#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
KRT72	140807	broad.mit.edu	37	12	52981595	52981595	+	Missense_Mutation	SNP	C	C	T	rs184630537		TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr12:52981595C>T	ENST00000537672.2	-	7	1140	c.1130G>A	c.(1129-1131)cGg>cAg	p.R377Q	KRT72_ENST00000293745.2_Missense_Mutation_p.R377Q|KRT72_ENST00000398066.3_Missense_Mutation_p.R189Q|KRT72_ENST00000354310.4_Missense_Mutation_p.R335Q	NM_001146225.1	NP_001139697.1	Q14CN4	K2C72_HUMAN	keratin 72	377	Coil 2.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		GCAGTCCCCCCGCTGTTCAGC	0.627													C|||	1	0.000199681	0.0	0.0	5008	,	,		19712	0.0		0.001	False		,,,				2504	0.0					ENST00000293745.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36						c.(1129-1131)cGg>cAg		keratin 72							48.0	46.0	47.0					12																	52981595		2203	4300	6503	SO:0001583	missense	140807					keratin filament	structural molecule activity	g.chr12:52981595C>T	AY033495	CCDS8833.1, CCDS53795.1	12q13.13	2013-06-25			ENSG00000170486	ENSG00000170486		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28932	protein-coding gene	gene with protein product		608246				12648212, 11703281, 16831889	Standard	NM_080747		Approved	K6IRS2, KRT6IRS2, KRT6, K6irs	uc001saq.2	Q14CN4	OTTHUMG00000169744	ENST00000537672.2:c.1130G>A	12.37:g.52981595C>T	ENSP00000441160:p.Arg377Gln					KRT72_ENST00000354310.4_Missense_Mutation_p.R335Q|KRT72_ENST00000398066.3_Missense_Mutation_p.R189Q|KRT72_ENST00000537672.2_Missense_Mutation_p.R377Q	p.R377Q	NM_080747.2	NP_542785.1	Q14CN4	K2C72_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.195)	7	1215	-			377			Coil 2.|Rod.		B4DEI8|H9KV51|Q8NA87|Q8WWY9|Q8WWZ0	Missense_Mutation	SNP	ENST00000537672.2	37	c.1130G>A	CCDS8833.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	16.19	3.053046	0.55218	.	.	ENSG00000170486	ENST00000537672;ENST00000293745;ENST00000354310;ENST00000398066	D;D;D;D	0.89875	-2.58;-2.58;-2.58;-2.58	4.92	3.1	0.35709	Filament (1);	0.132643	0.33813	N	0.004536	D	0.90635	0.7063	M	0.84326	2.69	0.34984	D	0.75432	D;D	0.55800	0.973;0.973	P;P	0.50537	0.643;0.643	D	0.91001	0.4842	10	0.22706	T	0.39	.	12.0457	0.53479	0.0:0.8621:0.0:0.1379	.	335;377	B4DEI8;Q14CN4	.;K2C72_HUMAN	Q	377;377;335;189	ENSP00000441160:R377Q;ENSP00000293745:R377Q;ENSP00000346269:R335Q;ENSP00000446151:R189Q	ENSP00000293745:R377Q	R	-	2	0	KRT72	51267862	0.001000	0.12720	0.708000	0.30435	0.002000	0.02628	0.754000	0.26390	0.747000	0.32809	-0.806000	0.03193	CGG		0.627	KRT72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405693.1	NM_080747		4	40	0	0	0	1	0	4	40				
EFTUD2	9343	broad.mit.edu	37	17	42941093	42941093	+	Missense_Mutation	SNP	T	T	C			TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr17:42941093T>C	ENST00000426333.2	-	15	1640	c.1343A>G	c.(1342-1344)aAg>aGg	p.K448R	EFTUD2_ENST00000402521.3_Missense_Mutation_p.K413R|EFTUD2_ENST00000591382.1_Missense_Mutation_p.K448R|EFTUD2_ENST00000592576.1_Missense_Mutation_p.K438R	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	448					gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				GTGCTCAATCTTGGGCTTGGC	0.557																																					Ovarian(10;65 485 10258 29980 30707)	ENST00000426333.2																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32						c.(1342-1344)aAg>aGg		elongation factor Tu GTP binding domain containing 2							133.0	104.0	113.0					17																	42941093		2203	4300	6503	SO:0001583	missense	9343					Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding	g.chr17:42941093T>C	D21163	CCDS11489.1, CCDS45707.1, CCDS59295.1	17q21.31	2014-08-12			ENSG00000108883	ENSG00000108883			30858	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 116 kD"""	603892				9233818	Standard	NM_004247		Approved	U5-116KD, Snrp116, Snu114, SNRNP116	uc002ihn.2	Q15029	OTTHUMG00000179865	ENST00000426333.2:c.1343A>G	17.37:g.42941093T>C	ENSP00000392094:p.Lys448Arg					EFTUD2_ENST00000592576.1_Missense_Mutation_p.K438R|EFTUD2_ENST00000591382.1_Missense_Mutation_p.K448R|EFTUD2_ENST00000402521.3_Missense_Mutation_p.K413R	p.K448R	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN			15	1640	-		Prostate(33;0.109)	448					B4DK30|B4DMC0|D3DX58|K7EJ81|Q9BUR0	Missense_Mutation	SNP	ENST00000426333.2	37	c.1343A>G	CCDS11489.1	.	.	.	.	.	.	.	.	.	.	T	19.77	3.890050	0.72524	.	.	ENSG00000108883	ENST00000426333;ENST00000262414;ENST00000402521	T;T	0.79141	-1.24;-1.24	5.92	5.92	0.95590	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.000000	0.85682	D	0.000000	T	0.65471	0.2694	N	0.17248	0.465	0.80722	D	1	B;B	0.31859	0.343;0.343	B;B	0.37239	0.244;0.244	T	0.62685	-0.6802	10	0.07482	T	0.82	-7.8561	16.3634	0.83296	0.0:0.0:0.0:1.0	.	438;448	B4DMC0;Q15029	.;U5S1_HUMAN	R	448;438;413	ENSP00000392094:K448R;ENSP00000385873:K413R	ENSP00000262414:K438R	K	-	2	0	EFTUD2	40296619	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	7.698000	0.84413	2.270000	0.75569	0.459000	0.35465	AAG		0.557	EFTUD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448672.1	NM_004247		7	59	0	0	0	1	0	7	59				
SYDE2	84144	broad.mit.edu	37	1	85648608	85648608	+	Missense_Mutation	SNP	C	C	T			TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr1:85648608C>T	ENST00000341460.5	-	3	1766	c.1717G>A	c.(1717-1719)Gat>Aat	p.D573N		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	573					activation of Rho GTPase activity (GO:0032862)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		GGCAGAATATCAGTATGATGA	0.418																																						ENST00000341460.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20						c.(1717-1719)Gat>Aat		synapse defective 1, Rho GTPase, homolog 2 (C. elegans)							160.0	155.0	157.0					1																	85648608		1862	4100	5962	SO:0001583	missense	84144				activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity	g.chr1:85648608C>T	AL834286	CCDS44169.1	1p22.3	2008-02-05		2005-08-09	ENSG00000097096	ENSG00000097096			25841	protein-coding gene	gene with protein product							Standard	NM_032184		Approved	FLJ13815	uc009wcm.3	Q5VT97	OTTHUMG00000009956	ENST00000341460.5:c.1717G>A	1.37:g.85648608C>T	ENSP00000340594:p.Asp573Asn						p.D573N	NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN		all cancers(265;0.0126)|Epithelial(280;0.0336)	3	1766	-			573					Q5VT96|Q8NDB8|Q9H8A6	Missense_Mutation	SNP	ENST00000341460.5	37	c.1717G>A	CCDS44169.1	.	.	.	.	.	.	.	.	.	.	C	11.29	1.596040	0.28445	.	.	ENSG00000097096	ENST00000341460	T	0.06687	3.27	5.41	4.49	0.54785	.	0.445168	0.23165	N	0.051186	T	0.01523	0.0049	N	0.08118	0	0.23624	N	0.997266	B;B	0.30236	0.18;0.274	B;B	0.28709	0.031;0.093	T	0.45011	-0.9290	10	0.14252	T	0.57	.	14.4003	0.67041	0.0:0.9277:0.0:0.0723	.	573;573	Q5VT97;Q5VT97-2	SYDE2_HUMAN;.	N	573	ENSP00000340594:D573N	ENSP00000340594:D573N	D	-	1	0	SYDE2	85421196	0.001000	0.12720	0.479000	0.27329	0.495000	0.33615	0.272000	0.18644	2.559000	0.86315	0.650000	0.86243	GAT		0.418	SYDE2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127989.2			38	74	0	0	0	1	0	38	74				
OR52J3	119679	broad.mit.edu	37	11	5068392	5068392	+	Missense_Mutation	SNP	G	G	C			TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr11:5068392G>C	ENST00000380370.1	+	1	637	c.637G>C	c.(637-639)Gtg>Ctg	p.V213L		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	213						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCTGAACCTGGTGCTCATTGG	0.458																																						ENST00000380370.1																			0				NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36						c.(637-639)Gtg>Ctg		olfactory receptor, family 52, subfamily J, member 3							332.0	299.0	310.0					11																	5068392		2201	4298	6499	SO:0001583	missense	119679				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5068392G>C	AB065530	CCDS31370.1	11p15.4	2012-08-09			ENSG00000205495	ENSG00000205495		"""GPCR / Class A : Olfactory receptors"""	14799	protein-coding gene	gene with protein product							Standard	NM_001001916		Approved		uc010qyv.2	Q8NH60	OTTHUMG00000066600	ENST00000380370.1:c.637G>C	11.37:g.5068392G>C	ENSP00000369728:p.Val213Leu						p.V213L	NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	637	+		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)	213					Q6IFE4	Missense_Mutation	SNP	ENST00000380370.1	37	c.637G>C	CCDS31370.1	.	.	.	.	.	.	.	.	.	.	G	0.790	-0.759300	0.03019	.	.	ENSG00000205495	ENST00000380370	T	0.35048	1.33	4.19	1.98	0.26296	GPCR, rhodopsin-like superfamily (1);	0.369709	0.18963	N	0.126352	T	0.19406	0.0466	N	0.20845	0.615	0.09310	N	1	B	0.10296	0.003	B	0.20577	0.03	T	0.24297	-1.0164	10	0.12766	T	0.61	.	7.5485	0.27781	0.31:0.0:0.69:0.0	.	213	Q8NH60	O52J3_HUMAN	L	213	ENSP00000369728:V213L	ENSP00000369728:V213L	V	+	1	0	OR52J3	5024968	0.000000	0.05858	0.002000	0.10522	0.018000	0.09664	-2.536000	0.00940	0.801000	0.34066	0.655000	0.94253	GTG		0.458	OR52J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142807.1	NM_001001916		4	114	0	0	0	1	0	4	114				
GIMAP5	55340	broad.mit.edu	37	7	150439449	150439449	+	Silent	SNP	C	C	T	rs142964864		TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr7:150439449C>T	ENST00000358647.3	+	3	589	c.222C>T	c.(220-222)aaC>aaT	p.N74N	GIMAP5_ENST00000479556.1_3'UTR	NM_018384.4	NP_060854.2	Q96F15	GIMA5_HUMAN	GTPase, IMAP family member 5	74	AIG1-type G.				myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of T cell activation (GO:0050868)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0032831)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of membrane potential (GO:0045838)|positive regulation of natural killer cell cytokine production (GO:0002729)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|regulation of mitochondrial membrane permeability (GO:0046902)|T cell differentiation (GO:0030217)|T cell homeostasis (GO:0043029)|temperature homeostasis (GO:0001659)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GAACATGGAACGGGAGGAAAG	0.572													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19167	0.0		0.0	False		,,,				2504	0.0					ENST00000358647.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19						c.(220-222)aaC>aaT		GTPase, IMAP family member 5							117.0	97.0	104.0					7																	150439449		2203	4300	6503	SO:0001819	synonymous_variant	55340							g.chr7:150439449C>T	AK002158	CCDS5907.1	7q36.1	2014-04-04	2004-10-29	2004-10-30	ENSG00000196329	ENSG00000196329		"""GTPases, IMAP"""	18005	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 5"""	608086	"""immune associated nucleotide 4 like 1 (mouse)"""	IAN4L1			Standard	NM_018384		Approved	HIMAP3, IAN5		Q96F15	OTTHUMG00000157542	ENST00000358647.3:c.222C>T	7.37:g.150439449C>T						GIMAP5_ENST00000479556.1_3'UTR	p.N74N	NM_018384.4	NP_060854.2			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	589	+								D3DWZ5|Q6IA75|Q96NE4|Q9NUK9	Silent	SNP	ENST00000358647.3	37	c.222C>T	CCDS5907.1																																																																																				0.572	GIMAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349108.2	NM_018384		5	48	0	0	0	1	0	5	48				
IKZF3	22806	broad.mit.edu	37	17	37947800	37947800	+	Missense_Mutation	SNP	G	G	C			TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr17:37947800G>C	ENST00000346872.3	-	5	522	c.461C>G	c.(460-462)tCt>tGt	p.S154C	IKZF3_ENST00000377952.2_Intron|IKZF3_ENST00000439167.2_Missense_Mutation_p.S120C|IKZF3_ENST00000439016.2_Intron|IKZF3_ENST00000394189.2_Intron|IKZF3_ENST00000377944.3_Intron|IKZF3_ENST00000346243.3_Missense_Mutation_p.S154C|IKZF3_ENST00000467757.1_Intron|IKZF3_ENST00000351680.3_Missense_Mutation_p.S154C|IKZF3_ENST00000377945.3_Intron|IKZF3_ENST00000350532.3_Missense_Mutation_p.S154C|IKZF3_ENST00000377958.2_Missense_Mutation_p.S67C|IKZF3_ENST00000535189.1_Missense_Mutation_p.S120C	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	154					B cell activation (GO:0042113)|mesoderm development (GO:0007498)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of B cell proliferation (GO:0030888)|regulation of lymphocyte differentiation (GO:0045619)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CTGAGTAAAAGATGCCCCACA	0.433																																						ENST00000346872.3																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(460-462)tCt>tGt		IKAROS family zinc finger 3 (Aiolos)							142.0	135.0	137.0					17																	37947800		2203	4300	6503	SO:0001583	missense	22806				B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:37947800G>C	AF129512	CCDS11346.1, CCDS11347.1, CCDS11348.1, CCDS11349.1, CCDS11350.1, CCDS11351.1, CCDS58539.1, CCDS58540.1, CCDS58541.1, CCDS58542.1, CCDS58543.1, CCDS58544.1, CCDS58545.1, CCDS74055.1	17q11.2	2013-01-08	2006-08-25	2006-08-25	ENSG00000161405	ENSG00000161405		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13178	protein-coding gene	gene with protein product		606221	"""zinc finger protein, subfamily 1A, 3 (Aiolos)"""	ZNFN1A3		9155026, 10552935	Standard	NM_012481		Approved	Aiolos	uc002hsu.4	Q9UKT9	OTTHUMG00000133250	ENST00000346872.3:c.461C>G	17.37:g.37947800G>C	ENSP00000344544:p.Ser154Cys					IKZF3_ENST00000439167.2_Missense_Mutation_p.S120C|IKZF3_ENST00000439016.2_Intron|IKZF3_ENST00000394189.2_Intron|IKZF3_ENST00000377945.3_Intron|IKZF3_ENST00000377958.2_Missense_Mutation_p.S67C|IKZF3_ENST00000351680.3_Missense_Mutation_p.S154C|IKZF3_ENST00000377952.2_Intron|IKZF3_ENST00000350532.3_Missense_Mutation_p.S154C|IKZF3_ENST00000346243.3_Missense_Mutation_p.S154C|IKZF3_ENST00000535189.1_Missense_Mutation_p.S120C|IKZF3_ENST00000467757.1_Intron|IKZF3_ENST00000377944.3_Intron	p.S154C	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		5	522	-	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		154					B4DVV5|Q69BL6|Q69BL7|Q69BL8|Q69BL9|Q69BM0|Q69BM1|Q69BM2|Q69BM3|Q69BM5|Q8N574|Q8WWQ9|Q8WWR0|Q8WWR1|Q8WWR2|Q8WWR3	Missense_Mutation	SNP	ENST00000346872.3	37	c.461C>G	CCDS11346.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.7|28.7	4.942291|4.942291	0.92526|0.92526	.|.	.|.	ENSG00000161405|ENSG00000161405	ENST00000439167;ENST00000439016|ENST00000488188;ENST00000377958;ENST00000535189;ENST00000351680;ENST00000346243;ENST00000350532	.|T;T;T;T;T	.|0.44881	.|0.91;2.12;2.12;0.91;2.12	5.94|5.94	5.94|5.94	0.96194|0.96194	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|0.000000	.|0.56097	.|D	.|0.000029	T|T	0.61702|0.61702	0.2368|0.2368	L|L	0.45698|0.45698	1.435|1.435	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D;D;D	.|0.97110	.|0.999;1.0;0.999;0.999;0.999;0.997;1.0	T|T	0.60485|0.60485	-0.7254|-0.7254	5|10	.|0.72032	.|D	.|0.01	-14.5825|-14.5825	20.3736|20.3736	0.98901|0.98901	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|67;120;154;154;154;120;154	.|Q9UKT9-9;Q9UKT9-7;Q9UKT9-6;Q9UKT9-4;Q9UKT9-3;Q9UKT9-8;Q9UKT9	.|.;.;.;.;.;.;IKZF3_HUMAN	V|C	108|154;67;120;154;154;154	.|ENSP00000367194:S67C;ENSP00000438972:S120C;ENSP00000345622:S154C;ENSP00000341977:S154C;ENSP00000344471:S154C	.|ENSP00000341977:S154C	L|S	-|-	1|2	0|0	IKZF3|IKZF3	35201326|35201326	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.869000|9.869000	0.99810|0.99810	2.820000|2.820000	0.97059|0.97059	0.650000|0.650000	0.86243|0.86243	CTT|TCT		0.433	IKZF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257004.2	NM_012481		4	106	0	0	0	1	0	4	106				
