#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_filter	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
DEPDC1	55635	broad.mit.edu	37	1	68948029	68948029	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr1:68948029T>C	ENST00000456315.2	-	8	1576	c.1462A>G	c.(1462-1464)Act>Gct	p.T488A	RP4-694A7.2_ENST00000425820.1_RNA|DEPDC1_ENST00000370966.5_Intron	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	488					intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	GTPase activator activity (GO:0005096)	p.T488A(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		ACAGTCAAAGTAGAGGTTCTC	0.378																																						uc001dem.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1462-1464)ACT>GCT		DEP domain containing 1 isoform a							59.0	53.0	55.0					1																	68948029		1568	3582	5150	SO:0001583	missense	55635				intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding	g.chr1:68948029T>C	AK000361	CCDS644.1, CCDS44159.1	1p31.2	2008-08-19			ENSG00000024526	ENSG00000024526			22949	protein-coding gene	gene with protein product		612002					Standard	NM_001114120		Approved	DEP.8, FLJ20354, SDP35, DEPDC1A	uc001dem.4	Q5TB30	OTTHUMG00000009212	ENST00000456315.2:c.1462A>G	1.37:g.68948029T>C	ENSP00000412292:p.Thr488Ala					DEPDC1_uc001dej.3_5'Flank|DEPDC1_uc001dek.3_Intron|DEPDC1_uc001del.3_Intron	p.T488A	NM_001114120	NP_001107592	Q5TB30	DEP1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)	8	1579	-			488					A8QXE0|A8QXE1|Q05DU3|Q5TB28|Q9H9I3|Q9NX21|Q9NXZ0	Missense_Mutation	SNP	ENST00000456315.2	37	c.1462A>G	CCDS44159.1	.	.	.	.	.	.	.	.	.	.	T	3.923	-0.017772	0.07681	.	.	ENSG00000024526	ENST00000456315	T	0.08984	3.03	5.61	-3.97	0.04094	Rho GTPase activation protein (1);	0.869916	0.10313	N	0.689718	T	0.01029	0.0034	N	0.11560	0.145	0.20873	N	0.999835	B	0.02656	0.0	B	0.01281	0.0	T	0.47911	-0.9080	10	0.25106	T	0.35	-0.4578	6.3235	0.21231	0.1199:0.5526:0.1224:0.2051	.	488	Q5TB30	DEP1A_HUMAN	A	488	ENSP00000412292:T488A	ENSP00000412292:T488A	T	-	1	0	DEPDC1	68720617	0.366000	0.25014	0.972000	0.41901	0.608000	0.37181	-0.542000	0.06091	-0.379000	0.07906	-0.263000	0.10527	ACT		PASS	0.378	DEPDC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025514.2	NM_017779		16	43	16	43	---	---	---	---
ERICH3	127254	broad.mit.edu	37	1	75107143	75107144	+	Splice_Site	DNP	CC	CC	AG	rs187299651		TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr1:75107143_75107144CC>AG	ENST00000326665.5	-	5	534	c.316_316GG>CT	c.(316-318)GGgg>CTggg	p.G106L		NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		106								p.?(2)|p.G106*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GTGTGCTCTCCCTAGAATAAGA	0.391																																						uc001dgg.2																			3	Unknown(2)|Substitution - Nonsense(1)		lung(3)	ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						c.(316-318)GGA>TGA|c.e5-1		hypothetical protein LOC127254																																				SO:0001630	splice_region_variant	127254							g.chr1:75107143C>A|g.chr1:75107144C>G																												ENST00000326665.5:c.316_316delinsAG	1.37:g.75107143_75107144delinsAG							p.G106*|p.G106_splice	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			5	535	-			106|					Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Nonsense_Mutation|Splice_Site	SNP	ENST00000326665.5	37	c.316G>T|c.316_splice	CCDS30755.1																																																																																				PASS	0.391	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1		Missense_Mutation	5	49	5	49	---	---	---	---
FAM73A	374986	broad.mit.edu	37	1	78324687	78324687	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr1:78324687A>G	ENST00000370791.3	+	9	1093	c.1061A>G	c.(1060-1062)tAc>tGc	p.Y354C	FAM73A_ENST00000443751.2_Missense_Mutation_p.Y316C	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN	family with sequence similarity 73, member A	354						integral component of membrane (GO:0016021)		p.Y354C(1)		breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		TGCCCATTTTACGAGGAAGCC	0.418																																						uc001dhx.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1060-1062)TAC>TGC		hypothetical protein LOC374986							120.0	104.0	109.0					1																	78324687		2203	4300	6503	SO:0001583	missense	374986					integral to membrane		g.chr1:78324687A>G		CCDS681.1, CCDS72809.1	1p31.1	2008-02-05			ENSG00000180488	ENSG00000180488			24741	protein-coding gene	gene with protein product							Standard	NM_001270384		Approved	FLJ35093	uc010ork.3	Q8NAN2	OTTHUMG00000009766	ENST00000370791.3:c.1061A>G	1.37:g.78324687A>G	ENSP00000359827:p.Tyr354Cys					FAM73A_uc010ork.1_Missense_Mutation_p.Y354C|FAM73A_uc010orl.1_Missense_Mutation_p.Y316C|FAM73A_uc001dhy.1_Missense_Mutation_p.Y143C	p.Y354C	NM_198549	NP_940951	Q8NAN2	FA73A_HUMAN		Colorectal(170;0.226)	9	1093	+			354					Q6MZG0	Missense_Mutation	SNP	ENST00000370791.3	37	c.1061A>G	CCDS681.1	.	.	.	.	.	.	.	.	.	.	A	15.65	2.896618	0.52121	.	.	ENSG00000180488	ENST00000370791;ENST00000443751	T;T	0.35789	1.29;1.29	5.45	5.45	0.79879	.	0.061420	0.64402	D	0.000002	T	0.57858	0.2082	M	0.85197	2.74	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.977;0.998;0.977	T	0.66862	-0.5816	10	0.87932	D	0	-16.4967	15.4898	0.75597	1.0:0.0:0.0:0.0	.	316;354;354;354	F8W7S1;B7ZLZ8;Q8NAN2-2;Q8NAN2	.;.;.;FA73A_HUMAN	C	354;316	ENSP00000359827:Y354C;ENSP00000393675:Y316C	ENSP00000359827:Y354C	Y	+	2	0	FAM73A	78097275	1.000000	0.71417	0.979000	0.43373	0.236000	0.25371	8.381000	0.90152	2.066000	0.61787	0.533000	0.62120	TAC		PASS	0.418	FAM73A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000026931.1	NM_198549		5	79	5	79	---	---	---	---
