0.0:1.0	.	234	Q8NBT3	TM145_HUMAN	T	234	ENSP00000301204:I234T	ENSP00000301204:I234T	I	+	2	0	TMEM145	47512527	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.581000	0.60949	1.568000	0.49683	0.374000	0.22700	ATT		0.552	TMEM145-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463737.1	NM_173633		11	81	11	81	---	---	---	---
UBE2V1	7335	broad.mit.edu	37	20	48699408	48699408	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr20:48699408G>A	ENST00000371674.3	-	4	385	c.341C>T	c.(340-342)tCa>tTa	p.S114L	UBE2V1_ENST00000420027.2_Missense_Mutation_p.S70L|TMEM189_ENST00000557021.1_Missense_Mutation_p.S337L|TMEM189-UBE2V1_ENST00000341698.2_Missense_Mutation_p.S337L|UBE2V1_ENST00000371657.5_Missense_Mutation_p.S72L|UBE2V1_ENST00000396059.3_5'UTR|UBE2V1_ENST00000340309.3_Missense_Mutation_p.S137L|UBE2V1_ENST00000415862.2_Missense_Mutation_p.S70L|UBE2V1_ENST00000371677.3_Missense_Mutation_p.S137L	NM_001032288.2|NM_001257395.1	NP_001027459.1|NP_001244324.1	Q13404	UB2V1_HUMAN	ubiquitin-conjugating enzyme E2 variant 1	114					cell differentiation (GO:0030154)|error-free postreplication DNA repair (GO:0042275)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription, DNA-templated (GO:0045893)|protein K63-linked ubiquitination (GO:0070534)|protein polyubiquitination (GO:0000209)|regulation of DNA repair (GO:0006282)|regulation of transcription, DNA-templated (GO:0006355)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein complex (GO:0043234)|UBC13-UEV1A complex (GO:0035370)|ubiquitin conjugating enzyme complex (GO:0031371)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(2)|large_intestine(3)|lung(4)	9			BRCA - Breast invasive adenocarcinoma(9;4.74e-06)			GATGCTATATGAATTCTGCCA	0.423																																						ENST00000557021.1																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(2)	8						c.(1009-1011)tCa>tTa		transmembrane protein 189							68.0	66.0	67.0					20																	48699408		2203	4298	6501	SO:0001583	missense	387521							g.chr20:48699408G>A	U39360	CCDS13426.1, CCDS13427.1, CCDS33483.1, CCDS58775.1, CCDS74740.1	20q13.2	2007-07-18			ENSG00000244687	ENSG00000244687		"""Ubiquitin-conjugating enzymes E2"""	12494	protein-coding gene	gene with protein product		602995		UBE2V		9418904, 9305758	Standard	NM_001032288		Approved	UEV-1, CROC-1, UEV1A, CROC1		Q13404	OTTHUMG00000152626	ENST00000371674.3:c.341C>T	20.37:g.48699408G>A	ENSP00000360739:p.Ser114Leu					UBE2V1_ENST00000396059.3_5'UTR|UBE2V1_ENST00000415862.2_Missense_Mutation_p.S70L|UBE2V1_ENST00000420027.2_Missense_Mutation_p.S70L|TMEM189-UBE2V1_ENST00000341698.2_Missense_Mutation_p.S337L|UBE2V1_ENST00000371674.3_Missense_Mutation_p.S114L|UBE2V1_ENST00000340309.3_Missense_Mutation_p.S137L|UBE2V1_ENST00000371657.5_Missense_Mutation_p.S72L|UBE2V1_ENST00000371677.3_Missense_Mutation_p.S137L	p.S337L	NM_199203.2	NP_954673			BRCA - Breast invasive adenocarcinoma(9;3.02e-07)		8	1170	-								E1P629|Q13403|Q13532|Q5TGE0|Q5TGE3|Q96H34|Q9GZT0|Q9GZW1|Q9H4J3|Q9H4J4|Q9UKL1|Q9UM48|Q9UM49|Q9UM50	Missense_Mutation	SNP	ENST00000371674.3	37	c.1010C>T	CCDS33483.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.956830	0.92726	.	.	