#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
INPP5B	3633	broad.mit.edu	37	1	38328017	38328017	+	Missense_Mutation	SNP	A	A	C			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr1:38328017A>C	ENST00000373026.1	-	23	2952	c.2952T>G	c.(2950-2952)ttT>ttG	p.F984L	INPP5B_ENST00000373024.3_Missense_Mutation_p.F904L|RP11-109P14.10_ENST00000419993.1_RNA|MTF1_ENST00000373036.4_5'Flank|INPP5B_ENST00000373027.1_Missense_Mutation_p.F740L|INPP5B_ENST00000373023.2_Missense_Mutation_p.F984L			P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	984	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol dephosphorylation (GO:0046856)|regulation of protein processing (GO:0070613)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|metal ion binding (GO:0046872)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				ACTGGTGAATAAATTCTTGAG	0.458																																						ENST00000373023.2																			0				breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15						c.(2950-2952)ttT>ttG		inositol polyphosphate-5-phosphatase, 75kDa							119.0	116.0	117.0					1																	38328017		1863	4096	5959	SO:0001583	missense	3633				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding	g.chr1:38328017A>C	M74161	CCDS41306.1, CCDS72760.1	1p34	2008-02-05	2002-08-29		ENSG00000204084	ENSG00000204084	3.1.3.56		6077	protein-coding gene	gene with protein product		147264	"""inositol polyphosphate-5-phosphatase, 75kD"""			1718960	Standard	NM_005540		Approved		uc001ccg.1	P32019	OTTHUMG00000004436	ENST00000373026.1:c.2952T>G	1.37:g.38328017A>C	ENSP00000362117:p.Phe984Leu					INPP5B_ENST00000373026.1_Missense_Mutation_p.F984L|INPP5B_ENST00000373024.3_Missense_Mutation_p.F904L|INPP5B_ENST00000373027.1_Missense_Mutation_p.F740L	p.F984L	NM_005540.2	NP_005531.2	P32019	I5P2_HUMAN			24	3045	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	984			Rho-GAP.		C9J6U5|Q5VSG9|Q5VSH0|Q5VSH1|Q658Q5|Q6P6D4|Q6PD53|Q86YE1	Missense_Mutation	SNP	ENST00000373026.1	37	c.2952T>G		.	.	.	.	.	.	.	.	.	.	A	22.8	4.333264	0.81801	.	.	ENSG00000204084	ENST00000373027;ENST00000373023;ENST00000373026;ENST00000373024	T;T;T;T	0.39229	1.09;1.09;1.09;1.09	5.63	4.35	0.52113	.	0.000000	0.85682	D	0.000000	T	0.55146	0.1902	L	0.56199	1.76	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.56056	-0.8042	10	0.59425	D	0.04	.	8.9778	0.35946	0.846:0.0:0.154:0.0	.	904	P32019-2	.	L	740;984;984;904	ENSP00000362118:F740L;ENSP00000362114:F984L;ENSP00000362117:F984L;ENSP00000362115:F904L	ENSP00000362114:F984L	F	-	3	2	INPP5B	38100604	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.189000	0.42621	2.265000	0.75225	0.533000	0.62120	TTT		0.458	INPP5B-003	KNOWN	non_canonical_conserved|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000012968.1	NM_005540		13	38	13	38	---	---	---	---
CAD	790	broad.mit.edu	37	2	27449052	27449052	+	Missense_Mutation	SNP	A	A	G			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr2:27449052A>G	ENST00000264705.4	+	13	2058	c.1896A>G	c.(1894-1896)atA>atG	p.I632M	CAD_ENST00000403525.1_Intron	NM_004341.3	NP_004332.2	O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTGAGTCCATAGTGGTGGCCC	0.567																																						ENST00000264705.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92						c.(1894-1896)atA>atG		carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)						88.0	86.0	87.0					2																	27449052		2203	4300	6503	SO:0001583	missense	790				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	g.chr2:27449052A>G	D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000264705.4:c.1896A>G	2.37:g.27449052A>G	ENSP00000264705:p.Ile632Met					CAD_ENST00000403525.1_Intron	p.I632M	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN			13	2058	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		632			ATP-grasp 1.|CPSase (Carbamoyl-phosphate synthase).|CPSase A.		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	ENST00000264705.4	37	c.1896A>G	CCDS1742.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.163743	0.78226	.	.	ENSG00000084774	ENST00000264705	D	0.98028	-4.67	5.51	-6.47	0.01902	ATP-grasp fold (1);ATP-grasp fold, subdomain 2 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);Carbamoyl-phosphate synthase, large subunit, CPS-domain (1);	0.045906	0.85682	D	0.000000	D	0.97993	0.9339	M	0.88377	2.95	0.80722	D	1	P	0.49783	0.928	P	0.55824	0.785	D	0.97047	0.9761	10	0.87932	D	0	0.652	16.3145	0.82913	0.1574:0.7483:0.0:0.0943	.	632	P27708	PYR1_HUMAN	M	632	ENSP00000264705:I632M	ENSP00000264705:I632M	I	+	3	3	CAD	27302556	0.000000	0.05858	0.960000	0.40013	0.989000	0.77384	-1.887000	0.01617	-0.957000	0.03627	0.454000	0.30748	ATA		0.567	CAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214186.2			18	29	18	29	---	---	---	---
CD8B	926	broad.mit.edu	37	2	87085245	87085245	+	Missense_Mutation	SNP	A	A	C			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr2:87085245A>C	ENST00000390655.6	-	2	396	c.338T>G	c.(337-339)aTc>aGc	p.I113S	CD8B_ENST00000393761.2_Missense_Mutation_p.I113S|CD8B_ENST00000349455.3_Missense_Mutation_p.I113S|CD8B_ENST00000431506.2_Intron|CD8B_ENST00000331469.2_Missense_Mutation_p.I113S|CD8B_ENST00000393759.2_Missense_Mutation_p.I113S	NM_004931.4	NP_004922.1	P10966	CD8B_HUMAN	CD8b molecule	113	Ig-like V-type.				immune response (GO:0006955)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|MHC class I protein binding (GO:0042288)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	13						GCAGAAGTAGATGCCACTGTC	0.542																																						ENST00000390655.6																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	13						c.(337-339)aTc>aGc		CD8b molecule							120.0	112.0	114.0					2																	87085245		2203	4300	6503	SO:0001583	missense	926				immune response|regulation of defense response to virus by virus|regulation of immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway|viral reproduction	early endosome|extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding	g.chr2:87085245A>C		CCDS1994.1, CCDS1995.1, CCDS42708.1, CCDS1997.1, CCDS54376.1	2p12	2013-01-11	2006-03-28	2006-03-09	ENSG00000172116	ENSG00000172116		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1707	protein-coding gene	gene with protein product		186730	"""CD8 antigen, beta polypeptide 1 (p37)"""	CD8B1		1541829	Standard	NM_172213		Approved		uc002srw.3	P10966	OTTHUMG00000130264	ENST00000390655.6:c.338T>G	2.37:g.87085245A>C	ENSP00000375070:p.Ile113Ser					CD8B_ENST00000393759.2_Missense_Mutation_p.I113S|CD8B_ENST00000393761.2_Missense_Mutation_p.I113S|CD8B_ENST00000349455.3_Missense_Mutation_p.I113S|CD8B_ENST00000431506.2_Intron|CD8B_ENST00000331469.2_Missense_Mutation_p.I113S	p.I113S	NM_004931.4	NP_004922.1	P10966	CD8B_HUMAN			2	396	-			113			Ig-like V-type.		P14860|P14861|Q15980|Q496E0|Q496E1|Q496E2|Q9UDB4|Q9UDB5|Q9UDB6|Q9UDB7|Q9UDB8|Q9UDB9|Q9UDC0|Q9UQ55	Missense_Mutation	SNP	ENST00000390655.6	37	c.338T>G	CCDS1997.1	.	.	.	.	.	.	.	.	.	.	A	6.100	0.386806	0.11524	.	.	ENSG00000172116	ENST00000393761;ENST00000393759;ENST00000349455;ENST00000331469;ENST00000390655;ENST00000445248	T;T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26;-0.26	4.55	3.38	0.38709	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.869934	0.10257	N	0.696449	T	0.54870	0.1885	L	0.38175	1.15	0.80722	D	1	B;B;B;B;B;B	0.32573	0.376;0.245;0.245;0.228;0.274;0.307	B;B;B;B;B;B	0.31101	0.124;0.124;0.124;0.058;0.079;0.076	T	0.50466	-0.8825	10	0.87932	D	0	-3.495	7.062	0.25131	0.8942:0.0:0.1058:0.0	.	113;113;113;113;113;113	Q496E2;Q53QL8;P10966;P10966-3;P10966-2;P10966-6	.;.;CD8B_HUMAN;.;.;.	S	113	ENSP00000377358:I113S;ENSP00000377356:I113S;ENSP00000340592:I113S;ENSP00000331172:I113S;ENSP00000375070:I113S	ENSP00000331172:I113S	I	-	2	0	CD8B	86938756	0.004000	0.15560	0.647000	0.29507	0.050000	0.14768	-0.333000	0.07894	0.613000	0.30089	-0.388000	0.06559	ATC		0.542	CD8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330402.1	NM_172099		40	33	40	33	---	---	---	---
