#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
CATSPER4	378807	broad.mit.edu	37	1	26524882	26524882	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr1:26524882G>A	ENST00000456354.2	+	6	851	c.784G>A	c.(784-786)Ggc>Agc	p.G262S		NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	262					calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sodium ion transport (GO:0006814)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		CACCCAGGACGGCTGGGTGGA	0.557																																						uc010oez.1																			0				ovary(1)	1						c.(784-786)GGC>AGC		cation channel, sperm associated 4							123.0	119.0	120.0					1																	26524882		2203	4300	6503	SO:0001583	missense	378807				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity	g.chr1:26524882G>A	BN000273	CCDS30645.1	1p35.3	2011-07-05			ENSG00000188782	ENSG00000188782		"""Voltage-gated ion channels / Cation channels, sperm associated"""	23220	protein-coding gene	gene with protein product		609121				12932298, 17227845, 16382101	Standard	NM_198137		Approved		uc010oez.2	Q7RTX7	OTTHUMG00000003383	ENST00000456354.2:c.784G>A	1.37:g.26524882G>A	ENSP00000390423:p.Gly262Ser					CATSPER4_uc010oey.1_Missense_Mutation_p.G84S|CATSPER4_uc009vsf.2_RNA	p.G262S	NM_198137	NP_937770	Q7RTX7	CTSR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)	6	784	+		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)	262					A1A4W6|Q5VY71	Missense_Mutation	SNP	ENST00000456354.2	37	c.784G>A	CCDS30645.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.021687	0.75275	.	.	ENSG00000188782	ENST00000338855;ENST00000456354	D;D	0.99886	-7.52;-7.52	4.55	4.55	0.56014	Ion transport (1);	0.000000	0.53938	D	0.000047	D	0.99775	0.9907	L	0.51422	1.61	0.44843	D	0.997855	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96175	0.9126	10	0.87932	D	0	-18.2662	13.1463	0.59463	0.0:0.0:1.0:0.0	.	262;246	Q7RTX7;Q7RTX7-2	CTSR4_HUMAN;.	S	262	ENSP00000341006:G262S;ENSP00000390423:G262S	ENSP00000341006:G262S	G	+	1	0	CATSPER4	26397469	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	5.626000	0.67777	2.231000	0.72958	0.467000	0.42956	GGC		0.557	CATSPER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019849.2	NM_198137	
RSU1	6251	broad.mit.edu	37	10	16794981	16794981	+	Missense_Mutation	SNP	T	T	C	rs149666298	byFrequency	TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr10:16794981T>C	ENST00000377921.3	-	5	720	c.419A>G	c.(418-420)tAt>tGt	p.Y140C	RSU1_ENST00000602389.1_Missense_Mutation_p.Y87C|RSU1_ENST00000464074.2_5'UTR|RSU1_ENST00000345264.5_Missense_Mutation_p.Y140C			Q15404	RSU1_HUMAN	Ras suppressor protein 1	140					cell junction assembly (GO:0034329)|positive regulation of neural precursor cell proliferation (GO:2000179)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(1;7.54e-08)		GTCACTTAGATAGAGTGCACG	0.398																																						uc001iok.2																			0				central_nervous_system(1)	1						c.(418-420)TAT>TGT		ras suppressor protein 1 isoform 2		T	CYS/TYR,CYS/TYR	2,4404	4.2+/-10.8	0,2,2201	38.0	38.0	38.0		419,260	5.2	1.0	10	dbSNP_134	38	7,8593	5.7+/-21.5	0,7,4293	no	missense,missense	RSU1	NM_012425.3,NM_152724.2	194,194	0,9,6494	CC,CT,TT		0.0814,0.0454,0.0692	probably-damaging,probably-damaging	140/278,87/225	16794981	9,12997	2203	4300	6503	SO:0001583	missense	6251				cell junction assembly|signal transduction	cytosol	protein binding	g.chr10:16794981T>C	AK055596	CCDS7112.1, CCDS31157.1	10p13	2012-09-20			ENSG00000148484	ENSG00000148484			10464	protein-coding gene	gene with protein product		179555				8288261	Standard	NM_152724		Approved	RSP-1, FLJ31034	uc001iol.3	Q15404	OTTHUMG00000017740	ENST00000377921.3:c.419A>G	10.37:g.16794981T>C	ENSP00000367154:p.Tyr140Cys					RSU1_uc001iol.2_Missense_Mutation_p.Y140C|RSU1_uc001iom.2_Missense_Mutation_p.Y87C|RSU1_uc001ion.2_Missense_Mutation_p.Y140C	p.Y140C	NM_152724	NP_689937	Q15404	RSU1_HUMAN		GBM - Glioblastoma multiforme(1;7.54e-08)	5	721	-			140			LRR 5.		A8KA46|D3DRU3|Q6FI17	Missense_Mutation	SNP	ENST00000377921.3	37	c.419A>G	CCDS7112.1	.	.	.	.	.	.	.	.	.	.	T	17.48	3.399529	0.62177	4.54E-4	8.14E-4	ENSG00000148484	ENST00000345264;ENST00000377921;ENST00000377911	T;T	0.53640	0.61;0.61	5.17	5.17	0.71159	.	0.059327	0.64402	D	0.000001	T	0.63546	0.2520	L	0.55834	1.745	0.80722	D	1	D;D	0.89917	0.997;1.0	P;D	0.85130	0.823;0.997	T	0.62586	-0.6823	10	0.39692	T	0.17	-4.4522	15.095	0.72226	0.0:0.0:0.0:1.0	.	140;140	B0YJ73;Q15404	.;RSU1_HUMAN	C	140;140;87	ENSP00000339521:Y140C;ENSP00000367154:Y140C	ENSP00000339521:Y140C	Y	-	2	0	RSU1	16834987	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.919000	0.70005	1.971000	0.57363	0.524000	0.50904	TAT		0.398	RSU1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047006.1	NM_012425, NM_152724	
MAP3K8	1326	broad.mit.edu	37	10	30739369	30739369	+	Silent	SNP	A	A	G			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr10:30739369A>G	ENST00000263056.1	+	5	1383	c.687A>G	c.(685-687)gaA>gaG	p.E229E	MAP3K8_ENST00000542547.1_Silent_p.E229E|MAP3K8_ENST00000375321.1_Silent_p.E229E	NM_001244134.1|NM_005204.3	NP_001231063.1|NP_005195.2	P41279	M3K8_HUMAN	mitogen-activated protein kinase kinase kinase 8	229	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|protein phosphorylation (GO:0006468)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Prostate(175;0.151)				GAGAATTTGAAATTATTTGGG	0.418																																						uc001ivi.1																			0				breast(3)|central_nervous_system(1)	4						c.(685-687)GAA>GAG		mitogen-activated protein kinase kinase kinase							96.0	92.0	93.0					10																	30739369		2203	4300	6503	SO:0001819	synonymous_variant	1326				cell cycle|T cell costimulation	cytosol	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding	g.chr10:30739369A>G	D14497	CCDS7166.1	10p11.2	2011-06-09			ENSG00000107968	ENSG00000107968		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6860	protein-coding gene	gene with protein product		191195		COT, ESTF		2072910, 8479752	Standard	NM_005204		Approved	Tpl-2, EST, c-COT, MEKK8	uc009xlf.2	P41279	OTTHUMG00000017889	ENST00000263056.1:c.687A>G	10.37:g.30739369A>G						MAP3K8_uc009xlf.1_Silent_p.E229E|MAP3K8_uc001ivj.1_Silent_p.E229E	p.E229E	NM_005204	NP_005195	P41279	M3K8_HUMAN			5	1383	+		Prostate(175;0.151)	229			Protein kinase.		A8K2Q5|D3DRX1|Q14275|Q5T855|Q9HC81	Silent	SNP	ENST00000263056.1	37	c.687A>G	CCDS7166.1	.	.	.	.	.	.	.	.	.	.	A	10.03	1.239115	0.22711	.	.	ENSG00000107968	ENST00000430603	.	.	.	5.33	0.413	0.16401	.	.	.	.	.	T	0.57140	0.2033	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50890	-0.8774	4	.	.	.	.	9.5768	0.39463	0.641:0.0:0.359:0.0	.	.	.	.	R	150	.	.	K	+	2	0	MAP3K8	30779375	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.811000	0.38942	0.101000	0.17610	0.528000	0.53228	AAA		0.418	MAP3K8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047416.2	NM_005204	
ZNF37A	7587	broad.mit.edu	37	10	38407378	38407378	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr10:38407378C>A	ENST00000361085.5	+	7	1644	c.1299C>A	c.(1297-1299)caC>caA	p.H433Q	ZNF37A_ENST00000351773.3_Missense_Mutation_p.H433Q	NM_001178101.1|NM_003421.2	NP_001171572.1|NP_003412.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	433					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						TAAGAACTCACACAGGTGAGA	0.383																																						uc001izk.2																			0				breast(1)	1						c.(1297-1299)CAC>CAA		zinc finger protein 37a							50.0	55.0	53.0					10																	38407378		2202	4300	6502	SO:0001583	missense	7587					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:38407378C>A	X69115	CCDS31183.1	10p11.2	2013-01-08	2006-05-11		ENSG00000075407	ENSG00000075407		"""Zinc fingers, C2H2-type"", ""-"""	13102	protein-coding gene	gene with protein product			"""zinc finger protein 37a (KOX 21)"""			2014798, 8464732	Standard	NM_001178101		Approved	KOX21, ZNF37	uc001izl.3	P17032	OTTHUMG00000017990	ENST00000361085.5:c.1299C>A	10.37:g.38407378C>A	ENSP00000354377:p.His433Gln					ZNF37A_uc001izl.2_Missense_Mutation_p.H433Q|ZNF37A_uc001izm.2_Missense_Mutation_p.H433Q	p.H433Q	NM_001007094	NP_001007095	P17032	ZN37A_HUMAN			8	2118	+			433			C2H2-type 8.		B3KRQ3|D3DRZ3|Q96B88	Missense_Mutation	SNP	ENST00000361085.5	37	c.1299C>A	CCDS31183.1	.	.	.	.	.	.	.	.	.	.	C	14.54	2.566030	0.45694	.	.	ENSG00000075407	ENST00000351773;ENST00000361085	T;T	0.66995	-0.24;-0.24	2.34	-2.59	0.06209	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.81437	0.4822	M	0.92833	3.35	0.28138	N	0.929906	D	0.71674	0.998	D	0.68765	0.96	T	0.73036	-0.4109	9	0.87932	D	0	.	7.7327	0.28796	0.0:0.4583:0.0:0.5417	.	433	P17032	ZN37A_HUMAN	Q	433	ENSP00000329141:H433Q;ENSP00000354377:H433Q	ENSP00000329141:H433Q	H	+	3	2	ZNF37A	38447384	0.760000	0.28428	0.933000	0.37362	0.889000	0.51656	-0.284000	0.08422	-0.544000	0.06232	0.591000	0.81541	CAC		0.383	ZNF37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047624.2	NM_003421	
ANK3	288	broad.mit.edu	37	10	61831909	61831909	+	Silent	SNP	G	G	A	rs370563122		TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr10:61831909G>A	ENST00000280772.2	-	37	8921	c.8730C>T	c.(8728-8730)aaC>aaT	p.N2910N	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2910					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						AGAGAGAGCCGTTTGTTAACA	0.378													G|||	0	0.0	0.0	0.0	5008	,	,		18768	0.0		0.0	False		,,,				2504	0.0					uc001jky.2																			0				skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						c.(8728-8730)AAC>AAT		ankyrin 3 isoform 1		G	,,,	0,4406		0,0,2203	52.0	53.0	52.0		,,,8730	3.3	1.0	10		52	1,8599	1.2+/-3.3	0,1,4299	no	intron,intron,intron,coding-synonymous	ANK3	NM_001149.3,NM_001204403.1,NM_001204404.1,NM_020987.3	,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,	,,,2910/4378	61831909	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61831909G>A	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.8730C>T	10.37:g.61831909G>A						ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron	p.N2910N	NM_020987	NP_066267	Q12955	ANK3_HUMAN			37	8922	-			2910					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Silent	SNP	ENST00000280772.2	37	c.8730C>T	CCDS7258.1																																																																																				0.378	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987	