CDC42EP3	10602	broad.mit.edu	37	2	37873475	37873475	+	Missense_Mutation	SNP	G	G	A	rs373325096		TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr2:37873475G>A	ENST00000295324.3	-	2	1256	c.256C>T	c.(256-258)Cgg>Tgg	p.R86W	AC006369.2_ENST00000419425.1_RNA	NM_001270436.1|NM_001270437.1|NM_001270438.1|NM_006449.4	NP_001257365.1|NP_001257366.1|NP_001257367.1|NP_006440.2	Q9UKI2	BORG2_HUMAN	CDC42 effector protein (Rho GTPase binding) 3	86					regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|membrane (GO:0016020)	cytoskeletal regulatory protein binding (GO:0005519)			endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	11		all_hematologic(82;0.172)				CTGTTGGCCCGGAAGAACTCA	0.527																																						ENST00000295324.3																			0				endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	11						c.(256-258)Cgg>Tgg		CDC42 effector protein (Rho GTPase binding) 3							104.0	108.0	106.0					2																	37873475		2203	4300	6503	SO:0001583	missense	10602				regulation of cell shape|signal transduction	actin cytoskeleton|cytoplasm|endomembrane system|membrane	cytoskeletal regulatory protein binding	g.chr2:37873475G>A	AF094521	CCDS1791.1	2p21	2008-05-21			ENSG00000163171	ENSG00000163171			16943	protein-coding gene	gene with protein product		606133				9535835, 11035016	Standard	NM_001270436		Approved	CEP3, UB1, BORG2	uc031rnz.1	Q9UKI2	OTTHUMG00000100971	ENST00000295324.3:c.256C>T	2.37:g.37873475G>A	ENSP00000295324:p.Arg86Trp					AC006369.2_ENST00000419425.1_RNA	p.R86W	NM_001270436.1|NM_001270437.1|NM_001270438.1|NM_006449.3	NP_001257365.1|NP_001257366.1|NP_001257367.1|NP_006440.2	Q9UKI2	BORG2_HUMAN			2	1256	-		all_hematologic(82;0.172)	86					B2R8S0|O95353|Q9UQJ0	Missense_Mutation	SNP	ENST00000295324.3	37	c.256C>T	CCDS1791.1	.	.	.	.	.	.	.	.	.	.	G	18.12	3.552303	0.65311	.	.	ENSG00000163171	ENST00000295324;ENST00000457889	T	0.36157	1.27	5.91	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.56717	0.2004	M	0.71581	2.175	0.51482	D	0.999929	D	0.89917	1.0	D	0.91635	0.999	T	0.58526	-0.7621	10	0.87932	D	0	.	10.8898	0.46990	0.0:0.0:0.6973:0.3027	.	86	Q9UKI2	BORG2_HUMAN	W	86	ENSP00000295324:R86W	ENSP00000295324:R86W	R	-	1	2	CDC42EP3	37726979	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.939000	0.48995	2.793000	0.96121	0.655000	0.94253	CGG		0.527	CDC42EP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218581.3	NM_006449		3	69	0	0	0	1	0	3	69				
IGFN1	91156	broad.mit.edu	37	1	201185718	201185718	+	Silent	SNP	C	C	T			TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr1:201185718C>T	ENST00000335211.4	+	16	9562	c.9432C>T	c.(9430-9432)ggC>ggT	p.G3144G	IGFN1_ENST00000295591.8_Silent_p.G304G	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	687						nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GGCAGGCTGGCAGGAGCACTT	0.657																																						ENST00000335211.4																			0				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(9430-9432)ggC>ggT		immunoglobulin-like and fibronectin type III domain containing 1							37.0	32.0	34.0					1																	201185718		2203	4300	6503	SO:0001819	synonymous_variant	91156							g.chr1:201185718C>T	AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.9432C>T	1.37:g.201185718C>T						IGFN1_ENST00000295591.8_Silent_p.G304G	p.G3144G	NM_001164586.1	NP_001158058.1					16	9562	+								F8WAI1|Q9NT72	Silent	SNP	ENST00000335211.4	37	c.9432C>T	CCDS53455.1	.	.	.	.	.	.	.	.	.	.	C	9.184	1.024320	0.19433	.	.	ENSG00000163395	ENST00000412892	.	.	.	4.06	-0.584	0.11702	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.4987	0.04628	0.1535:0.5104:0.1414:0.1947	.	.	.	.	X	562	.	.	Q	+	1	0	IGFN1	199452341	0.958000	0.32768	0.981000	0.43875	0.133000	0.20885	0.389000	0.20751	0.018000	0.15052	0.561000	0.74099	CAG		0.657	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178275		5	19	0	0	0	1	0	5	19				
RAPGEF6	51735	broad.mit.edu	37	5	130766835	130766835	+	Silent	SNP	G	G	T			TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr5:130766835G>T	ENST00000509018.1	-	26	4387	c.4182C>A	c.(4180-4182)acC>acA	p.T1394T	CTC-432M15.3_ENST00000514667.1_Silent_p.T1444T|RAPGEF6_ENST00000296859.6_Silent_p.T1402T|RAPGEF6_ENST00000307984.5_Silent_p.T1407T|RAPGEF6_ENST00000507093.1_Silent_p.T1402T	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	1394	Ser-rich.				positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		CATCCAAATGGGTATGTCTGT	0.468																																					Melanoma(168;435 1955 13113 13877 23213)	ENST00000509018.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31						c.(4180-4182)acC>acA		Rap guanine nucleotide exchange factor (GEF) 6							127.0	129.0	129.0					5																	130766835		2203	4300	6503	SO:0001819	synonymous_variant	51735				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding	g.chr5:130766835G>T	AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 2"""	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.4182C>A	5.37:g.130766835G>T						RAPGEF6_ENST00000307984.5_Silent_p.T1407T|RAPGEF6_ENST00000296859.6_Silent_p.T1402T|RAPGEF6_ENST00000507093.1_Silent_p.T1402T|FNIP1_ENST00000514667.1_Silent_p.T1444T	p.T1394T	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)	26	4387	-			1394			Ser-rich.		A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Silent	SNP	ENST00000509018.1	37	c.4182C>A	CCDS34225.1																																																																																				0.468	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	NM_016340		7	63	1	0	8.12818e-05	1	8.7632e-05	7	63				
TOB2	10766	broad.mit.edu	37	22	41832694	41832694	+	Missense_Mutation	SNP	A	A	C			TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr22:41832694A>C	ENST00000327492.3	-	2	1362	c.656T>G	c.(655-657)aTg>aGg	p.M219R		NM_016272.3	NP_057356.1	Q14106	TOB2_HUMAN	transducer of ERBB2, 2	219					female gamete generation (GO:0007292)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoclast differentiation (GO:0045671)|positive regulation of ossification (GO:0045778)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						TGAGCGGGCCATGCGAGGCTG	0.627																																						ENST00000327492.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(655-657)aTg>aGg		transducer of ERBB2, 2							28.0	23.0	25.0					22																	41832694		2203	4300	6503	SO:0001583	missense	10766				female gamete generation|negative regulation of cell proliferation	cytoplasm|nucleus		g.chr22:41832694A>C	D64109	CCDS14015.1	22q13.2	2010-02-26			ENSG00000183864	ENSG00000183864			11980	protein-coding gene	gene with protein product		607396		TROB2		10602502, 10591208	Standard	XM_005261315		Approved	TOBL, TOB4, bK223H9	uc003azz.1	Q14106	OTTHUMG00000150970	ENST00000327492.3:c.656T>G	22.37:g.41832694A>C	ENSP00000331305:p.Met219Arg						p.M219R	NM_016272.3	NP_057356.1	Q14106	TOB2_HUMAN			2	1362	-			219					Q6FHR7|Q6PIT9|Q9BY97|Q9UBI0	Missense_Mutation	SNP	ENST00000327492.3	37	c.656T>G	CCDS14015.1	.	.	.	.	.	.	.	.	.	.	A	10.19	1.282681	0.23392	.	.	ENSG00000183864	ENST00000327492	T	0.42131	0.98	6.08	5.04	0.67666	.	1.146790	0.06372	N	0.713703	T	0.43590	0.1254	L	0.50333	1.59	0.40608	D	0.981649	B	0.21381	0.055	B	0.17722	0.019	T	0.09509	-1.0671	10	0.59425	D	0.04	-16.7425	12.0928	0.53737	0.9332:0.0:0.0668:0.0	.	219	Q14106	TOB2_HUMAN	R	219	ENSP00000331305:M219R	ENSP00000331305:M219R	M	-	2	0	TOB2	40162640	1.000000	0.71417	0.936000	0.37596	0.526000	0.34562	4.917000	0.63369	1.120000	0.41904	0.533000	0.62120	ATG		0.627	TOB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320699.1	NM_016272		3	13	0	0	0	1	0	3	13				
ZMYM5	9205	broad.mit.edu	37	13	20398825	20398825	+	Missense_Mutation	SNP	T	T	C			TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr13:20398825T>C	ENST00000337963.4	-	8	2066	c.1802A>G	c.(1801-1803)aAt>aGt	p.N601S		NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	601						nucleus (GO:0005634)	zinc ion binding (GO:0008270)			kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		tttcagttgattttttccttc	0.333																																						ENST00000337963.4																			0				kidney(1)|large_intestine(5)|lung(9)	15						c.(1801-1803)aAt>aGt		zinc finger, MYM-type 5							40.0	32.0	34.0					13																	20398825		1567	3581	5148	SO:0001583	missense	9205					nucleus	zinc ion binding	g.chr13:20398825T>C	AF161535	CCDS31942.1, CCDS31943.1	13q12	2013-01-08	2005-09-12	2005-09-12	ENSG00000132950	ENSG00000132950		"""Zinc fingers, MYM type"""	13029	protein-coding gene	gene with protein product			"""zinc finger protein 237"""	ZNF237			Standard	NM_001039650		Approved	ZNF198L1, MYM	uc010tcn.1	Q9UJ78	OTTHUMG00000016504	ENST00000337963.4:c.1802A>G	13.37:g.20398825T>C	ENSP00000337034:p.Asn601Ser						p.N601S	NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)	8	2066	-		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	601					B2R6V1|Q5T6E1|Q5T6E2|Q5T6E4|Q96IY6|Q9NZY5|Q9UBW0|Q9UJ77	Missense_Mutation	SNP	ENST00000337963.4	37	c.1802A>G		.	.	.	.	.	.	.	.	.	.	T	11.21	1.572529	0.28092	.	.	ENSG00000132950	ENST00000337963;ENST00000502168	T;T	0.17054	2.3;2.3	2.89	2.89	0.33648	Zinc finger, TTF-type (1);	0.311519	0.30732	N	0.008993	T	0.21550	0.0519	L	0.36672	1.1	0.26821	N	0.968793	D	0.63880	0.993	D	0.70227	0.968	T	0.07139	-1.0788	10	0.06891	T	0.86	.	7.598	0.28058	0.0:0.0:0.0:1.0	.	601	Q9UJ78	ZMYM5_HUMAN	S	601;591	ENSP00000337034:N601S;ENSP00000445779:N591S	ENSP00000337034:N601S	N	-	2	0	ZMYM5	19296825	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.838000	0.48199	1.538000	0.49270	0.455000	0.32223	AAT		0.333	ZMYM5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014242		3	13	0	0	0	1	0	3	13				
C3	718	broad.mit.edu	37	19	6697481	6697481	+	Silent	SNP	G	G	A	rs137956083	byFrequency	TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr19:6697481G>A	ENST00000245907.6	-	21	2762	c.2670C>T	c.(2668-2670)ccC>ccT	p.P890P		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	890					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	ACGAGGACTTGGGGGGGATGG	0.572																																						ENST00000245907.6																			0				breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72						c.(2668-2670)ccC>ccT		complement component 3							122.0	96.0	105.0					19																	6697481		2203	4300	6503	SO:0001819	synonymous_variant	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6697481G>A	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.2670C>T	19.37:g.6697481G>A							p.P890P	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	21	2762	-			890					A7E236	Silent	SNP	ENST00000245907.6	37	c.2670C>T	CCDS32883.1																																																																																				0.572	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		7	36	0	0	0	1	0	7	36				
SMOC1	64093	broad.mit.edu	37	14	70420250	70420250	+	Splice_Site	SNP	G	G	A			TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr14:70420250G>A	ENST00000381280.4	+	3	631		c.e3+1		SMOC1_ENST00000361956.3_Splice_Site	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1						cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|eye development (GO:0001654)|limb development (GO:0060173)|positive regulation of cell-substrate adhesion (GO:0010811)|regulation of osteoblast differentiation (GO:0045667)|signal transduction (GO:0007165)	basement membrane (GO:0005604)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		CTTTACCCAGGTGAGGCCTCG	0.617																																						ENST00000381280.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						c.e3+1		SPARC related modular calcium binding 1							98.0	87.0	91.0					14																	70420250		2203	4300	6503	SO:0001630	splice_region_variant	64093				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding	g.chr14:70420250G>A	AJ249900	CCDS9798.1, CCDS32110.1	14q24.1	2010-08-05			ENSG00000198732	ENSG00000198732			20318	protein-coding gene	gene with protein product		608488				12130637	Standard	NM_001034852		Approved		uc001xlt.2	Q9H4F8		ENST00000381280.4:c.378+1G>A	14.37:g.70420250G>A						SMOC1_ENST00000361956.3_Splice_Site		NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN		all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)	3	631	+								A8K1S3|B2R7P5|Q96F78	Splice_Site	SNP	ENST00000381280.4	37		CCDS9798.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.256307	0.80246	.	.	ENSG00000198732	ENST00000361956;ENST00000381280	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0713	0.93138	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SMOC1	69490003	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	9.405000	0.97313	2.484000	0.83849	0.591000	0.81541	.		0.617	SMOC1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000412467.1		Intron	22	25	0	0	0	1	0	22	25				
WDR88	126248	broad.mit.edu	37	19	33623274	33623274	+	Missense_Mutation	SNP	C	C	T			TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr19:33623274C>T	ENST00000355868.3	+	1	275	c.199C>T	c.(199-201)Cca>Tca	p.P67S	WDR88_ENST00000361680.2_Missense_Mutation_p.P67S|WDR88_ENST00000592765.1_Missense_Mutation_p.P67S	NM_173479.3	NP_775750.3	Q6ZMY6	WDR88_HUMAN	WD repeat domain 88	67										breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					GGACAGGGAACCACCACCGCA	0.652																																						ENST00000361680.2																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25						c.(199-201)Cca>Tca		WD repeat domain 88							78.0	77.0	78.0					19																	33623274		2203	4300	6503	SO:0001583	missense	126248							g.chr19:33623274C>T	BC031227	CCDS12429.1	19q13.11	2013-01-09	2007-04-04	2007-04-04		ENSG00000166359		"""WD repeat domain containing"""	26999	protein-coding gene	gene with protein product			"""PQQ repeat and WD repeat domain containing"""	PQWD		12477932	Standard	NM_173479		Approved		uc002nui.3	Q6ZMY6		ENST00000355868.3:c.199C>T	19.37:g.33623274C>T	ENSP00000348129:p.Pro67Ser					WDR88_ENST00000592765.1_Missense_Mutation_p.P67S|WDR88_ENST00000355868.3_Missense_Mutation_p.P67S	p.P67S			Q6ZMY6	WDR88_HUMAN			1	277	+	Esophageal squamous(110;0.137)		67					Q8NEF8	Missense_Mutation	SNP	ENST00000355868.3	37	c.199C>T	CCDS12429.1	.	.	.	.	.	.	.	.	.	.	C	0.484	-0.878475	0.02550	.	.	ENSG00000166359	ENST00000355868;ENST00000361680	T;T	0.59502	0.57;0.26	3.52	-4.0	0.04057	.	.	.	.	.	T	0.22704	0.0548	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.10847	-1.0612	9	0.25751	T	0.34	.	2.4097	0.04421	0.1584:0.4511:0.1611:0.2295	.	67	Q6ZMY6	WDR88_HUMAN	S	67	ENSP00000348129:P67S;ENSP00000355148:P67S	ENSP00000348129:P67S	P	+	1	0	WDR88	38315114	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	-3.732000	0.00380	-0.865000	0.04073	-0.676000	0.03789	CCA		0.652	WDR88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450840.1	NM_173479		9	74	0	0	0	1	0	9	74				
EIF2AK4	440275	broad.mit.edu	37	15	40259951	40259951	+	Missense_Mutation	SNP	C	C	T			TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr15:40259951C>T	ENST00000263791.5	+	9	1467	c.1424C>T	c.(1423-1425)aCg>aTg	p.T475M	EIF2AK4_ENST00000382727.2_Missense_Mutation_p.T475M|EIF2AK4_ENST00000559624.1_Missense_Mutation_p.T475M	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	475	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to starvation (GO:0009267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of translation (GO:0017148)|protein phosphorylation (GO:0006468)|regulation of translational initiation (GO:0006446)|regulation of translational initiation in response to stress (GO:0043558)	cytosolic ribosome (GO:0022626)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		CCTTATAAAACGGGGAAGAAA	0.493																																						ENST00000263791.5																			0				NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40						c.(1423-1425)aCg>aTg		eukaryotic translation initiation factor 2 alpha kinase 4							129.0	122.0	124.0					15																	40259951		1974	4163	6137	SO:0001583	missense	440275				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity	g.chr15:40259951C>T	AB037759	CCDS42016.1	15q13.3	2008-08-18				ENSG00000128829			19687	protein-coding gene	gene with protein product		609280				10504407	Standard	XM_005254392		Approved	GCN2, KIAA1338	uc001zkm.1	Q9P2K8		ENST00000263791.5:c.1424C>T	15.37:g.40259951C>T	ENSP00000263791:p.Thr475Met					EIF2AK4_ENST00000382727.2_Missense_Mutation_p.T475M|EIF2AK4_ENST00000559624.1_Missense_Mutation_p.T475M	p.T475M	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)	9	1467	+		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)	475			Protein kinase 1.		C9JEC4|Q69YL7|Q6DC97|Q96GN6|Q9H5K1|Q9NSQ3|Q9NSZ5|Q9UJ56	Missense_Mutation	SNP	ENST00000263791.5	37	c.1424C>T	CCDS42016.1	.	.	.	.	.	.	.	.	.	.	C	18.71	3.682162	0.68042	.	.	ENSG00000128829	ENST00000263791;ENST00000382727	T;T	0.73681	-0.77;-0.77	5.63	4.69	0.59074	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.206560	0.44097	D	0.000482	T	0.74397	0.3711	L	0.28400	0.85	0.31260	N	0.692958	D;D	0.61697	0.99;0.987	P;P	0.56398	0.797;0.681	T	0.75698	-0.3227	10	0.34782	T	0.22	-10.612	15.1109	0.72355	0.0:0.7317:0.2683:0.0	.	475;475	Q9P2K8;Q9P2K8-3	E2AK4_HUMAN;.	M	475	ENSP00000263791:T475M;ENSP00000372174:T475M	ENSP00000263791:T475M	T	+	2	0	EIF2AK4	38047243	0.999000	0.42202	0.906000	0.35671	0.994000	0.84299	3.948000	0.56660	1.468000	0.48064	0.650000	0.86243	ACG		0.493	EIF2AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418395.1			23	48	0	0	0	1	0	23	48				