IL36RN	26525	broad.mit.edu	37	2	113819703	113819703	+	Missense_Mutation	SNP	G	G	C			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr2:113819703G>C	ENST00000393200.2	+	4	279	c.118G>C	c.(118-120)Gaa>Caa	p.E40Q	IL36RN_ENST00000346807.3_Missense_Mutation_p.E40Q	NM_012275.2	NP_036407.1	Q9UBH0	I36RA_HUMAN	interleukin 36 receptor antagonist	40					antifungal humoral response (GO:0019732)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of interferon-gamma secretion (GO:1902714)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)	extracellular space (GO:0005615)	interleukin-1 receptor antagonist activity (GO:0005152)			large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						TCCCACAGGTGAAGAGATCAG	0.632																																						ENST00000393200.2																			0				large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						c.(118-120)Gaa>Caa		interleukin 36 receptor antagonist							42.0	41.0	42.0					2																	113819703		2203	4300	6503	SO:0001583	missense	26525					extracellular space	cytokine activity|interleukin-1 receptor antagonist activity	g.chr2:113819703G>C	AF201830	CCDS2111.1	2q14	2014-09-17	2011-06-06	2011-06-06	ENSG00000136695	ENSG00000136695		"""Interleukins and interleukin receptors"""	15561	protein-coding gene	gene with protein product	"""family of interleukin 1-delta"", ""interleukin-1 receptor antagonist homolog 1"", ""interleukin-1 HY1"", ""IL-1 related protein 3"""	605507	"""interleukin 1 family, member 5 (delta)"""	IL1F5		10625660, 10512743, 11574262	Standard	NM_012275		Approved	FIL1, FIL1(DELTA), FIL1D, IL1HY1, IL1RP3, IL1L1, IL-1F5, IL36RA, MGC29840	uc002tit.3	Q9UBH0	OTTHUMG00000131337	ENST00000393200.2:c.118G>C	2.37:g.113819703G>C	ENSP00000376896:p.Glu40Gln					IL36RN_ENST00000346807.3_Missense_Mutation_p.E40Q	p.E40Q	NM_012275.2	NP_036407.1	Q9UBH0	I36RA_HUMAN			4	279	+			40					A8K2I4|Q56AT9|Q7RTZ6	Missense_Mutation	SNP	ENST00000393200.2	37	c.118G>C	CCDS2111.1	.	.	.	.	.	.	.	.	.	.	G	19.61	3.860225	0.71834	.	.	ENSG00000136695	ENST00000346807;ENST00000393200;ENST00000437409	T;T;T	0.78246	-1.16;-1.16;-1.16	5.36	5.36	0.76844	.	0.175673	0.49916	D	0.000126	D	0.85075	0.5614	L	0.59436	1.845	0.35816	D	0.824212	D	0.76494	0.999	D	0.68353	0.957	D	0.89324	0.3642	10	0.87932	D	0	-31.241	14.5869	0.68331	0.0:0.0:1.0:0.0	.	40	Q9UBH0	I36RA_HUMAN	Q	40	ENSP00000259212:E40Q;ENSP00000376896:E40Q;ENSP00000409262:E40Q	ENSP00000259212:E40Q	E	+	1	0	IL36RN	113536174	0.994000	0.37717	0.998000	0.56505	0.705000	0.40729	4.823000	0.62694	2.511000	0.84671	0.655000	0.94253	GAA		0.632	IL36RN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330729.1	NM_173170		7	8	7	8	---	---	---	---
CCR2	729230	broad.mit.edu	37	3	46399612	46399612	+	Missense_Mutation	SNP	G	G	C			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr3:46399612G>C	ENST00000400888.2	+	1	633	c.594G>C	c.(592-594)tgG>tgC	p.W198C	CCR2_ENST00000465202.1_3'UTR|CCR2_ENST00000445132.2_Missense_Mutation_p.W198C|CCR2_ENST00000292301.4_Missense_Mutation_p.W198C			P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2	198					blood vessel remodeling (GO:0001974)|cellular calcium ion homeostasis (GO:0006874)|cellular defense response (GO:0006968)|cellular homeostasis (GO:0019725)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell chemotaxis (GO:0002407)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|JAK-STAT cascade (GO:0007259)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of angiogenesis (GO:0016525)|negative regulation of eosinophil degranulation (GO:0043310)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of astrocyte chemotaxis (GO:2000464)|positive regulation of CD8-positive, alpha-beta T cell extravasation (GO:2000451)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of immune complex clearance by monocytes and macrophages (GO:0090265)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of monocyte extravasation (GO:2000439)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of vascular endothelial growth factor production (GO:0010574)|response to wounding (GO:0009611)|T-helper 17 cell chemotaxis (GO:0035705)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|CCR2 chemokine receptor binding (GO:0031727)|chemokine receptor activity (GO:0004950)|protein homodimerization activity (GO:0042803)			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		CACGAGGATGGAATAATTTCC	0.463																																						ENST00000292301.4																			0				breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14						c.(592-594)tgG>tgC		chemokine (C-C motif) receptor 2							254.0	245.0	248.0					3																	46399612		1568	3582	5150	SO:0001583	missense	729230				astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity	g.chr3:46399612G>C		CCDS43078.1, CCDS46813.1	3p21	2012-08-08			ENSG00000121807	ENSG00000121807		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1603	protein-coding gene	gene with protein product		601267		CMKBR2		8146186	Standard	NM_001123041		Approved	CC-CKR-2, CKR2, MCP-1-R, CD192, FLJ78302	uc003cpn.4	P41597	OTTHUMG00000156466	ENST00000400888.2:c.594G>C	3.37:g.46399612G>C	ENSP00000383681:p.Trp198Cys					CCR2_ENST00000445132.2_Missense_Mutation_p.W198C|CCR2_ENST00000465202.1_3'UTR|CCR2_ENST00000400888.2_Missense_Mutation_p.W198C	p.W198C	NM_001123041.2	NP_001116513.2	P41597	CCR2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)	2	1079	+			198					A0AVQ3|B2RMT0|Q4VBL2	Missense_Mutation	SNP	ENST00000400888.2	37	c.594G>C	CCDS43078.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.804318	0.50315	.	.	ENSG00000121807	ENST00000445132;ENST00000292301;ENST00000400888	T;T;T	0.38722	1.12;1.12;1.12	5.04	5.04	0.67666	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000003	T	0.80031	0.4549	H	0.98936	4.375	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.88722	0.3230	10	0.87932	D	0	.	18.7457	0.91792	0.0:0.0:1.0:0.0	.	198;198	P41597;Q4VBL2	CCR2_HUMAN;.	C	198	ENSP00000399285:W198C;ENSP00000292301:W198C;ENSP00000383681:W198C	ENSP00000292301:W198C	W	+	3	0	CCR2	46374616	1.000000	0.71417	1.000000	0.80357	0.194000	0.23727	4.059000	0.57470	2.511000	0.84671	0.650000	0.86243	TGG		0.463	CCR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344292.1	NM_000647		5	178	5	178	---	---	---	---
SNX4	8723	broad.mit.edu	37	3	125176113	125176113	+	Silent	SNP	A	A	G			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr3:125176113A>G	ENST00000251775.4	-	11	1065	c.1041T>C	c.(1039-1041)acT>acC	p.T347T	SNX4_ENST00000536067.1_Silent_p.T202T	NM_003794.2	NP_003785.1	O95219	SNX4_HUMAN	sorting nexin 4	347					endocytic recycling (GO:0032456)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|early endosome membrane (GO:0031901)|membrane (GO:0016020)|protein complex (GO:0043234)	epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|leptin receptor binding (GO:1990460)|phosphatidylinositol binding (GO:0035091)|transferrin receptor binding (GO:1990459)			breast(2)|central_nervous_system(1)|lung(6)|ovary(1)|skin(1)	11						TACTCACCCCAGTTACCAGTT	0.473																																						ENST00000251775.4																			0				breast(2)|central_nervous_system(1)|lung(6)|ovary(1)|skin(1)	11						c.(1039-1041)acT>acC		sorting nexin 4							172.0	140.0	151.0					3																	125176113		2203	4300	6503	SO:0001819	synonymous_variant	8723				cell communication|endocytic recycling|endocytosis|protein transport	cytoplasmic dynein complex|early endosome membrane	phosphatidylinositol binding|protein binding	g.chr3:125176113A>G	AF065485	CCDS3032.1	3q21.2	2014-02-12			ENSG00000114520	ENSG00000114520		"""Sorting nexins"""	11175	protein-coding gene	gene with protein product		605931				9819414	Standard	NM_003794		Approved	ATG24B	uc003eib.4	O95219	OTTHUMG00000159575	ENST00000251775.4:c.1041T>C	3.37:g.125176113A>G						SNX4_ENST00000536067.1_Silent_p.T202T	p.T347T	NM_003794.2	NP_003785.1	O95219	SNX4_HUMAN			11	1065	-			347					B3KMH0|B4DQV4|D3DNA3	Silent	SNP	ENST00000251775.4	37	c.1041T>C	CCDS3032.1																																																																																				0.473	SNX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356299.1	NM_003794		4	57	4	57	---	---	---	---