OR4C15	81309	broad.mit.edu	37	11	55322828	55322828	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr11:55322828A>T	ENST00000314644.2	+	1	1046	c.1046A>T	c.(1045-1047)cAg>cTg	p.Q349L		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	295						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						GAAGTAAAACAGGCCATGAGG	0.328										HNSCC(20;0.049)																												uc010rig.1																			0				ovary(1)|skin(1)	2						c.(1045-1047)CAG>CTG		olfactory receptor, family 4, subfamily C,							78.0	77.0	77.0					11																	55322828		2201	4296	6497	SO:0001583	missense	81309				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55322828A>T	BK004319	CCDS31501.1	11q11	2012-08-09			ENSG00000181939	ENSG00000181939		"""GPCR / Class A : Olfactory receptors"""	15171	protein-coding gene	gene with protein product							Standard	NM_001001920		Approved		uc010rig.2	Q8NGM1	OTTHUMG00000166714	ENST00000314644.2:c.1046A>T	11.37:g.55322828A>T	ENSP00000324958:p.Gln349Leu	HNSCC(20;0.049)					p.Q349L	NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN			1	1046	+			295			Cytoplasmic (Potential).		Q6IFE2	Missense_Mutation	SNP	ENST00000314644.2	37	c.1046A>T	CCDS31501.1	.	.	.	.	.	.	.	.	.	.	A	8.291	0.817724	0.16607	.	.	ENSG00000181939	ENST00000314644	T	0.38077	1.16	5.02	5.02	0.67125	.	.	.	.	.	T	0.26231	0.0640	N	0.25485	0.75	0.21445	N	0.999684	B	0.06786	0.001	B	0.04013	0.001	T	0.11665	-1.0578	9	0.72032	D	0.01	.	8.126	0.30999	0.8208:0.0:0.0:0.1792	.	295	Q8NGM1	OR4CF_HUMAN	L	349	ENSP00000324958:Q349L	ENSP00000324958:Q349L	Q	+	2	0	OR4C15	55079404	0.000000	0.05858	0.817000	0.32601	0.022000	0.10575	-0.796000	0.04575	2.107000	0.64212	0.317000	0.21355	CAG		0.328	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391164.1	NM_001001920	
KRTAP5-10	387273	broad.mit.edu	37	11	71277242	71277242	+	Nonstop_Mutation	SNP	A	A	G			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr11:71277242A>G	ENST00000398531.1	+	1	634	c.609A>G	c.(607-609)tgA>tgG	p.*203W	KRTAP5-10_ENST00000376536.4_Intron	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	0						keratin filament (GO:0045095)				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						GTAAGATCTGAGGCTCTGAAC	0.547																																						uc001oqt.1																			0				skin(1)	1						c.(607-609)TGA>TGG		keratin associated protein 5-10							91.0	93.0	92.0					11																	71277242		2200	4293	6493	SO:0001578	stop_lost	387273					keratin filament		g.chr11:71277242A>G	AB126079	CCDS41684.1	11q13.4	2008-02-05			ENSG00000204572	ENSG00000204572		"""Keratin associated proteins"""	23605	protein-coding gene	gene with protein product						15144888	Standard	NM_001012710		Approved	KRTAP5.10	uc001oqt.1	Q6L8G5	OTTHUMG00000057585	ENST00000398531.1:c.609A>G	11.37:g.71277242A>G	ENSP00000381542:p.*203Trpext*23						p.*203W	NM_001012710	NP_001012728	Q6L8G5	KR510_HUMAN			1	634	+			203					B9EHA4	Nonstop_Mutation	SNP	ENST00000398531.1	37	c.609A>G	CCDS41684.1	.	.	.	.	.	.	.	.	.	.	.	0.637	-0.814841	0.02776	.	.	ENSG00000204572	ENST00000398531	.	.	.	1.69	0.535	0.17133	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.2479	0.06803	0.7558:0.0:0.2442:0.0	.	.	.	.	W	203	.	.	X	+	3	0	KRTAP5-10	70954890	0.159000	0.22864	0.119000	0.21687	0.155000	0.21991	0.063000	0.14410	0.139000	0.18822	0.326000	0.21444	TGA		0.547	KRTAP5-10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000127968.2		
BIRC2	329	broad.mit.edu	37	11	102220791	102220791	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr11:102220791G>T	ENST00000227758.2	+	2	1605	c.206G>T	c.(205-207)cGt>cTt	p.R69L	BIRC2_ENST00000530675.1_Missense_Mutation_p.R20L|BIRC2_ENST00000527910.1_3'UTR|BIRC2_ENST00000532672.1_Missense_Mutation_p.R48L	NM_001166.4|NM_001256163.1	NP_001157.1|NP_001243092.1	Q13490	BIRC2_HUMAN	baculoviral IAP repeat containing 2	69					apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein K48-linked ubiquitination (GO:1902524)|positive regulation of protein K63-linked ubiquitination (GO:1902523)|positive regulation of protein monoubiquitination (GO:1902527)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cell cycle (GO:0051726)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|regulation of cysteine-type endopeptidase activity (GO:2000116)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of necroptotic process (GO:0060544)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|regulation of RIG-I signaling pathway (GO:0039535)|regulation of toll-like receptor signaling pathway (GO:0034121)|regulation of transcription, DNA-templated (GO:0006355)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|protein N-terminus binding (GO:0047485)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0144)		AGTCTTGCTCGTGCTGGTTTT	0.423																																						uc001pgy.2																			0				ovary(1)|lung(1)|breast(1)	3						c.(205-207)CGT>CTT		baculoviral IAP repeat-containing protein 2							109.0	107.0	107.0					11																	102220791		2203	4299	6502	SO:0001583	missense	329				cell surface receptor linked signaling pathway|cellular component disassembly involved in apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	CD40 receptor complex|cytosol|internal side of plasma membrane	protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:102220791G>T	L49431	CCDS8316.1, CCDS58169.1	11q22	2011-01-25	2011-01-25		ENSG00000110330	ENSG00000110330		"""Baculoviral IAP repeat containing"", ""RING-type (C3HC4) zinc fingers"""	590	protein-coding gene	gene with protein product	"""NFR2-TRAF signalling complex protein"", ""apoptosis inhibitor 1"""	601712	"""baculoviral IAP repeat-containing 2"""	API1		8552191, 8548810	Standard	NM_001166		Approved	cIAP1, hiap-2, MIHB, RNF48, c-IAP1	uc010ruq.3	Q13490	OTTHUMG00000167325	ENST00000227758.2:c.206G>T	11.37:g.102220791G>T	ENSP00000227758:p.Arg69Leu					BIRC2_uc010ruq.1_Missense_Mutation_p.R20L|BIRC2_uc010rur.1_Missense_Mutation_p.R69L	p.R69L	NM_001166	NP_001157	Q13490	BIRC2_HUMAN	Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0144)	2	1605	+	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	69			BIR 1.		B4E026|Q16516|Q4TTG0	Missense_Mutation	SNP	ENST00000227758.2	37	c.206G>T	CCDS8316.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.073877	0.76415	.	.	ENSG00000110330	ENST00000530675;ENST00000227758;ENST00000541741;ENST00000532672;ENST00000527465	T;T;T;T	0.04049	3.72;3.72;3.72;3.72	5.65	5.65	0.86999	Baculoviral inhibition of apoptosis protein repeat (5);	0.137530	0.64402	D	0.000004	T	0.17408	0.0418	M	0.64997	1.995	0.40657	D	0.982098	D	0.76494	0.999	D	0.77557	0.99	T	0.00013	-1.2421	10	0.72032	D	0.01	-2.0659	11.812	0.52188	0.0793:0.0:0.9207:0.0	.	69	Q13490	BIRC2_HUMAN	L	20;69;69;48;48	ENSP00000431723:R20L;ENSP00000227758:R69L;ENSP00000434979:R48L;ENSP00000434708:R48L	ENSP00000227758:R69L	R	+	2	0	BIRC2	101726001	0.120000	0.22244	0.998000	0.56505	0.997000	0.91878	1.976000	0.40579	2.941000	0.99782	0.655000	0.94253	CGT		0.423	BIRC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394170.1	NM_001166	
KLRC3	3823	broad.mit.edu	37	12	10573038	10573038	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr12:10573038T>C	ENST00000396439.2	-	1	156	c.112A>G	c.(112-114)Ata>Gta	p.I38V	KLRC3_ENST00000381903.2_Missense_Mutation_p.I38V|KLRC3_ENST00000381904.2_Missense_Mutation_p.I38V|NKG2-E_ENST00000539033.1_Intron	NM_002261.2	NP_002252.2	Q07444	NKG2E_HUMAN	killer cell lectin-like receptor subfamily C, member 3	38					cellular defense response (GO:0006968)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						ACTTGGAATATTTCCTGTTCG	0.378																																						uc001qyf.2																			0				ovary(2)|skin(1)	3						c.(112-114)ATA>GTA		killer cell lectin-like receptor subfamily C,							160.0	164.0	163.0					12																	10573038		2203	4300	6503	SO:0001583	missense	3823				cellular defense response	integral to membrane	sugar binding|transmembrane receptor activity	g.chr12:10573038T>C	L14542	CCDS31744.1, CCDS41755.1	12p13	2008-08-05			ENSG00000205810	ENSG00000205810		"""Killer cell lectin-like receptors"""	6376	protein-coding gene	gene with protein product		602892				9598306	Standard	NM_002261		Approved	NKG2-E	uc001qyi.1	Q07444	OTTHUMG00000167149	ENST00000396439.2:c.112A>G	12.37:g.10573038T>C	ENSP00000379716:p.Ile38Val					KLRC3_uc001qyh.2_Intron|KLRC3_uc001qyi.1_Missense_Mutation_p.I38V|KLRC3_uc010shc.1_Missense_Mutation_p.I38V|KLRC3_uc010shd.1_Missense_Mutation_p.I38V	p.I38V	NM_002261	NP_002252	Q07444	NKG2E_HUMAN			1	157	-			38			Cytoplasmic (Potential).		Q8WXA4|Q96RL0|Q9UP04	Missense_Mutation	SNP	ENST00000396439.2	37	c.112A>G	CCDS41755.1	.	.	.	.	.	.	.	.	.	.	t	10.98	1.504393	0.26949	.	.	ENSG00000205810	ENST00000396439;ENST00000381904;ENST00000381903	T;T;T	0.05717	3.4;3.4;3.4	2.55	2.55	0.30701	.	0.108809	0.41500	D	0.000870	T	0.13114	0.0318	L	0.43646	1.37	0.09310	N	1	D;D	0.63880	0.993;0.983	D;D	0.74023	0.925;0.982	T	0.03773	-1.1005	10	0.37606	T	0.19	.	6.962	0.24603	0.0:0.0:0.0:1.0	.	38;38	Q07444-2;Q07444	.;NKG2E_HUMAN	V	38	ENSP00000379716:I38V;ENSP00000371329:I38V;ENSP00000371328:I38V	ENSP00000371328:I38V	I	-	1	0	KLRC3	10464305	0.003000	0.15002	0.014000	0.15608	0.006000	0.05464	1.218000	0.32467	1.419000	0.47118	0.477000	0.44152	ATA		0.378	KLRC3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000393471.1	NM_002261	