TNKS1BP1	85456	broad.mit.edu	37	11	57076312	57076312	+	Silent	SNP	G	G	A			TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr11:57076312G>A	ENST00000532437.1	-	5	4184	c.3873C>T	c.(3871-3873)gcC>gcT	p.A1291A	TNKS1BP1_ENST00000358252.3_Silent_p.A1291A|TNKS1BP1_ENST00000530920.1_5'Flank			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1291	Acidic.|Gly-rich.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CTGCCCCTGGGGCCATGTTTC	0.587																																						ENST00000532437.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(3871-3873)gcC>gcT		tankyrase 1 binding protein 1, 182kDa							102.0	105.0	104.0					11																	57076312		2201	4296	6497	SO:0001819	synonymous_variant	85456				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	g.chr11:57076312G>A	AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.3873C>T	11.37:g.57076312G>A						TNKS1BP1_ENST00000358252.3_Silent_p.A1291A	p.A1291A			Q9C0C2	TB182_HUMAN			5	4184	-		all_epithelial(135;0.21)	1291			Acidic.|Gly-rich.		A7E2F8|Q6PJ35|Q6ZV74	Silent	SNP	ENST00000532437.1	37	c.3873C>T	CCDS7951.1																																																																																				0.587	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	NM_033396		34	69	0	0	0	1	0	34	69				
SURF6	6838	broad.mit.edu	37	9	136198945	136198945	+	Silent	SNP	G	G	A			TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr9:136198945G>A	ENST00000372022.4	-	5	1111	c.846C>T	c.(844-846)atC>atT	p.I282I	SURF6_ENST00000468290.1_5'UTR	NM_006753.4	NP_006744.2	O75683	SURF6_HUMAN	surfeit 6	282					ribosome biogenesis (GO:0042254)	granular component (GO:0001652)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	12				OV - Ovarian serous cystadenocarcinoma(145;1.16e-06)|Epithelial(140;8.34e-06)|all cancers(34;7.08e-05)		CGTCGTCACGGATCTTCACGC	0.687																																						ENST00000372022.4																			0				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	12						c.(844-846)atC>atT		surfeit 6							65.0	60.0	62.0					9																	136198945		2203	4300	6503	SO:0001819	synonymous_variant	6838					granular component	DNA binding|RNA binding	g.chr9:136198945G>A	AF186772	CCDS6962.1	9q33-q34	2010-07-06			ENSG00000148296	ENSG00000148296			11478	protein-coding gene	gene with protein product	"""surfeit locus protein 6"""	185642				9740673, 15629442	Standard	NM_006753		Approved	FLJ30322, RRP14	uc004cdb.4	O75683	OTTHUMG00000020871	ENST00000372022.4:c.846C>T	9.37:g.136198945G>A						SURF6_ENST00000468290.1_5'UTR	p.I282I	NM_006753.4	NP_006744.2	O75683	SURF6_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-06)|Epithelial(140;8.34e-06)|all cancers(34;7.08e-05)	5	1111	-			282					Q5T8U1|Q9BRK9|Q9BTZ5|Q9UK24	Silent	SNP	ENST00000372022.4	37	c.846C>T	CCDS6962.1																																																																																				0.687	SURF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054905.1	NM_006753		8	61	0	0	0	1	0	8	61				
MMP9	4318	broad.mit.edu	37	20	44641091	44641091	+	Silent	SNP	G	G	A	rs201927079		TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr20:44641091G>A	ENST00000372330.3	+	8	1219	c.1200G>A	c.(1198-1200)gcG>gcA	p.A400A	RP11-465L10.10_ENST00000535913.1_RNA	NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	400					collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|macrophage differentiation (GO:0030225)|negative regulation of cation channel activity (GO:2001258)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of receptor binding (GO:1900122)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|identical protein binding (GO:0042802)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Captopril(DB01197)|Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)	TCGTGGCGGCGCATGAGTTCG	0.652													G|||	1	0.000199681	0.0	0.0	5008	,	,		12827	0.0		0.001	False		,,,				2504	0.0					ENST00000372330.3																			0				breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46						c.(1198-1200)gcG>gcA		matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)						58.0	56.0	57.0					20																	44641091		2203	4300	6503	SO:0001819	synonymous_variant	4318				collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding	g.chr20:44641091G>A		CCDS13390.1	20q12-q13	2008-01-07	2005-08-08		ENSG00000100985	ENSG00000100985	3.4.24.35		7176	protein-coding gene	gene with protein product		120361	"""matrix metalloproteinase 9 (gelatinase B, 92kD gelatinase, 92kD type IV collagenase)"", ""matrix metalloproteinase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)"""	CLG4B		2158484	Standard	NM_004994		Approved		uc002xqz.3	P14780	OTTHUMG00000033044	ENST00000372330.3:c.1200G>A	20.37:g.44641091G>A							p.A400A	NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN			8	1219	+		Myeloproliferative disorder(115;0.0122)	400					B2R7V9|Q3LR70|Q8N725|Q9H4Z1|Q9UCJ9|Q9UCL1|Q9UDK2	Silent	SNP	ENST00000372330.3	37	c.1200G>A	CCDS13390.1																																																																																				0.652	MMP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080337.1			3	64	0	0	0	1	0	3	64				
QRFPR	84109	broad.mit.edu	37	4	122250475	122250475	+	Silent	SNP	C	C	T			TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr4:122250475C>T	ENST00000394427.2	-	6	1701	c.1290G>A	c.(1288-1290)ggG>ggA	p.G430G	QRFPR_ENST00000334383.5_3'UTR|Y_RNA_ENST00000384419.1_RNA	NM_198179.2	NP_937822.2	Q96P65	QRFPR_HUMAN	pyroglutamylated RFamide peptide receptor	430					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)			endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						ATAATTAATGCCCACTGTCTA	0.343																																						ENST00000394427.2																			0				endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						c.(1288-1290)ggG>ggA		pyroglutamylated RFamide peptide receptor							83.0	80.0	81.0					4																	122250475		2203	4300	6503	SO:0001819	synonymous_variant	84109					plasma membrane	neuropeptide Y receptor activity	g.chr4:122250475C>T	AF411117	CCDS3719.1	4q27	2012-08-10	2008-12-18	2008-12-18	ENSG00000186867	ENSG00000186867		"""GPCR / Class A : RF amide peptide receptors"""	15565	protein-coding gene	gene with protein product		606925	"""G protein-coupled receptor 103"""	GPR103		11574155	Standard	NM_198179		Approved		uc010inj.1	Q96P65	OTTHUMG00000133036	ENST00000394427.2:c.1290G>A	4.37:g.122250475C>T						QRFPR_ENST00000334383.5_3'UTR	p.G430G	NM_198179.2	NP_937822.2	Q96P65	QRFPR_HUMAN			6	1701	-			430						Silent	SNP	ENST00000394427.2	37	c.1290G>A	CCDS3719.1																																																																																				0.343	QRFPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256641.2	NM_198179		13	36	0	0	0	1	0	13	36				
ELMOD1	55531	broad.mit.edu	37	11	107535808	107535808	+	Missense_Mutation	SNP	T	T	A			TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr11:107535808T>A	ENST00000265840.7	+	12	1155	c.890T>A	c.(889-891)aTg>aAg	p.M297K	ELMOD1_ENST00000443271.2_Missense_Mutation_p.M289K|ELMOD1_ENST00000531234.1_Missense_Mutation_p.M291K	NM_018712.3	NP_061182.3	Q8N336	ELMD1_HUMAN	ELMO/CED-12 domain containing 1	297	ELMO. {ECO:0000255|PROSITE- ProRule:PRU00664}.				phagocytosis (GO:0006909)|positive regulation of GTPase activity (GO:0043547)	cytoskeleton (GO:0005856)	GTPase activator activity (GO:0005096)			endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		ATGGACATAATGGAATTTAAT	0.433																																						ENST00000265840.7																			0				endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19						c.(889-891)aTg>aAg		ELMO/CED-12 domain containing 1							135.0	140.0	138.0					11																	107535808		1916	4147	6063	SO:0001583	missense	55531				phagocytosis	cytoskeleton	GTPase activator activity	g.chr11:107535808T>A	AL359601	CCDS44723.1, CCDS44724.1	11q23.1	2012-10-15	2006-01-20		ENSG00000110675	ENSG00000110675			25334	protein-coding gene	gene with protein product		615456	"""ELMO domain containing 1"""			12477932	Standard	NM_018712		Approved	DKFZp547C176	uc010rvs.2	Q8N336	OTTHUMG00000166361	ENST00000265840.7:c.890T>A	11.37:g.107535808T>A	ENSP00000265840:p.Met297Lys					ELMOD1_ENST00000531234.1_Missense_Mutation_p.M291K|ELMOD1_ENST00000443271.2_Missense_Mutation_p.M289K	p.M297K	NM_018712.3	NP_061182.3	Q8N336	ELMD1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)	12	1155	+		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)	297			ELMO.		B4E167|G5E9S5|Q9NPW3	Missense_Mutation	SNP	ENST00000265840.7	37	c.890T>A	CCDS44723.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.628987	0.87560	.	.	ENSG00000110675	ENST00000531234;ENST00000265840;ENST00000443271	T;T;T	0.31769	1.48;1.48;1.48	6.04	6.04	0.98038	Engulfment/cell motility, ELMO (2);	0.037674	0.85682	D	0.000000	T	0.64271	0.2583	M	0.90595	3.13	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.991	T	0.72181	-0.4368	10	0.87932	D	0	.	16.5885	0.84745	0.0:0.0:0.0:1.0	.	297;289	Q8N336;G5E9S5	ELMD1_HUMAN;.	K	291;297;289	ENSP00000433232:M291K;ENSP00000265840:M297K;ENSP00000412257:M289K	ENSP00000265840:M297K	M	+	2	0	ELMOD1	107041018	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.503000	0.81632	2.317000	0.78254	0.460000	0.39030	ATG		0.433	ELMOD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389406.1	NM_018712		17	93	0	0	0	1	0	17	93				
FAM86HP	729375	broad.mit.edu	37	3	129821754	129821754	+	RNA	SNP	C	C	A			TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr3:129821754C>A	ENST00000500074.2	-	0	391									family with sequence similarity 86, member H, pseudogene																		CAATACAGCACGTCTACGGTG	0.587																																						ENST00000500074.2																			0																																																			0							g.chr3:129821754C>A			3q22.1	2011-07-01			ENSG00000253540	ENSG00000253540			42359	pseudogene	pseudogene							Standard	NR_024252		Approved		uc011ble.1		OTTHUMG00000159796		3.37:g.129821754C>A														0	391	-									RNA	SNP	ENST00000500074.2	37																																																																																						0.587	FAM86HP-002	PUTATIVE	basic	processed_transcript	pseudogene	OTTHUMT00000358348.1			3	44	1	0	0.00198382	1	0.00204304	3	44				
SLC27A1	376497	broad.mit.edu	37	19	17608156	17608156	+	Silent	SNP	G	G	A			TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr19:17608156G>A	ENST00000252595.7	+	7	1186	c.1089G>A	c.(1087-1089)ggG>ggA	p.G363G	SLC27A1_ENST00000442725.1_Silent_p.G363G|CTD-3131K8.2_ENST00000596643.1_lincRNA|SLC27A1_ENST00000598424.1_Silent_p.G184G	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	363	Sufficient for oligomerization. {ECO:0000250}.				adiponectin-activated signaling pathway (GO:0033211)|cardiolipin biosynthetic process (GO:0032049)|cellular lipid metabolic process (GO:0044255)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid transport (GO:0015909)|medium-chain fatty acid transport (GO:0001579)|negative regulation of phospholipid biosynthetic process (GO:0071072)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phosphatidylglycerol biosynthetic process (GO:0006655)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylserine biosynthetic process (GO:0006659)|positive regulation of heat generation (GO:0031652)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to cold (GO:0009409)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	fatty acid transporter activity (GO:0015245)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TGGCGGTGGGGAACGGGCTGC	0.667																																						ENST00000252595.7																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(1087-1089)ggG>ggA		solute carrier family 27 (fatty acid transporter), member 1							56.0	46.0	49.0					19																	17608156		2203	4300	6503	SO:0001819	synonymous_variant	376497				cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding	g.chr19:17608156G>A	BC059399	CCDS32953.1	19p13.11	2013-07-15			ENSG00000130304	ENSG00000130304		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10995	protein-coding gene	gene with protein product		600691				10873384	Standard	NM_198580		Approved	FATP1, FATP, MGC71751, FLJ00336, ACSVL5	uc002ngu.1	Q6PCB7	OTTHUMG00000182878	ENST00000252595.7:c.1089G>A	19.37:g.17608156G>A						SLC27A1_ENST00000442725.1_Silent_p.G363G|CTD-3131K8.2_ENST00000596643.1_lincRNA|SLC27A1_ENST00000598424.1_Silent_p.G184G	p.G363G	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN			7	1186	+			363			Sufficient for oligomerization (By similarity).		A6NIH2|B7Z662	Silent	SNP	ENST00000252595.7	37	c.1089G>A	CCDS32953.1																																																																																				0.667	SLC27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464145.1	NM_198580		15	14	0	0	0	1	0	15	14				
FAM83D	81610	broad.mit.edu	37	20	37581078	37581078	+	Missense_Mutation	SNP	A	A	G			TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr20:37581078A>G	ENST00000217429.4	+	4	1804	c.1763A>G	c.(1762-1764)aAc>aGc	p.N588S		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	558					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				TTTACTGAAAACCACCTTGGC	0.458																																						ENST00000217429.4																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28						c.(1762-1764)aAc>aGc		family with sequence similarity 83, member D							91.0	95.0	94.0					20																	37581078		1951	4148	6099	SO:0001583	missense	81610				cell division|mitosis	cytoplasm|spindle pole		g.chr20:37581078A>G	AL023803	CCDS42872.1	20q11.23	2014-03-13	2006-03-23	2006-03-23	ENSG00000101447	ENSG00000101447			16122	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 129"""	C20orf129		23205133	Standard	NM_030919		Approved	dJ616B8.3	uc002xjg.3	Q9H4H8	OTTHUMG00000032462	ENST00000217429.4:c.1763A>G	20.37:g.37581078A>G	ENSP00000217429:p.Asn588Ser						p.N588S	NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN			4	1804	+		Myeloproliferative disorder(115;0.00878)	558					B4E1I7|Q5THR2|Q68EN1|Q6P457|Q7Z6H0|Q96DF5|Q96N89|Q9BVM8	Missense_Mutation	SNP	ENST00000217429.4	37	c.1763A>G	CCDS42872.1	.	.	.	.	.	.	.	.	.	.	A	1.377	-0.584441	0.03827	.	.	ENSG00000101447	ENST00000217429;ENST00000424027	T	0.10763	2.84	6.17	2.5	0.30297	.	0.740004	0.13942	N	0.352148	T	0.09291	0.0229	M	0.63428	1.95	0.20821	N	0.999848	B	0.13145	0.007	B	0.11329	0.006	T	0.46345	-0.9198	10	0.02654	T	1	-2.2286	6.3975	0.21620	0.4449:0.443:0.1121:0.0	.	558	Q9H4H8	FA83D_HUMAN	S	588;542	ENSP00000217429:N588S	ENSP00000217429:N588S	N	+	2	0	FAM83D	37014492	0.744000	0.28250	0.905000	0.35620	0.020000	0.10135	0.394000	0.20834	1.119000	0.41883	0.533000	0.62120	AAC		0.458	FAM83D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079211.1			26	35	0	0	0	1	0	26	35				