KIAA1211	57482	broad.mit.edu	37	4	57181641	57181641	+	Missense_Mutation	SNP	C	C	A			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr4:57181641C>A	ENST00000504228.1	+	6	2078	c.1973C>A	c.(1972-1974)tCt>tAt	p.S658Y	KIAA1211_ENST00000541073.1_Missense_Mutation_p.S651Y|KIAA1211_ENST00000264229.6_Missense_Mutation_p.S658Y			Q6ZU35	K1211_HUMAN	KIAA1211	658										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CGCCAGGAGTCTCCCAGCAGC	0.677																																						ENST00000504228.1																			0				endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65						c.(1972-1974)tCt>tAt		KIAA1211							20.0	25.0	23.0					4																	57181641		1944	4117	6061	SO:0001583	missense	57482							g.chr4:57181641C>A	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.1973C>A	4.37:g.57181641C>A	ENSP00000423366:p.Ser658Tyr					KIAA1211_ENST00000264229.6_Missense_Mutation_p.S658Y|KIAA1211_ENST00000541073.1_Missense_Mutation_p.S651Y	p.S658Y			Q6ZU35	K1211_HUMAN			6	2078	+	Glioma(25;0.08)|all_neural(26;0.101)		658					Q9NTE2|Q9NTP8|Q9ULK9	Missense_Mutation	SNP	ENST00000504228.1	37	c.1973C>A	CCDS43230.1	.	.	.	.	.	.	.	.	.	.	C	17.79	3.476392	0.63737	.	.	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073;ENST00000546221	T;T;T	0.02301	4.35;4.35;4.35	4.48	3.62	0.41486	.	.	.	.	.	T	0.09818	0.0241	L	0.59436	1.845	0.19300	N	0.999973	D;D;P	0.76494	0.999;0.999;0.946	D;D;P	0.69479	0.964;0.964;0.77	T	0.05716	-1.0868	9	0.87932	D	0	-1.4726	14.3247	0.66512	0.0:0.8504:0.1496:0.0	.	651;651;658	B7ZVZ4;F5H1N7;Q6ZU35	.;.;K1211_HUMAN	Y	658;658;651;568	ENSP00000264229:S658Y;ENSP00000423366:S658Y;ENSP00000444006:S651Y	ENSP00000264229:S658Y	S	+	2	0	KIAA1211	56876398	0.063000	0.20901	0.001000	0.08648	0.005000	0.04900	3.516000	0.53436	1.057000	0.40506	0.561000	0.74099	TCT		0.677	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		5	16	5	16	---	---	---	---
HLA-DQA2	3118	broad.mit.edu	37	6	32714045	32714045	+	Silent	SNP	G	G	A			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr6:32714045G>A	ENST00000374940.3	+	4	744	c.642G>A	c.(640-642)gaG>gaA	p.E214E		NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ alpha 2	214	Connecting peptide.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					"""""""Insulin(DB00071)"""	CTATGTCAGAGCTCACAGAGA	0.557																																						ENST00000374940.3																			0				endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13						c.(640-642)gaG>gaA		major histocompatibility complex, class II, DQ alpha 2	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						167.0	163.0	164.0					6																	32714045		1511	2709	4220	SO:0001819	synonymous_variant	3118				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity	g.chr6:32714045G>A		CCDS4753.1	6p21.3	2013-01-11			ENSG00000237541	ENSG00000237541		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4943	protein-coding gene	gene with protein product		613503		HLA-DXA			Standard	NM_020056		Approved		uc003obx.3	P01906	OTTHUMG00000031108	ENST00000374940.3:c.642G>A	6.37:g.32714045G>A							p.E214E	NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN			4	744	+			214			Connecting peptide.		A2BF37|B0V0E7|O19789|Q5SQ94|Q5SR04	Silent	SNP	ENST00000374940.3	37	c.642G>A	CCDS4753.1																																																																																				0.557	HLA-DQA2-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076179.2	NM_020056		23	51	23	51	---	---	---	---
ETV1	2115	broad.mit.edu	37	7	13975392	13975392	+	Silent	SNP	G	G	A			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr7:13975392G>A	ENST00000430479.1	-	8	1162	c.495C>T	c.(493-495)ttC>ttT	p.F165F	ETV1_ENST00000476720.2_5'UTR|ETV1_ENST00000405218.2_Silent_p.F165F|ETV1_ENST00000403527.1_Silent_p.F125F|ETV1_ENST00000343495.5_Silent_p.F147F|ETV1_ENST00000242066.5_Silent_p.F147F|ETV1_ENST00000399357.3_Intron|ETV1_ENST00000405358.4_Silent_p.F179F|ETV1_ENST00000403685.1_Silent_p.F147F|ETV1_ENST00000405192.2_Silent_p.F165F|ETV1_ENST00000420159.2_Silent_p.F107F	NM_004956.4	NP_004947.2	P50549	ETV1_HUMAN	ets variant 1	165					axon guidance (GO:0007411)|cell differentiation (GO:0030154)|mechanosensory behavior (GO:0007638)|muscle organ development (GO:0007517)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						GGTGAGCTGGGAAGGCCCGGT	0.552			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""																																	ENST00000343495.5				Dom	yes		7	7p22	2115	T	ets variant gene 1			"""M, E"""	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""		"""Ewing sarcoma, prostate"""	TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(439-441)ttC>ttT		ets variant 1							206.0	213.0	211.0					7																	13975392		2121	4252	6373	SO:0001819	synonymous_variant	2115				transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:13975392G>A		CCDS55083.1, CCDS55084.1, CCDS55085.1, CCDS55086.1, CCDS55087.1, CCDS55088.1	7p22	2008-09-12	2008-09-12		ENSG00000006468	ENSG00000006468			3490	protein-coding gene	gene with protein product		600541	"""ets variant gene 1"""			1340465	Standard	NM_004956		Approved	ER81	uc003ssw.4	P50549	OTTHUMG00000152403	ENST00000430479.1:c.495C>T	7.37:g.13975392G>A						ETV1_ENST00000403685.1_Silent_p.F147F|ETV1_ENST00000403527.1_Silent_p.F125F|ETV1_ENST00000405192.2_Silent_p.F165F|ETV1_ENST00000405358.4_Silent_p.F179F|ETV1_ENST00000399357.3_Intron|ETV1_ENST00000242066.5_Silent_p.F147F|ETV1_ENST00000405218.2_Silent_p.F165F|ETV1_ENST00000430479.1_Silent_p.F165F|ETV1_ENST00000420159.2_Silent_p.F107F|ETV1_ENST00000476720.2_5'UTR	p.F147F			P50549	ETV1_HUMAN			7	1179	-			165					A4D118|B2R768|B7Z2I4|B7Z618|B7Z9P2|C9JT37|E9PHB1|F5GXR2|O75849|Q4KMQ6|Q59GA7|Q6AI30|Q9UQ71|Q9Y636	Silent	SNP	ENST00000430479.1	37	c.441C>T	CCDS55088.1																																																																																				0.552	ETV1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326111.1	NM_004956		84	70	84	70	---	---	---	---
ESCO2	157570	broad.mit.edu	37	8	27650318	27650318	+	Missense_Mutation	SNP	C	C	A			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr8:27650318C>A	ENST00000305188.8	+	9	1725	c.1487C>A	c.(1486-1488)cCc>cAc	p.P496H	ESCO2_ENST00000397418.2_Missense_Mutation_p.P144H	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 2	496					chromosome segregation (GO:0007059)|double-strand break repair (GO:0006302)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|protein localization to chromatin (GO:0071168)|regulation of DNA replication (GO:0006275)	chromatin (GO:0000785)|chromocenter (GO:0010369)|Golgi apparatus (GO:0005794)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|XY body (GO:0001741)	lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		ATTGCAGAACCCATCAAACAG	0.328									SC Phocomelia syndrome																													ENST00000305188.8																			0				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1486-1488)cCc>cAc		establishment of sister chromatid cohesion N-acetyltransferase 2							45.0	46.0	46.0					8																	27650318		2203	4292	6495	SO:0001583	missense	157570	SC Phocomelia syndrome	Familial Cancer Database	SC-Pseudothalidomide s., incl.: Roberts s.	cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding	g.chr8:27650318C>A	AF306679	CCDS34872.1	8p21.1	2013-05-02	2013-05-02		ENSG00000171320	ENSG00000171320			27230	protein-coding gene	gene with protein product		609353	"""Roberts syndrome"", ""establishment of cohesion 1 homolog 2 (S. cerevisiae)"""	RBS		15958495, 16775838, 15821733, 16380922	Standard	XR_247122		Approved	EFO2	uc003xgg.3	Q56NI9	OTTHUMG00000163901	ENST00000305188.8:c.1487C>A	8.37:g.27650318C>A	ENSP00000306999:p.Pro496His					ESCO2_ENST00000397418.2_Missense_Mutation_p.P144H	p.P496H	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)	9	1725	+		Ovarian(32;0.000953)	496					B3KW59|Q49AP4	Missense_Mutation	SNP	ENST00000305188.8	37	c.1487C>A	CCDS34872.1	.	.	.	.	.	.	.	.	.	.	C	16.95	3.264657	0.59431	.	.	ENSG00000171320	ENST00000305188;ENST00000397418	T;T	0.72835	-0.14;-0.69	5.82	3.81	0.43845	.	0.513960	0.22200	N	0.063252	T	0.50086	0.1595	N	0.17312	0.475	0.42008	D	0.99092	P	0.35507	0.506	B	0.30782	0.12	T	0.53027	-0.8496	10	0.37606	T	0.19	-9.848	10.8377	0.46696	0.1432:0.7179:0.1389:0.0	.	496	Q56NI9	ESCO2_HUMAN	H	496;144	ENSP00000306999:P496H;ENSP00000380563:P144H	ENSP00000306999:P496H	P	+	2	0	ESCO2	27706237	0.868000	0.29978	1.000000	0.80357	0.995000	0.86356	0.766000	0.26560	2.755000	0.94549	0.591000	0.81541	CCC		0.328	ESCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376276.1	NM_001017420		14	8	14	8	---	---	---	---