KLRC3	3823	broad.mit.edu	37	12	10588474	10588474	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr12:10588474T>C	ENST00000539033.1	-	1	126	c.112A>G	c.(112-114)Ata>Gta	p.I38V	KLRC2_ENST00000536833.2_Intron|KLRC2_ENST00000381901.1_Missense_Mutation_p.I38V|KLRC2_ENST00000381902.2_Missense_Mutation_p.I38V																							ACTTGGAATATTTCCTGTTCG	0.383																																						uc001qyh.2																			0				ovary(2)|skin(1)	3						c.(112-114)ATA>GTA		killer cell lectin-like receptor subfamily C,							167.0	182.0	177.0					12																	10588474		2203	4300	6503	SO:0001583	missense	3823				cellular defense response	integral to membrane	sugar binding|transmembrane receptor activity	g.chr12:10588474T>C																												ENST00000539033.1:c.112A>G	12.37:g.10588474T>C	ENSP00000437563:p.Ile38Val					KLRC2_uc010she.1_Missense_Mutation_p.I38V|KLRC2_uc001qyk.2_Missense_Mutation_p.I38V	p.I38V	NM_002261	NP_002252	Q07444	NKG2E_HUMAN			1	119	-			38			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000539033.1	37	c.112A>G		.	.	.	.	.	.	.	.	.	.	T	10.90	1.480789	0.26598	.	.	ENSG00000255641;ENSG00000205809;ENSG00000205809	ENST00000539033;ENST00000381902;ENST00000381901	T;T;T	0.05717	3.4;3.4;3.4	2.57	1.42	0.22433	.	0.108809	0.41500	D	0.000870	T	0.12987	0.0315	L	0.46670	1.46	0.09310	N	1	D;D;D	0.71674	0.996;0.978;0.998	D;P;D	0.87578	0.995;0.881;0.998	T	0.03202	-1.1061	10	0.87932	D	0	.	3.6765	0.08294	0.0:0.1941:0.0:0.8059	.	24;38;38	Q3KQS7;P26717;F5H6K3	.;NKG2C_HUMAN;.	V	38	ENSP00000437563:I38V;ENSP00000371327:I38V;ENSP00000371326:I38V	ENSP00000371326:I38V	I	-	1	0	KLRC2;RP11-277P12.6	10479741	0.000000	0.05858	0.008000	0.14137	0.091000	0.18340	-0.120000	0.10660	1.157000	0.42530	0.155000	0.16302	ATA		0.383	NKG2-E-001	KNOWN	basic|appris_principal|readthrough_transcript	protein_coding	protein_coding	OTTHUMT00000400274.1		
TMCC3	57458	broad.mit.edu	37	12	94975965	94975965	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr12:94975965A>G	ENST00000261226.4	-	2	559	c.428T>C	c.(427-429)aTc>aCc	p.I143T	TMCC3_ENST00000551457.1_Missense_Mutation_p.I112T	NM_020698.2	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	143						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						ATTCTGCTCGATCTCTCTGAG	0.458																																						uc001tdj.2																			0				ovary(1)|skin(1)	2						c.(427-429)ATC>ACC		transmembrane and coiled-coil domain family 3							93.0	91.0	92.0					12																	94975965		2203	4300	6503	SO:0001583	missense	57458					integral to membrane		g.chr12:94975965A>G	AB032971	CCDS31877.1, CCDS73506.1	12q22	2005-01-21	2005-07-13			ENSG00000057704		"""Transmembrane and coiled-coil domain containing"""	29199	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 3"""			10574461	Standard	XM_005269039		Approved	KIAA1145	uc001tdj.2	Q9ULS5	OTTHUMG00000170225	ENST00000261226.4:c.428T>C	12.37:g.94975965A>G	ENSP00000261226:p.Ile143Thr					TMCC3_uc001tdi.2_Missense_Mutation_p.I112T	p.I143T	NM_020698	NP_065749	Q9ULS5	TMCC3_HUMAN			2	546	-			143			Potential.		Q8IWB2	Missense_Mutation	SNP	ENST00000261226.4	37	c.428T>C	CCDS31877.1	.	.	.	.	.	.	.	.	.	.	A	16.50	3.141780	0.57044	.	.	ENSG00000057704	ENST00000261226;ENST00000551457;ENST00000548918	T;T;T	0.46063	0.88;0.88;0.88	5.74	5.74	0.90152	.	0.386898	0.33534	N	0.004804	T	0.42154	0.1190	N	0.25647	0.755	0.52099	D	0.999949	B	0.30114	0.269	B	0.41571	0.36	T	0.41124	-0.9526	10	0.56958	D	0.05	-14.4732	16.3305	0.83010	1.0:0.0:0.0:0.0	.	143	Q9ULS5	TMCC3_HUMAN	T	143;112;112	ENSP00000261226:I143T;ENSP00000449888:I112T;ENSP00000450078:I112T	ENSP00000261226:I143T	I	-	2	0	TMCC3	93500096	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	5.853000	0.69496	2.317000	0.78254	0.459000	0.35465	ATC		0.458	TMCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408113.1	NM_020698	
DTX1	1840	broad.mit.edu	37	12	113515335	113515335	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr12:113515335T>G	ENST00000257600.3	+	2	869	c.366T>G	c.(364-366)gaT>gaG	p.D122E		NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase	122	WWE 2. {ECO:0000255|PROSITE- ProRule:PRU00248}.				cell surface receptor signaling pathway (GO:0007166)|glial cell differentiation (GO:0010001)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of T cell differentiation (GO:0045581)|Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)|regulation of Notch signaling pathway (GO:0008593)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Notch binding (GO:0005112)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						CGGCCTACGATATGGACATCT	0.622																																						uc001tuk.1																			0				lung(2)|ovary(1)|central_nervous_system(1)	4						c.(364-366)GAT>GAG		deltex homolog 1							102.0	80.0	87.0					12																	113515335		2203	4300	6503	SO:0001583	missense	1840				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	g.chr12:113515335T>G	AF053700	CCDS9164.1	12q24	2014-01-28	2014-01-28			ENSG00000135144			3060	protein-coding gene	gene with protein product		602582	"""deltex homolog 1 (Drosophila)"""			9590294, 12670957	Standard	NM_004416		Approved	hDx-1	uc001tuk.1	Q86Y01	OTTHUMG00000169610	ENST00000257600.3:c.366T>G	12.37:g.113515335T>G	ENSP00000257600:p.Asp122Glu						p.D122E	NM_004416	NP_004407	Q86Y01	DTX1_HUMAN			2	702	+			122			WWE 2.		O60630|Q9BS04	Missense_Mutation	SNP	ENST00000257600.3	37	c.366T>G	CCDS9164.1	.	.	.	.	.	.	.	.	.	.	T	8.577	0.881366	0.17467	.	.	ENSG00000135144	ENST00000257600	T	0.36157	1.27	3.13	2.21	0.28008	WWE domain (2);WWE domain, subgroup (1);	0.133606	0.47455	D	0.000233	T	0.34513	0.0900	L	0.45352	1.415	0.40375	D	0.979381	D	0.59767	0.986	P	0.55923	0.787	T	0.36407	-0.9749	10	0.08179	T	0.78	-11.4703	6.2807	0.21005	0.0:0.7501:0.0:0.2499	.	122	Q86Y01	DTX1_HUMAN	E	122	ENSP00000257600:D122E	ENSP00000257600:D122E	D	+	3	2	DTX1	111999718	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.418000	0.52721	0.496000	0.27904	-0.483000	0.04790	GAT		0.622	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405045.2		
SACS	26278	broad.mit.edu	37	13	23928995	23928995	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr13:23928995A>G	ENST00000382292.3	-	7	2029	c.1756T>C	c.(1756-1758)Tac>Cac	p.Y586H	SACS_ENST00000382298.3_Missense_Mutation_p.Y586H|SACS_ENST00000402364.1_5'UTR|SACS_ENST00000476776.1_5'UTR			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	586					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GTTTTTGTGTATTCTAAATTT	0.468																																						uc001uon.2																			0				ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(1756-1758)TAC>CAC		sacsin							95.0	90.0	92.0					13																	23928995		2203	4300	6503	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23928995A>G	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.1756T>C	13.37:g.23928995A>G	ENSP00000371729:p.Tyr586His					SACS_uc001uoo.2_Missense_Mutation_p.Y439H|SACS_uc001uop.1_Missense_Mutation_p.Y373H|SACS_uc001uoq.1_Missense_Mutation_p.Y439H	p.Y586H	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	8	2345	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	586					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.1756T>C	CCDS9300.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	4.773|4.773	0.143781|0.143781	0.09134|0.09134	.|.	.|.	ENSG00000151835|ENSG00000151835	ENST00000455470|ENST00000382292;ENST00000382298;ENST00000423156	.|T;T;T	.|0.16597	.|2.33;2.33;2.33	5.74|5.74	1.67|1.67	0.24075|0.24075	.|.	.|0.754999	.|0.13417	.|N	.|0.389451	T|T	0.11793|0.11793	0.0287|0.0287	L|L	0.44542|0.44542	1.39|1.39	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.02656	.|0.0;0.0;0.0	.|B;B;B	.|0.12837	.|0.004;0.008;0.001	T|T	0.36383|0.36383	-0.9750|-0.9750	5|10	.|0.16420	.|T	.|0.52	.|.	4.5887|4.5887	0.12295|0.12295	0.6825:0.0:0.1796:0.1379|0.6825:0.0:0.1796:0.1379	.|.	.|485;373;586	.|B2REB1;E9PAL4;Q9NZJ4	.|.;.;SACS_HUMAN	T|H	485|586;586;210	.|ENSP00000371729:Y586H;ENSP00000371735:Y586H;ENSP00000390925:Y210H	.|ENSP00000371729:Y586H	I|Y	-|-	2|1	0|0	SACS|SACS	22826995|22826995	0.784000|0.784000	0.28713|0.28713	0.001000|0.001000	0.08648|0.08648	0.915000|0.915000	0.54546|0.54546	1.912000|1.912000	0.39946|0.39946	0.490000|0.490000	0.27771|0.27771	0.459000|0.459000	0.35465|0.35465	ATA|TAC		0.468	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363	