ENSG00000124208;ENSG00000244687;ENSG00000244687;ENSG00000244687;ENSG00000244687;ENSG00000244687;ENSG00000244687;ENSG00000244687;ENSG00000240849	ENST00000341698;ENST00000371657;ENST00000371674;ENST00000340309;ENST00000415862;ENST00000371677;ENST00000420027;ENST00000354374;ENST00000557021	T;T;T;T;T;T;T;T	0.13778	2.56;2.56;2.56;2.56;2.56;2.56;2.56;2.56	5.35	5.35	0.76521	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.44097	U	0.000487	T	0.30885	0.0779	L	0.61387	1.9	0.58432	D	0.999995	D;B;B;P	0.55800	0.973;0.348;0.348;0.628	P;P;P;P	0.54629	0.757;0.523;0.523;0.562	T	0.01762	-1.1279	10	0.72032	D	0.01	-0.3462	19.0759	0.93161	0.0:0.0:1.0:0.0	.	337;137;70;114	G3V2F7;Q13404-7;Q13404-6;Q13404	.;.;.;UB2V1_HUMAN	L	337;72;114;137;70;137;70;70;337	ENSP00000344166:S337L;ENSP00000360720:S72L;ENSP00000360739:S114L;ENSP00000340305:S137L;ENSP00000407770:S70L;ENSP00000360742:S137L;ENSP00000395264:S70L;ENSP00000450635:S337L	ENSP00000344166:S337L	S	-	2	0	TMEM189-UBE2V1;UBE2V1;TMEM189	48132815	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	9.476000	0.97823	2.506000	0.84524	0.650000	0.86243	TCA		0.423	UBE2V1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080530.1	NM_021988		26	35	26	35	---	---	---	---
KCNJ4	3761	broad.mit.edu	37	22	38822859	38822859	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr22:38822859G>A	ENST00000303592.3	-	2	1537	c.1279C>T	c.(1279-1281)Cgc>Tgc	p.R427C	RP3-434P1.6_ENST00000433230.1_RNA	NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	KCNJ4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	427					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|PDZ domain binding (GO:0030165)			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					GCCTGCATGCGCTCCAGGTCC	0.692																																						ENST00000303592.3																			0				endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(1279-1281)Cgc>Tgc		potassium inwardly-rectifying channel, subfamily J, member 4							66.0	74.0	71.0					22																	38822859		2201	4300	6501	SO:0001583	missense	3761				synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding	g.chr22:38822859G>A	U07364	CCDS13971.1	22q13.1	2011-07-05			ENSG00000168135	ENSG00000168135		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6265	protein-coding gene	gene with protein product		600504				8016146, 16382105	Standard	NM_152868		Approved	Kir2.3, HIR, HRK1, hIRK2, IRK3	uc003avs.1	P48050	OTTHUMG00000151131	ENST00000303592.3:c.1279C>T	22.37:g.38822859G>A	ENSP00000306497:p.Arg427Cys					RP3-434P1.6_ENST00000433230.1_RNA	p.R427C	NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	IRK4_HUMAN			2	1537	-	Melanoma(58;0.0286)		427					Q14D44	Missense_Mutation	SNP	ENST00000303592.3	37	c.1279C>T	CCDS13971.1	.	.	.	.	.	.	.	.	.	.	G	17.56	3.419745	0.62622	.	.	ENSG00000168135	ENST00000303592	D	0.90504	-2.68	4.48	3.39	0.38822	.	0.947029	0.08717	U	0.904125	D	0.90762	0.7100	L	0.32530	0.975	0.51767	D	0.999934	D	0.89917	1.0	P	0.54706	0.759	D	0.88171	0.2864	10	0.56958	D	0.05	.	14.3955	0.67007	0.0:0.0:0.8524:0.1476	.	427	P48050	IRK4_HUMAN	C	427	ENSP00000306497:R427C	ENSP00000306497:R427C	R	-	1	0	KCNJ4	37152805	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.189000	0.58358	2.212000	0.71576	0.555000	0.69702	CGC		0.692	KCNJ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321447.1	NM_004981		65	129	65	129	---	---	---	---