HARS	3035	broad.mit.edu	37	5	140054664	140054664	+	Missense_Mutation	SNP	G	G	C			TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr5:140054664G>C	ENST00000504156.1	-	11	1968	c.1249C>G	c.(1249-1251)Cag>Gag	p.Q417E	HARS_ENST00000307633.3_Missense_Mutation_p.Q357E|HARS_ENST00000438307.2_Missense_Mutation_p.Q377E|HARS_ENST00000457527.2_Missense_Mutation_p.Q397E|HARS_ENST00000448240.1_Missense_Mutation_p.Q222E|HARS_ENST00000431330.2_Missense_Mutation_p.Q303E|HARS_ENST00000504366.1_Missense_Mutation_p.Q348E|DND1_ENST00000542735.1_5'Flank|HARS_ENST00000415192.2_Missense_Mutation_p.Q343E	NM_002109.4	NP_002100.2	P12081	SYHC_HUMAN	histidyl-tRNA synthetase	417					gene expression (GO:0010467)|histidyl-tRNA aminoacylation (GO:0006427)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|histidine-tRNA ligase activity (GO:0004821)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)	AGCTTCTTCTGTGCAGATGCC	0.537																																						ENST00000504366.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	19						c.(1042-1044)Cag>Gag		histidyl-tRNA synthetase	L-Histidine(DB00117)						140.0	129.0	133.0					5																	140054664		2203	4300	6503	SO:0001583	missense	3035				histidyl-tRNA aminoacylation	cytosol	ATP binding|histidine-tRNA ligase activity	g.chr5:140054664G>C	AK000498	CCDS4237.1, CCDS58976.1, CCDS58977.1, CCDS58978.1, CCDS75323.1, CCDS75324.1	5q31.3	2012-10-02			ENSG00000170445	ENSG00000170445	6.1.1.21	"""Aminoacyl tRNA synthetases / Class II"""	4816	protein-coding gene	gene with protein product	"""histidine tRNA ligase 1, cytoplasmic"""	142810					Standard	XM_005268428		Approved		uc003lgv.4	P12081	OTTHUMG00000129502	ENST00000504156.1:c.1249C>G	5.37:g.140054664G>C	ENSP00000425634:p.Gln417Glu					HARS_ENST00000431330.2_Missense_Mutation_p.Q303E|HARS_ENST00000457527.2_Missense_Mutation_p.Q397E|HARS_ENST00000438307.2_Missense_Mutation_p.Q377E|HARS_ENST00000448240.1_Missense_Mutation_p.Q222E|HARS_ENST00000307633.3_Missense_Mutation_p.Q357E|HARS_ENST00000504156.1_Missense_Mutation_p.Q417E|HARS_ENST00000415192.2_Missense_Mutation_p.Q343E	p.Q348E			P12081	SYHC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		10	2861	-			417					B4DHQ1|B4DY73|D6REN6|J3KNE5	Missense_Mutation	SNP	ENST00000504156.1	37	c.1042C>G	CCDS4237.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.335057	0.81801	.	.	ENSG00000170445	ENST00000504156;ENST00000457527;ENST00000431330;ENST00000504366;ENST00000307633;ENST00000448240;ENST00000438307;ENST00000415192	D;D;D;D;D;D;D;D	0.81996	-1.56;-1.56;-1.56;-1.56;-1.56;-1.56;-1.56;-1.56	5.43	5.43	0.79202	Anticodon-binding (3);	0.000000	0.85682	D	0.000000	D	0.91307	0.7259	M	0.79693	2.465	0.80722	D	1	B;B;D;D;D;D	0.65815	0.261;0.42;0.995;0.995;0.985;0.973	B;B;D;D;P;P	0.66196	0.149;0.221;0.942;0.942;0.903;0.903	D	0.91391	0.5135	10	0.56958	D	0.05	-7.1139	19.6058	0.95582	0.0:0.0:1.0:0.0	.	303;343;357;377;397;417	B4E1C5;B4DDD8;B4DHQ1;B4DY73;D6REN6;P12081	.;.;.;.;.;SYHC_HUMAN	E	417;397;303;348;357;222;377;343	ENSP00000425634:Q417E;ENSP00000387893:Q397E;ENSP00000393244:Q303E;ENSP00000430063:Q348E;ENSP00000304668:Q357E;ENSP00000413605:Q222E;ENSP00000411511:Q377E;ENSP00000411085:Q343E	ENSP00000304668:Q357E	Q	-	1	0	HARS	140034848	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.722000	0.93159	0.655000	0.94253	CAG		0.537	HARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251673.2	NM_002109		22	27	0	0	0	1	0	22	27				
CADM1	23705	broad.mit.edu	37	11	115080343	115080343	+	Silent	SNP	G	G	T			TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr11:115080343G>T	ENST00000452722.3	-	8	1049	c.1029C>A	c.(1027-1029)acC>acA	p.T343T	CADM1_ENST00000536727.1_Intron|CADM1_ENST00000537058.1_Silent_p.T343T|CADM1_ENST00000331581.6_Silent_p.T343T|CADM1_ENST00000537140.1_Intron|CADM1_ENST00000542447.2_Intron	NM_014333.3	NP_055148.3			cell adhesion molecule 1									p.T343T(5)		cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		tggtggtggtggttgttgtgg	0.433																																						ENST00000537058.1																			5	Substitution - coding silent(5)	p.T343T(5)	kidney(3)|lung(2)	cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32						c.(1027-1029)acC>acA		cell adhesion molecule 1							45.0	50.0	49.0					11																	115080343		2201	4296	6497	SO:0001819	synonymous_variant	23705				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding	g.chr11:115080343G>T	AB017563	CCDS8373.1, CCDS53711.1, CCDS73397.1, CCDS73398.1, CCDS73399.1	11q23.2	2013-01-29	2007-02-07	2007-02-07	ENSG00000182985	ENSG00000182985		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5951	protein-coding gene	gene with protein product	"""nectin-like 2"""	605686	"""tumor suppressor in lung cancer 1"", ""immunoglobulin superfamily, member 4"""	TSLC1, IGSF4		10610705	Standard	NM_014333		Approved	NECL2, ST17, BL2, SYNCAM, IGSF4A, Necl-2, SYNCAM1, RA175	uc001ppi.4	Q9BY67	OTTHUMG00000168202	ENST00000452722.3:c.1029C>A	11.37:g.115080343G>T						CADM1_ENST00000537140.1_Intron|CADM1_ENST00000542447.2_Intron|CADM1_ENST00000452722.2_Silent_p.T343T|CADM1_ENST00000536727.1_Intron|CADM1_ENST00000331581.6_Silent_p.T343T	p.T343T			Q9BY67	CADM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)	8	1049	-	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)	343	PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657).					Silent	SNP	ENST00000452722.3	37	c.1029C>A	CCDS8373.1																																																																																				0.433	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398753.2	NM_014333		4	56	1	0	0.00909568	1	0.00922944	4	56				
BMP15	9210	broad.mit.edu	37	X	50653913	50653913	+	Missense_Mutation	SNP	C	C	G			TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chrX:50653913C>G	ENST00000252677.3	+	1	130	c.130C>G	c.(130-132)Ctg>Gtg	p.L44V		NM_005448.2	NP_005439.2	O95972	BMP15_HUMAN	bone morphogenetic protein 15	44					female gamete generation (GO:0007292)|granulosa cell development (GO:0060016)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					TACTTTGCCCCTGATTGAGGA	0.557																																						ENST00000252677.3																			0				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26						c.(130-132)Ctg>Gtg		bone morphogenetic protein 15							36.0	32.0	33.0					X																	50653913		2203	4298	6501	SO:0001583	missense	9210				female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity	g.chrX:50653913C>G	AF082349	CCDS14334.1	Xp11.2	2013-02-06			ENSG00000130385	ENSG00000130385		"""Bone morphogenetic proteins"""	1068	protein-coding gene	gene with protein product		300247				9849956	Standard	NM_005448		Approved	GDF9B	uc011mnw.2	O95972	OTTHUMG00000021525	ENST00000252677.3:c.130C>G	X.37:g.50653913C>G	ENSP00000252677:p.Leu44Val						p.L44V	NM_005448.2	NP_005439.2	O95972	BMP15_HUMAN			1	130	+	Ovarian(276;0.236)		44					Q17RM6|Q5JST1|Q9UMS1	Missense_Mutation	SNP	ENST00000252677.3	37	c.130C>G	CCDS14334.1	.	.	.	.	.	.	.	.	.	.	c	7.892	0.732426	0.15507	.	.	ENSG00000130385	ENST00000252677	D	0.83419	-1.72	5.86	2.11	0.27256	.	0.423165	0.23149	N	0.051370	D	0.82811	0.5118	M	0.71581	2.175	0.09310	N	1	D	0.56968	0.978	P	0.50825	0.651	T	0.72743	-0.4201	10	0.40728	T	0.16	.	6.4818	0.22067	0.0:0.5879:0.0:0.4121	.	44	O95972	BMP15_HUMAN	V	44	ENSP00000252677:L44V	ENSP00000252677:L44V	L	+	1	2	BMP15	50670653	0.179000	0.23135	0.364000	0.25888	0.334000	0.28698	0.090000	0.15025	0.227000	0.20999	0.544000	0.68410	CTG		0.557	BMP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056572.1	NM_005448		6	0	0	0	0	1	0	6	0				
STAMBPL1	57559	broad.mit.edu	37	10	90672939	90672939	+	Missense_Mutation	SNP	C	C	G			TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr10:90672939C>G	ENST00000371926.3	+	6	1460	c.502C>G	c.(502-504)Cgc>Ggc	p.R168G	STAMBPL1_ENST00000371924.1_Missense_Mutation_p.R168G|STAMBPL1_ENST00000371922.1_Missense_Mutation_p.R2G|STAMBPL1_ENST00000371927.3_Missense_Mutation_p.R168G	NM_020799.3	NP_065850.1	Q96FJ0	STALP_HUMAN	STAM binding protein-like 1	168						membrane (GO:0016020)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1)	11		Colorectal(252;0.0381)		Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05)		TGCTCAGATGCGCCAGCAGCA	0.443																																						ENST00000371927.3																			0				breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1)	11						c.(502-504)Cgc>Ggc		STAM binding protein-like 1							75.0	78.0	77.0					10																	90672939		2203	4300	6503	SO:0001583	missense	57559						metal ion binding|metallopeptidase activity|protein binding	g.chr10:90672939C>G	AB037794	CCDS7391.1	10q23.32	2006-11-08			ENSG00000138134	ENSG00000138134			24105	protein-coding gene	gene with protein product	"""associated molecule with the SH3 domain of STAM (AMSH) like protein"", ""associated molecule with the SH3 domain of STAM (AMSH) - Family Protein"""	612352				12810066, 12943674	Standard	NM_020799		Approved	AMSH-LP, KIAA1373, AMSH-FP, FLJ31524, ALMalpha, bA399O19.2	uc001kfk.4	Q96FJ0	OTTHUMG00000018702	ENST00000371926.3:c.502C>G	10.37:g.90672939C>G	ENSP00000360994:p.Arg168Gly					STAMBPL1_ENST00000371922.1_Missense_Mutation_p.R2G|STAMBPL1_ENST00000371924.1_Missense_Mutation_p.R168G|STAMBPL1_ENST00000371926.3_Missense_Mutation_p.R168G	p.R168G			Q96FJ0	STALP_HUMAN		Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05)	6	1460	+		Colorectal(252;0.0381)	168					B3KPA7|Q5T9N4|Q5T9N9|Q7Z420|Q9P2H4	Missense_Mutation	SNP	ENST00000371926.3	37	c.502C>G	CCDS7391.1	.	.	.	.	.	.	.	.	.	.	C	18.65	3.668890	0.67814	.	.	ENSG00000138134	ENST00000371926;ENST00000371927;ENST00000371924;ENST00000371922	T;T;T;T	0.26223	1.84;1.82;1.84;1.75	5.98	3.96	0.45880	.	0.000000	0.64402	D	0.000001	T	0.38401	0.1039	L	0.35414	1.06	0.41790	D	0.989865	D;D	0.89917	0.994;1.0	D;D	0.81914	0.931;0.995	T	0.17410	-1.0370	10	0.87932	D	0	-2.7026	13.68	0.62479	0.29:0.71:0.0:0.0	.	168;168	Q96FJ0-2;Q96FJ0	.;STALP_HUMAN	G	168;168;168;2	ENSP00000360994:R168G;ENSP00000360995:R168G;ENSP00000360992:R168G;ENSP00000360990:R2G	ENSP00000360990:R2G	R	+	1	0	STAMBPL1	90662919	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.901000	0.28445	2.834000	0.97654	0.655000	0.94253	CGC		0.443	STAMBPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049283.1	NM_020799		12	65	0	0	0	1	0	12	65				
C19orf26	255057	broad.mit.edu	37	19	1235783	1235783	+	Silent	SNP	G	G	A			TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr19:1235783G>A	ENST00000382477.2	-	3	496	c.222C>T	c.(220-222)ctC>ctT	p.L74L	C19orf26_ENST00000215376.6_Silent_p.L74L|C19orf26_ENST00000590083.1_Silent_p.L80L|AC004221.2_ENST00000592843.1_lincRNA			Q8N350	DOS_HUMAN	chromosome 19 open reading frame 26	74						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCACCTGTTGAGGCGCTGGT	0.662										HNSCC(14;0.022)																												ENST00000590083.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						c.(238-240)ctC>ctT		chromosome 19 open reading frame 26							68.0	55.0	60.0					19																	1235783		2203	4300	6503	SO:0001819	synonymous_variant	255057					integral to membrane		g.chr19:1235783G>A	BC028156	CCDS12057.1, CCDS12057.2	19p13.3	2012-10-24			ENSG00000099625	ENSG00000099625			28617	protein-coding gene	gene with protein product	"""downstream of STK11"""					12477932	Standard	NM_152769		Approved	MGC40084, DOS	uc002lrm.3	Q8N350	OTTHUMG00000180141	ENST00000382477.2:c.222C>T	19.37:g.1235783G>A		HNSCC(14;0.022)				C19orf26_ENST00000215376.6_Silent_p.L74L|C19orf26_ENST00000382477.2_Silent_p.L74L	p.L80L			Q8N350	DOS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	532	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	74					O43385	Silent	SNP	ENST00000382477.2	37	c.240C>T																																																																																					0.662	C19orf26-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_152769		5	27	0	0	0	1	0	5	27				
FANCM	57697	broad.mit.edu	37	14	45639819	45639819	+	Missense_Mutation	SNP	A	A	T			TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr14:45639819A>T	ENST00000267430.5	+	12	2115	c.2030A>T	c.(2029-2031)gAt>gTt	p.D677V	FANCM_ENST00000542564.2_Missense_Mutation_p.D651V	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	677					DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						CTAAAGAAAGATTGGTTCTTA	0.299								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000267430.5																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						c.(2029-2031)gAt>gTt	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group M							48.0	52.0	51.0					14																	45639819		2202	4299	6501	SO:0001583	missense	57697	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	g.chr14:45639819A>T	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"""Fanconi anemia, complementation groups"""	23168	protein-coding gene	gene with protein product		609644	"""KIAA1596"""	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.2030A>T	14.37:g.45639819A>T	ENSP00000267430:p.Asp677Val					FANCM_ENST00000542564.2_Missense_Mutation_p.D651V	p.D677V	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN			12	2115	+			677					B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	ENST00000267430.5	37	c.2030A>T	CCDS32070.1	.	.	.	.	.	.	.	.	.	.	A	13.01	2.110453	0.37242	.	.	ENSG00000187790	ENST00000267430;ENST00000542564;ENST00000556250	T;T;T	0.25085	2.59;2.55;1.82	5.35	0.133	0.14766	.	1.530840	0.03024	N	0.151107	T	0.35008	0.0917	M	0.64997	1.995	0.35428	D	0.793807	P;P	0.50156	0.932;0.932	P;B	0.48454	0.578;0.388	T	0.43909	-0.9362	10	0.56958	D	0.05	.	6.5231	0.22287	0.5756:0.1334:0.291:0.0	.	651;677	B2RTQ9;Q8IYD8	.;FANCM_HUMAN	V	677;651;193	ENSP00000267430:D677V;ENSP00000442493:D651V;ENSP00000452033:D193V	ENSP00000267430:D677V	D	+	2	0	FANCM	44709569	0.978000	0.34361	0.930000	0.37139	0.825000	0.46686	0.757000	0.26433	0.333000	0.23563	-0.379000	0.06801	GAT		0.299	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128		5	44	0	0	0	1	0	5	44				
BAGE2	85319	broad.mit.edu	37	21	11058348	11058348	+	RNA	SNP	C	C	A			TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr21:11058348C>A	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GGAGAGAAATCTCTTTATAAA	0.343																																						ENST00000470054.1																			0													B melanoma antigen family, member 2							34.0	29.0	30.0					21																	11058348		692	1591	2283			85319							g.chr21:11058348C>A	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11058348C>A												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.343	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		5	105	1	0	0.000602214	1	0.000629588	5	105				
DHX38	9785	broad.mit.edu	37	16	72134479	72134479	+	Missense_Mutation	SNP	A	A	C			TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr16:72134479A>C	ENST00000268482.3	+	9	1770	c.1261A>C	c.(1261-1263)Att>Ctt	p.I421L	DHX38_ENST00000536867.1_Intron	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	421					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				GGATGGGCGCATTGTCTTCAC	0.587																																					Melanoma(97;711 1442 7855 13832 28836)	ENST00000268482.3																			0				endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48						c.(1261-1263)Att>Ctt		DEAH (Asp-Glu-Ala-His) box polypeptide 38							139.0	109.0	119.0					16																	72134479		2198	4300	6498	SO:0001583	missense	9785				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr16:72134479A>C	AF038391	CCDS10907.1	16q22	2008-02-05	2003-06-13	2003-06-20	ENSG00000140829	ENSG00000140829		"""DEAH-boxes"""	17211	protein-coding gene	gene with protein product		605584	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 38"""	DDX38		9524131, 9039502	Standard	NM_014003		Approved	PRP16, KIAA0224, hPrp16, PRPF16	uc002fcb.3	Q92620	OTTHUMG00000137596	ENST00000268482.3:c.1261A>C	16.37:g.72134479A>C	ENSP00000268482:p.Ile421Leu					DHX38_ENST00000536867.1_Intron	p.I421L	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN			9	1770	+		Ovarian(137;0.125)	421					B4DVG8|D3DWS7|O75212|Q96HN7	Missense_Mutation	SNP	ENST00000268482.3	37	c.1261A>C	CCDS10907.1	.	.	.	.	.	.	.	.	.	.	A	17.60	3.431050	0.62844	.	.	ENSG00000140829	ENST00000268482	T	0.49432	0.78	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.44307	0.1287	L	0.49513	1.565	0.80722	D	1	B	0.20780	0.048	B	0.16289	0.015	T	0.33266	-0.9875	10	0.44086	T	0.13	.	15.36	0.74464	1.0:0.0:0.0:0.0	.	421	Q92620	PRP16_HUMAN	L	421	ENSP00000268482:I421L	ENSP00000268482:I421L	I	+	1	0	DHX38	70691980	1.000000	0.71417	0.993000	0.49108	0.957000	0.61999	8.869000	0.92326	2.026000	0.59711	0.459000	0.35465	ATT		0.587	DHX38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269004.3	NM_014003		13	30	0	0	0	1	0	13	30				