UBE3A	7337	broad.mit.edu	37	15	25616938	25616938	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr15:25616938T>C	ENST00000397954.2	-	4	391	c.392A>G	c.(391-393)gAg>gGg	p.E131G	UBE3A_ENST00000438097.1_Missense_Mutation_p.E108G|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000232165.3_Missense_Mutation_p.E128G|UBE3A_ENST00000428984.2_Missense_Mutation_p.E108G|UBE3A_ENST00000566215.1_Missense_Mutation_p.E108G			Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	131					androgen receptor signaling pathway (GO:0030521)|brain development (GO:0007420)|ovarian follicle development (GO:0001541)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|proteolysis (GO:0006508)|sperm entry (GO:0035037)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		ATATACCTTCTCTTCTGTTAA	0.308																																						uc001zaq.2																			0				upper_aerodigestive_tract(1)|ovary(1)|breast(1)	3						c.(391-393)GAG>GGG		ubiquitin protein ligase E3A isoform 2							33.0	35.0	34.0					15																	25616938		2200	4300	6500	SO:0001583	missense	7337				brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	g.chr15:25616938T>C	AF002224	CCDS32177.1, CCDS45191.1, CCDS45192.1	15q11.2	2014-09-17	2008-07-31		ENSG00000114062	ENSG00000114062	6.3.2.19		12496	protein-coding gene	gene with protein product	"""Angelman syndrome"""	601623	"""human papilloma virus E6-associated protein"""	EPVE6AP, HPVE6A		8221889	Standard	NM_130838		Approved	AS, ANCR, E6-AP, FLJ26981	uc001zas.3	Q05086		ENST00000397954.2:c.392A>G	15.37:g.25616938T>C	ENSP00000381045:p.Glu131Gly					uc001zae.2_Intron|UBE3A_uc001zar.2_Missense_Mutation_p.E108G|UBE3A_uc001zas.2_Missense_Mutation_p.E128G|UBE3A_uc001zat.2_Missense_Mutation_p.E108G	p.E131G	NM_000462	NP_000453	Q05086	UBE3A_HUMAN		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)	4	392	-		all_cancers(20;3.47e-21)|Breast(32;0.00123)	131					A8K8Z9|P78355|Q93066|Q9UEP4|Q9UEP5|Q9UEP6|Q9UEP7|Q9UEP8|Q9UEP9	Missense_Mutation	SNP	ENST00000397954.2	37	c.392A>G	CCDS45192.1	.	.	.	.	.	.	.	.	.	.	T	12.69	2.014805	0.35511	.	.	ENSG00000114062	ENST00000232165;ENST00000356465;ENST00000397954;ENST00000438097;ENST00000428984	T;T;T;T	0.20738	2.05;2.05;2.08;2.08	5.84	5.84	0.93424	.	0.244896	0.47455	D	0.000223	T	0.15998	0.0385	N	0.24115	0.695	0.44702	D	0.997696	B;B	0.20887	0.007;0.049	B;B	0.16289	0.015;0.014	T	0.07158	-1.0787	10	0.23302	T	0.38	.	16.2233	0.82274	0.0:0.0:0.0:1.0	.	128;131	Q05086-3;Q05086	.;UBE3A_HUMAN	G	128;128;131;108;108	ENSP00000232165:E128G;ENSP00000381045:E131G;ENSP00000411258:E108G;ENSP00000401265:E108G	ENSP00000232165:E128G	E	-	2	0	UBE3A	23168031	1.000000	0.71417	0.929000	0.37066	0.995000	0.86356	6.291000	0.72719	2.243000	0.73865	0.482000	0.46254	GAG		0.308	UBE3A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000434203.1	NM_000462	
NPIPA5	100288332	broad.mit.edu	37	16	15457701	15457701	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr16:15457701G>A	ENST00000360151.4	-	8	867	c.868C>T	c.(868-870)Ctc>Ttc	p.L290F		NM_001277325.1	NP_001264254.1	E9PKD4	NPIA5_HUMAN	nuclear pore complex interacting protein family, member A5	290	Pro-rich.							p.L290F(2)									AGGGGAGTGAGCAGACACTCG	0.562																																						uc010bvf.1																			2	Substitution - Missense(2)		kidney(2)								c.(811-813)GCT>GTT		RecName: Full=NPIP-like protein 1;																																				SO:0001583	missense	0							g.chr16:15457701G>A		CCDS59264.1	16p13.11	2013-06-11			ENSG00000183793	ENSG00000183793			41980	protein-coding gene	gene with protein product							Standard	NM_001277325		Approved			E9PKD4	OTTHUMG00000166305	ENST00000360151.4:c.868C>T	16.37:g.15457701G>A	ENSP00000433597:p.Leu290Phe						p.A271V							9	812	-								Q0P618	Missense_Mutation	SNP	ENST00000360151.4	37	c.812C>T	CCDS59264.1	.	.	.	.	.	.	.	.	.	.	.	4.044	0.005714	0.07866	.	.	ENSG00000183793	ENST00000360151	T	0.56275	0.47	.	.	.	.	.	.	.	.	T	0.52338	0.1728	M	0.62723	1.935	0.09310	N	1	.	.	.	.	.	.	T	0.44742	-0.9308	4	0.36615	T	0.2	.	.	.	.	.	.	.	.	F	290	ENSP00000433597:L290F	ENSP00000433597:L290F	L	-	1	0	RP11-82O18.1	15365202	.	.	.	.	.	.	.	.	.	.	.	.	CTC		0.562	NPIPA5-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389069.1		
MIS12	79003	broad.mit.edu	37	17	5392643	5392643	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr17:5392643A>G	ENST00000381165.3	+	3	1014	c.461A>G	c.(460-462)cAg>cGg	p.Q154R	DERL2_ENST00000571968.1_5'Flank|MIS12_ENST00000573759.1_Missense_Mutation_p.Q154R	NM_001258217.1|NM_001258219.1|NM_001258220.1|NM_024039.2	NP_001245146.1|NP_001245148.1|NP_001245149.1|NP_076944.1			MIS12 kinetochore complex component											central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(2)	12						AAACTCAAACAGACGTTGACT	0.393																																						uc002gcd.2																			0					0						c.(460-462)CAG>CGG		MIS12 homolog							180.0	176.0	177.0					17																	5392643		2203	4300	6503	SO:0001583	missense	79003				cell division|chromosome segregation|kinetochore assembly|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding	g.chr17:5392643A>G	AL136906	CCDS11074.1	17p13.3	2013-07-03	2013-07-03		ENSG00000167842	ENSG00000167842			24967	protein-coding gene	gene with protein product		609178	"""MIS12, MIND kinetochore complex component, homolog (yeast)"", ""MIS12, MIND kinetochore complex component, homolog (S. pombe)"""			11230166, 12515822	Standard	NM_001258217		Approved	MGC2488, hMIS12, KNTC2AP, MTW1	uc031qyj.1	Q9H081	OTTHUMG00000102042	ENST00000381165.3:c.461A>G	17.37:g.5392643A>G	ENSP00000370557:p.Gln154Arg					MIS12_uc002gce.2_Missense_Mutation_p.Q154R	p.Q154R	NM_024039	NP_076944	Q9H081	MIS12_HUMAN			2	790	+			154			Potential.			Missense_Mutation	SNP	ENST00000381165.3	37	c.461A>G	CCDS11074.1	.	.	.	.	.	.	.	.	.	.	A	9.391	1.075483	0.20227	.	.	ENSG00000167842	ENST00000381165	T	0.42131	0.98	5.81	4.73	0.59995	.	0.433012	0.27039	N	0.021236	T	0.27731	0.0682	N	0.22421	0.69	0.21445	N	0.999686	B	0.02656	0.0	B	0.06405	0.002	T	0.15178	-1.0446	10	0.21014	T	0.42	-0.4481	11.1818	0.48633	0.9283:0.0:0.0717:0.0	.	154	Q9H081	MIS12_HUMAN	R	154	ENSP00000370557:Q154R	ENSP00000370557:Q154R	Q	+	2	0	MIS12	5333367	1.000000	0.71417	0.994000	0.49952	0.968000	0.65278	3.983000	0.56916	1.019000	0.39547	0.482000	0.46254	CAG		0.393	MIS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219827.1	NM_024039	
MYH2	4620	broad.mit.edu	37	17	10430104	10430104	+	Silent	SNP	G	G	A			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr17:10430104G>A	ENST00000245503.5	-	30	4383	c.3999C>T	c.(3997-3999)aaC>aaT	p.N1333N	MYH2_ENST00000397183.2_Silent_p.N1333N|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000532183.2_Intron|RP11-799N11.1_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1333					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.N1333N(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GCGCCAGGGCGTTCTTGGCCT	0.498																																						uc010coi.2																			1	Substitution - coding silent(1)		prostate(1)	ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						c.(3997-3999)AAC>AAT		myosin heavy chain IIa							80.0	78.0	79.0					17																	10430104		2203	4300	6503	SO:0001819	synonymous_variant	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10430104G>A		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.3999C>T	17.37:g.10430104G>A						uc002gml.1_Intron|MYH2_uc002gmp.3_Silent_p.N1333N|MYH2_uc010coj.2_Intron	p.N1333N	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN			30	4127	-			1333			Potential.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Silent	SNP	ENST00000245503.5	37	c.3999C>T	CCDS11156.1																																																																																				0.498	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534	
MALT1	10892	broad.mit.edu	37	18	56378165	56378165	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr18:56378165A>G	ENST00000348428.3	+	7	1196	c.938A>G	c.(937-939)gAg>gGg	p.E313G	MALT1_ENST00000345724.3_Intron|RP11-126O1.4_ENST00000588835.1_RNA	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma translocation gene 1	313					activation of NF-kappaB-inducing kinase activity (GO:0007250)|B-1 B cell differentiation (GO:0001923)|defense response (GO:0006952)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|nuclear export (GO:0051168)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|protein oligomerization (GO:0051259)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of T cell receptor signaling pathway (GO:0050856)|response to fungus (GO:0009620)|response to molecule of bacterial origin (GO:0002237)|T cell proliferation (GO:0042098)|T cell receptor signaling pathway (GO:0050852)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	cysteine-type endopeptidase activity (GO:0004197)|peptidase activity (GO:0008233)|protein self-association (GO:0043621)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						AGAACAGATGAGGCAGTGGAG	0.388			T	BIRC3	MALT																																	uc002lhm.1				Dom	yes		18	18q21	10892	T	mucosa associated lymphoid tissue lymphoma translocation gene 1			L	BIRC3		MALT		0				ovary(2)|lung(1)|central_nervous_system(1)	4						c.(937-939)GAG>GGG		mucosa associated lymphoid tissue lymphoma							108.0	99.0	103.0					18																	56378165		2203	4300	6503	SO:0001583	missense	10892				activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity	g.chr18:56378165A>G		CCDS11967.1, CCDS11968.1	18q21	2013-01-11			ENSG00000172175	ENSG00000172175		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6819	protein-coding gene	gene with protein product	"""paracaspase"""	604860		MLT		10339464, 10406266, 10523859	Standard	NM_006785		Approved		uc002lhm.1	Q9UDY8	OTTHUMG00000132761	ENST00000348428.3:c.938A>G	18.37:g.56378165A>G	ENSP00000319279:p.Glu313Gly					MALT1_uc002lhn.1_Intron	p.E313G	NM_006785	NP_006776	Q9UDY8	MALT1_HUMAN			7	1196	+			313					Q9NTB7|Q9ULX4	Missense_Mutation	SNP	ENST00000348428.3	37	c.938A>G	CCDS11967.1	.	.	.	.	.	.	.	.	.	.	A	11.24	1.581581	0.28180	.	.	ENSG00000172175	ENST00000348428	T	0.12255	2.7	5.29	1.46	0.22682	.	0.521153	0.21311	N	0.076621	T	0.06188	0.0160	N	0.19112	0.55	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35076	-0.9803	10	0.23891	T	0.37	.	1.0931	0.01667	0.5224:0.1575:0.1685:0.1515	.	313	Q9UDY8	MALT1_HUMAN	G	313	ENSP00000319279:E313G	ENSP00000319279:E313G	E	+	2	0	MALT1	54529145	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.029000	0.30140	0.359000	0.24239	0.528000	0.53228	GAG		0.388	MALT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256132.2		