ATP8B2	57198	broad.mit.edu	37	1	154316660	154316660	+	Silent	SNP	G	G	T			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr1:154316660G>T	ENST00000368489.3	+	19	2064	c.2064G>T	c.(2062-2064)ggG>ggT	p.G688G		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	674					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.G688G(1)	IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TTCAGCAAGGGGTTCCAGAGA	0.557																																						uc001fex.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(2062-2064)GGG>GGT		ATPase, class I, type 8B, member 2 isoform a							87.0	79.0	81.0					1																	154316660		2203	4300	6503	SO:0001819	synonymous_variant	57198				ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr1:154316660G>T	AB032963	CCDS1066.1, CCDS41405.1	1q21.3	2012-03-09	2012-03-09		ENSG00000143515	ENSG00000143515		"""ATPases / P-type"""	13534	protein-coding gene	gene with protein product		605867	"""ATPase, class I, type 8B, member 2"""			10574461, 11015572	Standard	NM_020452		Approved	ATPID, KIAA1137	uc001fex.3	P98198	OTTHUMG00000035979	ENST00000368489.3:c.2064G>T	1.37:g.154316660G>T							p.G688G	NM_020452	NP_065185	P98198	AT8B2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		19	2064	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		674			Cytoplasmic (Potential).		B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Silent	SNP	ENST00000368489.3	37	c.2064G>T	CCDS1066.1																																																																																				PASS	0.557	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087658.2	NM_020452		7	66	7	66	---	---	---	---
DCST1	149095	broad.mit.edu	37	1	155014074	155014074	+	Missense_Mutation	SNP	A	A	C			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr1:155014074A>C	ENST00000295542.1	+	7	829	c.733A>C	c.(733-735)Aag>Cag	p.K245Q	DCST1_ENST00000368419.2_Missense_Mutation_p.K245Q|DCST1_ENST00000392480.1_Missense_Mutation_p.K245Q|DCST1_ENST00000423025.2_Missense_Mutation_p.K220Q	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	245						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.K245Q(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			GCTGAAGACCAAGCTGCGTTG	0.612																																						uc001fgn.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(733-735)AAG>CAG		DC-STAMP domain containing 1 isoform 1							66.0	67.0	67.0					1																	155014074		2203	4300	6503	SO:0001583	missense	149095					integral to membrane	zinc ion binding	g.chr1:155014074A>C	AK057347	CCDS1083.1, CCDS44235.1	1q22	2008-02-05			ENSG00000163357	ENSG00000163357			26539	protein-coding gene	gene with protein product							Standard	NM_152494		Approved	FLJ32785	uc001fgn.2	Q5T197	OTTHUMG00000041314	ENST00000295542.1:c.733A>C	1.37:g.155014074A>C	ENSP00000295542:p.Lys245Gln					DCST1_uc010per.1_Missense_Mutation_p.K270Q|DCST1_uc010pes.1_Missense_Mutation_p.K220Q	p.K245Q	NM_152494	NP_689707	Q5T197	DCST1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.000434)		7	829	+	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		245			Extracellular (Potential).		B4DXA0|E9PHV3|Q5T198|Q6P1W6|Q71S70|Q96M70	Missense_Mutation	SNP	ENST00000295542.1	37	c.733A>C	CCDS1083.1	.	.	.	.	.	.	.	.	.	.	A	12.25	1.882214	0.33255	.	.	ENSG00000163357	ENST00000295542;ENST00000392480;ENST00000423025;ENST00000368419	T;T;T;T	0.59224	0.28;0.28;0.28;0.28	4.27	4.27	0.50696	.	0.970177	0.08446	N	0.944655	T	0.33059	0.0850	L	0.57536	1.79	0.24115	N	0.995822	P;P;P	0.45902	0.868;0.639;0.868	B;B;B	0.36666	0.23;0.091;0.23	T	0.08994	-1.0695	10	0.22109	T	0.4	-23.6134	11.6856	0.51483	1.0:0.0:0.0:0.0	.	220;270;245	E9PHV3;E9PJX3;Q5T197	.;.;DCST1_HUMAN	Q	245;245;220;245	ENSP00000295542:K245Q;ENSP00000376271:K245Q;ENSP00000387369:K220Q;ENSP00000357404:K245Q	ENSP00000295542:K245Q	K	+	1	0	DCST1	153280698	0.997000	0.39634	1.000000	0.80357	0.986000	0.74619	1.651000	0.37302	1.933000	0.56026	0.379000	0.24179	AAG		PASS	0.612	DCST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099006.1	NM_152494		17	71	17	71	---	---	---	---
ACKR1	2532	broad.mit.edu	37	1	159175347	159175347	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr1:159175347G>C	ENST00000368122.2	+	2	797	c.118G>C	c.(118-120)Gac>Cac	p.D40H	CTA-134P22.2_ENST00000609696.1_RNA|DARC_ENST00000368121.2_Missense_Mutation_p.D42H|DARC_ENST00000537147.1_Missense_Mutation_p.D40H	NM_002036.3	NP_002027.2	Q16570	ACKR1_HUMAN		40					chemokine-mediated signaling pathway (GO:0070098)|defense response (GO:0006952)|inflammatory response (GO:0006954)|regulation of chemokine production (GO:0032642)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C-C chemokine binding (GO:0019957)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.D42H(1)		large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					CCCAGATGGAGACTATGGTGC	0.537																																						uc001fto.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(118-120)GAC>CAC		Duffy blood group antigen isoform b							97.0	90.0	92.0					1																	159175347		2203	4300	6503	SO:0001583	missense	2532				defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity	g.chr1:159175347G>C																												ENST00000368122.2:c.118G>C	1.37:g.159175347G>C	ENSP00000357104:p.Asp40His					DARC_uc001ftp.3_Missense_Mutation_p.D42H	p.D40H	NM_002036	NP_002027	Q16570	DUFFY_HUMAN			2	358	+	all_hematologic(112;0.0429)		40			Extracellular (Potential).		A8YPG5|O75898|Q16300|Q8WWE3|Q9UJP0|Q9UKZ5|Q9UKZ6|Q9UQE1	Missense_Mutation	SNP	ENST00000368122.2	37	c.118G>C	CCDS1183.1	.	.	.	.	.	.	.	.	.	.	G	14.70	2.612857	0.46631	.	.	ENSG00000213088	ENST00000368122;ENST00000537147;ENST00000359381;ENST00000435307;ENST00000368121	T;T;T;T	0.28255	4.23;4.23;1.62;4.23	4.08	0.568	0.17333	.	1.825780	0.04331	U	0.352295	T	0.18676	0.0448	N	0.24115	0.695	0.09310	N	1	D;D	0.69078	0.997;0.993	P;P	0.60117	0.869;0.869	T	0.16305	-1.0407	10	0.66056	D	0.02	-10.5155	5.7353	0.18063	0.1351:0.0:0.5611:0.3039	.	42;40	Q5Y7A1;Q16570	.;DUFFY_HUMAN	H	40;40;40;42;42	ENSP00000357104:D40H;ENSP00000441985:D40H;ENSP00000398406:D42H;ENSP00000357103:D42H	ENSP00000352341:D40H	D	+	1	0	DARC	157441971	0.004000	0.15560	0.000000	0.03702	0.006000	0.05464	0.608000	0.24223	0.010000	0.14839	0.462000	0.41574	GAC		PASS	0.537	DARC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090338.2			8	89	8	89	---	---	---	---