PEX2	5828	broad.mit.edu	37	8	77895648	77895648	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr8:77895648G>A	ENST00000419564.2	-	4	1231	c.767C>T	c.(766-768)aCc>aTc	p.T256I	PEX2_ENST00000357039.4_Missense_Mutation_p.T256I|PEX2_ENST00000522527.1_Missense_Mutation_p.T256I|PEX2_ENST00000520103.1_Missense_Mutation_p.T256I	NM_001172087.1	NP_001165558.1	P28328	PEX2_HUMAN	peroxisomal biogenesis factor 2	256					bile acid biosynthetic process (GO:0006699)|cholesterol homeostasis (GO:0042632)|fatty acid beta-oxidation (GO:0006635)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|peroxisome organization (GO:0007031)|protein destabilization (GO:0031648)|protein import into peroxisome matrix (GO:0016558)|regulation of cholesterol biosynthetic process (GO:0045540)|very long-chain fatty acid metabolic process (GO:0000038)	Cdc73/Paf1 complex (GO:0016593)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	14						ACATCCTATGGTGTGAGGCAT	0.433																																						ENST00000419564.2																			0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	14						c.(766-768)aCc>aTc		peroxisomal biogenesis factor 2							90.0	83.0	85.0					8																	77895648		2203	4300	6503	SO:0001583	missense	5828				peroxisome organization	integral to peroxisomal membrane	protein binding|zinc ion binding	g.chr8:77895648G>A	M86852	CCDS6221.1	8q21.11	2010-02-09	2010-01-25	2010-01-25		ENSG00000164751		"""RING-type (C3HC4) zinc fingers"""	9717	protein-coding gene	gene with protein product	"""Zellweger syndrome"", ""peroxin 2"""	170993	"""peroxisomal membrane protein 3 (35kD, Zellweger syndrome)"", ""peroxisomal membrane protein 3, 35kDa"""	PXMP3		1546315, 8858157	Standard	NM_000318		Approved	PMP35, PAF-1, RNF72, ZWS3	uc022awf.1	P28328		ENST00000419564.2:c.767C>T	8.37:g.77895648G>A	ENSP00000400984:p.Thr256Ile					PEX2_ENST00000520103.1_Missense_Mutation_p.T256I|PEX2_ENST00000522527.1_Missense_Mutation_p.T256I|PEX2_ENST00000357039.4_Missense_Mutation_p.T256I	p.T256I	NM_001172087.1	NP_001165558.1	P28328	PEX2_HUMAN			4	1231	-			256					Q567S6|Q9BW41	Missense_Mutation	SNP	ENST00000419564.2	37	c.767C>T	CCDS6221.1	.	.	.	.	.	.	.	.	.	.	G	17.07	3.294380	0.60086	.	.	ENSG00000164751	ENST00000357039;ENST00000419564;ENST00000520103;ENST00000522527	D;D;D;D	0.86164	-2.08;-2.08;-2.08;-2.08	5.35	5.35	0.76521	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.160623	0.53938	D	0.000045	D	0.86276	0.5894	L	0.32530	0.975	0.50632	D	0.999888	P	0.49253	0.921	P	0.49829	0.623	D	0.84419	0.0570	10	0.31617	T	0.26	-18.92	19.2714	0.94011	0.0:0.0:1.0:0.0	.	256	P28328	PEX2_HUMAN	I	256	ENSP00000349543:T256I;ENSP00000400984:T256I;ENSP00000428590:T256I;ENSP00000428638:T256I	ENSP00000349543:T256I	T	-	2	0	PEX2	78058203	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.162000	0.71874	2.792000	0.96026	0.557000	0.71058	ACC		0.433	PEX2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379122.1	NM_000318		17	92	17	92	---	---	---	---
ZNF483	158399	broad.mit.edu	37	9	114304902	114304902	+	Missense_Mutation	SNP	A	A	T			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr9:114304902A>T	ENST00000309235.5	+	6	1845	c.1687A>T	c.(1687-1689)Agc>Tgc	p.S563C	ZNF483_ENST00000358151.4_Intron	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	563					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(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						CTTCAGTCATAGCTCATCCCT	0.408																																						ENST00000309235.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						c.(1687-1689)Agc>Tgc		zinc finger protein 483							61.0	67.0	65.0					9																	114304902		2203	4300	6503	SO:0001583	missense	158399				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:114304902A>T	AB075842	CCDS35105.1, CCDS35106.1	9q32	2013-01-09			ENSG00000173258	ENSG00000173258		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23384	protein-coding gene	gene with protein product							Standard	NM_001007169		Approved	ZKSCAN16, KIAA1962, ZSCAN48	uc004bff.2	Q8TF39	OTTHUMG00000020490	ENST00000309235.5:c.1687A>T	9.37:g.114304902A>T	ENSP00000311679:p.Ser563Cys					ZNF483_ENST00000358151.4_Intron	p.S563C	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN			6	1845	+			563					Q5VZN2|Q8NAE1	Missense_Mutation	SNP	ENST00000309235.5	37	c.1687A>T	CCDS35106.1	.	.	.	.	.	.	.	.	.	.	A	14.64	2.595105	0.46318	.	.	ENSG00000173258	ENST00000309235	T	0.33216	1.42	3.84	3.84	0.44239	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.56097	D	0.000031	T	0.41581	0.1165	M	0.83223	2.63	0.24495	N	0.994287	D	0.63880	0.993	P	0.49922	0.626	T	0.42447	-0.9451	10	0.52906	T	0.07	-15.5217	6.7154	0.23300	0.79:0.0:0.0:0.2099	.	563	Q8TF39	ZN483_HUMAN	C	563	ENSP00000311679:S563C	ENSP00000311679:S563C	S	+	1	0	ZNF483	113344723	0.000000	0.05858	0.999000	0.59377	0.992000	0.81027	0.304000	0.19228	1.972000	0.57404	0.533000	0.62120	AGC		0.408	ZNF483-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053641.1	XM_088567		12	54	12	54	---	---	---	---
AP3M1	26985	broad.mit.edu	37	10	75896496	75896496	+	Missense_Mutation	SNP	T	T	G			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr10:75896496T>G	ENST00000355264.4	-	3	650	c.339A>C	c.(337-339)ttA>ttC	p.L113F	AP3M1_ENST00000372745.1_Missense_Mutation_p.L113F|AP3M1_ENST00000487653.1_5'Flank	NM_012095.4	NP_036227.1	Q9Y2T2	AP3M1_HUMAN	adaptor-related protein complex 3, mu 1 subunit	113					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|protein targeting to lysosome (GO:0006622)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	Rab GTPase binding (GO:0017137)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	13	Prostate(51;0.0112)					ACATTTCTTCTAAGAGTTCAT	0.358																																						ENST00000355264.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	13						c.(337-339)ttA>ttC		adaptor-related protein complex 3, mu 1 subunit							134.0	125.0	128.0					10																	75896496		2203	4300	6503	SO:0001583	missense	26985				protein targeting to lysosome|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus|lysosome	protein binding	g.chr10:75896496T>G	AF092092	CCDS7342.1	10q22.1-q22.3	2008-07-07			ENSG00000185009	ENSG00000185009			569	protein-coding gene	gene with protein product		610366				10024875	Standard	NM_207012		Approved		uc001jwh.3	Q9Y2T2	OTTHUMG00000018497	ENST00000355264.4:c.339A>C	10.37:g.75896496T>G	ENSP00000347408:p.Leu113Phe					AP3M1_ENST00000372745.1_Missense_Mutation_p.L113F	p.L113F	NM_012095.4	NP_036227.1	Q9Y2T2	AP3M1_HUMAN			3	650	-	Prostate(51;0.0112)		113					Q5JQ12|Q9H5L2	Missense_Mutation	SNP	ENST00000355264.4	37	c.339A>C	CCDS7342.1	.	.	.	.	.	.	.	.	.	.	T	19.56	3.850911	0.71719	.	.	ENSG00000185009	ENST00000355264;ENST00000372745	D;D	0.88509	-2.39;-2.39	5.74	0.438	0.16560	Longin-like (1);AP complex, mu/sigma subunit (1);	0.000000	0.64402	D	0.000001	D	0.93851	0.8033	M	0.91717	3.235	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.90858	0.4736	10	0.66056	D	0.02	.	6.3593	0.21419	0.1087:0.5135:0.0:0.3778	.	113	Q9Y2T2	AP3M1_HUMAN	F	113	ENSP00000347408:L113F;ENSP00000361831:L113F	ENSP00000347408:L113F	L	-	3	2	AP3M1	75566502	0.983000	0.35010	0.994000	0.49952	0.977000	0.68977	0.211000	0.17474	-0.127000	0.11661	-1.144000	0.01866	TTA		0.358	AP3M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048747.1			10	29	10	29	---	---	---	---
CCDC172	374355	broad.mit.edu	37	10	118117378	118117378	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr10:118117378G>T	ENST00000333254.3	+	7	832	c.581G>T	c.(580-582)tGt>tTt	p.C194F		NM_198515.2	NP_940917.1	P0C7W6	CC172_HUMAN	coiled-coil domain containing 172	194																	GAATCCATTTGTACTACCAAA	0.274																																						ENST00000333254.3																			0											c.(580-582)tGt>tTt		coiled-coil domain containing 172							47.0	50.0	49.0					10																	118117378		2198	4284	6482	SO:0001583	missense	374355							g.chr10:118117378G>T	BC044830	CCDS31291.1	10q26.11-q26.12	2012-05-31	2012-05-31	2012-05-31	ENSG00000182645	ENSG00000182645			30524	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 96"""	C10orf96		12477932	Standard	NM_198515		Approved	MGC35062	uc001lck.3	P0C7W6	OTTHUMG00000019098	ENST00000333254.3:c.581G>T	10.37:g.118117378G>T	ENSP00000329860:p.Cys194Phe						p.C194F	NM_198515.2	NP_940917.1					7	832	+									Missense_Mutation	SNP	ENST00000333254.3	37	c.581G>T	CCDS31291.1	.	.	.	.	.	.	.	.	.	.	G	1.635	-0.517979	0.04171	.	.	ENSG00000182645	ENST00000333254	.	.	.	5.62	-0.968	0.10313	.	1.018280	0.07820	N	0.959647	T	0.31451	0.0797	L	0.57536	1.79	0.09310	N	1	B	0.30439	0.279	B	0.26693	0.072	T	0.26573	-1.0099	9	0.10111	T	0.7	-9.1956	6.1445	0.20278	0.4902:0.0:0.3863:0.1234	.	194	P0C7W6	CJ096_HUMAN	F	194	.	ENSP00000329860:C194F	C	+	2	0	C10orf96	118107368	0.061000	0.20836	0.992000	0.48379	0.969000	0.65631	-0.142000	0.10311	0.009000	0.14813	-0.140000	0.14226	TGT		0.274	CCDC172-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050516.2	NM_198515		3	22	3	22	---	---	---	---