ZNF844	284391	broad.mit.edu	37	19	12187443	12187443	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr19:12187443C>G	ENST00000439326.3	+	4	1683	c.1508C>G	c.(1507-1509)cCt>cGt	p.P503R	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	503					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P503R(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						GAGAGAAACCCTATGAGTGTA	0.413																																						uc002mtb.2																			1	Substitution - Missense(1)		kidney(1)		0						c.(1507-1509)CCT>CGT		zinc finger protein 844							81.0	74.0	76.0					19																	12187443		692	1591	2283	SO:0001583	missense	284391				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12187443C>G	AL832297	CCDS45985.1	19p13.2	2013-01-08			ENSG00000223547	ENSG00000223547		"""Zinc fingers, C2H2-type"", ""-"""	25932	protein-coding gene	gene with protein product							Standard	NM_001136501		Approved	FLJ14959	uc002mtb.2	Q08AG5	OTTHUMG00000156405	ENST00000439326.3:c.1508C>G	19.37:g.12187443C>G	ENSP00000392024:p.Pro503Arg					ZNF844_uc010dym.1_Missense_Mutation_p.P346R	p.P503R	NM_001136501	NP_001129973	Q08AG5	ZN844_HUMAN			4	1651	+			503					Q5JPI8	Missense_Mutation	SNP	ENST00000439326.3	37	c.1508C>G	CCDS45985.1	.	.	.	.	.	.	.	.	.	.	C	12.28	1.889734	0.33348	.	.	ENSG00000223547	ENST00000439326;ENST00000541708	T	0.06142	3.34	2.75	-4.15	0.03881	.	.	.	.	.	T	0.07593	0.0191	M	0.76328	2.33	0.25823	N	0.984265	B	0.18741	0.03	B	0.12837	0.008	T	0.38950	-0.9637	9	0.72032	D	0.01	.	4.1302	0.10146	0.2954:0.1754:0.0:0.5292	.	503	Q08AG5	ZN844_HUMAN	R	503	ENSP00000392024:P503R	ENSP00000392024:P503R	P	+	2	0	ZNF844	12048443	0.000000	0.05858	0.005000	0.12908	0.063000	0.16089	-4.308000	0.00255	-0.695000	0.05105	0.411000	0.27672	CCT		0.413	ZNF844-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344086.2		
ZNF28	7576	broad.mit.edu	37	19	53303147	53303147	+	Missense_Mutation	SNP	C	C	T	rs146037495		TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr19:53303147C>T	ENST00000457749.2	-	4	2070	c.1951G>A	c.(1951-1953)Gta>Ata	p.V651I	ZNF28_ENST00000438150.2_Missense_Mutation_p.V598I|ZNF28_ENST00000414252.2_Missense_Mutation_p.V598I|ZNF28_ENST00000360272.4_Missense_Mutation_p.V598I	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	651					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		TGATGGTATACGAGGGATGAC	0.423																																						uc002qad.2																			0				skin(1)	1						c.(1951-1953)GTA>ATA		zinc finger protein 28							199.0	189.0	192.0					19																	53303147		2203	4300	6503	SO:0001583	missense	7576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53303147C>T	X52355	CCDS33093.1, CCDS33093.2	19q13.41	2013-01-08	2006-05-10		ENSG00000198538	ENSG00000198538		"""Zinc fingers, C2H2-type"", ""-"""	13073	protein-coding gene	gene with protein product			"""zinc finger protein 28 (KOX 24)"""				Standard	NR_036599		Approved	KOX24, DKFZp781D0275	uc002qad.3	P17035	OTTHUMG00000154564	ENST00000457749.2:c.1951G>A	19.37:g.53303147C>T	ENSP00000397693:p.Val651Ile					ZNF28_uc002qac.2_Missense_Mutation_p.V598I|ZNF28_uc010eqe.2_Missense_Mutation_p.V597I	p.V651I	NM_006969	NP_008900	P17035	ZNF28_HUMAN		GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)	4	2071	-			651			C2H2-type 16.		A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56	Missense_Mutation	SNP	ENST00000457749.2	37	c.1951G>A	CCDS33093.2	.	.	.	.	.	.	.	.	.	.	-	7.235	0.600132	0.13939	.	.	ENSG00000198538	ENST00000438150;ENST00000457749;ENST00000360272;ENST00000414252	T;T;T;T	0.35605	1.3;1.3;1.3;1.3	1.81	-3.62	0.04543	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12646	0.0307	N	0.05441	-0.05	0.09310	N	1	P	0.42620	0.785	B	0.37422	0.249	T	0.17349	-1.0372	9	0.15066	T	0.55	.	4.1854	0.10395	0.1542:0.4825:0.0:0.3633	.	651	P17035	ZNF28_HUMAN	I	598;651;598;598	ENSP00000412143:V598I;ENSP00000397693:V651I;ENSP00000353410:V598I;ENSP00000444965:V598I	ENSP00000353410:V598I	V	-	1	0	ZNF28	57994959	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.063000	0.00302	-1.704000	0.01407	-0.708000	0.03648	GTA		0.423	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336038.2	NM_006969	
GFPT1	2673	broad.mit.edu	37	2	69583664	69583664	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr2:69583664T>C	ENST00000357308.4	-	7	747	c.569A>G	c.(568-570)aAa>aGa	p.K190R	GFPT1_ENST00000361060.5_Missense_Mutation_p.K190R	NM_001244710.1	NP_001231639.1	Q06210	GFPT1_HUMAN	glutamine--fructose-6-phosphate transaminase 1	190	Glutamine amidotransferase type-2. {ECO:0000255|PROSITE-ProRule:PRU00609}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|circadian regulation of gene expression (GO:0032922)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|endoplasmic reticulum unfolded protein response (GO:0030968)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glucosamine biosynthetic process (GO:0006042)|glutamine metabolic process (GO:0006541)|negative regulation of glycogen biosynthetic process (GO:0045719)|post-translational protein modification (GO:0043687)|protein homotetramerization (GO:0051289)|protein N-linked glycosylation via asparagine (GO:0018279)|response to sucrose (GO:0009744)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)			endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						ATGAACACTTTTAAACACAAG	0.358																																						uc002sfh.2																			0				skin(1)	1						c.(568-570)AAA>AGA		glucosamine-fructose-6-phosphate							131.0	132.0	132.0					2																	69583664		2203	4300	6503	SO:0001583	missense	2673				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding	g.chr2:69583664T>C		CCDS33216.1, CCDS58713.1	2p13	2014-09-17	2010-05-11		ENSG00000198380	ENSG00000198380	2.6.1.16		4241	protein-coding gene	gene with protein product		138292	"""glutamine-fructose-6-phosphate transaminase 1"""	GFPT		1460020	Standard	NM_002056		Approved	GFAT, GFA, GFAT1	uc002sfi.2	Q06210	OTTHUMG00000152666	ENST00000357308.4:c.569A>G	2.37:g.69583664T>C	ENSP00000349860:p.Lys190Arg					GFPT1_uc002sfi.1_Missense_Mutation_p.K32R	p.K190R	NM_002056	NP_002047	Q06210	GFPT1_HUMAN			7	748	-			190			Glutamine amidotransferase type-2.		Q53QE6|Q9BXF8	Missense_Mutation	SNP	ENST00000357308.4	37	c.569A>G	CCDS58713.1	.	.	.	.	.	.	.	.	.	.	T	27.7	4.853685	0.91355	.	.	ENSG00000198380	ENST00000357308;ENST00000361060	T;T	0.76316	-1.01;-1.01	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	D	0.89037	0.6601	M	0.87328	2.875	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90440	0.4431	10	0.59425	D	0.04	-21.529	14.2874	0.66254	0.0:0.0:0.0:1.0	.	190	Q06210-2	.	R	190	ENSP00000349860:K190R;ENSP00000354347:K190R	ENSP00000349860:K190R	K	-	2	0	GFPT1	69437168	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	7.730000	0.84881	2.240000	0.73641	0.533000	0.62120	AAA		0.358	GFPT1-201	KNOWN	basic|CCDS	protein_coding	protein_coding			
SCRN3	79634	broad.mit.edu	37	2	175287615	175287615	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr2:175287615A>G	ENST00000272732.6	+	6	839	c.757A>G	c.(757-759)Aat>Gat	p.N253D	SCRN3_ENST00000548921.1_3'UTR|SCRN3_ENST00000409673.3_Missense_Mutation_p.N246D	NM_001193528.1|NM_024583.4	NP_001180457.1|NP_078859.2	Q0VDG4	SCRN3_HUMAN	secernin 3	253							dipeptidase activity (GO:0016805)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|urinary_tract(3)	13			OV - Ovarian serous cystadenocarcinoma(117;0.229)			TTCTCTAGGAAATATAACTTT	0.318																																						uc002uiq.2																			0				ovary(1)	1						c.(757-759)AAT>GAT		secernin 3							47.0	47.0	47.0					2																	175287615		2203	4300	6503	SO:0001583	missense	79634				proteolysis		dipeptidase activity	g.chr2:175287615A>G	AF279776	CCDS2258.1, CCDS54420.1	2q31	2008-02-05			ENSG00000144306	ENSG00000144306			30382	protein-coding gene	gene with protein product		614967				12221138	Standard	NM_024583		Approved	FLJ23142	uc002uiq.3	Q0VDG4	OTTHUMG00000132332	ENST00000272732.6:c.757A>G	2.37:g.175287615A>G	ENSP00000272732:p.Asn253Asp					SCRN3_uc010zen.1_Missense_Mutation_p.N246D|SCRN3_uc010zeo.1_Missense_Mutation_p.N51D|SCRN3_uc002uis.2_5'UTR	p.N253D	NM_024583	NP_078859	Q0VDG4	SCRN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.229)		6	845	+			253					B4DI11|C9JPC1|D3DPE0|Q7L1C5|Q9H5R5	Missense_Mutation	SNP	ENST00000272732.6	37	c.757A>G	CCDS2258.1	.	.	.	.	.	.	.	.	.	.	A	10.67	1.416751	0.25552	.	.	ENSG00000144306	ENST00000409673;ENST00000272732	T;T	0.08458	3.09;3.09	5.4	4.26	0.50523	.	0.369457	0.32802	N	0.005628	T	0.05914	0.0154	L	0.45051	1.395	0.31106	N	0.710514	B;B	0.33318	0.408;0.351	B;B	0.32090	0.14;0.089	T	0.10268	-1.0637	10	0.22109	T	0.4	-8.7377	1.9701	0.03404	0.5811:0.1455:0.1337:0.1397	.	246;253	B4DI11;Q0VDG4	.;SCRN3_HUMAN	D	246;253	ENSP00000387142:N246D;ENSP00000272732:N253D	ENSP00000272732:N253D	N	+	1	0	SCRN3	174995861	0.997000	0.39634	1.000000	0.80357	0.676000	0.39594	2.108000	0.41854	2.052000	0.61016	0.459000	0.35465	AAT		0.318	SCRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255451.2	NM_024583	
FRG1B	284802	broad.mit.edu	37	20	29625955	29625955	+	Nonsense_Mutation	SNP	A	A	T			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr20:29625955A>T	ENST00000278882.3	+	5	579	c.199A>T	c.(199-201)Aga>Tga	p.R67*	FRG1B_ENST00000439954.2_Nonsense_Mutation_p.R72*|FRG1B_ENST00000358464.4_Nonsense_Mutation_p.R67*			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	67										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AATTGGACCAAGAGAACAATG	0.338																																						uc010ztl.1																			0					0						c.(109-111)AGA>TGA		Homo sapiens cDNA FLJ32537 fis, clone SMINT2000400, highly similar to Homo sapiens FRG1 mRNA.																																				SO:0001587	stop_gained	284802							g.chr20:29625955A>T			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.199A>T	20.37:g.29625955A>T	ENSP00000278882:p.Arg67*					FRG1B_uc002wvm.1_RNA|FRG1B_uc010ztj.1_RNA|FRG1B_uc010gdr.1_RNA|FRG1B_uc010ztk.1_Intron	p.R37*							2	141	+								C4AME5	Nonsense_Mutation	SNP	ENST00000278882.3	37	c.109A>T		.	.	.	.	.	.	.	.	.	.	a	29.6	5.022161	0.93462	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	.	.	.	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	.	7.3757	0.26827	1.0:0.0:0.0:0.0	.	.	.	.	X	67;72;67	.	ENSP00000278882:R67X	R	+	1	2	FRG1B	28239616	1.000000	0.71417	1.000000	0.80357	0.120000	0.20174	3.670000	0.54569	1.028000	0.39785	0.155000	0.16302	AGA		0.338	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579	