SLAMF8	56833	broad.mit.edu	37	1	159799706	159799706	+	Missense_Mutation	SNP	G	G	A	rs138614766		TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr1:159799706G>A	ENST00000289707.5	+	2	240	c.91G>A	c.(91-93)Ggc>Agc	p.G31S	SLAMF8_ENST00000368104.4_Intron	NM_020125.2	NP_064510.1	Q9P0V8	SLAF8_HUMAN	SLAM family member 8	31					cellular response to drug (GO:0035690)|defense response to bacterium (GO:0042742)|phagosome acidification (GO:0090383)|regulation of kinase activity (GO:0043549)|regulation of NAD(P)H oxidase activity (GO:0033860)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.G31S(1)		endometrium(2)|large_intestine(4)|lung(6)	12	all_hematologic(112;0.0597)					CAAAGTCGGGGGCTCGGTGCT	0.597																																						uc001fue.3																			1	Substitution - Missense(1)		lung(1)		0						c.(91-93)GGC>AGC		SLAM family member 8 precursor		G	SER/GLY	1,4405	2.1+/-5.4	0,1,2202	95.0	106.0	102.0		91	3.5	0.4	1	dbSNP_134	102	0,8600		0,0,4300	no	missense	SLAMF8	NM_020125.2	56	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	31/286	159799706	1,13005	2203	4300	6503	SO:0001583	missense	56833					integral to membrane		g.chr1:159799706G>A	AF146761	CCDS1188.1	1q23.1	2013-01-11			ENSG00000158714	ENSG00000158714		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21391	protein-coding gene	gene with protein product		606620				11313408	Standard	NM_020125		Approved	BLAME, SBBI42, CD353	uc001fue.4	Q9P0V8	OTTHUMG00000035433	ENST00000289707.5:c.91G>A	1.37:g.159799706G>A	ENSP00000289707:p.Gly31Ser						p.G31S	NM_020125	NP_064510	Q9P0V8	SLAF8_HUMAN			2	301	+	all_hematologic(112;0.0597)		31			Extracellular (Potential).		Q32MC6|Q5VU15	Missense_Mutation	SNP	ENST00000289707.5	37	c.91G>A	CCDS1188.1	.	.	.	.	.	.	.	.	.	.	G	3.749	-0.051988	0.07362	2.27E-4	0.0	ENSG00000158714	ENST00000289707	T	0.21361	2.01	4.44	3.48	0.39840	.	0.637967	0.16167	N	0.226490	T	0.03915	0.0110	N	0.19112	0.55	0.58432	D	0.999997	B	0.18310	0.027	B	0.12837	0.008	T	0.27434	-1.0074	10	0.13470	T	0.59	-3.3363	6.9327	0.24449	0.1365:0.0:0.8635:0.0	.	31	Q9P0V8	SLAF8_HUMAN	S	31	ENSP00000289707:G31S	ENSP00000289707:G31S	G	+	1	0	SLAMF8	158066330	0.943000	0.32029	0.376000	0.26042	0.151000	0.21798	1.491000	0.35583	1.000000	0.39049	0.313000	0.20887	GGC		PASS	0.597	SLAMF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085983.1	NM_020125		9	229	9	229	---	---	---	---
F5	2153	broad.mit.edu	37	1	169489877	169489877	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr1:169489877G>T	ENST00000367797.3	-	22	6275	c.6074C>A	c.(6073-6075)tCt>tAt	p.S2025Y	F5_ENST00000367796.3_Missense_Mutation_p.S2030Y	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	2025	F5/8 type C 1. {ECO:0000255|PROSITE- ProRule:PRU00081}.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)	p.S2025Y(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	TTTTATTGTAGAGGCATCTGA	0.333																																						uc001ggg.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6						c.(6073-6075)TCT>TAT		coagulation factor V precursor	Drotrecogin alfa(DB00055)						55.0	54.0	54.0					1																	169489877		2203	4300	6503	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169489877G>T	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.6074C>A	1.37:g.169489877G>T	ENSP00000356771:p.Ser2025Tyr						p.S2025Y	NM_000130	NP_000121	P12259	FA5_HUMAN			22	6219	-	all_hematologic(923;0.208)		2025			F5/8 type C 1.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.6074C>A	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	G	17.04	3.286925	0.59867	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	D;D	0.98400	-4.91;-4.91	5.46	5.46	0.80206	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.062786	0.64402	D	0.000003	D	0.94248	0.8153	L	0.41492	1.28	0.27250	N	0.958905	B	0.28933	0.228	B	0.28385	0.089	D	0.93800	0.7100	9	0.54805	T	0.06	-20.9304	12.2667	0.54683	0.0:0.0:0.7182:0.2818	.	2025	P12259	FA5_HUMAN	Y	2025;2030	ENSP00000356771:S2025Y;ENSP00000356770:S2030Y	ENSP00000356770:S2030Y	S	-	2	0	F5	167756501	0.694000	0.27738	0.997000	0.53966	0.870000	0.49936	1.562000	0.36353	2.563000	0.86464	0.655000	0.94253	TCT		PASS	0.333	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		8	58	8	58	---	---	---	---
F5	2153	broad.mit.edu	37	1	169511269	169511269	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr1:169511269A>G	ENST00000367797.3	-	13	3260	c.3059T>C	c.(3058-3060)cTg>cCg	p.L1020P	F5_ENST00000367796.3_Missense_Mutation_p.L1025P	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1020	B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)	p.L1020P(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	GCTTTTCTTCAGTCTACTCTT	0.433																																						uc001ggg.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6						c.(3058-3060)CTG>CCG		coagulation factor V precursor	Drotrecogin alfa(DB00055)						176.0	188.0	184.0					1																	169511269		2203	4300	6503	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169511269A>G	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.3059T>C	1.37:g.169511269A>G	ENSP00000356771:p.Leu1020Pro						p.L1020P	NM_000130	NP_000121	P12259	FA5_HUMAN			13	3204	-	all_hematologic(923;0.208)		1020			B.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.3059T>C	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	A	10.43	1.348215	0.24426	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	T;T	0.26518	1.73;1.73	5.81	4.66	0.58398	.	0.795454	0.11095	N	0.600378	T	0.14227	0.0344	M	0.66939	2.045	0.23132	N	0.998243	B	0.12630	0.006	B	0.12156	0.007	T	0.08848	-1.0702	9	0.72032	D	0.01	-0.3381	8.8843	0.35394	0.9143:0.0:0.0857:0.0	.	1020	P12259	FA5_HUMAN	P	1020;1025	ENSP00000356771:L1020P;ENSP00000356770:L1025P	ENSP00000356770:L1025P	L	-	2	0	F5	167777893	0.281000	0.24258	0.050000	0.19076	0.004000	0.04260	3.339000	0.52135	1.001000	0.39076	0.462000	0.41574	CTG		PASS	0.433	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		45	260	45	260	---	---	---	---