BBS5	129880	broad.mit.edu	37	2	170349443	170349443	+	Missense_Mutation	SNP	A	A	G			TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr2:170349443A>G	ENST00000295240.3	+	6	822	c.446A>G	c.(445-447)aAc>aGc	p.N149S	RP11-724O16.1_ENST00000513963.1_Missense_Mutation_p.N149S|BBS5_ENST00000392663.2_Missense_Mutation_p.N149S|BBS5_ENST00000554017.1_Missense_Mutation_p.N149S	NM_152384.2	NP_689597.1	Q8N3I7	BBS5_HUMAN	Bardet-Biedl syndrome 5	149					cilium assembly (GO:0042384)|heart looping (GO:0001947)|melanosome transport (GO:0032402)|motile cilium assembly (GO:0044458)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphatidylinositol-3-phosphate binding (GO:0032266)|RNA polymerase II repressing transcription factor binding (GO:0001103)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						CTAATTCAGAACAAGCAACTA	0.313									Bardet-Biedl syndrome																													ENST00000295240.3																			0				endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(445-447)aAc>aGc		Bardet-Biedl syndrome 5							92.0	90.0	91.0					2																	170349443		2203	4298	6501	SO:0001583	missense	129880	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome				g.chr2:170349443A>G	AY604003	CCDS2233.1	2q31	2011-08-02			ENSG00000163093	ENSG00000163093			970	protein-coding gene	gene with protein product		603650				9888993, 10053027	Standard	NM_152384		Approved	DKFZp762I194		Q8N3I7	OTTHUMG00000132207	ENST00000295240.3:c.446A>G	2.37:g.170349443A>G	ENSP00000295240:p.Asn149Ser					BBS5_ENST00000554017.1_Missense_Mutation_p.N149S|RP11-724O16.1_ENST00000513963.1_Missense_Mutation_p.N149S|BBS5_ENST00000392663.2_Missense_Mutation_p.N149S	p.N149S	NM_152384.2	NP_689597.1					6	822	+								D3DPC3|Q6PKN0	Missense_Mutation	SNP	ENST00000295240.3	37	c.446A>G	CCDS2233.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.157685	0.78114	.	.	ENSG00000163093;ENSG00000163093;ENSG00000163093;ENSG00000251569	ENST00000295240;ENST00000554017;ENST00000392663;ENST00000513963	T;T;T;T	0.74002	1.4;1.4;-0.8;1.4	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.77711	0.4171	L	0.45698	1.435	0.80722	D	1	P;B;B	0.50066	0.931;0.29;0.124	P;B;B	0.54270	0.747;0.082;0.133	T	0.74355	-0.3692	10	0.24483	T	0.36	-14.9331	16.099	0.81152	1.0:0.0:0.0:0.0	.	149;149;149	E9PBE3;Q8N3I7-2;Q8N3I7	.;.;BBS5_HUMAN	S	149	ENSP00000295240:N149S;ENSP00000452313:N149S;ENSP00000376431:N149S;ENSP00000424363:N149S	ENSP00000295240:N149S	N	+	2	0	BBS5;RP11-724O16.1	170057689	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.201000	0.95017	2.210000	0.71456	0.482000	0.46254	AAC		0.313	BBS5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255265.2	NM_152384		5	30	0	0	0	1	0	5	30				
TRIM51	84767	broad.mit.edu	37	11	55652923	55652923	+	Missense_Mutation	SNP	C	C	A			TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr11:55652923C>A	ENST00000449290.2	+	2	111	c.19C>A	c.(19-21)Caa>Aaa	p.Q7K	TRIM51_ENST00000244891.3_5'Flank	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	7						intracellular (GO:0005622)	zinc ion binding (GO:0008270)										TGGAATCTTGCAAGTCTTCCA	0.478																																						ENST00000449290.2																			0											c.(19-21)Caa>Aaa		tripartite motif-containing 51							11.0	9.0	9.0					11																	55652923		691	1586	2277	SO:0001583	missense	84767					intracellular	zinc ion binding	g.chr11:55652923C>A	BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19023	protein-coding gene	gene with protein product			"""SPRY domain containing 5"""	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.19C>A	11.37:g.55652923C>A	ENSP00000395086:p.Gln7Lys						p.Q7K	NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN			2	111	+			7					A6NMG2	Missense_Mutation	SNP	ENST00000449290.2	37	c.19C>A		.	.	.	.	.	.	.	.	.	.	.	4.753	0.140013	0.09083	.	.	ENSG00000124900	ENST00000449290	D	0.83591	-1.74	0.803	-1.61	0.08399	Zinc finger, RING/FYVE/PHD-type (1);	.	.	.	.	T	0.66934	0.2840	N	0.26092	0.79	0.09310	N	1	B	0.20671	0.047	B	0.23419	0.046	T	0.52396	-0.8581	9	0.35671	T	0.21	.	1.5847	0.02641	0.3371:0.3888:0.0:0.2741	.	7	Q9BSJ1	SPRY5_HUMAN	K	7	ENSP00000395086:Q7K	ENSP00000395086:Q7K	Q	+	1	0	SPRYD5	55409499	0.048000	0.20356	0.001000	0.08648	0.168000	0.22595	-0.064000	0.11636	-0.245000	0.09625	0.152000	0.16155	CAA		0.478	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681		23	52	1	0	4.22769e-11	1	4.94425e-11	23	52				
KRT24	192666	broad.mit.edu	37	17	38859719	38859719	+	Missense_Mutation	SNP	C	C	A			TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr17:38859719C>A	ENST00000264651.2	-	1	283	c.227G>T	c.(226-228)gGt>gTt	p.G76V		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	76	Gly-rich.|Head.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				TCCCCCAAAACCACCCCCTAC	0.602																																					GBM(61;380 1051 14702 23642 31441)	ENST00000264651.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(226-228)gGt>gTt		keratin 24							48.0	62.0	57.0					17																	38859719		2203	4300	6503	SO:0001583	missense	192666					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38859719C>A		CCDS11372.1	17q21.2	2013-06-25			ENSG00000167916	ENSG00000167916		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	18527	protein-coding gene	gene with protein product		607742				16831889	Standard	NM_019016		Approved	FLJ20261, MGC138169, MGC138173	uc002hvd.3	Q2M2I5	OTTHUMG00000133372	ENST00000264651.2:c.227G>T	17.37:g.38859719C>A	ENSP00000264651:p.Gly76Val						p.G76V	NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN			1	283	-		Breast(137;0.00526)	76			Gly-rich.|Head.		Q9NXG7	Missense_Mutation	SNP	ENST00000264651.2	37	c.227G>T	CCDS11372.1	.	.	.	.	.	.	.	.	.	.	C	11.64	1.698650	0.30142	.	.	ENSG00000167916	ENST00000264651	D	0.90620	-2.7	5.04	5.04	0.67666	.	.	.	.	.	D	0.89385	0.6700	M	0.66939	2.045	0.26725	N	0.970702	P	0.35745	0.518	B	0.32864	0.154	T	0.82780	-0.0288	9	0.30854	T	0.27	.	17.7473	0.88424	0.0:1.0:0.0:0.0	.	76	Q2M2I5	K1C24_HUMAN	V	76	ENSP00000264651:G76V	ENSP00000264651:G76V	G	-	2	0	KRT24	36113245	0.012000	0.17670	0.005000	0.12908	0.009000	0.06853	2.274000	0.43390	2.501000	0.84356	0.655000	0.94253	GGT		0.602	KRT24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257217.1	NM_019016		4	48	1	0	0.00024832	1	0.000263601	4	48				
GNAI1	2770	broad.mit.edu	37	7	79818543	79818543	+	Missense_Mutation	SNP	G	G	A			TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr7:79818543G>A	ENST00000351004.3	+	3	672	c.299G>A	c.(298-300)cGg>cAg	p.R100Q	GNAI1_ENST00000457358.2_Missense_Mutation_p.R48Q|GNAI1_ENST00000490206.1_3'UTR	NM_002069.5	NP_002060.4	P63096	GNAI1_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1	100					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|response to peptide hormone (GO:0043434)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	19						GACTCAGCCCGGGCGGTAAGT	0.403																																						ENST00000351004.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	19						c.(298-300)cGg>cAg		guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1							118.0	118.0	118.0					7																	79818543		2203	4300	6503	SO:0001583	missense	2770				cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody|nucleus	G-protein beta/gamma-subunit complex binding|GTP binding|metabotropic serotonin receptor binding|signal transducer activity	g.chr7:79818543G>A	AL049933	CCDS5595.1, CCDS59061.1	7q21-q22	2008-07-18			ENSG00000127955	ENSG00000127955			4384	protein-coding gene	gene with protein product	"""Gi1 protein alpha subunit"""	139310				3110783	Standard	NM_002069		Approved		uc003uhb.1	P63096	OTTHUMG00000023523	ENST00000351004.3:c.299G>A	7.37:g.79818543G>A	ENSP00000343027:p.Arg100Gln					GNAI1_ENST00000490206.1_3'UTR|GNAI1_ENST00000457358.2_Missense_Mutation_p.R48Q	p.R100Q	NM_002069.5	NP_002060.4	P63096	GNAI1_HUMAN			3	672	+			100					A8KA88|B4E2V1|C9J3A4|P04898|P11015|P31871|Q5U074|Q8TAN5|Q9UGA4	Missense_Mutation	SNP	ENST00000351004.3	37	c.299G>A	CCDS5595.1	.	.	.	.	.	.	.	.	.	.	G	37	6.066145	0.97251	.	.	ENSG00000127955	ENST00000351004;ENST00000418742;ENST00000457358	T;T;T	0.43688	0.94;0.94;0.94	6.04	6.04	0.98038	G protein alpha subunit, helical insertion (2);	0.090424	0.85682	D	0.000000	T	0.45935	0.1367	L	0.38175	1.15	0.80722	D	1	D	0.56287	0.975	P	0.49192	0.602	T	0.11299	-1.0593	9	.	.	.	.	20.6524	0.99598	0.0:0.0:1.0:0.0	.	100	P63096	GNAI1_HUMAN	Q	100;48;48	ENSP00000343027:R100Q;ENSP00000389435:R48Q;ENSP00000410572:R48Q	.	R	+	2	0	GNAI1	79656479	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.869000	0.99810	2.890000	0.99128	0.585000	0.79938	CGG		0.403	GNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253254.1	NM_002069		5	38	0	0	0	1	0	5	38				
ACVR1C	130399	broad.mit.edu	37	2	158397662	158397662	+	Missense_Mutation	SNP	C	C	T			TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr2:158397662C>T	ENST00000243349.8	-	7	1525	c.1165G>A	c.(1165-1167)Gct>Act	p.A389T	ACVR1C_ENST00000335450.7_Missense_Mutation_p.A309T|ACVR1C_ENST00000409680.3_Missense_Mutation_p.A339T|ACVR1C_ENST00000348328.5_Missense_Mutation_p.A232T	NM_001111032.1|NM_145259.2	NP_001104502.1|NP_660302.2			activin A receptor, type IC											NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						TAGATGTCAGCTCGTTTGAAG	0.388																																						ENST00000243349.7																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						c.(1165-1167)Gct>Act		activin A receptor, type IC							140.0	142.0	141.0					2																	158397662		2203	4300	6503	SO:0001583	missense	130399				apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity	g.chr2:158397662C>T	BC022530	CCDS2205.1, CCDS46432.1, CCDS46433.1, CCDS46434.1	2q24.2	2008-02-05			ENSG00000123612	ENSG00000123612			18123	protein-coding gene	gene with protein product		608981					Standard	NM_145259		Approved	ALK7, ACVRLK7	uc002tzk.4	Q8NER5	OTTHUMG00000131964	ENST00000243349.8:c.1165G>A	2.37:g.158397662C>T	ENSP00000243349:p.Ala389Thr					ACVR1C_ENST00000335450.7_Missense_Mutation_p.A309T|ACVR1C_ENST00000348328.5_Missense_Mutation_p.A232T|ACVR1C_ENST00000409680.3_Missense_Mutation_p.A339T	p.A389T	NM_145259.2	NP_660302.2	Q8NER5	ACV1C_HUMAN			7	1525	-			389			Protein kinase.			Missense_Mutation	SNP	ENST00000243349.8	37	c.1165G>A	CCDS2205.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.675292	0.88445	.	.	ENSG00000123612	ENST00000243349;ENST00000409680;ENST00000348328;ENST00000335450	D;D;D;D	0.93659	-3.26;-3.26;-3.26;-3.26	5.3	4.37	0.52481	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.117523	0.37530	N	0.002058	D	0.95484	0.8533	M	0.66297	2.02	0.58432	D	0.999996	D;P;D	0.71674	0.998;0.903;0.997	D;B;D	0.67231	0.93;0.303;0.95	D	0.95453	0.8536	10	0.87932	D	0	.	13.4486	0.61155	0.2654:0.7346:0.0:0.0	.	232;309;389	Q8NER5-2;Q8NER5-3;Q8NER5	.;.;ACV1C_HUMAN	T	389;339;232;309	ENSP00000243349:A389T;ENSP00000387168:A339T;ENSP00000335139:A232T;ENSP00000335178:A309T	ENSP00000243349:A389T	A	-	1	0	ACVR1C	158105908	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.744000	0.62118	2.630000	0.89119	0.591000	0.81541	GCT		0.388	ACVR1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254924.2	NM_145259		12	65	0	0	0	1	0	12	65				
PKHD1L1	93035	broad.mit.edu	37	8	110495238	110495238	+	Silent	SNP	T	T	C			TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr8:110495238T>C	ENST00000378402.5	+	57	9584	c.9480T>C	c.(9478-9480)ctT>ctC	p.L3160L		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3160	G8 2. {ECO:0000255|PROSITE- ProRule:PRU00817}.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AGCTGGATCTTCATGGAATTC	0.408										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(9478-9480)ctT>ctC		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							155.0	149.0	151.0					8																	110495238		1842	4095	5937	SO:0001819	synonymous_variant	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110495238T>C	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.9480T>C	8.37:g.110495238T>C		HNSCC(38;0.096)					p.L3160L	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		57	9584	+			3160			G8 2.		Q567P2|Q9UF27	Silent	SNP	ENST00000378402.5	37	c.9480T>C	CCDS47911.1																																																																																				0.408	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		3	10	0	0	0	1	0	3	10				
CSTF3	1479	broad.mit.edu	37	11	33129494	33129494	+	Missense_Mutation	SNP	T	T	A			TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr11:33129494T>A	ENST00000323959.4	-	5	450	c.311A>T	c.(310-312)tAt>tTt	p.Y104F	CSTF3_ENST00000524827.1_Missense_Mutation_p.Y136F	NM_001326.2	NP_001317.1	Q12996	CSTF3_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa	104					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						ATATGAAAGATAACACTTCCA	0.338																																						ENST00000323959.4																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						c.(310-312)tAt>tTt		cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa							155.0	142.0	146.0					11																	33129494		2202	4298	6500	SO:0001583	missense	1479				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding	g.chr11:33129494T>A	U15782	CCDS7883.1, CCDS44563.1, CCDS44564.1	11p13	2007-01-05	2002-08-29		ENSG00000176102	ENSG00000176102			2485	protein-coding gene	gene with protein product		600367	"""cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kD"""			7984242	Standard	XM_006718154		Approved	CstF-77	uc001muh.3	Q12996	OTTHUMG00000166268	ENST00000323959.4:c.311A>T	11.37:g.33129494T>A	ENSP00000315791:p.Tyr104Phe					CSTF3_ENST00000524827.1_Missense_Mutation_p.Y136F	p.Y104F	NM_001326.2	NP_001317.1	Q12996	CSTF3_HUMAN			5	450	-			104					A8K471|D3DR04|E9PB40|Q32P22|Q96FQ8|Q96QD6|Q96QK4	Missense_Mutation	SNP	ENST00000323959.4	37	c.311A>T	CCDS7883.1	.	.	.	.	.	.	.	.	.	.	T	28.0	4.883865	0.91814	.	.	ENSG00000176102	ENST00000323959;ENST00000537832;ENST00000524827	T;T	0.53423	0.62;0.62	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.73737	0.3625	M	0.89414	3.03	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.79892	-0.1611	10	0.87932	D	0	.	15.4775	0.75497	0.0:0.0:0.0:1.0	.	104	Q12996	CSTF3_HUMAN	F	104;37;136	ENSP00000315791:Y104F;ENSP00000431355:Y136F	ENSP00000315791:Y104F	Y	-	2	0	CSTF3	33086070	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	8.035000	0.88872	2.066000	0.61787	0.533000	0.62120	TAT		0.338	CSTF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388801.1	NM_001326		25	37	0	0	0	1	0	25	37				