QRICH1	54870	broad.mit.edu	37	3	49094721	49094721	+	Silent	SNP	A	A	G			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr3:49094721A>G	ENST00000395443.2	-	3	1384	c.912T>C	c.(910-912)ccT>ccC	p.P304P	QRICH1_ENST00000424300.1_Silent_p.P304P|QRICH1_ENST00000357496.2_Silent_p.P304P|QRICH1_ENST00000479449.1_Intron	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	304	Gln-rich.					nucleus (GO:0005634)				breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		TTTCTCCTGTAGGGCTAGTAA	0.557																																						uc010hkq.2																			0				ovary(1)	1						c.(910-912)CCT>CCC		glutamine-rich 1							65.0	57.0	60.0					3																	49094721		2203	4300	6503	SO:0001819	synonymous_variant	54870							g.chr3:49094721A>G		CCDS2787.1	3p21.31	2011-06-03			ENSG00000198218	ENSG00000198218			24713	protein-coding gene	gene with protein product						12477932	Standard	NM_017730		Approved	FLJ20259	uc003cvv.3	Q2TAL8	OTTHUMG00000156772	ENST00000395443.2:c.912T>C	3.37:g.49094721A>G						QRICH1_uc003cvu.2_Silent_p.P304P|QRICH1_uc003cvv.2_Silent_p.P304P	p.P304P	NM_198880	NP_942581	Q2TAL8	QRIC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	4	1208	-			304			Gln-rich.		Q4G0F7|Q7L621|Q8TEA5	Silent	SNP	ENST00000395443.2	37	c.912T>C	CCDS2787.1																																																																																				0.557	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345669.1	NM_017730	
N4BP2	55728	broad.mit.edu	37	4	40122570	40122570	+	Nonsense_Mutation	SNP	G	G	T			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr4:40122570G>T	ENST00000261435.6	+	9	3255	c.2839G>T	c.(2839-2841)Gga>Tga	p.G947*		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	947					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						CTCCAATCTAGGAAGTTCTGA	0.408																																						uc003guy.3																			0				lung(3)|breast(2)|kidney(2)|ovary(1)	8						c.(2839-2841)GGA>TGA		Nedd4 binding protein 2							73.0	70.0	71.0					4																	40122570		2203	4300	6503	SO:0001587	stop_gained	55728					cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding	g.chr4:40122570G>T	AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"""BCL-3 binding protein"""					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.2839G>T	4.37:g.40122570G>T	ENSP00000261435:p.Gly947*					N4BP2_uc010ifq.2_Nonsense_Mutation_p.G867*|N4BP2_uc010ifr.2_Nonsense_Mutation_p.G867*	p.G947*	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN			9	3177	+			947					A0AVR3|Q9NVK2|Q9P2D4	Nonsense_Mutation	SNP	ENST00000261435.6	37	c.2839G>T	CCDS3457.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.04|15.04	2.715982|2.715982	0.48622|0.48622	.|.	.|.	ENSG00000078177|ENSG00000078177	ENST00000261435;ENST00000381804|ENST00000513269	.|.	.|.	.|.	5.62|5.62	3.91|3.91	0.45181|0.45181	.|.	1.236800|.	0.05187|.	N|.	0.502463|.	.|T	.|0.49490	.|0.1560	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.57911	.|-0.7729	.|3	0.11794|.	T|.	0.64|.	-0.0891|-0.0891	7.7286|7.7286	0.28773|0.28773	0.1627:0.414:0.4233:0.0|0.1627:0.414:0.4233:0.0	.|.	.|.	.|.	.|.	X|M	947;867|593	.|.	ENSP00000261435:G947X|.	G|R	+|+	1|2	0|0	N4BP2|N4BP2	39798965|39798965	0.001000|0.001000	0.12720|0.12720	0.001000|0.001000	0.08648|0.08648	0.002000|0.002000	0.02628|0.02628	0.812000|0.812000	0.27211|0.27211	0.856000|0.856000	0.35383|0.35383	-0.136000|-0.136000	0.14681|0.14681	GGA|AGG		0.408	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2	NM_018177	
LRRC66	339977	broad.mit.edu	37	4	52883712	52883712	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr4:52883712T>C	ENST00000343457.3	-	1	74	c.68A>G	c.(67-69)aAt>aGt	p.N23S		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	23						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						TCTTGATGCATTTGTCATTAT	0.299																																						uc003gzi.2																			0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(67-69)AAT>AGT		leucine rich repeat containing 66							26.0	26.0	26.0					4																	52883712		1799	4066	5865	SO:0001583	missense	339977					integral to membrane		g.chr4:52883712T>C	BC040414	CCDS43229.1	4q12	2008-08-08			ENSG00000188993	ENSG00000188993			34299	protein-coding gene	gene with protein product							Standard	XM_005265739		Approved		uc003gzi.3	Q68CR7	OTTHUMG00000160623	ENST00000343457.3:c.68A>G	4.37:g.52883712T>C	ENSP00000341944:p.Asn23Ser						p.N23S	NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN			1	81	-			23			Helical; (Potential).			Missense_Mutation	SNP	ENST00000343457.3	37	c.68A>G	CCDS43229.1	.	.	.	.	.	.	.	.	.	.	T	4.646	0.120021	0.08881	.	.	ENSG00000188993	ENST00000343457	T	0.28454	1.61	4.7	-3.12	0.05282	.	0.936752	0.08894	N	0.878293	T	0.15696	0.0378	L	0.32530	0.975	0.09310	N	1	B	0.14805	0.011	B	0.15870	0.014	T	0.33214	-0.9877	10	0.17832	T	0.49	-5.2323	0.9871	0.01448	0.147:0.1797:0.3025:0.3708	.	23	Q68CR7	LRC66_HUMAN	S	23	ENSP00000341944:N23S	ENSP00000341944:N23S	N	-	2	0	LRRC66	52578469	0.000000	0.05858	0.000000	0.03702	0.167000	0.22549	-0.076000	0.11412	-0.274000	0.09232	0.455000	0.32223	AAT		0.299	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361473.1	NM_001024611	
ENOPH1	58478	broad.mit.edu	37	4	83372300	83372300	+	Silent	SNP	G	G	A	rs143039236	byFrequency	TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr4:83372300G>A	ENST00000273920.3	+	3	559	c.291G>A	c.(289-291)gtG>gtA	p.V97V	ENOPH1_ENST00000509635.1_Silent_p.V9V	NM_021204.3	NP_067027.1			enolase-phosphatase 1											central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|skin(1)	13						TAGATAATGTGTGCTGGCAGA	0.562													G|||	2	0.000399361	0.0	0.0	5008	,	,		17376	0.002		0.0	False		,,,				2504	0.0					uc003hmv.2																			0					0						c.(289-291)GTG>GTA		enolase-phosphatase 1							108.0	98.0	101.0					4																	83372300		2203	4300	6503	SO:0001819	synonymous_variant	58478				L-methionine salvage from methylthioadenosine	cytoplasm|nucleus	2,3-diketo-5-methylthiopentyl-1-phosphate enolase activity|2-hydroxy-3-keto-5-methylthiopentenyl-1-phosphate phosphatase activity|acireductone synthase activity|magnesium ion binding|phosphoglycolate phosphatase activity	g.chr4:83372300G>A		CCDS3594.1, CCDS75154.1	4q21.3	2013-05-29			ENSG00000145293	ENSG00000145293	3.1.3.77		24599	protein-coding gene	gene with protein product	"""Enolase-phosphatase E1"", ""acireductone synthase"""					15843022	Standard	XM_005263168		Approved	MASA, E1, mtnC	uc003hmv.3	Q9UHY7	OTTHUMG00000130295	ENST00000273920.3:c.291G>A	4.37:g.83372300G>A						ENOPH1_uc003hmw.2_Silent_p.V9V|ENOPH1_uc003hmx.2_Intron	p.V97V	NM_021204	NP_067027	Q9UHY7	ENOPH_HUMAN			3	548	+			97						Silent	SNP	ENST00000273920.3	37	c.291G>A	CCDS3594.1																																																																																				0.562	ENOPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252638.2	NM_021204	
ABCG2	9429	broad.mit.edu	37	4	89053011	89053011	+	Missense_Mutation	SNP	T	T	C	rs199578838		TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr4:89053011T>C	ENST00000237612.3	-	4	867	c.322A>G	c.(322-324)Ata>Gta	p.I108V	ABCG2_ENST00000515655.1_Missense_Mutation_p.I108V	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)	108	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular iron ion homeostasis (GO:0006879)|drug export (GO:0046618)|drug transmembrane transport (GO:0006855)|embryonic process involved in female pregnancy (GO:0060136)|heme transport (GO:0015886)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Afatinib(DB08916)|Apixaban(DB06605)|Buprenorphine(DB00921)|Cabazitaxel(DB06772)|Carboplatin(DB00958)|Cisplatin(DB00515)|Cladribine(DB00242)|Clofarabine(DB00631)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gefitinib(DB00317)|Glyburide(DB01016)|Hesperetin(DB01094)|Hydrocortisone(DB00741)|Imatinib(DB00619)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Methotrexate(DB00563)|Mitoxantrone(DB01204)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Nilotinib(DB04868)|Nitrofurantoin(DB00698)|Novobiocin(DB01051)|Omeprazole(DB00338)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Prazosin(DB00457)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Sorafenib(DB00398)|Sulfasalazine(DB00795)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Teniposide(DB00444)|Teriflunomide(DB08880)|Testosterone(DB00624)|Topotecan(DB01030)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vincristine(DB00541)|Vismodegib(DB08828)|Zafirlukast(DB00549)|Zidovudine(DB00495)	GCTCCATTTATCAGAACATCT	0.378																																						uc003hrg.2																			0				central_nervous_system(1)	1						c.