SERPINC1	462	broad.mit.edu	37	1	173880956	173880956	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr1:173880956A>G	ENST00000367698.3	-	3	723	c.605T>C	c.(604-606)cTc>cCc	p.L202P	SERPINC1_ENST00000494024.1_5'Flank	NM_000488.3	NP_000479.1	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C (antithrombin), member 1	202					blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of inflammatory response (GO:0050728)|regulation of blood coagulation, intrinsic pathway (GO:2000266)|regulation of proteolysis (GO:0030162)|response to nutrient (GO:0007584)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.L202P(1)		NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25					Ardeparin(DB00407)|Dalteparin(DB06779)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Nadroparin(DB08813)|Sulodexide(DB06271)|Tinzaparin(DB06822)	CAGGGGCTGGAGCTTGGCTCC	0.493																																						uc001gjt.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(604-606)CTC>CCC		serpin peptidase inhibitor, clade C, member 1	Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)						142.0	127.0	132.0					1																	173880956		2203	4300	6503	SO:0001583	missense	462				blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity	g.chr1:173880956A>G	X68793	CCDS1313.1	1q25.1	2014-02-18	2005-08-18		ENSG00000117601	ENSG00000117601		"""Serine (or cysteine) peptidase inhibitors"""	775	protein-coding gene	gene with protein product	"""antithrombin III"", ""signal peptide antithrombin part 1"", ""coding sequence signal peptide antithrombin part 1"", ""antithrombin (aa 375-432)"""	107300	"""serine (or cysteine) proteinase inhibitor, clade C (antithrombin), member 1"""	AT3		3979120, 24172014	Standard	NM_000488		Approved	ATIII, MGC22579	uc001gjt.3	P01008	OTTHUMG00000037276	ENST00000367698.3:c.605T>C	1.37:g.173880956A>G	ENSP00000356671:p.Leu202Pro						p.L202P	NM_000488	NP_000479	P01008	ANT3_HUMAN			3	724	-			202					B2R6P0|P78439|P78447|Q13815|Q5TC78|Q7KZ43|Q7KZ97|Q9UC78	Missense_Mutation	SNP	ENST00000367698.3	37	c.605T>C	CCDS1313.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.282682	0.80692	.	.	ENSG00000117601	ENST00000367698	D	0.85773	-2.03	5.66	5.66	0.87406	Serpin domain (3);	0.000000	0.85682	D	0.000000	D	0.88466	0.6444	L	0.58428	1.81	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87394	0.2365	10	0.34782	T	0.22	.	15.8997	0.79362	1.0:0.0:0.0:0.0	.	202	P01008	ANT3_HUMAN	P	202	ENSP00000356671:L202P	ENSP00000356671:L202P	L	-	2	0	SERPINC1	172147579	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	8.962000	0.93254	2.157000	0.67596	0.482000	0.46254	CTC		PASS	0.493	SERPINC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090734.1	NM_000488		32	117	32	117	---	---	---	---
SERPINC1	462	broad.mit.edu	37	1	173880990	173880990	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr1:173880990G>C	ENST00000367698.3	-	3	689	c.571C>G	c.(571-573)Cag>Gag	p.Q191E	SERPINC1_ENST00000494024.1_5'Flank	NM_000488.3	NP_000479.1	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C (antithrombin), member 1	191					blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of inflammatory response (GO:0050728)|regulation of blood coagulation, intrinsic pathway (GO:2000266)|regulation of proteolysis (GO:0030162)|response to nutrient (GO:0007584)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.Q191E(1)		NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25					Ardeparin(DB00407)|Dalteparin(DB06779)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Nadroparin(DB08813)|Sulodexide(DB06271)|Tinzaparin(DB06822)	CTGATGTCCTGGTAGGTCTCA	0.488																																						uc001gjt.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1	GRCh37	CM034683	SERPINC1	M		c.(571-573)CAG>GAG		serpin peptidase inhibitor, clade C, member 1	Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)						179.0	160.0	167.0					1																	173880990		2203	4300	6503	SO:0001583	missense	462				blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity	g.chr1:173880990G>C	X68793	CCDS1313.1	1q25.1	2014-02-18	2005-08-18		ENSG00000117601	ENSG00000117601		"""Serine (or cysteine) peptidase inhibitors"""	775	protein-coding gene	gene with protein product	"""antithrombin III"", ""signal peptide antithrombin part 1"", ""coding sequence signal peptide antithrombin part 1"", ""antithrombin (aa 375-432)"""	107300	"""serine (or cysteine) proteinase inhibitor, clade C (antithrombin), member 1"""	AT3		3979120, 24172014	Standard	NM_000488		Approved	ATIII, MGC22579	uc001gjt.3	P01008	OTTHUMG00000037276	ENST00000367698.3:c.571C>G	1.37:g.173880990G>C	ENSP00000356671:p.Gln191Glu						p.Q191E	NM_000488	NP_000479	P01008	ANT3_HUMAN			3	690	-			191					B2R6P0|P78439|P78447|Q13815|Q5TC78|Q7KZ43|Q7KZ97|Q9UC78	Missense_Mutation	SNP	ENST00000367698.3	37	c.571C>G	CCDS1313.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.799616	0.90538	.	.	ENSG00000117601	ENST00000367698	D	0.82433	-1.61	5.66	5.66	0.87406	Serpin domain (3);	0.000000	0.85682	D	0.000000	D	0.87593	0.6216	L	0.58969	1.84	0.80722	D	1	D	0.71674	0.998	D	0.64237	0.923	D	0.86944	0.2081	10	0.52906	T	0.07	.	19.7525	0.96273	0.0:0.0:1.0:0.0	.	191	P01008	ANT3_HUMAN	E	191	ENSP00000356671:Q191E	ENSP00000356671:Q191E	Q	-	1	0	SERPINC1	172147613	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.476000	0.97823	2.669000	0.90835	0.591000	0.81541	CAG		PASS	0.488	SERPINC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090734.1	NM_000488		34	125	34	125	---	---	---	---