ZNF836	162962	broad.mit.edu	37	19	52663765	52663765	+	Missense_Mutation	SNP	A	A	C			TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr19:52663765A>C	ENST00000322146.8	-	4	616	c.95T>G	c.(94-96)tTg>tGg	p.L32W	ZNF836_ENST00000597252.1_Missense_Mutation_p.L32W|ZNF836_ENST00000597065.1_Missense_Mutation_p.L32W|CTC-471J1.8_ENST00000594362.1_RNA	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	32	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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)			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						ATCCCAGTACAAAGCTTTCTG	0.433																																						ENST00000322146.8																			0				endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(94-96)tTg>tGg		zinc finger protein 836							114.0	121.0	119.0					19																	52663765		2203	4300	6503	SO:0001583	missense	162962				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52663765A>C	BC011784	CCDS46162.1	19q13.33	2013-01-08			ENSG00000196267	ENSG00000196267		"""Zinc fingers, C2H2-type"", ""-"""	34333	protein-coding gene	gene with protein product							Standard	NM_001102657		Approved	FLJ16287	uc010ydj.2	Q6ZNA1		ENST00000322146.8:c.95T>G	19.37:g.52663765A>C	ENSP00000325038:p.Leu32Trp					ZNF836_ENST00000597065.1_Missense_Mutation_p.L32W|CTC-471J1.8_ENST00000594362.1_RNA|ZNF836_ENST00000597252.1_Missense_Mutation_p.L32W	p.L32W	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN			4	616	-			32			KRAB.			Missense_Mutation	SNP	ENST00000322146.8	37	c.95T>G	CCDS46162.1	.	.	.	.	.	.	.	.	.	.	A	14.93	2.682680	0.47991	.	.	ENSG00000196267	ENST00000322146	T	0.05513	3.43	2.06	2.06	0.26882	Krueppel-associated box (4);	.	.	.	.	T	0.38772	0.1053	H	0.99357	4.53	0.23126	N	0.998258	D	0.76494	0.999	D	0.83275	0.996	T	0.29822	-0.9999	9	0.87932	D	0	.	7.677	0.28492	1.0:0.0:0.0:0.0	.	32	Q6ZNA1	ZN836_HUMAN	W	32	ENSP00000325038:L32W	ENSP00000325038:L32W	L	-	2	0	ZNF836	57355577	0.008000	0.16893	0.093000	0.20910	0.846000	0.48090	2.444000	0.44890	0.929000	0.37192	0.402000	0.26972	TTG		0.433	ZNF836-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462456.1	NM_001102657		14	105	0	0	0	1	0	14	105				
STAMBPL1	57559	broad.mit.edu	37	10	90672938	90672938	+	Missense_Mutation	SNP	G	G	A			TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr10:90672938G>A	ENST00000371926.3	+	6	1459	c.501G>A	c.(499-501)atG>atA	p.M167I	STAMBPL1_ENST00000371924.1_Missense_Mutation_p.M167I|STAMBPL1_ENST00000371922.1_Start_Codon_SNP_p.M1I|STAMBPL1_ENST00000371927.3_Missense_Mutation_p.M167I	NM_020799.3	NP_065850.1	Q96FJ0	STALP_HUMAN	STAM binding protein-like 1	167						membrane (GO:0016020)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1)	11		Colorectal(252;0.0381)		Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05)		TTGCTCAGATGCGCCAGCAGC	0.443																																						ENST00000371927.3																			0				breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1)	11						c.(499-501)atG>atA		STAM binding protein-like 1							76.0	78.0	77.0					10																	90672938		2203	4300	6503	SO:0001583	missense	57559						metal ion binding|metallopeptidase activity|protein binding	g.chr10:90672938G>A	AB037794	CCDS7391.1	10q23.32	2006-11-08			ENSG00000138134	ENSG00000138134			24105	protein-coding gene	gene with protein product	"""associated molecule with the SH3 domain of STAM (AMSH) like protein"", ""associated molecule with the SH3 domain of STAM (AMSH) - Family Protein"""	612352				12810066, 12943674	Standard	NM_020799		Approved	AMSH-LP, KIAA1373, AMSH-FP, FLJ31524, ALMalpha, bA399O19.2	uc001kfk.4	Q96FJ0	OTTHUMG00000018702	ENST00000371926.3:c.501G>A	10.37:g.90672938G>A	ENSP00000360994:p.Met167Ile					STAMBPL1_ENST00000371922.1_Start_Codon_SNP_p.M1I|STAMBPL1_ENST00000371924.1_Missense_Mutation_p.M167I|STAMBPL1_ENST00000371926.3_Missense_Mutation_p.M167I	p.M167I			Q96FJ0	STALP_HUMAN		Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05)	6	1459	+		Colorectal(252;0.0381)	167					B3KPA7|Q5T9N4|Q5T9N9|Q7Z420|Q9P2H4	Missense_Mutation	SNP	ENST00000371926.3	37	c.501G>A	CCDS7391.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.305715	0.60305	.	.	ENSG00000138134	ENST00000371926;ENST00000371927;ENST00000371924;ENST00000371922	T;T;T;T	0.23348	1.97;1.93;1.97;1.91	5.98	5.98	0.97165	.	0.058289	0.64402	D	0.000001	T	0.28366	0.0701	L	0.46157	1.445	0.80722	D	1	B;B	0.11235	0.004;0.001	B;B	0.15052	0.012;0.002	T	0.01711	-1.1290	10	0.41790	T	0.15	-5.4911	19.0085	0.92863	0.0:0.0:1.0:0.0	.	167;167	Q96FJ0-2;Q96FJ0	.;STALP_HUMAN	I	167;167;167;1	ENSP00000360994:M167I;ENSP00000360995:M167I;ENSP00000360992:M167I;ENSP00000360990:M1I	ENSP00000360990:M1I	M	+	3	0	STAMBPL1	90662918	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.704000	0.54815	2.834000	0.97654	0.655000	0.94253	ATG		0.443	STAMBPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049283.1	NM_020799		12	65	0	0	0	1	0	12	65				
ITIH3	3699	broad.mit.edu	37	3	52840313	52840313	+	Silent	SNP	C	C	T	rs201509967		TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr3:52840313C>T	ENST00000449956.2	+	18	1953	c.1947C>T	c.(1945-1947)gaC>gaT	p.D649D	ITIH3_ENST00000416872.2_Intron	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	649					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CACCAGTGGACGGGGATCCCC	0.582																																						ENST00000449956.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25						c.(1945-1947)gaC>gaT		inter-alpha-trypsin inhibitor heavy chain 3							47.0	49.0	48.0					3																	52840313		2044	4188	6232	SO:0001819	synonymous_variant	3699				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:52840313C>T		CCDS46845.1	3p21.1	2011-10-26	2011-10-26		ENSG00000162267	ENSG00000162267			6168	protein-coding gene	gene with protein product	"""pre-alpha (globulin) inhibitor, H3 polypeptide"", ""inter-alpha-trypsin inhibitor heavy chain H3"""	146650	"""inter-alpha (globulin) inhibitor, H3 polypeptide"", ""inter-alpha (globulin) inhibitor H3"""			2465147, 10100603	Standard	NM_002217		Approved	H3P	uc003dfv.2	Q06033	OTTHUMG00000158956	ENST00000449956.2:c.1947C>T	3.37:g.52840313C>T						ITIH3_ENST00000416872.2_Intron	p.D649D	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)	18	1953	+			649					Q3B7H5|Q53F06|Q6LAM2|Q99085	Silent	SNP	ENST00000449956.2	37	c.1947C>T	CCDS46845.1	.	.	.	.	.	.	.	.	.	.	C	2.576	-0.298471	0.05532	.	.	ENSG00000162267	ENST00000398670;ENST00000536431	.	.	.	5.48	-4.01	0.04045	.	.	.	.	.	T	0.69878	0.3160	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74780	-0.3549	5	0.66056	D	0.02	-26.1627	14.6686	0.68926	0.0:0.5992:0.0:0.4008	.	.	.	.	W	650;638	.	ENSP00000381662:R650W	R	+	1	2	ITIH3	52815353	0.041000	0.20044	0.972000	0.41901	0.326000	0.28443	-1.083000	0.03397	-0.675000	0.05246	-0.415000	0.06103	CGG		0.582	ITIH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352668.2	NM_002217		5	32	0	0	0	1	0	5	32				
MECOM	2122	broad.mit.edu	37	3	168802820	168802820	+	Missense_Mutation	SNP	C	C	T			TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr3:168802820C>T	ENST00000464456.1	-	15	4206	c.3006G>A	c.(3004-3006)atG>atA	p.M1002I	MECOM_ENST00000468789.1_Missense_Mutation_p.M1011I|MECOM_ENST00000494292.1_Missense_Mutation_p.M1190I|MECOM_ENST00000472280.1_Missense_Mutation_p.M1012I|MECOM_ENST00000460814.1_3'UTR|MECOM_ENST00000392736.3_Missense_Mutation_p.M1011I|MECOM_ENST00000433243.2_Missense_Mutation_p.M1012I|MECOM_ENST00000264674.3_Missense_Mutation_p.M1076I	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						GTGACAGCATCATAGCATATG	0.453																																						ENST00000464456.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						c.(3004-3006)atG>atA		MDS1 and EVI1 complex locus							146.0	126.0	133.0					3																	168802820		2203	4300	6503	SO:0001583	missense	2122						sequence-specific DNA binding transcription factor activity	g.chr3:168802820C>T	S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"""Zinc fingers, C2H2-type"""	3498	protein-coding gene	gene with protein product		165215	"""myelodysplasia syndrome 1"", ""ecotropic viral integration site 1"""	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.3006G>A	3.37:g.168802820C>T	ENSP00000419770:p.Met1002Ile					MECOM_ENST00000460814.1_3'UTR|MECOM_ENST00000433243.2_Missense_Mutation_p.M1012I|MECOM_ENST00000392736.3_Missense_Mutation_p.M1011I|MECOM_ENST00000264674.3_Missense_Mutation_p.M1076I|MECOM_ENST00000472280.1_Missense_Mutation_p.M1012I|MECOM_ENST00000468789.1_Missense_Mutation_p.M1011I|MECOM_ENST00000494292.1_Missense_Mutation_p.M1190I	p.M1002I	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN			15	4206	-			0					Q13466|Q6FH90	Missense_Mutation	SNP	ENST00000464456.1	37	c.3006G>A	CCDS54669.1	.	.	.	.	.	.	.	.	.	.	C	17.18	3.322639	0.60634	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000433243	T;T;T;T;T;T;T	0.08807	3.11;3.09;3.05;3.19;3.06;3.09;3.19	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.27313	0.0670	L	0.57536	1.79	0.80722	D	1	D;D;D;D	0.58268	0.982;0.982;0.982;0.969	D;D;D;D	0.68943	0.961;0.961;0.961;0.914	T	0.00036	-1.2253	10	0.44086	T	0.13	-14.9983	20.0368	0.97565	0.0:1.0:0.0:0.0	.	1199;1003;1076;1011	Q03112-3;Q03112-6;Q03112-4;Q03112	.;.;.;EVI1_HUMAN	I	1076;1011;1002;1012;1190;1011;1012	ENSP00000264674:M1076I;ENSP00000376493:M1011I;ENSP00000419770:M1002I;ENSP00000420048:M1012I;ENSP00000417899:M1190I;ENSP00000419995:M1011I;ENSP00000394302:M1012I	ENSP00000264674:M1076I	M	-	3	0	MECOM	170285514	1.000000	0.71417	1.000000	0.80357	0.716000	0.41182	7.141000	0.77330	2.735000	0.93741	0.563000	0.77884	ATG		0.453	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	NM_005241, NM_004991		20	40	0	0	0	1	0	20	40				
FBXO18	84893	broad.mit.edu	37	10	5966434	5966434	+	Missense_Mutation	SNP	G	G	T			TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr10:5966434G>T	ENST00000362091.4	+	17	2674	c.2559G>T	c.(2557-2559)agG>agT	p.R853S	FBXO18_ENST00000397269.3_Missense_Mutation_p.R340S|FBXO18_ENST00000379999.5_Missense_Mutation_p.R904S	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	853					DNA catabolic process, endonucleolytic (GO:0000737)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of protein phosphorylation (GO:0001934)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						TGGTGCAAAGGATAGAAAAAT	0.458																																						ENST00000379999.5																			0				NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						c.(2710-2712)agG>agT		F-box protein, helicase, 18							99.0	104.0	102.0					10																	5966434		2203	4300	6503	SO:0001583	missense	84893				DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr10:5966434G>T	AK095343	CCDS7072.1, CCDS7073.1, CCDS73064.1	10p15.1	2004-08-24	2004-06-15		ENSG00000134452	ENSG00000134452		"""F-boxes /  ""other"""""	13620	protein-coding gene	gene with protein product		607222	"""F-box only protein 18"""			10531037, 11956208	Standard	NM_032807		Approved	FBH1, FLJ14590, Fbx18	uc001iit.4	Q8NFZ0	OTTHUMG00000017609	ENST00000362091.4:c.2559G>T	10.37:g.5966434G>T	ENSP00000355415:p.Arg853Ser					FBXO18_ENST00000379994.1_Intron|FBXO18_ENST00000397269.3_Missense_Mutation_p.R340S|FBXO18_ENST00000362091.4_Missense_Mutation_p.R853S	p.R904S	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN			18	2816	+			853					Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	Missense_Mutation	SNP	ENST00000362091.4	37	c.2712G>T	CCDS7072.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.979238	0.53827	.	.	ENSG00000134452	ENST00000397269;ENST00000362091;ENST00000379999	.	.	.	5.33	4.42	0.53409	.	0.143562	0.64402	D	0.000014	T	0.58466	0.2124	L	0.34521	1.04	0.45452	D	0.99842	P;D;P	0.55605	0.928;0.972;0.619	P;P;P	0.54100	0.546;0.742;0.455	T	0.56703	-0.7935	9	0.32370	T	0.25	-24.9075	15.3785	0.74633	0.0:0.1402:0.8598:0.0	.	904;853;779	Q8NFZ0-2;Q8NFZ0;Q2TAK1	.;FBX18_HUMAN;.	S	340;853;904	.	ENSP00000355415:R853S	R	+	3	2	FBXO18	6006440	1.000000	0.71417	1.000000	0.80357	0.413000	0.31143	1.176000	0.31957	1.378000	0.46305	0.555000	0.69702	AGG		0.458	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046596.1	NM_032807		16	24	1	0	3.52763e-06	1	3.8636e-06	16	24				
PLXNB1	5364	broad.mit.edu	37	3	48452351	48452351	+	Missense_Mutation	SNP	T	T	G			TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr3:48452351T>G	ENST00000358536.4	-	29	5611	c.5342A>C	c.(5341-5343)aAg>aCg	p.K1781T	PLXNB1_ENST00000296440.6_Missense_Mutation_p.K1781T|PLXNB1_ENST00000358459.4_Missense_Mutation_p.K1598T|PLXNB1_ENST00000448774.2_Missense_Mutation_p.K392T|PLXNB1_ENST00000456774.1_Missense_Mutation_p.K1598T|PLXNB1_ENST00000465117.1_5'Flank	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1781					axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CATCTTCTCCTTTGCCTGGGA	0.612																																						ENST00000358536.4																			0				NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47						c.(5341-5343)aAg>aCg		plexin B1							73.0	64.0	67.0					3																	48452351		2203	4300	6503	SO:0001583	missense	5364				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding	g.chr3:48452351T>G	X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"""Plexins"""	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.5342A>C	3.37:g.48452351T>G	ENSP00000351338:p.Lys1781Thr					PLXNB1_ENST00000296440.6_Missense_Mutation_p.K1781T|PLXNB1_ENST00000358459.4_Missense_Mutation_p.K1598T|PLXNB1_ENST00000456774.1_Missense_Mutation_p.K1598T|PLXNB1_ENST00000448774.2_Missense_Mutation_p.K392T	p.K1781T	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	29	5611	-			1781					A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Missense_Mutation	SNP	ENST00000358536.4	37	c.5342A>C	CCDS2765.1	.	.	.	.	.	.	.	.	.	.	T	27.9	4.873180	0.91664	.	.	ENSG00000164050	ENST00000296440;ENST00000358459;ENST00000358536;ENST00000448774;ENST00000456774	T;T;T;T;T	0.23950	1.88;1.88;1.88;1.88;1.88	4.97	4.97	0.65823	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.58004	0.2092	M	0.90814	3.15	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.67983	-0.5529	10	0.87932	D	0	.	13.838	0.63421	0.0:0.0:0.0:1.0	.	1781;1598	O43157;O43157-2	PLXB1_HUMAN;.	T	1781;1598;1781;392;1598	ENSP00000296440:K1781T;ENSP00000351242:K1598T;ENSP00000351338:K1781T;ENSP00000389320:K392T;ENSP00000414199:K1598T	ENSP00000296440:K1781T	K	-	2	0	PLXNB1	48427355	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.981000	0.88123	1.851000	0.53745	0.533000	0.62120	AAG		0.612	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344454.1	NM_002673		10	8	0	0	0	1	0	10	8				
ZNF778	197320	broad.mit.edu	37	16	89294750	89294750	+	Missense_Mutation	SNP	C	C	T			TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr16:89294750C>T	ENST00000433976.2	+	6	2302	c.1970C>T	c.(1969-1971)tCc>tTc	p.S657F	ZNF778_ENST00000306502.6_Missense_Mutation_p.S615F|RP11-46C24.6_ENST00000563182.1_RNA	NM_001201407.1|NM_182531.3	NP_001188336.1|NP_872337.2	Q96MU6	ZN778_HUMAN	zinc finger protein 778	657					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24				BRCA - Breast invasive adenocarcinoma(80;0.0269)		TTCCGTGCCTCCTCTCACCTG	0.428																																						ENST00000433976.2																			0				endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24						c.(1969-1971)tCc>tTc		zinc finger protein 778							56.0	60.0	58.0					16																	89294750		2181	4293	6474	SO:0001583	missense	197320				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:89294750C>T	AK056437	CCDS45550.1, CCDS73928.1	16q24.3	2014-09-17			ENSG00000170100	ENSG00000170100		"""Zinc fingers, C2H2-type"", ""-"""	26479	protein-coding gene	gene with protein product							Standard	NM_182531		Approved	FLJ31875	uc021tms.1	Q96MU6		ENST00000433976.2:c.1970C>T	16.37:g.89294750C>T	ENSP00000405289:p.Ser657Phe					ZNF778_ENST00000306502.6_Missense_Mutation_p.S615F|RP11-46C24.6_ENST00000563182.1_RNA	p.S657F	NM_001201407.1|NM_182531.3	NP_001188336.1|NP_872337.2	Q96MU6	ZN778_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0269)	6	2302	+			657					Q08AG0	Missense_Mutation	SNP	ENST00000433976.2	37	c.1970C>T	CCDS45550.1	.	.	.	.	.	.	.	.	.	.	C	10.58	1.389678	0.25118	.	.	ENSG00000170100	ENST00000433976;ENST00000306502	T;T	0.08008	3.14;3.14	1.13	-0.119	0.13543	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12050	0.0293	L	0.48260	1.515	0.09310	N	1	P;P	0.51537	0.946;0.91	P;P	0.54026	0.74;0.554	T	0.27673	-1.0067	9	0.25106	T	0.35	.	6.6229	0.22812	0.0:0.6972:0.3028:0.0	.	615;657	Q96MU6-2;Q96MU6	.;ZN778_HUMAN	F	657;615	ENSP00000405289:S657F;ENSP00000305203:S615F	ENSP00000305203:S615F	S	+	2	0	ZNF778	87822251	0.001000	0.12720	0.002000	0.10522	0.142000	0.21351	0.878000	0.28126	-0.005000	0.14395	0.558000	0.71614	TCC		0.428	ZNF778-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430383.1	NM_182531		7	16	0	0	0	1	0	7	16				