SPANXD	64648	broad.mit.edu	37	X	140785743	140785743	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chrX:140785743T>A	ENST00000370515.3	-	2	506	c.173A>T	c.(172-174)aAc>aTc	p.N58I		NM_032417.2|NM_145665.1	NP_115793.1|NP_663698.1	Q9BXN6	SPNXD_HUMAN	SPANX family, member D	58						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	Acute lymphoblastic leukemia(192;7.65e-05)					TCTTTTAAAGTTCCTCCTGTA	0.483																																						ENST00000370515.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(172-174)aAc>aTc		SPANX family, member D							237.0	184.0	202.0					X																	140785743		2202	4287	6489	SO:0001583	missense	64648							g.chrX:140785743T>A	AJ457791	CCDS14675.1	Xq27.2	2014-06-19			ENSG00000196406	ENSG00000196406			14332	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 4"""	300670, 300671	"""SPANX family, member E"""	SPANXE			Standard	NM_032417		Approved	CT11.4		Q9BXN6	OTTHUMG00000022563	ENST00000370515.3:c.173A>T	X.37:g.140785743T>A	ENSP00000359546:p.Asn58Ile						p.N58I	NM_032417.2|NM_145665.1	NP_115793.1|NP_663698.1					2	506	-	Acute lymphoblastic leukemia(192;7.65e-05)							Q5JWI1	Missense_Mutation	SNP	ENST00000370515.3	37	c.173A>T	CCDS14675.1	.	.	.	.	.	.	.	.	.	.	N	10.09	1.253769	0.22965	.	.	ENSG00000196406	ENST00000370515	T	0.06933	3.24	.	.	.	.	.	.	.	.	T	0.11879	0.0289	.	.	.	0.09310	N	1	P	0.48998	0.918	P	0.49140	0.601	T	0.16988	-1.0384	6	0.72032	D	0.01	.	.	.	.	.	58	Q9BXN6	SPNXD_HUMAN	I	58	ENSP00000359546:N58I	ENSP00000359546:N58I	N	-	2	0	SPANXD	140613409	0.006000	0.16342	0.005000	0.12908	0.006000	0.05464	0.065000	0.14466	0.358000	0.24211	0.058000	0.15282	AAC		0.483	SPANXD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058598.1			21	203	21	203	---	---	---	---
MT-ND4	4538	broad.mit.edu	37	M	11280	11280	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chrM:11280T>C	ENST00000361381.2	+	1	521	c.521T>C	c.(520-522)cTa>cCa	p.L174P	MT-TR_ENST00000387439.1_RNA|MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-ND5_ENST00000361567.2_5'Flank|MT-TH_ENST00000387441.1_RNA|MT-TG_ENST00000387429.1_RNA			P03905	NU4M_HUMAN	mitochondrially encoded NADH dehydrogenase 4	174					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1)	13						CCTAGGCTCACTAAACATTCT	0.428																																						ENST00000361381.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1)	13						c.(520-522)cTa>cCa		mitochondrially encoded NADH dehydrogenase 4																																				SO:0001583	missense	4538							g.chrM:11280T>C			mitochondria	2014-02-03	2005-02-15	2005-02-16	ENSG00000198886	ENSG00000198886	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7459	protein-coding gene	gene with protein product	"""complex I ND4 subunit"", ""NADH-ubiquinone oxidoreductase chain 4"""	516003	"""NADH dehydrogenase 4"", ""Leber optic neuropathy"""	MTND4, LHON		8103501	Standard			Approved	ND4, NAD4		P03905		ENST00000361381.2:c.521T>C	M.37:g.11280T>C	ENSP00000354961:p.Leu174Pro						p.L174P							1	521	+								Q6RL39|Q6RQN9|Q8HNR8	Missense_Mutation	SNP	ENST00000361381.2	37	c.521T>C																																																																																					0.428	MT-ND4-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024035		3	2	3	2	---	---	---	---