RC3H1	149041	broad.mit.edu	37	1	173962058	173962058	+	Silent	SNP	G	G	A	rs557892347		TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr1:173962058G>A	ENST00000367696.2	-	2	417	c.66C>T	c.(64-66)gaC>gaT	p.D22D	RC3H1_ENST00000367694.2_Silent_p.D22D|RC3H1_ENST00000258349.4_Silent_p.D22D			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	22					B cell homeostasis (GO:0001782)|cytoplasmic mRNA processing body assembly (GO:0033962)|lymph node development (GO:0048535)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of germinal center formation (GO:0002635)|negative regulation of T-helper cell differentiation (GO:0045623)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|posttranscriptional regulation of gene expression (GO:0010608)|protein ubiquitination (GO:0016567)|regulation of germinal center formation (GO:0002634)|regulation of mRNA stability (GO:0043488)|regulation of T cell receptor signaling pathway (GO:0050856)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.D22D(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						GAATTGTTTCGTCGAAAGTCT	0.478																																						uc001gju.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(64-66)GAC>GAT		roquin							133.0	124.0	127.0					1																	173962058		2203	4300	6503	SO:0001819	synonymous_variant	149041				cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:173962058G>A	AK093501	CCDS30940.1, CCDS72987.1	1q25.1	2013-01-18	2010-09-15		ENSG00000135870	ENSG00000135870		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	29434	protein-coding gene	gene with protein product	"""KIAA2025 protein"""	609424	"""ring finger and CCCH-type zinc finger domains 1"""			15917799	Standard	XM_005244918		Approved	KIAA2025, roquin, RP5-1198E17.5, RNF198	uc001gju.4	Q5TC82	OTTHUMG00000037275	ENST00000367696.2:c.66C>T	1.37:g.173962058G>A						RC3H1_uc010pms.1_Silent_p.D22D|RC3H1_uc001gjv.2_Silent_p.D22D|RC3H1_uc010pmt.1_Silent_p.D22D	p.D22D	NM_172071	NP_742068	Q5TC82	RC3H1_HUMAN			1	153	-			22			RING-type; degenerate.		B3KVK1|Q5W180|Q5W181|Q8IVE6|Q8N9V1	Silent	SNP	ENST00000367696.2	37	c.66C>T	CCDS30940.1																																																																																				PASS	0.478	RC3H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090733.2	NM_172071		4	111	4	111	---	---	---	---
AXDND1	126859	broad.mit.edu	37	1	179460734	179460734	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr1:179460734C>T	ENST00000367618.3	+	19	2540	c.2153C>T	c.(2152-2154)cCc>cTc	p.P718L	AXDND1_ENST00000457238.2_3'UTR|AL160286.1_ENST00000600581.1_5'Flank	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	718								p.P718L(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						TTAATGATACCCAACTTTACT	0.378																																						uc001gmo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2152-2154)CCC>CTC		hypothetical protein LOC126859 isoform 1							125.0	121.0	123.0					1																	179460734		2203	4300	6503	SO:0001583	missense	126859							g.chr1:179460734C>T	BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 125"""	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.2153C>T	1.37:g.179460734C>T	ENSP00000356590:p.Pro718Leu					C1orf125_uc009wxg.2_RNA|C1orf125_uc010pnl.1_RNA|C1orf125_uc001gmp.2_Missense_Mutation_p.P718L|C1orf125_uc009wxh.2_RNA	p.P718L	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN			19	2280	+			718					Q6AWB2|Q96LJ3|Q96M01	Missense_Mutation	SNP	ENST00000367618.3	37	c.2153C>T	CCDS30948.1	.	.	.	.	.	.	.	.	.	.	C	17.79	3.477001	0.63849	.	.	ENSG00000162779	ENST00000367618;ENST00000360322;ENST00000434088	T;T	0.24723	1.84;1.84	5.5	5.5	0.81552	.	0.066281	0.64402	D	0.000013	T	0.47710	0.1460	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.27502	-1.0072	10	0.37606	T	0.19	-0.2532	14.8984	0.70659	0.0:1.0:0.0:0.0	.	676;718	E9PCJ4;Q5T1B0	.;AXDN1_HUMAN	L	718;676;652	ENSP00000356590:P718L;ENSP00000391716:P652L	ENSP00000353471:P676L	P	+	2	0	AXDND1	177727357	1.000000	0.71417	1.000000	0.80357	0.441000	0.31987	2.106000	0.41835	2.578000	0.87016	0.591000	0.81541	CCC		PASS	0.378	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085312.1	NM_144696		7	92	7	92	---	---	---	---
F13B	2165	broad.mit.edu	37	1	197026480	197026480	+	Silent	SNP	C	C	T			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr1:197026480C>T	ENST00000367412.1	-	6	964	c.921G>A	c.(919-921)gaG>gaA	p.E307E		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	307	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)	extracellular region (GO:0005576)		p.E307E(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						ACCCATGGATCTCAAAATTAA	0.378																																						uc001gtt.1																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(919-921)GAG>GAA		coagulation factor XIII B subunit precursor							198.0	184.0	188.0					1																	197026480		2203	4300	6503	SO:0001819	synonymous_variant	2165				blood coagulation	extracellular region		g.chr1:197026480C>T	M14057	CCDS1388.1	1q31-q32.1	2012-10-02			ENSG00000143278	ENSG00000143278			3534	protein-coding gene	gene with protein product		134580				2339067, 2271707	Standard	NM_001994		Approved	FXIIIB	uc001gtt.1	P05160	OTTHUMG00000036519	ENST00000367412.1:c.921G>A	1.37:g.197026480C>T							p.E307E	NM_001994	NP_001985	P05160	F13B_HUMAN			6	965	-			307			Sushi 5.		A8K3E5|Q5VYL5	Silent	SNP	ENST00000367412.1	37	c.921G>A	CCDS1388.1																																																																																				PASS	0.378	F13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088821.2	NM_001994		21	126	21	126	---	---	---	---