(322-324)ATA>GTA		ATP-binding cassette, sub-family G, member 2	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)						98.0	91.0	93.0					4																	89053011		2203	4300	6503	SO:0001583	missense	9429				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity	g.chr4:89053011T>C	AF103796	CCDS3628.1, CCDS58910.1	4q22.1	2014-08-27	2014-08-27		ENSG00000118777	ENSG00000118777		"""CD molecules"", ""ATP binding cassette transporters / subfamily G"""	74	protein-coding gene	gene with protein product		603756	"""ATP-binding cassette, sub-family G (WHITE), member 2"""			8894702, 9861027	Standard	NM_001257386		Approved	EST157481, MXR, BCRP, ABCP, CD338	uc003hrg.3	Q9UNQ0	OTTHUMG00000130601	ENST00000237612.3:c.322A>G	4.37:g.89053011T>C	ENSP00000237612:p.Ile108Val					ABCG2_uc003hrh.2_Missense_Mutation_p.I108V|ABCG2_uc003hrf.2_5'UTR|ABCG2_uc003hri.1_Missense_Mutation_p.I108V|ABCG2_uc003hrj.1_Missense_Mutation_p.I108V|ABCG2_uc003hrk.1_Missense_Mutation_p.I108V	p.I108V	NM_004827	NP_004818	Q9UNQ0	ABCG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	4	815	-		Hepatocellular(203;0.114)	108			ABC transporter.|Cytoplasmic (Potential).		A0A1W3|A8K1T5|O95374|Q4W5I3|Q53ZQ1|Q569L4|Q5YLG4|Q86V64|Q8IX16|Q96LD6|Q96TA8|Q9BY73|Q9NUS0	Missense_Mutation	SNP	ENST00000237612.3	37	c.322A>G	CCDS3628.1	.	.	.	.	.	.	.	.	.	.	T	0.961	-0.703156	0.03255	.	.	ENSG00000118777	ENST00000515655;ENST00000237612;ENST00000505480;ENST00000503830	D;D;D;D	0.94046	-3.34;-3.34;-2.85;-2.85	5.42	3.01	0.34805	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.174167	0.64402	D	0.000020	D	0.82384	0.5025	N	0.04768	-0.165	0.37692	D	0.923889	B;B	0.27316	0.099;0.175	B;B	0.30495	0.108;0.116	T	0.75608	-0.3259	10	0.18710	T	0.47	-18.896	7.5687	0.27894	0.0:0.1713:0.0:0.8287	.	108;108	Q9UNQ0-2;Q9UNQ0	.;ABCG2_HUMAN	V	108;108;146;126	ENSP00000426917:I108V;ENSP00000237612:I108V;ENSP00000426916:I146V;ENSP00000426934:I126V	ENSP00000237612:I108V	I	-	1	0	ABCG2	89272035	0.983000	0.35010	1.000000	0.80357	0.622000	0.37654	1.320000	0.33666	0.997000	0.38969	0.533000	0.62120	ATA		0.378	ABCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253051.1	NM_004827	
PCDHA13	56136	broad.mit.edu	37	5	140263677	140263677	+	Silent	SNP	G	G	A			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr5:140263677G>A	ENST00000289272.2	+	1	1824	c.1824G>A	c.(1822-1824)tcG>tcA	p.S608S	PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA13_ENST00000409494.1_Silent_p.S608S|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000307360.5_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	608	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGGCTTTCGTATGAATTGC	0.682																																					Melanoma(147;1739 1852 5500 27947 37288)	uc003lif.2																			0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(1822-1824)TCG>TCA		protocadherin alpha 13 isoform 1 precursor							68.0	72.0	71.0					5																	140263677		2202	4298	6500	SO:0001819	synonymous_variant	56136				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140263677G>A	AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.1824G>A	5.37:g.140263677G>A						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Silent_p.S608S|PCDHA13_uc003lid.2_Silent_p.S608S	p.S608S	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1824	+			608			Cadherin 6.|Extracellular (Potential).		O75277	Silent	SNP	ENST00000289272.2	37	c.1824G>A	CCDS4240.1																																																																																				0.682	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904	
PCDHB14	56122	broad.mit.edu	37	5	140604583	140604583	+	Silent	SNP	C	C	A			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr5:140604583C>A	ENST00000239449.4	+	1	1506	c.1506C>A	c.(1504-1506)tcC>tcA	p.S502S	PCDHB14_ENST00000515856.2_Silent_p.S349S	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	502	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTCGCCTCCTTGGTCTCCA	0.647																																					Ovarian(141;50 1831 27899 33809 37648)	uc003ljb.2																			0				ovary(1)	1						c.(1504-1506)TCC>TCA		protocadherin beta 14 precursor							100.0	106.0	104.0					5																	140604583		2203	4300	6503	SO:0001819	synonymous_variant	56122				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140604583C>A	AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"""Cadherins / Protocadherins : Clustered"""	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.1506C>A	5.37:g.140604583C>A						PCDHB14_uc011dal.1_Silent_p.S349S	p.S502S	NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1506	+			502			Extracellular (Potential).|Cadherin 5.		B4DPE2|Q4FZA4|Q4KN11	Silent	SNP	ENST00000239449.4	37	c.1506C>A	CCDS4256.1																																																																																				0.647	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	NM_018934	
C2	717	broad.mit.edu	37	6	31901955	31901955	+	Missense_Mutation	SNP	G	G	A	rs201130773		TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr6:31901955G>A	ENST00000299367.5	+	6	1004	c.728G>A	c.(727-729)cGt>cAt	p.R243H	CFB_ENST00000477310.1_Intron|C2_ENST00000418949.2_Missense_Mutation_p.R243H|C2_ENST00000469372.1_Intron|CFB_ENST00000556679.1_Intron|C2_ENST00000442278.2_Missense_Mutation_p.R111H|C2_ENST00000452323.2_Intron|CFB_ENST00000456570.1_Intron	NM_000063.4	NP_000054.2	P06681	CO2_HUMAN	complement component 2	243					complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		AGCCTGGGCCGTAAAATCCAA	0.547													G|||	1	0.000199681	0.0	0.0	5008	,	,		19168	0.0		0.001	False		,,,				2504	0.0					uc003nyf.2																			0				ovary(1)|skin(1)	2						c.(727-729)CGT>CAT		complement component 2 isoform 1 preproprotein							108.0	113.0	112.0					6																	31901955		2203	4300	6503	SO:0001583	missense	717				complement activation, classical pathway|innate immune response|proteolysis	extracellular space	serine-type endopeptidase activity	g.chr6:31901955G>A		CCDS4728.1, CCDS54991.1, CCDS56416.1, CCDS75427.1, CCDS75428.1	6p21.3	2014-09-17			ENSG00000166278	ENSG00000166278		"""Complement system"""	1248	protein-coding gene	gene with protein product		613927					Standard	NM_001145903		Approved		uc011hbs.1	P06681	OTTHUMG00000031190	ENST00000299367.5:c.728G>A	6.37:g.31901955G>A	ENSP00000299367:p.Arg243His					C2_uc003nyc.2_Intron|C2_uc011doo.1_Intron|C2_uc011dop.1_Intron|C2_uc003nye.3_Missense_Mutation_p.R243H|C2_uc010jtk.2_Missense_Mutation_p.R111H|C2_uc011doq.1_Missense_Mutation_p.R214H|C2_uc003nyg.2_Intron|CFB_uc011dor.1_Intron|C2_uc003nyh.1_5'Flank	p.R243H	NM_000063	NP_000054	P06681	CO2_HUMAN		LUAD - Lung adenocarcinoma(999;0.247)	6	992	+		Ovarian(999;0.00965)	243					B4DPF3|B4DV20|E9PFN7|O19694|Q13904	Missense_Mutation	SNP	ENST00000299367.5	37	c.728G>A	CCDS4728.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	14.47	2.543921	0.45280	.	.	ENSG00000166278	ENST00000452202;ENST00000299367;ENST00000442278;ENST00000447952;ENST00000418949;ENST00000494905	T;T;T;T;T;T	0.78816	-1.21;-1.21;-1.21;-1.21;-1.21;-1.21	5.46	5.46	0.80206	.	0.000000	0.38897	N	0.001530	D	0.86510	0.5950	.	.	.	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.996;0.97	D	0.87766	0.2602	9	0.87932	D	0	-14.0377	15.1563	0.72746	0.0:0.0:1.0:0.0	.	214;111;243;243	B4DV48;E9PFN7;P06681;Q8N6L6	.;.;CO2_HUMAN;.	H	120;243;111;181;243;102	ENSP00000406121:R120H;ENSP00000299367:R243H;ENSP00000395683:R111H;ENSP00000391354:R181H;ENSP00000406190:R243H;ENSP00000419048:R102H	ENSP00000299367:R243H	R	+	2	0	C2	32009934	0.998000	0.40836	0.954000	0.39281	0.776000	0.43924	4.689000	0.61723	2.726000	0.93360	0.655000	0.94253	CGT		0.547	C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076379.9		
OGDH	4967	broad.mit.edu	37	7	44684936	44684936	+	Frame_Shift_Del	DEL	T	T	-			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr7:44684936delT	ENST00000222673.5	+	3	275	c.233delT	c.(232-234)attfs	p.I78fs	OGDH_ENST00000444676.1_Frame_Shift_Del_p.I78fs|OGDH_ENST00000449767.1_Frame_Shift_Del_p.I78fs|OGDH_ENST00000443864.2_Frame_Shift_Del_p.I78fs|OGDH_ENST00000439616.2_Intron|OGDH_ENST00000543843.1_Frame_Shift_Del_p.I18fs|OGDH_ENST00000447398.1_Frame_Shift_Del_p.I78fs	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	78					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)	p.R81fs*19(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	TCATGGGACATTTTTTTTCGC	0.577																																						uc003tln.2																			1	Deletion - Frameshift(1)		breast(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(232-234)ATTfs		oxoglutarate dehydrogenase isoform 1 precursor	NADH(DB00157)						127.0	121.0	123.0					7																	44684936		2203	4300	6503	SO:0001589	frameshift_variant	4967				glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr7:44684936delT	D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.233delT	7.37:g.44684936delT	ENSP00000222673:p.Ile78fs					OGDH_uc003tlm.2_Frame_Shift_Del_p.I78fs|OGDH_uc011kbx.1_Frame_Shift_Del_p.I78fs|OGDH_uc011kby.1_Intron|OGDH_uc003tlp.2_Frame_Shift_Del_p.I78fs|OGDH_uc011kbz.1_5'UTR|OGDH_uc003tlo.1_5'UTR	p.I78fs	NM_002541	NP_002532	Q02218	ODO1_HUMAN			3	342	+			78					B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Frame_Shift_Del	DEL	ENST00000222673.5	37	c.233delT	CCDS34627.1																																																																																				0.577	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1		