EPCAM	4072	broad.mit.edu	37	2	47606938	47606938	+	Missense_Mutation	SNP	A	A	C			TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr2:47606938A>C	ENST00000263735.4	+	7	1046	c.688A>C	c.(688-690)Aaa>Caa	p.K230Q	EPCAM_ENST00000405271.1_Missense_Mutation_p.K258Q|MIR559_ENST00000385188.1_RNA	NM_002354.2	NP_002345.2	P16422	EPCAM_HUMAN	epithelial cell adhesion molecule	230					negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction involved in regulation of gene expression (GO:0023019)|stem cell differentiation (GO:0048863)|ureteric bud development (GO:0001657)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	protein complex binding (GO:0032403)	p.0?(2)|p.?(1)		endometrium(3)|large_intestine(1)|liver(2)|lung(7)|skin(1)|stomach(1)	15						TCATTCTAAGAAAATGGACCT	0.343																																						ENST00000263735.4																			3	Whole gene deletion(2)|Unknown(1)	p.0?(2)|p.?(1)	haematopoietic_and_lymphoid_tissue(3)	endometrium(3)|large_intestine(1)|liver(2)|lung(7)|skin(1)|stomach(1)	15						c.(688-690)Aaa>Caa		epithelial cell adhesion molecule							92.0	93.0	92.0					2																	47606938		2203	4300	6503	SO:0001583	missense	4072				positive regulation of cell proliferation	apical plasma membrane|basolateral plasma membrane|integral to membrane|lateral plasma membrane|tight junction	protein binding	g.chr2:47606938A>C	M33011	CCDS1833.1	2p21	2014-09-17	2008-12-16	2008-12-16	ENSG00000119888	ENSG00000119888		"""CD molecules"""	11529	protein-coding gene	gene with protein product		185535	"""antigen identified by monoclonal antibody AUA1"", ""tumor-associated calcium signal transducer 1"""	M4S1, MIC18, TACSTD1		8382772, 11306819	Standard	NM_002354		Approved	Ly74, TROP1, GA733-2, EGP34, EGP40, EGP-2, KSA, CD326, Ep-CAM, HEA125, KS1/4, MK-1, MH99, MOC31, 323/A3, 17-1A, TACST-1, CO-17A, ESA	uc002rvx.3	P16422	OTTHUMG00000128853	ENST00000263735.4:c.688A>C	2.37:g.47606938A>C	ENSP00000263735:p.Lys230Gln					EPCAM_ENST00000405271.1_Missense_Mutation_p.K258Q	p.K230Q	NM_002354.2	NP_002345.2	P16422	EPCAM_HUMAN			7	1046	+			230					P18180|Q6FG26|Q6FG49|Q96C47|Q9UCD0	Missense_Mutation	SNP	ENST00000263735.4	37	c.688A>C	CCDS1833.1	.	.	.	.	.	.	.	.	.	.	A	9.682	1.149550	0.21288	.	.	ENSG00000119888	ENST00000405271;ENST00000263735	T;T	0.73363	-0.74;-0.72	5.45	3.0	0.34707	.	0.611227	0.19654	N	0.109126	T	0.57577	0.2063	L	0.36672	1.1	0.09310	N	1	P;P	0.45902	0.779;0.868	B;B	0.36666	0.125;0.23	T	0.49476	-0.8936	10	0.34782	T	0.22	-1.0035	7.3608	0.26745	0.7501:0.1211:0.1288:0.0	.	230;258	P16422;B5MCA4	EPCAM_HUMAN;.	Q	258;230	ENSP00000385476:K258Q;ENSP00000263735:K230Q	ENSP00000263735:K230Q	K	+	1	0	EPCAM	47460442	0.000000	0.05858	0.001000	0.08648	0.683000	0.39861	1.171000	0.31896	0.886000	0.36113	-0.478000	0.04885	AAA		0.343	EPCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250792.2			26	35	0	0	0	1	0	26	35				
REPS1	85021	broad.mit.edu	37	6	139262626	139262626	+	Splice_Site	SNP	C	C	A			TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr6:139262626C>A	ENST00000450536.2	-	8	1555	c.981G>T	c.(979-981)tgG>tgT	p.W327C	REPS1_ENST00000367663.4_Splice_Site_p.W327C|REPS1_ENST00000415951.2_Splice_Site_p.W327C|REPS1_ENST00000409812.2_Splice_Site_p.W327C|REPS1_ENST00000258062.5_Splice_Site_p.W327C			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	327	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.|EH 2. {ECO:0000255|PROSITE- ProRule:PRU00077}.				receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|SH3 domain binding (GO:0017124)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		CTGAGAGTTCCCTAGAAGATA	0.368																																						ENST00000450536.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19						c.e8-1		RALBP1 associated Eps domain containing 1							114.0	114.0	114.0					6																	139262626		2203	4300	6503	SO:0001630	splice_region_variant	85021					coated pit|plasma membrane	calcium ion binding|SH3 domain binding	g.chr6:139262626C>A		CCDS5193.2, CCDS47488.1, CCDS69212.1, CCDS69213.1	6q24.1	2013-01-10			ENSG00000135597	ENSG00000135597		"""EF-hand domain containing"""	15578	protein-coding gene	gene with protein product		614825					Standard	XM_005267177		Approved		uc011edr.2	Q96D71	OTTHUMG00000015685	ENST00000450536.2:c.981-1G>T	6.37:g.139262626C>A						REPS1_ENST00000258062.5_Splice_Site_p.W327_splice|REPS1_ENST00000415951.2_Splice_Site_p.W327_splice|REPS1_ENST00000367663.4_Splice_Site_p.W327_splice|REPS1_ENST00000409812.2_Splice_Site_p.W327_splice	p.W327_splice			Q96D71	REPS1_HUMAN		GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)	8	1555	-			327			EF-hand.|EH 2.		B7ZBZ8|B7ZBZ9|B7ZC00|J3KP76|Q5JWJ5|Q5JWJ6|Q5JWJ7|Q8NDR7|Q8WU62|Q9BXY9	Splice_Site	SNP	ENST00000450536.2	37	c.980_splice		.	.	.	.	.	.	.	.	.	.	C	24.5	4.535476	0.85812	.	.	ENSG00000135597	ENST00000450536;ENST00000367663;ENST00000529597;ENST00000409812;ENST00000258062;ENST00000415951;ENST00000367668	T;T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66;0.66	5.97	5.97	0.96955	EPS15 homology (EH) (2);EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.79070	0.4384	H	0.96691	3.865	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;1.0	D	0.85071	0.0940	10	0.87932	D	0	.	20.4388	0.99107	0.0:1.0:0.0:0.0	.	327;327;327;327	Q96D71-3;Q96D71-2;Q96D71;E9PMG1	.;.;REPS1_HUMAN;.	C	327;327;313;327;327;327;275	ENSP00000392065:W327C;ENSP00000356635:W327C;ENSP00000434251:W313C;ENSP00000386699:W327C;ENSP00000258062:W327C;ENSP00000397941:W327C	ENSP00000258062:W327C	W	-	3	0	REPS1	139304319	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.786000	0.85741	2.836000	0.97738	0.655000	0.94253	TGG		0.368	REPS1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000042447.3		Missense_Mutation	19	35	1	0	1.01871e-10	1	1.17152e-10	19	35				
KRT25	147183	broad.mit.edu	37	17	38907296	38907296	+	Silent	SNP	G	G	A			TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr17:38907296G>A	ENST00000312150.4	-	5	927	c.867C>T	c.(865-867)gtC>gtT	p.V289V		NM_181534.3	NP_853512.1			keratin 25											endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				TTGTGGCTCCGACATCCTCAG	0.483																																						ENST00000312150.4																			0				endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16						c.(865-867)gtC>gtT		keratin 25							94.0	91.0	92.0					17																	38907296		2203	4300	6503	SO:0001819	synonymous_variant	147183					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38907296G>A	AK129503	CCDS11373.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000204897	ENSG00000204897		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30839	protein-coding gene	gene with protein product			"""keratin 25A"""	KRT25A		16831889	Standard	NM_181534		Approved		uc002hve.3	Q7Z3Z0	OTTHUMG00000133373	ENST00000312150.4:c.867C>T	17.37:g.38907296G>A							p.V289V	NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN			5	927	-		Breast(137;0.00526)	289			Coil 2.|Rod.			Silent	SNP	ENST00000312150.4	37	c.867C>T	CCDS11373.1																																																																																				0.483	KRT25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257218.1	NM_181534		4	57	0	0	0	1	0	4	57				
GLUD1	2746	broad.mit.edu	37	10	88818951	88818951	+	Missense_Mutation	SNP	C	C	T			TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr10:88818951C>T	ENST00000277865.4	-	10	1454	c.1358G>A	c.(1357-1359)cGt>cAt	p.R453H	GLUD1_ENST00000544149.1_Missense_Mutation_p.R320H|GLUD1_ENST00000537649.1_Missense_Mutation_p.R286H|GLUD1_ENST00000465164.1_5'Flank	NM_005271.3	NP_005262.1	P00367	DHE3_HUMAN	glutamate dehydrogenase 1	453					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamine metabolic process (GO:0006541)|positive regulation of insulin secretion (GO:0032024)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|tricarboxylic acid metabolic process (GO:0072350)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|identical protein binding (GO:0042802)|leucine binding (GO:0070728)|NAD+ binding (GO:0070403)			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1)	22					Hexachlorophene(DB00756)	GAAGGTCAAACGGCCATAGCT	0.403																																						ENST00000277865.4																			0				endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1)	22						c.(1357-1359)cGt>cAt		glutamate dehydrogenase 1	L-Glutamic Acid(DB00142)|NADH(DB00157)						183.0	179.0	180.0					10																	88818951		2203	4298	6501	SO:0001583	missense	2746				glutamate biosynthetic process|glutamate catabolic process|positive regulation of insulin secretion	mitochondrial matrix	ADP binding|ATP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|identical protein binding|leucine binding|NAD+ binding	g.chr10:88818951C>T	M20867	CCDS7382.1	10q23.2	2010-03-17			ENSG00000148672	ENSG00000148672	1.4.1.3		4335	protein-coding gene	gene with protein product		138130		GLUD		2757358	Standard	NM_005271		Approved	GDH	uc001keh.3	P00367	OTTHUMG00000018666	ENST00000277865.4:c.1358G>A	10.37:g.88818951C>T	ENSP00000277865:p.Arg453His					GLUD1_ENST00000544149.1_Missense_Mutation_p.R320H|GLUD1_ENST00000537649.1_Missense_Mutation_p.R286H	p.R453H	NM_005271.3	NP_005262.1	P00367	DHE3_HUMAN			10	1454	-			453					B3KV55|B4DGN5|Q5TBU3	Missense_Mutation	SNP	ENST00000277865.4	37	c.1358G>A	CCDS7382.1	.	.	.	.	.	.	.	.	.	.	C	34	5.301047	0.95601	.	.	ENSG00000148672	ENST00000277865;ENST00000394415;ENST00000537649;ENST00000535802;ENST00000513510;ENST00000544149	D;D;D	0.95342	-3.68;-3.68;-3.68	5.72	5.72	0.89469	Glutamate/phenylalanine/leucine/valine dehydrogenase, C-terminal (2);NAD(P)-binding domain (1);	0.049708	0.85682	N	0.000000	D	0.98444	0.9482	H	0.97051	3.93	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98911	1.0780	10	0.87932	D	0	-2.3173	20.3045	0.98621	0.0:1.0:0.0:0.0	.	320;453	B4DGN5;P00367	.;DHE3_HUMAN	H	453;410;286;152;385;320	ENSP00000277865:R453H;ENSP00000439291:R286H;ENSP00000444732:R320H	ENSP00000277865:R453H	R	-	2	0	GLUD1	88808931	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.486000	0.81215	2.878000	0.98634	0.650000	0.86243	CGT		0.403	GLUD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049188.1	NM_005271		4	163	0	0	0	1	0	4	163				
ZNF598	90850	broad.mit.edu	37	16	2049812	2049812	+	Missense_Mutation	SNP	C	C	A			TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr16:2049812C>A	ENST00000563630.1	-	9	1815	c.1573G>T	c.(1573-1575)Gcc>Tcc	p.A525S	ZNF598_ENST00000431526.1_Missense_Mutation_p.A580S|ZNF598_ENST00000562103.1_Missense_Mutation_p.A525S|AC005606.15_ENST00000567515.1_lincRNA			Q86UK7	ZN598_HUMAN	zinc finger protein 598	580							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						TGGATGGAGGCCAGCCCCAGT	0.667																																						ENST00000563630.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						c.(1573-1575)Gcc>Tcc		zinc finger protein 598							14.0	17.0	16.0					16																	2049812		1922	4123	6045	SO:0001583	missense	90850					intracellular	zinc ion binding	g.chr16:2049812C>A	BC029270		16p13.3	2008-05-02				ENSG00000167962		"""Zinc fingers, C2H2-type"""	28079	protein-coding gene	gene with protein product							Standard	NM_178167		Approved	FLJ00086	uc002cof.2	Q86UK7		ENST00000563630.1:c.1573G>T	16.37:g.2049812C>A	ENSP00000455882:p.Ala525Ser					ZNF598_ENST00000562103.1_Missense_Mutation_p.A525S|ZNF598_ENST00000431526.1_Missense_Mutation_p.A580S	p.A525S			Q86UK7	ZN598_HUMAN			9	1815	-			580					Q8IW49|Q8N3D9|Q96FG3|Q9H7J3	Missense_Mutation	SNP	ENST00000563630.1	37	c.1573G>T		.	.	.	.	.	.	.	.	.	.	.	4.159	0.028031	0.08054	.	.	ENSG00000167962	ENST00000431526	T	0.15834	2.39	4.39	3.36	0.38483	.	0.961429	0.08763	N	0.897420	T	0.09774	0.0240	N	0.21194	0.64	0.09310	N	0.999999	B	0.20988	0.05	B	0.17979	0.02	T	0.35943	-0.9768	10	0.06891	T	0.86	-7.5205	6.6123	0.22759	0.2698:0.5801:0.1501:0.0	.	580	Q86UK7	ZN598_HUMAN	S	580	ENSP00000411409:A580S	ENSP00000411409:A580S	A	-	1	0	ZNF598	1989813	0.156000	0.22821	0.016000	0.15963	0.015000	0.08874	1.554000	0.36266	2.288000	0.76882	0.650000	0.86243	GCC		0.667	ZNF598-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000434439.1	NM_178167		6	10	1	0	2.0095e-06	1	2.23638e-06	6	10				
TSN	7247	broad.mit.edu	37	2	122520661	122520661	+	Splice_Site	SNP	G	G	C			TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr2:122520661G>C	ENST00000389682.3	+	5	700		c.e5+1		TSN_ENST00000409193.1_Splice_Site|TSN_ENST00000536142.1_Intron|TSN_ENST00000498545.1_Splice_Site	NM_001261401.1|NM_004622.2	NP_001248330.1|NP_004613.1	Q15631	TSN_HUMAN	translin						DNA recombination (GO:0006310)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|mRNA binding (GO:0003729)|sequence-specific DNA binding (GO:0043565)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(3)|skin(1)	12		Ovarian(717;0.0563)|Prostate(154;0.116)				CAGTGAACTGGTAAGCTCAGT	0.378																																						ENST00000389682.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(3)|skin(1)	12						c.e5+1		translin							81.0	81.0	81.0					2																	122520661		2203	4300	6503	SO:0001630	splice_region_variant	7247				DNA recombination	cytoplasm|nucleus	sequence-specific DNA binding	g.chr2:122520661G>C	X78627	CCDS33284.1, CCDS58723.1	2q21.1	2008-05-23			ENSG00000211460	ENSG00000211460			12379	protein-coding gene	gene with protein product	"""recombination hotspot associated factor"""	600575				7947454, 9244443	Standard	NM_004622		Approved	TRSLN, BCLF-1, REHF-1	uc002tnl.3	Q15631	OTTHUMG00000153334	ENST00000389682.3:c.453+1G>C	2.37:g.122520661G>C						TSN_ENST00000498545.1_Splice_Site|TSN_ENST00000409193.1_Splice_Site|TSN_ENST00000536142.1_Intron		NM_001261401.1|NM_004622.2	NP_001248330.1|NP_004613.1	Q15631	TSN_HUMAN			5	700	+		Ovarian(717;0.0563)|Prostate(154;0.116)						B7Z3X8|Q5U0K7	Splice_Site	SNP	ENST00000389682.3	37		CCDS33284.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.551793	0.86127	.	.	ENSG00000211460	ENST00000455432;ENST00000389682;ENST00000413418;ENST00000409193	.	.	.	5.59	5.59	0.84812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5843	0.91182	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TSN	122237131	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.950000	0.93019	2.621000	0.88768	0.591000	0.81541	.		0.378	TSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330767.1	NM_004622	Intron	6	23	0	0	0	1	0	6	23				
COL5A3	50509	broad.mit.edu	37	19	10090686	10090686	+	Missense_Mutation	SNP	C	C	T			TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr19:10090686C>T	ENST00000264828.3	-	36	2727	c.2642G>A	c.(2641-2643)gGg>gAg	p.G881E		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	881	Triple-helical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GCCCTTTGGCCCAGGGAATCC	0.607																																						ENST00000264828.3																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116						c.(2641-2643)gGg>gAg		collagen, type V, alpha 3							46.0	42.0	43.0					19																	10090686		2203	4300	6503	SO:0001583	missense	50509				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	g.chr19:10090686C>T	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.2642G>A	19.37:g.10090686C>T	ENSP00000264828:p.Gly881Glu						p.G881E	NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)		36	2727	-			881			Triple-helical region.		Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	c.2642G>A	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	C	16.30	3.084211	0.55861	.	.	ENSG00000080573	ENST00000264828	D	0.99429	-5.89	4.5	4.5	0.54988	.	0.000000	0.64402	U	0.000002	D	0.99664	0.9875	H	0.96208	3.785	0.58432	D	0.999998	D	0.89917	1.0	D	0.80764	0.994	D	0.97420	1.0008	10	0.87932	D	0	.	14.6968	0.69129	0.0:1.0:0.0:0.0	.	881	P25940	CO5A3_HUMAN	E	881	ENSP00000264828:G881E	ENSP00000264828:G881E	G	-	2	0	COL5A3	9951686	1.000000	0.71417	0.995000	0.50966	0.803000	0.45373	7.190000	0.77755	2.058000	0.61347	0.467000	0.42956	GGG		0.607	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		3	26	0	0	0	1	0	3	26				