KNDC1	85442	broad.mit.edu	37	10	135025035	135025035	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr10:135025035G>T	ENST00000304613.3	+	22	4039	c.4018G>T	c.(4018-4020)Ggg>Tgg	p.G1340W	KNDC1_ENST00000368572.2_Missense_Mutation_p.G1342W			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1340	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		TCGGAACAGCGGGCTGCTGGG	0.667																																						ENST00000304613.3																			0				NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60						c.(4018-4020)Ggg>Tgg		kinase non-catalytic C-lobe domain (KIND) containing 1							88.0	91.0	90.0					10																	135025035		2203	4300	6503	SO:0001583	missense	85442				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			g.chr10:135025035G>T	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"""RasGEF domain family, member 2"""	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.4018G>T	10.37:g.135025035G>T	ENSP00000304437:p.Gly1340Trp					KNDC1_ENST00000368572.2_Missense_Mutation_p.G1342W	p.G1340W			Q76NI1	VKIND_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)	22	4039	+		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)	1340			N-terminal Ras-GEF.		B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	ENST00000304613.3	37	c.4018G>T	CCDS7674.1	.	.	.	.	.	.	.	.	.	.	G	10.63	1.404119	0.25291	.	.	ENSG00000171798	ENST00000304613;ENST00000368572	T;T	0.50001	0.76;0.76	3.96	2.01	0.26516	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	0.803958	0.11184	U	0.590657	T	0.57110	0.2031	L	0.43152	1.355	0.09310	N	1	D	0.76494	0.999	D	0.71414	0.973	T	0.42916	-0.9423	10	0.72032	D	0.01	-15.4731	8.8163	0.34998	0.2134:0.0:0.7866:0.0	.	1340	Q76NI1	VKIND_HUMAN	W	1340;1342	ENSP00000304437:G1340W;ENSP00000357561:G1342W	ENSP00000304437:G1340W	G	+	1	0	KNDC1	134875025	0.016000	0.18221	0.063000	0.19743	0.165000	0.22458	1.429000	0.34903	0.789000	0.33779	0.297000	0.19635	GGG		0.667	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643		30	40	30	40	---	---	---	---
PIWIL1	9271	broad.mit.edu	37	12	130841508	130841508	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr12:130841508G>T	ENST00000245255.3	+	13	1722	c.1450G>T	c.(1450-1452)Ggt>Tgt	p.G484C		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	484					gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)|P granule (GO:0043186)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)|single-stranded RNA binding (GO:0003727)			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		AGAAACAAGAGGTGCACCATT	0.353																																						ENST00000245255.3																			0				breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57						c.(1450-1452)Ggt>Tgt		piwi-like RNA-mediated gene silencing 1							103.0	95.0	98.0					12																	130841508		2203	4300	6503	SO:0001583	missense	9271				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding	g.chr12:130841508G>T	AF104260	CCDS9268.1	12q24.33	2014-01-21	2013-02-15		ENSG00000125207	ENSG00000125207		"""Argonaute/PIWI family"""	9007	protein-coding gene	gene with protein product		605571	"""piwi (Drosophila)-like 1"", ""piwi-like 1 (Drosophila)"""			9851978, 12906857	Standard	NM_004764		Approved	PIWI, HIWI, CT80.1	uc001uik.3	Q96J94	OTTHUMG00000168382	ENST00000245255.3:c.1450G>T	12.37:g.130841508G>T	ENSP00000245255:p.Gly484Cys						p.G484C	NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)	13	1722	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		484					A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Missense_Mutation	SNP	ENST00000245255.3	37	c.1450G>T	CCDS9268.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.998547	0.74818	.	.	ENSG00000125207	ENST00000245255	T	0.14640	2.49	5.41	4.51	0.55191	Ribonuclease H-like (1);	0.046949	0.85682	D	0.000000	T	0.34337	0.0894	M	0.72118	2.19	0.53688	D	0.999977	D;D	0.76494	0.996;0.999	P;D	0.68621	0.784;0.959	T	0.04693	-1.0933	10	0.62326	D	0.03	-17.2893	13.6369	0.62227	0.0762:0.0:0.9238:0.0	.	484;484	Q96J94;Q96J94-2	PIWL1_HUMAN;.	C	484	ENSP00000245255:G484C	ENSP00000245255:G484C	G	+	1	0	PIWIL1	129407461	1.000000	0.71417	0.333000	0.25482	0.947000	0.59692	6.546000	0.73887	2.512000	0.84698	0.655000	0.94253	GGT		0.353	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399510.1			6	39	6	39	---	---	---	---
PIWIL1	9271	broad.mit.edu	37	12	130851735	130851735	+	Missense_Mutation	SNP	G	G	C			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr12:130851735G>C	ENST00000245255.3	+	19	2525	c.2253G>C	c.(2251-2253)caG>caC	p.Q751H	PIWIL1_ENST00000541480.1_3'UTR	NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	751	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)|P granule (GO:0043186)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)|single-stranded RNA binding (GO:0003727)			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		TTTTTGCTCAGTCTGGAGGAA	0.398																																						ENST00000245255.3																			0				breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57						c.(2251-2253)caG>caC		piwi-like RNA-mediated gene silencing 1							167.0	153.0	158.0					12																	130851735		2203	4300	6503	SO:0001583	missense	9271				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding	g.chr12:130851735G>C	AF104260	CCDS9268.1	12q24.33	2014-01-21	2013-02-15		ENSG00000125207	ENSG00000125207		"""Argonaute/PIWI family"""	9007	protein-coding gene	gene with protein product		605571	"""piwi (Drosophila)-like 1"", ""piwi-like 1 (Drosophila)"""			9851978, 12906857	Standard	NM_004764		Approved	PIWI, HIWI, CT80.1	uc001uik.3	Q96J94	OTTHUMG00000168382	ENST00000245255.3:c.2253G>C	12.37:g.130851735G>C	ENSP00000245255:p.Gln751His					PIWIL1_ENST00000541480.1_3'UTR	p.Q751H	NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)	19	2525	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		751			Piwi.		A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Missense_Mutation	SNP	ENST00000245255.3	37	c.2253G>C	CCDS9268.1	.	.	.	.	.	.	.	.	.	.	G	13.07	2.126999	0.37533	.	.	ENSG00000125207	ENST00000245255	T	0.31510	1.49	5.78	3.98	0.46160	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.437390	0.26207	N	0.025708	T	0.19604	0.0471	L	0.28274	0.84	0.34223	D	0.67563	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.003	T	0.12451	-1.0547	10	0.48119	T	0.1	-19.3782	6.563	0.22497	0.1479:0.0:0.7071:0.1449	.	751;751	Q96J94;Q96J94-2	PIWL1_HUMAN;.	H	751	ENSP00000245255:Q751H	ENSP00000245255:Q751H	Q	+	3	2	PIWIL1	129417688	0.002000	0.14202	1.000000	0.80357	0.988000	0.76386	0.091000	0.15046	0.805000	0.34159	0.591000	0.81541	CAG		0.398	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399510.1			40	46	40	46	---	---	---	---
VRTN	55237	broad.mit.edu	37	14	74824966	74824966	+	Missense_Mutation	SNP	C	C	T	rs144045913		TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr14:74824966C>T	ENST00000256362.4	+	2	1721	c.1480C>T	c.(1480-1482)Ccc>Tcc	p.P494S		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	494					transposition, DNA-mediated (GO:0006313)		sequence-specific DNA binding (GO:0043565)|transposase activity (GO:0004803)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						CCCTCCCGCCCCCGGGGAGCT	0.652																																						ENST00000256362.4																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						c.(1480-1482)Ccc>Tcc		vertebrae development associated		C	SER/PRO	0,4396		0,0,2198	30.0	37.0	34.0		1480	-1.3	0.0	14	dbSNP_134	34	1,8575		0,1,4287	no	missense	VRTN	NM_018228.2	74	0,1,6485	TT,TC,CC		0.0117,0.0,0.0077	benign	494/703	74824966	1,12971	2198	4288	6486	SO:0001583	missense	55237				transposition, DNA-mediated		DNA binding|transposase activity	g.chr14:74824966C>T	AK001673	CCDS9830.1	14q24.2	2012-12-07	2012-12-07	2010-10-20	ENSG00000133980	ENSG00000133980			20223	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 115"", ""vertebrae development homolog (pig)"""	C14orf115		21232157	Standard	NM_018228		Approved	FLJ10811, vertnin	uc001xpw.4	Q9H8Y1	OTTHUMG00000171208	ENST00000256362.4:c.1480C>T	14.37:g.74824966C>T	ENSP00000256362:p.Pro494Ser						p.P494S	NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN			2	1721	+			494					Q9NVC7	Missense_Mutation	SNP	ENST00000256362.4	37	c.1480C>T	CCDS9830.1	.	.	.	.	.	.	.	.	.	.	C	4.507	0.094074	0.08632	0.0	1.17E-4	ENSG00000133980	ENST00000256362	T	0.39787	1.06	4.19	-1.31	0.09230	.	0.394257	0.24447	N	0.038456	T	0.17152	0.0412	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.24905	-1.0147	10	0.08179	T	0.78	-7.2282	5.9701	0.19346	0.0:0.3418:0.3539:0.3043	.	494	Q9H8Y1	VRTN_HUMAN	S	494	ENSP00000256362:P494S	ENSP00000256362:P494S	P	+	1	0	VRTN	73894719	0.000000	0.05858	0.004000	0.12327	0.003000	0.03518	-0.874000	0.04210	0.066000	0.16515	0.491000	0.48974	CCC		0.652	VRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412339.1	NM_018228		16	39	16	39	---	---	---	---