SYT2	127833	broad.mit.edu	37	1	202572227	202572227	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr1:202572227G>A	ENST00000367267.1	-	4	557	c.365C>T	c.(364-366)aCa>aTa	p.T122I	SYT2_ENST00000367268.4_Missense_Mutation_p.T122I|RP11-569A11.1_ENST00000428573.1_RNA	NM_001136504.1	NP_001129976.1	Q8N9I0	SYT2_HUMAN	synaptotagmin II	122					neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)	p.T122I(1)		NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	AGTCAGGCCTGTCTCTGCGTC	0.552																																						uc001gye.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(364-366)ACA>ATA		synaptotagmin II	Botulinum Toxin Type B(DB00042)						124.0	108.0	113.0					1																	202572227		2203	4300	6503	SO:0001583	missense	127833				neurotransmitter secretion	cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	protein binding|transporter activity	g.chr1:202572227G>A	AK090672	CCDS1427.1	1q32.1	2013-01-21			ENSG00000143858	ENSG00000143858		"""Synaptotagmins"""	11510	protein-coding gene	gene with protein product		600104				7749232	Standard	NM_177402		Approved		uc010pqb.2	Q8N9I0	OTTHUMG00000041388	ENST00000367267.1:c.365C>T	1.37:g.202572227G>A	ENSP00000356236:p.Thr122Ile					SYT2_uc010pqb.1_Missense_Mutation_p.T122I|SYT2_uc009xaf.2_5'UTR	p.T122I	NM_001136504	NP_001129976	Q8N9I0	SYT2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.169)		4	558	-			122			Cytoplasmic (Potential).		Q496K5|Q8NBE5	Missense_Mutation	SNP	ENST00000367267.1	37	c.365C>T	CCDS1427.1	.	.	.	.	.	.	.	.	.	.	G	13.62	2.291466	0.40494	.	.	ENSG00000143858	ENST00000367268;ENST00000367267	T;T	0.42900	0.96;0.96	5.31	3.42	0.39159	.	0.718498	0.13400	N	0.390683	T	0.38427	0.1040	M	0.65320	2	0.43988	D	0.996685	B	0.20671	0.047	B	0.19391	0.025	T	0.23013	-1.0200	10	0.38643	T	0.18	.	7.4639	0.27310	0.1503:0.1645:0.6852:0.0	.	122	Q8N9I0	SYT2_HUMAN	I	122	ENSP00000356237:T122I;ENSP00000356236:T122I	ENSP00000356236:T122I	T	-	2	0	SYT2	200838850	0.997000	0.39634	0.978000	0.43139	0.980000	0.70556	2.463000	0.45058	1.219000	0.43474	0.655000	0.94253	ACA		PASS	0.552	SYT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099157.1	NM_177402		4	129	4	129	---	---	---	---
PLXNA2	5362	broad.mit.edu	37	1	208390594	208390594	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr1:208390594A>G	ENST00000367033.3	-	2	1431	c.674T>C	c.(673-675)cTc>cCc	p.L225P		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	225	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.L225P(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GATCTTGATGAGAGAGGAGAC	0.542																																						uc001hgz.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(673-675)CTC>CCC		plexin A2 precursor							183.0	190.0	187.0					1																	208390594		2203	4300	6503	SO:0001583	missense	5362				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr1:208390594A>G	X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.674T>C	1.37:g.208390594A>G	ENSP00000356000:p.Leu225Pro					PLXNA2_uc001hha.3_Missense_Mutation_p.L279P	p.L225P	NM_025179	NP_079455	O75051	PLXA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.199)	2	1432	-			225			Extracellular (Potential).|Sema.		A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	ENST00000367033.3	37	c.674T>C	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	A	16.29	3.080203	0.55753	.	.	ENSG00000076356	ENST00000367033	T	0.13778	2.56	5.71	5.71	0.89125	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.64402	D	0.000001	T	0.28433	0.0703	L	0.51422	1.61	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.72982	0.979;0.953	T	0.01287	-1.1395	10	0.33141	T	0.24	.	11.1129	0.48243	0.8621:0.0:0.0:0.1379	.	279;225	O75051-2;O75051	.;PLXA2_HUMAN	P	225	ENSP00000356000:L225P	ENSP00000356000:L225P	L	-	2	0	PLXNA2	206457217	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.655000	0.67981	2.178000	0.69098	0.460000	0.39030	CTC		PASS	0.542	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		16	301	16	301	---	---	---	---
INTS7	25896	broad.mit.edu	37	1	212149931	212149931	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr1:212149931G>T	ENST00000366994.3	-	12	1705	c.1601C>A	c.(1600-1602)tCc>tAc	p.S534Y	INTS7_ENST00000440600.2_Missense_Mutation_p.S485Y|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366992.3_Missense_Mutation_p.S534Y|INTS7_ENST00000366993.3_Missense_Mutation_p.S534Y	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	534					cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|snRNA processing (GO:0016180)	chromosome (GO:0005694)|integrator complex (GO:0032039)		p.S534Y(1)		NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		TACCATTCTGGAAGCCTGTCT	0.403																																						uc001hiw.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1600-1602)TCC>TAC		integrator complex subunit 7							144.0	131.0	136.0					1																	212149931		2203	4300	6503	SO:0001583	missense	25896				snRNA processing	integrator complex	protein binding	g.chr1:212149931G>T	AK022509	CCDS1501.1, CCDS55684.1, CCDS55683.1, CCDS55685.1	1q32.3	2008-02-05	2006-03-15	2006-03-15	ENSG00000143493	ENSG00000143493			24484	protein-coding gene	gene with protein product		611350	"""chromosome 1 open reading frame 73"""	C1orf73		16239144	Standard	NM_015434		Approved	DKFZP434B168, INT7	uc001hiw.2	Q9NVH2	OTTHUMG00000037119	ENST00000366994.3:c.1601C>A	1.37:g.212149931G>T	ENSP00000355961:p.Ser534Tyr					INTS7_uc009xdb.1_Missense_Mutation_p.S534Y|INTS7_uc001hix.1_Missense_Mutation_p.S410Y|INTS7_uc001hiy.1_Missense_Mutation_p.S534Y|INTS7_uc010pta.1_Missense_Mutation_p.S485Y	p.S534Y	NM_015434	NP_056249	Q9NVH2	INT7_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)	12	1706	-			534					B4DLZ6|B7WNP6|B7WPB6|Q8N4K7|Q8WUH5|Q9H9V3|Q9NVU5|Q9UFC6|Q9UFM3	Missense_Mutation	SNP	ENST00000366994.3	37	c.1601C>A	CCDS1501.