SPOP	8405	broad.mit.edu	37	17	47696688	47696688	+	Missense_Mutation	SNP	T	T	C			TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr17:47696688T>C	ENST00000393328.2	-	5	625	c.260A>G	c.(259-261)tAc>tGc	p.Y87C	SPOP_ENST00000393331.3_Missense_Mutation_p.Y87C|SPOP_ENST00000513080.1_5'UTR|SPOP_ENST00000347630.2_Missense_Mutation_p.Y87C|SPOP_ENST00000504102.1_Missense_Mutation_p.Y87C|SPOP_ENST00000503676.1_Missense_Mutation_p.Y87C	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>tGc		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>C	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>G	17.37:g.47696688T>C	ENSP00000377001:p.Tyr87Cys	Prostate(2;0.17)				SPOP_ENST00000347630.2_Missense_Mutation_p.Y87C|SPOP_ENST00000393328.2_Missense_Mutation_p.Y87C|SPOP_ENST00000503676.1_Missense_Mutation_p.Y87C|SPOP_ENST00000504102.1_Missense_Mutation_p.Y87C|SPOP_ENST00000513080.1_5'UTR	p.Y87C	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>G	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.356797	0.82243	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121;ENST00000515508	T;T;T;T;T;T;T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41	5.52	5.52	0.82312	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.81346	0.4803	M	0.93550	3.43	0.80722	D	1	P	0.43633	0.813	P	0.49226	0.603	D	0.85384	0.1121	10	0.54805	T	0.06	-9.2801	15.4649	0.75390	0.0:0.0:0.0:1.0	.	87	O43791	SPOP_HUMAN	C	87;87;87;87;87;40;87;87;87;87;87	ENSP00000377001:Y87C;ENSP00000377004:Y87C;ENSP00000240327:Y87C;ENSP00000425905:Y87C;ENSP00000420908:Y87C;ENSP00000426986:Y87C;ENSP00000420960:Y87C;ENSP00000426262:Y87C;ENSP00000424119:Y87C;ENSP00000426537:Y87C	ENSP00000240327:Y87C	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		32	34	0	0	0	1	0	32	34				
IGHV1OR15-9	390531	broad.mit.edu	37	15	20170312	20170312	+	RNA	SNP	C	C	A			TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr15:20170312C>A	ENST00000338912.5	-	0	42									immunoglobulin heavy variable 1/OR15-9 (non-functional)																		ATCCTACCTGCAGCTATGACC	0.542																																						ENST00000338912.5																			0																				123.0	118.0	120.0					15																	20170312		1895	4119	6014			0							g.chr15:20170312C>A	L25542		15q11.1	2013-10-18	2008-08-22		ENSG00000188403	ENSG00000188403		"""Immunoglobulins / IGH orphons"""	5569	other	immunoglobulin gene			"""immunoglobulin heavy variable 1/OR15-9"", ""V-set and immunoglobulin domain containing 7"""	VSIG7		7959766	Standard	NG_032069		Approved	IGHV1/OR15-9, IGHV1OR159			OTTHUMG00000171652		15.37:g.20170312C>A														0	42	-									RNA	SNP	ENST00000338912.5	37																																																																																						0.542	IGHV1OR15-9-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000414646.4			45	53	1	0	5.13769e-22	1	6.11208e-22	45	53				
AC008132.13	0	broad.mit.edu	37	22	18842438	18842438	+	Intron	SNP	G	G	A	rs9604886		TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr22:18842438G>A	ENST00000412938.1	+	4	2208																											TGGGGAAGAGGAGAGTGGCTC	0.627																																						ENST00000412938.1																			0																																																	SO:0001627	intron_variant	0							g.chr22:18842438G>A																												ENST00000412938.1:c.2209-865G>A	22.37:g.18842438G>A														0	2208	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.627	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			3	14	0	0	0	1	0	3	14				
POU5F1B	5462	broad.mit.edu	37	8	128428375	128428375	+	Silent	SNP	C	C	T			TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr8:128428375C>T	ENST00000465342.2	+	2	1421	c.264C>T	c.(262-264)ggC>ggT	p.G88G	POU5F1B_ENST00000391675.1_Silent_p.G88G|CASC8_ENST00000501396.1_RNA|CASC8_ENST00000502082.1_RNA|CASC8_ENST00000523825.1_RNA			Q06416	P5F1B_HUMAN	POU class 5 homeobox 1B	88					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(1)|prostate(1)|urinary_tract(1)	3						TGCCCCAAGGCGGCTTGGAGA	0.667																																						ENST00000465342.2																			0				lung(1)|prostate(1)|urinary_tract(1)	3						c.(262-264)ggC>ggT		POU class 5 homeobox 1B							2.0	2.0	2.0					8																	128428375		587	1429	2016	SO:0001819	synonymous_variant	5462					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr8:128428375C>T	AF268615	CCDS55274.1	8q24.21	2011-06-20	2009-04-15	2009-04-15	ENSG00000212993	ENSG00000212993		"""Homeoboxes / POU class"""	9223	protein-coding gene	gene with protein product		615739	"""POU domain class 5, transcription factor 1 pseudogene 1"", ""POU class 5 homeobox 1 pseudogene 1"""	OTF3P1, POU5F1P1		1408763	Standard	NM_001159542		Approved	OTF3C	uc003ysf.3	Q06416	OTTHUMG00000157807	ENST00000465342.2:c.264C>T	8.37:g.128428375C>T						CASC8_ENST00000501396.1_RNA|CASC8_ENST00000523825.1_RNA|POU5F1B_ENST00000391675.1_Silent_p.G88G|CASC8_ENST00000502082.1_RNA	p.G88G			Q06416	P5F1B_HUMAN			2	1421	+			88					D5K9S4|D5K9S9|D5K9T0|D5K9T1|D5K9T3|D5K9U3|D5K9U6|D5K9V4|D5K9V6|D5K9W0|D5K9W2|D5K9W7|D5K9X2|D5K9X3|D5K9X5|D5K9X8|D5K9X9|E9LRB1|E9LRB2|E9LRH5|E9LRH6|E9LRH7|E9LRK4|E9LRK5|E9LRK7|E9LRK8|E9LRM7|E9LRM9|E9LRN2|E9LRN4|E9LRN5|E9LRP8|E9LRQ0|E9LRQ2|E9LRQ3|E9LRQ4|E9LRQ5|E9LRS3|Q2VIK6|Q9BZV7|Q9BZV9	Silent	SNP	ENST00000465342.2	37	c.264C>T	CCDS55274.1																																																																																				0.667	POU5F1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349649.2	NM_001159542		9	26	0	0	0	1	0	9	26				
RAB3C	115827	broad.mit.edu	37	5	57913607	57913607	+	Silent	SNP	C	C	T			TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr5:57913607C>T	ENST00000282878.4	+	2	331	c.162C>T	c.(160-162)tcC>tcT	p.S54S		NM_138453.2	NP_612462.1	Q96E17	RAB3C_HUMAN	RAB3C, member RAS oncogene family	54					antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|vesicle (GO:0031982)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)	21		all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664)		OV - Ovarian serous cystadenocarcinoma(10;1.8e-34)		CAGATGACTCCTTTACATCTG	0.383																																						ENST00000282878.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)	21						c.(160-162)tcC>tcT		RAB3C, member RAS oncogene family							80.0	72.0	75.0					5																	57913607		2203	4299	6502	SO:0001819	synonymous_variant	115827				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr5:57913607C>T	AY026936	CCDS3976.1	5q13	2008-02-05			ENSG00000152932	ENSG00000152932		"""RAB, member RAS oncogene"""	30269	protein-coding gene	gene with protein product		612829				12296628	Standard	NM_138453		Approved		uc003jrp.3	Q96E17	OTTHUMG00000097053	ENST00000282878.4:c.162C>T	5.37:g.57913607C>T							p.S54S	NM_138453.2	NP_612462.1	Q96E17	RAB3C_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;1.8e-34)	2	331	+		all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664)	54						Silent	SNP	ENST00000282878.4	37	c.162C>T	CCDS3976.1																																																																																				0.383	RAB3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214156.2	NM_138453		6	18	0	0	0	1	0	6	18				
RBM15	64783	broad.mit.edu	37	1	110883036	110883036	+	Frame_Shift_Del	DEL	G	G	-			TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr1:110883036delG	ENST00000369784.3	+	1	1909	c.1009delG	c.(1009-1011)gagfs	p.E337fs	RBM15_ENST00000487146.2_Frame_Shift_Del_p.E337fs|RBM15_ENST00000602849.1_Frame_Shift_Del_p.E337fs|RP5-1074L1.1_ENST00000449169.1_RNA	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	337					negative regulation of myeloid cell differentiation (GO:0045638)|patterning of blood vessels (GO:0001569)|placenta blood vessel development (GO:0060674)|positive regulation of transcription of Notch receptor target (GO:0007221)|spleen development (GO:0048536)|ventricular septum morphogenesis (GO:0060412)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		CCCGTTCTATGAGAGAGTGCG	0.582			T	MKL1	acute megakaryocytic leukemia																																	ENST00000369784.3				Dom	yes		1	1p13	64783	T	RNA binding motif protein 15			L	MKL1		acute megakaryocytic leukemia		0				ovary(3)	3						c.(1009-1011)agfs		RNA binding motif protein 15							64.0	68.0	67.0					1																	110883036		2203	4300	6503	SO:0001589	frameshift_variant	64783				interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:110883036delG	AF368063	CCDS822.1, CCDS59198.1	1p13	2013-02-12			ENSG00000162775	ENSG00000162775		"""RNA binding motif (RRM) containing"""	14959	protein-coding gene	gene with protein product	"""one twenty-two"""	606077				11431691, 11344311	Standard	NM_001201545		Approved	OTT, OTT1	uc001dzl.1	Q96T37	OTTHUMG00000011284	ENST00000369784.3:c.1009delG	1.37:g.110883036delG	ENSP00000358799:p.Glu337fs					RBM15_ENST00000602849.1_Frame_Shift_Del_p.E337fs|RBM15_ENST00000487146.2_Frame_Shift_Del_p.E337fs	p.E337fs	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)	1	1909	+		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)	337					A1A693|Q3ZB86|Q4V760|Q5D058|Q5T613|Q86VW9|Q96PE4|Q96SC5|Q96SC6|Q96SC9|Q96SD0|Q96T38|Q9BRA5|Q9H6R8|Q9H9Y0	Frame_Shift_Del	DEL	ENST00000369784.3	37	c.1009delG	CCDS822.1																																																																																				0.582	RBM15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000031114.2	NM_022768		13	61						13	61	---	---	---	---
MCC	4163	broad.mit.edu	37	5	112824048	112824049	+	In_Frame_Ins	INS	-	-	GCC	rs35336557|rs531679771|rs370593160	byFrequency	TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr5:112824048_112824049insGCC	ENST00000408903.3	-	1	478_479	c.63_64insGGC	c.(61-66)ggcagc>ggcGGCagc	p.21_22insG		NM_001085377.1	NP_001078846	P23508	CRCM_HUMAN	mutated in colorectal cancers	0					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		ctgctgccgctgccgccgccgc	0.738														1663	0.332069	0.0227	0.3487	5008	,	,		8489	0.5208		0.3668	False		,,,				2504	0.5082					ENST00000408903.3																			0				endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(61-66)gggcgg>ggGGCgcgg		mutated in colorectal cancers																																				SO:0001652	inframe_insertion	4163				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity	g.chr5:112824048_112824049insGCC		CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"""EF-hand domain containing"""	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000408903.3:c.61_63dupGGC	5.37:g.112824055_112824057dupGCC	ENSP00000386227:p.Gly22_Gly23dup						p.21_22GR>GAR	NM_001085377.1	NP_001078846.1	P23508	CRCM_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)	1	478_479	-		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)	549					D3DT05|Q6ZR04	In_Frame_Ins	INS	ENST00000408903.3	37	c.63_64insGGC	CCDS43351.1																																																																																				0.738	MCC-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370839.1	NM_001085377		4	8						4	8	---	---	---	---
MUC6	4588	broad.mit.edu	37	11	1017661	1017663	+	In_Frame_Del	DEL	TGT	TGT	-			TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr11:1017661_1017663delTGT	ENST00000421673.2	-	31	5188_5190	c.5138_5140delACA	c.(5137-5142)aacatc>atc	p.N1713del		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1713	Approximate repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TTGGGGGTGATGTTGGTGGTAGA	0.527																																						ENST00000421673.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(5137-5142)atc>a		mucin 6, oligomeric mucus/gel-forming																																				SO:0001651	inframe_deletion	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1017661_1017663delTGT	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.5138_5140delACA	11.37:g.1017661_1017663delTGT	ENSP00000406861:p.Asn1713del						p.NI1713del	NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	31	5188_5190	-		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	1713			Approximate repeats.|Thr-rich.		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	In_Frame_Del	DEL	ENST00000421673.2	37	c.5138_5140delACA	CCDS44513.1																																																																																				0.527	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		12	505						12	505	---	---	---	---
CMIP	80790	broad.mit.edu	37	16	81740629	81740630	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr16:81740629_81740630delTC	ENST00000537098.3	+	20	2280_2281	c.2208_2209delTC	c.(2206-2211)agtctcfs	p.L737fs	CMIP_ENST00000398040.4_Frame_Shift_Del_p.L584fs|CMIP_ENST00000539778.2_Frame_Shift_Del_p.L643fs|CMIP_ENST00000566513.1_3'UTR	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	737						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(5)|kidney(1)|lung(7)	13						CCATGAAGAGTCTCTGCAGTTT	0.515																																						ENST00000537098.3																			0				endometrium(5)|kidney(1)|lung(7)	13						c.(2206-2211)agtcfs		c-Maf inducing protein																																				SO:0001589	frameshift_variant	80790					cytoplasm|nucleus		g.chr16:81740629_81740630delTC	AB051481	CCDS54044.1, CCDS54045.1	16q23	2011-08-04			ENSG00000153815	ENSG00000153815			24319	protein-coding gene	gene with protein product		610112				11214970, 12939343	Standard	NM_030629		Approved		uc002fgp.3	Q8IY22		ENST00000537098.3:c.2208_2209delTC	16.37:g.81740631_81740632delTC	ENSP00000446100:p.Leu737fs					CMIP_ENST00000566513.1_3'UTR|CMIP_ENST00000539778.2_Frame_Shift_Del_p.SL642fs|CMIP_ENST00000398040.4_Frame_Shift_Del_p.SL583fs	p.SL736fs	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN			20	2280_2281	+			702					Q9C0G9	Frame_Shift_Del	DEL	ENST00000537098.3	37	c.2208_2209delTC	CCDS54044.1																																																																																				0.515	CMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432399.2	NM_030629		20	141						20	141	---	---	---	---
IFNGR2	3460	broad.mit.edu	37	21	34799292	34799292	+	Frame_Shift_Del	DEL	T	T	-	rs375419913		TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr21:34799292delT	ENST00000290219.6	+	4	1162	c.514delT	c.(514-516)tttfs	p.F173fs	IFNGR2_ENST00000381995.1_Frame_Shift_Del_p.F192fs|IFNGR2_ENST00000405436.1_Frame_Shift_Del_p.F94fs	NM_005534.3	NP_005525.2	P38484	INGR2_HUMAN	interferon gamma receptor 2 (interferon gamma transducer 1)	173	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to virus (GO:0009615)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	interferon-gamma receptor activity (GO:0004906)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13					Interferon gamma-1b(DB00033)	CTCCACGGCCTTTTTTTGTTA	0.458																																						ENST00000290219.6																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13						c.(514-516)ttfs		interferon gamma receptor 2 (interferon gamma transducer 1)	Interferon gamma-1b(DB00033)						226.0	232.0	230.0					21																	34799292		2203	4300	6503	SO:0001589	frameshift_variant	3460				regulation of interferon-gamma-mediated signaling pathway|response to virus	endoplasmic reticulum|integral to plasma membrane	interferon-gamma receptor activity	g.chr21:34799292delT		CCDS33544.1	21q22.1	2014-09-17			ENSG00000159128	ENSG00000159128		"""Interferons"", ""Fibronectin type III domain containing"""	5440	protein-coding gene	gene with protein product		147569		IFNGT1		3136170	Standard	NM_005534		Approved	AF-1	uc002yrp.4	P38484	OTTHUMG00000065188	ENST00000290219.6:c.514delT	21.37:g.34799292delT	ENSP00000290219:p.Phe173fs					IFNGR2_ENST00000381995.1_Frame_Shift_Del_p.F192fs|IFNGR2_ENST00000405436.1_Frame_Shift_Del_p.F94fs	p.F173fs	NM_005534.3	NP_005525.2	P38484	INGR2_HUMAN			4	1162	+			173			Fibronectin type-III 2.		Q9BTL5	Frame_Shift_Del	DEL	ENST00000290219.6	37	c.514delT	CCDS33544.1																																																																																				0.458	IFNGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139916.1			7	270						7	270	---	---	---	---