POM121	9883	broad.mit.edu	37	7	72398976	72398976	+	Missense_Mutation	SNP	A	A	G	rs147859349		TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr7:72398976A>G	ENST00000434423.2	+	4	1076	c.1076A>G	c.(1075-1077)aAt>aGt	p.N359S	POM121_ENST00000446813.1_Missense_Mutation_p.N94S|POM121_ENST00000257622.4_Missense_Mutation_p.N94S|POM121_ENST00000395270.1_Missense_Mutation_p.N94S|POM121_ENST00000358357.3_Missense_Mutation_p.N94S			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	359	Pore side. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				CTGGTGGCCAATGGAGTCCCC	0.468													.|||	1	0.000199681	0.0008	0.0	5008	,	,		16715	0.0		0.0	False		,,,				2504	0.0					uc003twk.2																			0					0						c.(1075-1077)AAT>AGT		nuclear pore membrane protein 121							189.0	188.0	188.0					7																	72398976		2203	4300	6503	SO:0001583	missense	9883				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr7:72398976A>G	AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"""-"""	19702	protein-coding gene	gene with protein product		615753	"""POM121 membrane glycoprotein (rat)"", ""POM121 membrane glycoprotein"""			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.1076A>G	7.37:g.72398976A>G	ENSP00000405562:p.Asn359Ser					POM121_uc003twj.2_Missense_Mutation_p.N94S|POM121_uc010lam.1_Missense_Mutation_p.N94S	p.N359S	NM_172020	NP_742017	Q96HA1	P121A_HUMAN			4	1076	+		Lung NSC(55;0.163)	359			Pore side (Potential).		A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	ENST00000434423.2	37	c.1076A>G		.	.	.	.	.	.	.	.	.	.	G	12.65	2.002131	0.35320	.	.	ENSG00000196313	ENST00000446813;ENST00000257622;ENST00000395270;ENST00000358357;ENST00000434423	T;T;T;T;T	0.14266	2.52;2.52;2.52;2.52;2.52	3.99	3.99	0.46301	.	0.154071	0.30020	N	0.010614	T	0.13457	0.0326	L	0.57536	1.79	0.32153	N	0.584002	B;B	0.31193	0.312;0.006	B;B	0.26202	0.067;0.053	T	0.08066	-1.0740	10	0.30078	T	0.28	.	10.8045	0.46509	1.0:0.0:0.0:0.0	.	94;359	A8MXF9;Q96HA1	.;P121A_HUMAN	S	94;94;94;94;359	ENSP00000393020:N94S;ENSP00000257622:N94S;ENSP00000378687:N94S;ENSP00000351124:N94S;ENSP00000405562:N359S	ENSP00000257622:N94S	N	+	2	0	POM121	72036912	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	5.143000	0.64826	1.663000	0.50791	0.373000	0.22412	AAT		0.468	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347344.1		
ZFAT	57623	broad.mit.edu	37	8	135533235	135533235	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr8:135533235T>G	ENST00000377838.3	-	13	3299	c.3125A>C	c.(3124-3126)aAg>aCg	p.K1042T	ZFAT_ENST00000429442.2_Missense_Mutation_p.K1030T|ZFAT_ENST00000520214.1_Missense_Mutation_p.K1030T|ZFAT_ENST00000523399.1_Missense_Mutation_p.K980T|ZFAT_ENST00000517307.1_5'UTR|ZFAT_ENST00000520356.1_Missense_Mutation_p.K1030T|ZFAT_ENST00000520727.1_Missense_Mutation_p.K1030T	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	1042					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			AACAGGACACTTCAAACCACC	0.408																																						uc003yup.2																			0				central_nervous_system(1)	1						c.(3124-3126)AAG>ACG		zinc finger protein 406 isoform ZFAT-1							73.0	67.0	69.0					8																	135533235		1866	4104	5970	SO:0001583	missense	57623				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding	g.chr8:135533235T>G	BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"""Zinc fingers, C2H2-type"""	19899	protein-coding gene	gene with protein product		610931	"""zinc finger protein 406"""	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.3125A>C	8.37:g.135533235T>G	ENSP00000367069:p.Lys1042Thr					ZFAT_uc011ljj.1_Missense_Mutation_p.K161T|ZFAT_uc003yun.2_Missense_Mutation_p.K1030T|ZFAT_uc003yuo.2_Missense_Mutation_p.K1030T|ZFAT_uc010meh.2_Missense_Mutation_p.K1030T|ZFAT_uc010mei.2_RNA|ZFAT_uc003yuq.2_Missense_Mutation_p.K1030T|ZFAT_uc010mej.2_Missense_Mutation_p.K980T	p.K1042T	NM_020863	NP_065914	Q9P243	ZFAT_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0432)		13	3300	-	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		1042			C2H2-type 19.		B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Missense_Mutation	SNP	ENST00000377838.3	37	c.3125A>C	CCDS47924.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.344802	0.82022	.	.	ENSG00000066827	ENST00000520356;ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000318135;ENST00000523399	T;T;T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08;-1.08;-1.08	5.53	5.53	0.82687	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	D	0.82421	0.5033	L	0.36672	1.1	0.53005	D	0.999969	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.998;0.999	T	0.82002	-0.0673	10	0.39692	T	0.17	-32.8975	14.5267	0.67894	0.0:0.0:0.0:1.0	.	161;980;1030;1042	B7Z741;E9PER3;E9PBN4;Q9P243	.;.;.;ZFAT_HUMAN	T	1030;1030;1030;1042;1030;929;980	ENSP00000427879:K1030T;ENSP00000427831:K1030T;ENSP00000394501:K1030T;ENSP00000367069:K1042T;ENSP00000428483:K1030T;ENSP00000429091:K980T	ENSP00000326997:K929T	K	-	2	0	ZFAT	135602417	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.665000	0.74442	2.113000	0.64589	0.524000	0.50904	AAG		0.408	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939	
PTGER4P2	5736	broad.mit.edu	37	9	66499821	66499822	+	IGR	DEL	TA	TA	-			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr9:66499821_66499822delTA								RP11-262H14.1 (30511 upstream) : RP11-262H14.7 (17383 downstream)																							GACCACCTTCTATACAGTTATG	0.604																																						uc004aee.1																			0					0						c.(631-633)TATfs		Homo sapiens hypothetical LOC442421, mRNA (cDNA clone IMAGE:40031134).																																				SO:0001628	intergenic_variant	442421							g.chr9:66499821_66499822delTA																													9.37:g.66499823_66499824delTA						LOC442421_uc004aed.1_RNA	p.Y211fs							1	631_632	+									Frame_Shift_Del	DEL		37	c.631_632delTA																																																																																				0	0.604								
IARS	3376	broad.mit.edu	37	9	95004467	95004467	+	Missense_Mutation	SNP	G	G	C	rs200476416		TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr9:95004467G>C	ENST00000375643.3	-	29	3412	c.3146C>G	c.(3145-3147)tCg>tGg	p.S1049W	IARS_ENST00000474340.1_5'UTR|IARS_ENST00000375627.1_Missense_Mutation_p.S102W|IARS_ENST00000375629.3_Missense_Mutation_p.S102W|IARS_ENST00000443024.2_Missense_Mutation_p.S1049W|IARS_ENST00000447699.2_Missense_Mutation_p.S939W	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	1049					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|osteoblast differentiation (GO:0001649)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	GACTTTATCCGATGGAGAAAC	0.388																																						uc004art.1																			0				ovary(1)|skin(1)	2						c.(3145-3147)TCG>TGG		isoleucine tRNA synthetase	L-Isoleucine(DB00167)						151.0	149.0	150.0					9																	95004467		2203	4300	6503	SO:0001583	missense	3376				isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding	g.chr9:95004467G>C	AB209234	CCDS6694.1	9q21	2011-07-01	2007-02-26		ENSG00000196305	ENSG00000196305	6.1.1.5	"""Aminoacyl tRNA synthetases / Class I"""	5330	protein-coding gene	gene with protein product	"""isoleucine tRNA ligase 1, cytoplasmic"""	600709				8812440	Standard	NM_002161		Approved	ILRS, IARS1	uc004aru.4	P41252	OTTHUMG00000020219	ENST00000375643.3:c.3146C>G	9.37:g.95004467G>C	ENSP00000364794:p.Ser1049Trp					IARS_uc004ars.1_Missense_Mutation_p.S894W|IARS_uc004aru.3_Missense_Mutation_p.S1049W|IARS_uc010mqr.2_Missense_Mutation_p.S939W|IARS_uc010mqt.2_Missense_Mutation_p.S272W	p.S1049W	NM_013417	NP_038203	P41252	SYIC_HUMAN			29	3403	-			1049					A8KAE9|Q5TCD0|Q7Z3T4|Q9H588	Missense_Mutation	SNP	ENST00000375643.3	37	c.3146C>G	CCDS6694.1	.	.	.	.	.	.	.	.	.	.	G	10.84	1.463287	0.26248	.	.	ENSG00000196305	ENST00000375643;ENST00000375629;ENST00000443024;ENST00000447699;ENST00000375660;ENST00000375627	T;T;T	0.44083	0.93;0.93;0.93	6.05	5.16	0.70880	.	0.611731	0.17250	N	0.181200	T	0.64560	0.2609	M	0.78801	2.425	0.26375	N	0.976833	D;B;P	0.71674	0.998;0.001;0.9	D;B;P	0.65010	0.931;0.009;0.473	T	0.61633	-0.7023	10	0.87932	D	0	-2.5514	14.9844	0.71336	0.0686:0.0:0.9314:0.0	.	559;1049;894	F5H1M4;P41252;Q6P0M4	.;SYIC_HUMAN;.	W	1049;102;1049;939;1049;102	ENSP00000364794:S1049W;ENSP00000406448:S1049W;ENSP00000415020:S939W	ENSP00000364778:S102W	S	-	2	0	IARS	94044288	0.985000	0.35326	0.296000	0.24974	0.035000	0.12851	3.213000	0.51153	1.571000	0.49722	-0.142000	0.14014	TCG		0.388	IARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053059.2	NM_002161	
DCAF12L2	340578	broad.mit.edu	37	X	125298905	125298905	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chrX:125298905G>A	ENST00000360028.2	-	1	1029	c.1003C>T	c.(1003-1005)Cgc>Tgc	p.R335C	DCAF12L2_ENST00000538699.1_Missense_Mutation_p.R335C			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	335								p.R335C(2)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						TGGCGCTGGCGCGGATCCAGG	0.627																																						uc004euk.1																			2	Substitution - Missense(2)		endometrium(2)	lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1)	7						c.(1003-1005)CGC>TGC		DDB1 and CUL4 associated factor 12-like 2							59.0	63.0	62.0					X																	125298905		2203	4300	6503	SO:0001583	missense	340578							g.chrX:125298905G>A	AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"""WD repeat domain containing"""	32950	protein-coding gene	gene with protein product			"""WD repeat domain 40C"""	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.1003C>T	X.37:g.125298905G>A	ENSP00000353128:p.Arg335Cys						p.R335C	NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN			1	1030	-			335					B2RN42	Missense_Mutation	SNP	ENST00000360028.2	37	c.1003C>T	CCDS43991.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.032144	0.54790	.	.	ENSG00000198354	ENST00000538699;ENST00000360028	T;T	0.67865	-0.29;-0.29	4.05	2.14	0.27477	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.33057	N	0.005338	T	0.80082	0.4558	M	0.82323	2.585	0.52501	D	0.999955	D	0.89917	1.0	D	0.85130	0.997	T	0.79458	-0.1795	10	0.66056	D	0.02	.	9.6185	0.39708	0.0:0.0:0.6157:0.3843	.	335	Q5VW00	DC122_HUMAN	C	335	ENSP00000441489:R335C;ENSP00000353128:R335C	ENSP00000353128:R335C	R	-	1	0	DCAF12L2	125126586	0.997000	0.39634	0.036000	0.18154	0.811000	0.45836	2.526000	0.45607	0.408000	0.25621	0.544000	0.68410	CGC		0.627	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628	