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.023388	0.93462	.	.	ENSG00000143493	ENST00000366994;ENST00000366993;ENST00000366992;ENST00000440600	T;T;T;T	0.28454	1.61;1.61;1.61;1.61	5.87	5.87	0.94306	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.56156	0.1966	M	0.65498	2.005	0.80722	D	1	D;D;D;D	0.69078	0.997;0.997;0.997;0.997	D;D;D;D	0.80764	0.994;0.994;0.994;0.994	T	0.44742	-0.9308	10	0.34782	T	0.22	-16.1684	20.2181	0.98305	0.0:0.0:1.0:0.0	.	485;534;534;534	B4DLZ6;Q9NVH2-3;Q9NVH2-2;Q9NVH2	.;.;.;INT7_HUMAN	Y	534;534;534;485	ENSP00000355961:S534Y;ENSP00000355960:S534Y;ENSP00000355959:S534Y;ENSP00000388908:S485Y	ENSP00000355959:S534Y	S	-	2	0	INTS7	210216554	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.499000	0.97975	2.785000	0.95823	0.655000	0.94253	TCC		PASS	0.403	INTS7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090142.1	NM_015434		5	135	5	135	---	---	---	---
ESRRG	2104	broad.mit.edu	37	1	216737588	216737588	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr1:216737588T>C	ENST00000408911.3	-	5	988	c.835A>G	c.(835-837)Atc>Gtc	p.I279V	ESRRG_ENST00000360012.3_Missense_Mutation_p.I256V|ESRRG_ENST00000493748.1_Missense_Mutation_p.I256V|ESRRG_ENST00000493603.1_Missense_Mutation_p.I256V|ESRRG_ENST00000366937.1_Missense_Mutation_p.I291V|ESRRG_ENST00000463665.1_Missense_Mutation_p.I217V|ESRRG_ENST00000366940.2_Missense_Mutation_p.I256V|ESRRG_ENST00000391890.3_Missense_Mutation_p.I263V|ESRRG_ENST00000359162.2_Missense_Mutation_p.I256V|ESRRG_ENST00000487276.1_Missense_Mutation_p.I256V|ESRRG_ENST00000361395.2_Missense_Mutation_p.I256V|ESRRG_ENST00000361525.3_Missense_Mutation_p.I256V|ESRRG_ENST00000366938.2_Missense_Mutation_p.I256V	NM_001438.3	NP_001429.2	P62508	ERR3_HUMAN	estrogen-related receptor gamma	279					gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	AF-2 domain binding (GO:0050682)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.I279V(1)		endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	CATCCAATGATAACCACCAAC	0.443																																						uc001hkw.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)	2						c.(835-837)ATC>GTC		estrogen-related receptor gamma isoform 1	Diethylstilbestrol(DB00255)						156.0	140.0	146.0					1																	216737588		2203	4300	6503	SO:0001583	missense	2104				positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr1:216737588T>C	AF058291	CCDS1517.1, CCDS41468.1, CCDS58060.1, CCDS58061.1	1q41	2014-02-18			ENSG00000196482	ENSG00000196482		"""Nuclear hormone receptors"""	3474	protein-coding gene	gene with protein product		602969				9676434, 10072763	Standard	NM_001243505		Approved	NR3B3	uc001hkw.2	P62508	OTTHUMG00000037025	ENST00000408911.3:c.835A>G	1.37:g.216737588T>C	ENSP00000386171:p.Ile279Val					ESRRG_uc001hky.1_Missense_Mutation_p.I256V|ESRRG_uc009xdp.1_Missense_Mutation_p.I256V|ESRRG_uc001hkz.1_Missense_Mutation_p.I217V|ESRRG_uc010puc.1_Missense_Mutation_p.I256V|ESRRG_uc001hla.1_Missense_Mutation_p.I256V|ESRRG_uc001hlb.1_Missense_Mutation_p.I256V|ESRRG_uc010pud.1_Missense_Mutation_p.I87V|ESRRG_uc001hlc.1_Missense_Mutation_p.I256V|ESRRG_uc001hld.1_Missense_Mutation_p.I256V|ESRRG_uc001hkx.1_Missense_Mutation_p.I291V|ESRRG_uc009xdo.1_Missense_Mutation_p.I256V|ESRRG_uc001hle.1_Missense_Mutation_p.I256V	p.I279V	NM_001438	NP_001429	P62508	ERR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	5	1001	-			279					A8K4I0|A8K6I2|B3KY84|E9PGB7|F8W8J3|O75454|O96021|Q68DA0|Q6P274|Q6PK28|Q6TS38|Q9R1F3|Q9UNJ4	Missense_Mutation	SNP	ENST00000408911.3	37	c.835A>G	CCDS41468.1	.	.	.	.	.	.	.	.	.	.	T	13.02	2.112506	0.37242	.	.	ENSG00000196482	ENST00000361525;ENST00000366940;ENST00000366937;ENST00000408911;ENST00000359162;ENST00000361395;ENST00000366938;ENST00000360012;ENST00000493603;ENST00000391890;ENST00000463665;ENST00000487276;ENST00000354407;ENST00000493748;ENST00000475275	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.96041	-3.89;-3.89;-3.89;-3.89;-3.89;-3.89;-3.89;-3.89;-3.89;-3.89;-3.89;-3.89;-3.89;-3.89	5.45	4.28	0.50868	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.092994	0.64402	D	0.000001	D	0.91553	0.7332	N	0.25094	0.71	0.43667	D	0.996096	B;B;B	0.20988	0.05;0.014;0.004	B;B;B	0.29942	0.109;0.015;0.015	D	0.87474	0.2416	10	0.72032	D	0.01	.	12.2552	0.54619	0.0:0.0:0.1423:0.8577	.	217;291;279	E9PGB7;F8W8J3;P62508	.;.;ERR3_HUMAN	V	256;256;291;279;256;256;256;256;256;263;217;256;256;256;256	ENSP00000355225:I256V;ENSP00000355907:I256V;ENSP00000355904:I291V;ENSP00000386171:I279V;ENSP00000352077:I256V;ENSP00000354584:I256V;ENSP00000355905:I256V;ENSP00000353108:I256V;ENSP00000419594:I256V;ENSP00000375761:I263V;ENSP00000418629:I217V;ENSP00000419155:I256V;ENSP00000417374:I256V;ENSP00000419514:I256V	ENSP00000346386:I256V	I	-	1	0	ESRRG	214804211	1.000000	0.71417	0.985000	0.45067	0.982000	0.71751	8.040000	0.89188	0.844000	0.35094	0.528000	0.53228	ATC		PASS	0.443	ESRRG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089882.2	NM_206595		15	58	15	58	---	---	---	---
SIPA1L2	57568	broad.mit.edu	37	1	232649736	232649736	+	Silent	SNP	G	G	A			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr1:232649736G>A	ENST00000366630.1	-	2	1708	c.1350C>T	c.(1348-1350)tgC>tgT	p.C450C	SIPA1L2_ENST00000262861.4_Silent_p.C450C			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	450					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)	p.C450C(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CTGCATTTGTGCAGTGAGAGC	0.527																																						uc001hvg.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6						c.(1348-1350)TGC>TGT		signal-induced proliferation-associated 1 like							147.0	145.0	146.0					1																	232649736		1987	4166	6153	SO:0001819	synonymous_variant	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232649736G>A	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.1350C>T	1.37:g.232649736G>A							p.C450C	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN			1	1508	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	450					Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Silent	SNP	ENST00000366630.1	37	c.1350C>T	CCDS41474.1																																																																																				PASS	0.527	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		33	224	33	224	---	---	---	---