SERPINA9	327657	broad.mit.edu	37	14	94929536	94929536	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr14:94929536G>T	ENST00000380365.3	-	5	1226	c.1148C>A	c.(1147-1149)tCt>tAt	p.S383Y	SERPINA9_ENST00000298845.7_Missense_Mutation_p.S301Y|SERPINA9_ENST00000337425.5_Missense_Mutation_p.S401Y|SERPINA9_ENST00000448305.2_Missense_Mutation_p.S303Y|SERPINA9_ENST00000424550.2_Missense_Mutation_p.S252Y|RP11-349I1.2_ENST00000536735.1_RNA			Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	383					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		AGTGAAGTAAGAGGGGCCATC	0.488																																						ENST00000337425.5																			0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21						c.(1201-1203)tCt>tAt		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9							153.0	154.0	154.0					14																	94929536		2079	4196	6275	SO:0001583	missense	327657				regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity	g.chr14:94929536G>T	AY185497	CCDS41982.1, CCDS41983.1, CCDS61542.1	14q32.1	2014-02-18	2005-08-18		ENSG00000170054	ENSG00000170054		"""Serine (or cysteine) peptidase inhibitors"""	15995	protein-coding gene	gene with protein product		615677	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9"""			24172014	Standard	NM_175739		Approved	CENTERIN, SERPINA11b, GCET1	uc001ydf.3	Q86WD7	OTTHUMG00000167710	ENST00000380365.3:c.1148C>A	14.37:g.94929536G>T	ENSP00000369723:p.Ser383Tyr					SERPINA9_ENST00000424550.2_Missense_Mutation_p.S252Y|RP11-349I1.2_ENST00000536735.1_RNA|SERPINA9_ENST00000298845.7_Missense_Mutation_p.S301Y|SERPINA9_ENST00000380365.3_Missense_Mutation_p.S383Y|SERPINA9_ENST00000448305.2_Missense_Mutation_p.S303Y	p.S401Y	NM_175739.3	NP_783866.2	Q86WD7	SPA9_HUMAN		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)	5	1276	-		all_cancers(154;0.0691)|all_epithelial(191;0.233)	383					B4DVH4|B9ZVX3|Q2T9J2|Q6UWP9|Q86WD4|Q86WD5|Q86WD6|Q86YP6|Q86YP7	Missense_Mutation	SNP	ENST00000380365.3	37	c.1202C>A		.	.	.	.	.	.	.	.	.	.	G	14.20	2.465925	0.43839	.	.	ENSG00000170054	ENST00000448305;ENST00000298845;ENST00000424550;ENST00000337425;ENST00000380365	D;D;D;D;D	0.85339	-1.97;-1.97;-1.97;-1.97;-1.97	4.21	0.0189	0.14118	.	1.073310	0.07570	U	0.918416	T	0.80660	0.4665	L	0.47190	1.495	0.09310	N	1	P;B;P	0.50156	0.801;0.064;0.932	P;B;P	0.50659	0.476;0.064;0.647	T	0.66217	-0.5979	10	0.02654	T	1	.	5.4523	0.16572	0.2614:0.0:0.597:0.1416	.	303;401;301	Q86WD7-6;Q86WD7-7;Q86WD7-2	.;.;.	Y	303;301;252;401;383	ENSP00000414092:S303Y;ENSP00000298845:S301Y;ENSP00000409012:S252Y;ENSP00000337133:S401Y;ENSP00000369723:S383Y	ENSP00000298845:S301Y	S	-	2	0	SERPINA9	93999289	0.000000	0.05858	0.004000	0.12327	0.132000	0.20833	-0.802000	0.04545	0.184000	0.20083	0.561000	0.74099	TCT		0.488	SERPINA9-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395803.2	NM_175739		8	48	8	48	---	---	---	---
SLC12A6	9990	broad.mit.edu	37	15	34527452	34527452	+	Silent	SNP	C	C	T			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr15:34527452C>T	ENST00000354181.3	-	25	3783	c.3291G>A	c.(3289-3291)aaG>aaA	p.K1097K	SLC12A6_ENST00000451844.2_Silent_p.K909K|SLC12A6_ENST00000560611.1_Silent_p.K1097K|SLC12A6_ENST00000558667.1_Silent_p.K1097K|SLC12A6_ENST00000560164.1_Silent_p.K909K|SLC12A6_ENST00000397702.2_Silent_p.K1038K|SLC12A6_ENST00000458406.2_Silent_p.K1038K|SLC12A6_ENST00000558589.1_Silent_p.K1088K|SLC12A6_ENST00000290209.5_Silent_p.K1046K|SLC12A6_ENST00000397707.2_Silent_p.K1082K			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	1097					angiogenesis (GO:0001525)|cellular hypotonic response (GO:0071476)|cellular hypotonic salinity response (GO:0071477)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|rubidium ion transport (GO:0035826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium ion transmembrane transporter activity (GO:0015079)|potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)|rubidium ion transmembrane transporter activity (GO:0035827)			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	CTTCATGGGACTTGTTAACTA	0.458																																						ENST00000354181.3																			0				central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45						c.(3289-3291)aaG>aaA		solute carrier family 12 (potassium/chloride transporter), member 6	Potassium Chloride(DB00761)						115.0	108.0	110.0					15																	34527452		2201	4298	6499	SO:0001819	synonymous_variant	9990				angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity	g.chr15:34527452C>T	AF108831	CCDS10036.1, CCDS42010.1, CCDS42011.1, CCDS42012.1, CCDS58352.1	15q13	2014-09-17	2013-07-18		ENSG00000140199	ENSG00000140199		"""Solute carriers"""	10914	protein-coding gene	gene with protein product		604878	"""agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome)"""	KCC3, ACCPN		10187864, 10347194	Standard	NM_133647		Approved		uc001zhw.3	Q9UHW9	OTTHUMG00000129441	ENST00000354181.3:c.3291G>A	15.37:g.34527452C>T						SLC12A6_ENST00000290209.5_Silent_p.K1046K|SLC12A6_ENST00000397707.2_Silent_p.K1082K|SLC12A6_ENST00000397702.2_Silent_p.K1038K|SLC12A6_ENST00000558589.1_Silent_p.K1088K|SLC12A6_ENST00000458406.2_Silent_p.K1038K|SLC12A6_ENST00000560611.1_Silent_p.K1097K|SLC12A6_ENST00000558667.1_Silent_p.K1097K|SLC12A6_ENST00000451844.2_Silent_p.K909K|SLC12A6_ENST00000560164.1_Silent_p.K909K	p.K1097K			Q9UHW9	S12A6_HUMAN		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	25	3783	-		all_lung(180;2.78e-08)	1097					A0AV76|Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	Silent	SNP	ENST00000354181.3	37	c.3291G>A	CCDS58352.1																																																																																				0.458	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000417991.1	NM_005135		9	18	9	18	---	---	---	---
ZNF646	9726	broad.mit.edu	37	16	31090753	31090753	+	Silent	SNP	C	C	T			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr16:31090753C>T	ENST00000394979.2	+	1	3531	c.3108C>T	c.(3106-3108)ctC>ctT	p.L1036L	ZNF646_ENST00000300850.5_Silent_p.L1036L			O15015	ZN646_HUMAN	zinc finger protein 646	1036					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						GAGACAGCCTCTGCATCCAGG	0.597																																						ENST00000394979.2																			0				NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						c.(3106-3108)ctC>ctT		zinc finger protein 646							105.0	106.0	106.0					16																	31090753		2197	4300	6497	SO:0001819	synonymous_variant	9726				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr16:31090753C>T	AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"""Zinc fingers, C2H2-type"""	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.3108C>T	16.37:g.31090753C>T						ZNF646_ENST00000300850.5_Silent_p.L1036L	p.L1036L			O15015	ZN646_HUMAN			1	3531	+			1036					Q8IVD8	Silent	SNP	ENST00000394979.2	37	c.3108C>T																																																																																					0.597	ZNF646-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000108510.2	NM_014699		64	52	64	52	---	---	---	---
NOB1	28987	broad.mit.edu	37	16	69786182	69786182	+	Missense_Mutation	SNP	A	A	G			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr16:69786182A>G	ENST00000268802.5	-	3	318	c.289T>C	c.(289-291)Ttt>Ctt	p.F97L		NM_014062.1	NP_054781.1	Q9ULX3	NOB1_HUMAN	NIN1/RPN12 binding protein 1 homolog (S. cerevisiae)	97	PINc.				visual perception (GO:0007601)	nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						ACCCCAACAAACTCTGCTTCC	0.433																																						ENST00000268802.5																			0				breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(289-291)Ttt>Ctt		NIN1/RPN12 binding protein 1 homolog (S. cerevisiae)							171.0	164.0	166.0					16																	69786182		2198	4300	6498	SO:0001583	missense	28987					nucleus	metal ion binding|protein binding	g.chr16:69786182A>G	AB026125	CCDS10884.1	16q22.1	2008-02-05	2006-04-20	2006-04-20	ENSG00000141101	ENSG00000141101			29540	protein-coding gene	gene with protein product	"""nin one binding protein"""	613586	"""PSMD8 binding protein 1"""	PSMD8BP1		16172919	Standard	NM_014062		Approved	NOB1P, ART-4, MST158	uc002exs.4	Q9ULX3	OTTHUMG00000137576	ENST00000268802.5:c.289T>C	16.37:g.69786182A>G	ENSP00000268802:p.Phe97Leu						p.F97L	NM_014062.1	NP_054781.1	Q9ULX3	NOB1_HUMAN			3	318	-			97			PINc.		Q7L6B7|Q7M4M4|Q7Z4B5|Q9NWB0	Missense_Mutation	SNP	ENST00000268802.5	37	c.289T>C	CCDS10884.1	.	.	.	.	.	.	.	.	.	.	A	9.399	1.077474	0.20227	.	.	ENSG00000141101	ENST00000268802	T	0.27890	1.64	5.21	4.1	0.47936	Nucleotide binding protein, PINc (1);	1.962480	0.01889	N	0.038403	T	0.11836	0.0288	N	0.01228	-0.945	0.23546	N	0.997446	B	0.02656	0.0	B	0.01281	0.0	T	0.32241	-0.9914	9	.	.	.	.	3.8791	0.09071	0.6313:0.0:0.1623:0.2064	.	97	Q9ULX3	NOB1_HUMAN	L	97	ENSP00000268802:F97L	.	F	-	1	0	NOB1	68343683	0.977000	0.34250	0.956000	0.39512	0.992000	0.81027	1.444000	0.35068	2.077000	0.62373	0.533000	0.62120	TTT		0.433	NOB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268958.2	NM_014062		8	52	8	52	---	---	---	---
MYH1	4619	broad.mit.edu	37	17	10399704	10399704	+	Missense_Mutation	SNP	C	C	A			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr17:10399704C>A	ENST00000226207.5	-	34	4913	c.4819G>T	c.(4819-4821)Gct>Tct	p.A1607S	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1607					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTGATCTCAGCATCCAGTGTG	0.463																																						ENST00000226207.5																			0				NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						c.(4819-4821)Gct>Tct		myosin, heavy chain 1, skeletal muscle, adult							261.0	228.0	239.0					17																	10399704		2203	4300	6503	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10399704C>A		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.4819G>T	17.37:g.10399704C>A	ENSP00000226207:p.Ala1607Ser					CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	p.A1607S	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN			34	4913	-			1607					Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.4819G>T	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	C	11.90	1.775458	0.31411	.	.	ENSG00000109061	ENST00000226207	T	0.78364	-1.17	5.42	5.42	0.78866	Myosin tail (1);	0.000000	0.42964	U	0.000638	T	0.70343	0.3213	L	0.31420	0.93	0.48975	D	0.999733	B	0.21147	0.052	B	0.26517	0.07	T	0.63532	-0.6616	10	0.20046	T	0.44	.	19.573	0.95428	0.0:1.0:0.0:0.0	.	1607	P12882	MYH1_HUMAN	S	1607	ENSP00000226207:A1607S	ENSP00000226207:A1607S	A	-	1	0	MYH1	10340429	0.986000	0.35501	1.000000	0.80357	0.997000	0.91878	2.721000	0.47260	2.687000	0.91594	0.655000	0.94253	GCT		0.463	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		27	95	27	95	---	---	---	---
SPOP	8405	broad.mit.edu	37	17	47696688	47696688	+	Missense_Mutation	SNP	T	T	G			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr17:47696688T>G	ENST00000393328.2	-	5	625	c.260A>C	c.(259-261)tAc>tCc	p.Y87S	SPOP_ENST00000513080.1_5'UTR|SPOP_ENST00000503676.1_Missense_Mutation_p.Y87S|SPOP_ENST00000393331.3_Missense_Mutation_p.Y87S|SPOP_ENST00000347630.2_Missense_Mutation_p.Y87S|SPOP_ENST00000504102.1_Missense_Mutation_p.Y87S	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	87	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.Y87C(2)|p.Y87S(2)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						CAGTAACAGGTAAAGTGACAG	0.403										Prostate(2;0.17)																												ENST00000393331.3																			4	Substitution - Missense(4)	p.Y87C(2)|p.Y87S(2)	prostate(4)	endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(259-261)tAc>tCc		speckle-type POZ protein							114.0	107.0	109.0					17																	47696688		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696688T>G	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"""BTB/POZ domain containing"""	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.260A>C	17.37:g.47696688T>G	ENSP00000377001:p.Tyr87Ser	Prostate(2;0.17)				SPOP_ENST00000393328.2_Missense_Mutation_p.Y87S|SPOP_ENST00000503676.1_Missense_Mutation_p.Y87S|SPOP_ENST00000513080.1_5'UTR|SPOP_ENST00000347630.2_Missense_Mutation_p.Y87S|SPOP_ENST00000504102.1_Missense_Mutation_p.Y87S	p.Y87S	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			6	730	-			87			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.260A>C	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	T	25.6	4.659213	0.88154	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121;ENST00000515508	T;T;T;T;T;T;T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38	5.52	5.52	0.82312	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	D	0.84875	0.5569	M	0.90019	3.08	0.80722	D	1	P	0.46512	0.879	D	0.71870	0.975	D	0.86577	0.1851	10	0.51188	T	0.08	-9.2801	15.4649	0.75390	0.0:0.0:0.0:1.0	.	87	O43791	SPOP_HUMAN	S	87;87;87;87;87;40;87;87;87;87;87	ENSP00000377001:Y87S;ENSP00000377004:Y87S;ENSP00000240327:Y87S;ENSP00000425905:Y87S;ENSP00000420908:Y87S;ENSP00000426986:Y87S;ENSP00000420960:Y87S;ENSP00000426262:Y87S;ENSP00000424119:Y87S;ENSP00000426537:Y87S	ENSP00000240327:Y87S	Y	-	2	0	SPOP	45051687	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.864000	0.87037	2.317000	0.78254	0.460000	0.39030	TAC		0.403	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		45	40	45	40	---	---	---	---
VAV1	7409	broad.mit.edu	37	19	6854100	6854100	+	Silent	SNP	C	C	A			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr19:6854100C>A	ENST00000602142.1	+	26	2557	c.2475C>A	c.(2473-2475)atC>atA	p.I825I	VAV1_ENST00000596764.1_Silent_p.I793I|VAV1_ENST00000539284.1_Silent_p.I728I|VAV1_ENST00000599806.1_Silent_p.I770I|VAV1_ENST00000304076.2_Silent_p.I803I	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	825	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						GAGGGGAGATCTATGGCCGGG	0.612																																						ENST00000304076.2																			0				biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						c.(2407-2409)atC>atA		vav 1 guanine nucleotide exchange factor							77.0	67.0	70.0					19																	6854100		2203	4300	6503	SO:0001819	synonymous_variant	7409				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr19:6854100C>A		CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12657	protein-coding gene	gene with protein product		164875	"""vav 1 oncogene"""	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.2475C>A	19.37:g.6854100C>A						VAV1_ENST00000596764.1_Silent_p.I793I|VAV1_ENST00000602142.1_Silent_p.I825I|VAV1_ENST00000599806.1_Silent_p.I770I|VAV1_ENST00000539284.1_Silent_p.I728I	p.I803I	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN			25	2503	+			825			SH3 2.		B4DVK9|M0QXX6|Q15860	Silent	SNP	ENST00000602142.1	37	c.2409C>A	CCDS12174.1																																																																																				0.612	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1			3	40	3	40	---	---	---	---
CLASRP	11129	broad.mit.edu	37	19	45561124	45561124	+	Missense_Mutation	SNP	A	A	C			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr19:45561124A>C	ENST00000221455.3	+	7	679	c.581A>C	c.(580-582)aAc>aCc	p.N194T	CLASRP_ENST00000544944.2_Missense_Mutation_p.N194T|CLASRP_ENST00000391953.4_Missense_Mutation_p.N132T	NM_007056.2	NP_008987	Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	194					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						GAGGAGAGCAACTCGGACGAA	0.617																																						ENST00000544944.2																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						c.(580-582)aAc>aCc		CLK4-associating serine/arginine rich protein							176.0	116.0	137.0					19																	45561124		2203	4300	6503	SO:0001583	missense	11129				mRNA processing|RNA splicing	nucleus		g.chr19:45561124A>C	AF042800	CCDS12652.2, CCDS62710.1	19q13.3	2010-09-21	2010-09-21	2010-09-21	ENSG00000104859	ENSG00000104859			17731	protein-coding gene	gene with protein product	"""Clk4 associating SR-related protein"""		"""splicing factor, arginine/serine-rich 16"""	SFRS16		12169693	Standard	NM_007056		Approved	SWAP2, CLASP	uc002pak.3	Q8N2M8	OTTHUMG00000150189	ENST00000221455.3:c.581A>C	19.37:g.45561124A>C	ENSP00000221455:p.Asn194Thr					CLASRP_ENST00000221455.3_Missense_Mutation_p.N194T|CLASRP_ENST00000391953.4_Missense_Mutation_p.N132T	p.N194T			Q8N2M8	CLASR_HUMAN			6	1273	+			194					B4DDT8|F8WAG9|O96026|Q6UW71|Q96DX2	Missense_Mutation	SNP	ENST00000221455.3	37	c.581A>C	CCDS12652.2	.	.	.	.	.	.	.	.	.	.	A	21.8	4.201106	0.79015	.	.	ENSG00000104859	ENST00000221455;ENST00000391952;ENST00000391953;ENST00000544944	T;T;T;T	0.46063	1.51;1.5;0.88;1.5	5.48	5.48	0.80851	.	0.000000	0.39475	U	0.001350	T	0.26376	0.0644	N	0.08118	0	0.40877	D	0.983968	P;P;P	0.43287	0.73;0.802;0.702	B;B;B	0.41236	0.351;0.33;0.116	T	0.15235	-1.0444	10	0.39692	T	0.17	-40.7112	13.5244	0.61586	1.0:0.0:0.0:0.0	.	132;194;194	F8WAG9;F5H0Q6;Q8N2M8	.;.;CLASR_HUMAN	T	194;194;132;194	ENSP00000221455:N194T;ENSP00000375814:N194T;ENSP00000375815:N132T;ENSP00000438702:N194T	ENSP00000221455:N194T	N	+	2	0	CLASRP	50252964	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.816000	0.75247	2.086000	0.62901	0.455000	0.32223	AAC		0.617	CLASRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316749.1	NM_007056		12	13	12	13	---	---	---	---
TRPC5	7224	broad.mit.edu	37	X	111095551	111095551	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chrX:111095551G>A	ENST00000262839.2	-	5	2270	c.1352C>T	c.(1351-1353)tCc>tTc	p.S451F		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	451					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						AATCTTCAGGGAAATAGTTGC	0.418																																						ENST00000262839.2																			0				biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(1351-1353)tCc>tTc		transient receptor potential cation channel, subfamily C, member 5							142.0	119.0	127.0					X																	111095551		2203	4300	6503	SO:0001583	missense	7224				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chrX:111095551G>A	AF054568	CCDS14561.1	Xq23	2014-06-13			ENSG00000072315	ENSG00000072315		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12337	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 159"""	300334				10493832, 16382100	Standard	NM_012471		Approved	PPP1R159	uc004epl.1	Q9UL62	OTTHUMG00000022212	ENST00000262839.2:c.1352C>T	X.37:g.111095551G>A	ENSP00000262839:p.Ser451Phe						p.S451F	NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN			5	2270	-			451					B2RP53|O75233|Q5JXY8|Q9Y514	Missense_Mutation	SNP	ENST00000262839.2	37	c.1352C>T	CCDS14561.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.949262	0.92660	.	.	ENSG00000072315	ENST00000262839	D	0.98264	-4.83	5.84	5.84	0.93424	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98648	0.9547	L	0.57536	1.79	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.83275	0.987;0.996	D	0.99790	1.1031	10	0.51188	T	0.08	-2.1385	19.057	0.93069	0.0:0.0:1.0:0.0	.	452;451	Q59G51;Q9UL62	.;TRPC5_HUMAN	F	451	ENSP00000262839:S451F	ENSP00000262839:S451F	S	-	2	0	TRPC5	110982207	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.814000	0.99346	2.449000	0.82847	0.600000	0.82982	TCC		0.418	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057945.1	NM_012471		43	7	43	7	---	---	---	---
OCRL	4952	broad.mit.edu	37	X	128679013	128679013	+	Splice_Site	SNP	A	A	C			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chrX:128679013A>C	ENST00000371113.4	+	3	363	c.198A>C	c.(196-198)caA>caC	p.Q66H	OCRL_ENST00000486673.1_3'UTR|OCRL_ENST00000357121.5_Splice_Site_p.Q66H	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	66	PH.				cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						GATGTGTTCAAGGTACTAGCT	0.333																																						ENST00000371113.4																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						c.(196-198)caA>caC		oculocerebrorenal syndrome of Lowe							151.0	132.0	139.0					X																	128679013		2203	4300	6503	SO:0001630	splice_region_variant	4952				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding	g.chrX:128679013A>C	U57627	CCDS35393.1, CCDS35394.1	Xq25	2014-06-18			ENSG00000122126	ENSG00000122126			8108	protein-coding gene	gene with protein product		300535					Standard	NM_001587		Approved	OCRL1	uc004euq.3	Q01968	OTTHUMG00000022706	ENST00000371113.4:c.199+1A>C	X.37:g.128679013A>C						OCRL_ENST00000357121.5_Splice_Site_p.Q66H|OCRL_ENST00000486673.1_3'UTR	p.Q66H	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN			3	363	+			66					A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Splice_Site	SNP	ENST00000371113.4	37	c.198A>C	CCDS35393.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.027400	0.75390	.	.	ENSG00000122126	ENST00000371113;ENST00000357121	D;D	0.94537	-3.45;-3.45	5.36	5.36	0.76844	.	0.145098	0.48767	D	0.000169	D	0.94000	0.8078	L	0.29908	0.895	0.80722	D	1	D;D	0.71674	0.998;0.973	D;P	0.63113	0.911;0.751	D	0.93942	0.7224	10	0.56958	D	0.05	.	10.6368	0.45569	1.0:0.0:0.0:0.0	.	66;66	Q01968-2;Q01968	.;OCRL_HUMAN	H	66	ENSP00000360154:Q66H;ENSP00000349635:Q66H	ENSP00000349635:Q66H	Q	+	3	2	OCRL	128506694	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.786000	0.62425	1.780000	0.52325	0.417000	0.27973	CAA		0.333	OCRL-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058917.1	NM_000276	Missense_Mutation	23	2	23	2	---	---	---	---
ZDHHC5	25921	broad.mit.edu	37	11	57466440	57466440	+	Frame_Shift_Del	DEL	A	A	-			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr11:57466440delA	ENST00000287169.3	+	11	2894	c.1532delA	c.(1531-1533)gaafs	p.E511fs	ZDHHC5_ENST00000527985.1_Frame_Shift_Del_p.E458fs	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC-type containing 5	511					protein palmitoylation (GO:0018345)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						CAGCAACGGGAAGCTGAGAGG	0.602																																						ENST00000287169.3																			0				endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						c.(1531-1533)gaafs		zinc finger, DHHC-type containing 5							62.0	58.0	59.0					11																	57466440		2201	4296	6497	SO:0001589	frameshift_variant	25921					integral to membrane	acyltransferase activity|zinc ion binding	g.chr11:57466440delA	AB051535	CCDS7965.1	11q13.1	2008-05-02			ENSG00000156599	ENSG00000156599		"""Zinc fingers, DHHC-type"""	18472	protein-coding gene	gene with protein product		614586				11214970	Standard	NM_015457		Approved	KIAA1748, ZNF375	uc001nkx.1	Q9C0B5	OTTHUMG00000167198	ENST00000287169.3:c.1532delA	11.37:g.57466440delA	ENSP00000287169:p.Glu511fs					ZDHHC5_ENST00000527985.1_Frame_Shift_Del_p.E458fs	p.E511fs	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN			11	2894	+			511					Q2TGF0|Q6ZMF0|Q8TAK8|Q9H923|Q9UFI7	Frame_Shift_Del	DEL	ENST00000287169.3	37	c.1532delA	CCDS7965.1																																																																																				0.602	ZDHHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393694.1	NM_015457		14	31	14	31	---	---	---	---
F8	2157	broad.mit.edu	37	X	154158843	154158844	+	Frame_Shift_Ins	INS	-	-	T			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chrX:154158843_154158844insT	ENST00000360256.4	-	14	3421_3422	c.3221_3222insA	c.(3220-3222)aatfs	p.N1074fs		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1074	B.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AAGCTGTAGCATTTTTGTCCAT	0.356																																						ENST00000360256.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120						c.(3220-3222)aatfs		coagulation factor VIII, procoagulant component	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)																																			SO:0001589	frameshift_variant	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154158843_154158844insT	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.3222dupA	X.37:g.154158848_154158848dupT	ENSP00000353393:p.Asn1074fs						p.N1074fs	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN			14	3421_3422	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		1074			B.		Q14286|Q5HY69	Frame_Shift_Ins	INS	ENST00000360256.4	37	c.3221_3222insA	CCDS35457.1																																																																																				0.356	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			42	27	42	27	---	---	---	---