HEATR1	55127	broad.mit.edu	37	1	236736089	236736089	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr1:236736089G>C	ENST00000366582.3	-	25	3613	c.3499C>G	c.(3499-3501)Cca>Gca	p.P1167A	HEATR1_ENST00000366581.2_Missense_Mutation_p.P1086A	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1167					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)	p.P1167A(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TTATCTGGTGGCTCCAGTTCT	0.383																																						uc001hyd.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(3499-3501)CCA>GCA		protein BAP28							322.0	296.0	305.0					1																	236736089		2203	4300	6503	SO:0001583	missense	55127				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	g.chr1:236736089G>C	BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"""UTP10, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.3499C>G	1.37:g.236736089G>C	ENSP00000355541:p.Pro1167Ala					HEATR1_uc009xgh.1_Missense_Mutation_p.P329A	p.P1167A	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		25	3624	-	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	1167					Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	ENST00000366582.3	37	c.3499C>G	CCDS31066.1	.	.	.	.	.	.	.	.	.	.	G	17.66	3.443363	0.63067	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.27890	1.64;1.64	5.37	5.37	0.77165	Armadillo-type fold (1);	0.107337	0.64402	D	0.000004	T	0.34513	0.0900	M	0.61703	1.905	0.80722	D	1	B;P	0.47762	0.048;0.9	B;B	0.41036	0.014;0.346	T	0.12243	-1.0555	10	0.20519	T	0.43	.	19.118	0.93350	0.0:0.0:1.0:0.0	.	1086;1167	Q5T3Q7;Q9H583	.;HEAT1_HUMAN	A	1167;1086	ENSP00000355541:P1167A;ENSP00000355540:P1086A	ENSP00000355540:P1086A	P	-	1	0	HEATR1	234802712	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.263000	0.72521	2.522000	0.85027	0.655000	0.94253	CCA		PASS	0.383	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853		40	346	40	346	---	---	---	---
ACTN2	88	broad.mit.edu	37	1	236889288	236889288	+	Silent	SNP	T	T	C			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr1:236889288T>C	ENST00000366578.4	+	5	670	c.504T>C	c.(502-504)taT>taC	p.Y168Y	ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000542672.1_Silent_p.Y168Y	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	168	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)	p.Y168Y(1)		endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			CTGCTCCTTATAGAAATGTGA	0.483																																						uc001hyf.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(1)	5						c.(502-504)TAT>TAC		actinin, alpha 2							126.0	131.0	129.0					1																	236889288		2203	4300	6503	SO:0001819	synonymous_variant	88				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	g.chr1:236889288T>C	BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"""EF-hand domain containing"""	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.504T>C	1.37:g.236889288T>C						ACTN2_uc001hyg.2_5'UTR|ACTN2_uc009xgi.1_Silent_p.Y168Y	p.Y168Y	NM_001103	NP_001094	P35609	ACTN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00168)		5	708	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	168			CH 2.|Actin-binding.		B1ANE4|B2RCS5|Q86TF4|Q86TI8	Silent	SNP	ENST00000366578.4	37	c.504T>C	CCDS1613.1																																																																																				PASS	0.483	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1	NM_001103		25	179	25	179	---	---	---	---
KIF26B	55083	broad.mit.edu	37	1	245850124	245850124	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr1:245850124C>G	ENST00000407071.2	+	12	4279	c.3839C>G	c.(3838-3840)tCc>tGc	p.S1280C	KIF26B_ENST00000366518.4_Missense_Mutation_p.S899C	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1280					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.S1280C(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			TCCATCAGCTCCTGGCTGAGC	0.612																																						uc001ibf.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(3838-3840)TCC>TGC		kinesin family member 26B							34.0	41.0	38.0					1																	245850124		2140	4231	6371	SO:0001583	missense	55083				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:245850124C>G	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.3839C>G	1.37:g.245850124C>G	ENSP00000385545:p.Ser1280Cys					KIF26B_uc001ibg.1_Missense_Mutation_p.S898C|KIF26B_uc001ibh.1_Missense_Mutation_p.S522C	p.S1280C	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.022)		12	4279	+	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		1280					Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	ENST00000407071.2	37	c.3839C>G	CCDS44342.1	.	.	.	.	.	.	.	.	.	.	C	17.08	3.298644	0.60195	.	.	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	D;D	0.87809	-2.3;-2.29	5.92	5.02	0.67125	.	.	.	.	.	D	0.93556	0.7943	M	0.83012	2.62	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.972	D	0.94425	0.7644	9	0.87932	D	0	.	15.0625	0.71967	0.0:0.9322:0.0:0.0678	.	899;1280	B7WPD9;Q2KJY2	.;KI26B_HUMAN	C	1280;899;896	ENSP00000385545:S1280C;ENSP00000355475:S899C	ENSP00000355475:S899C	S	+	2	0	KIF26B	243916747	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.807000	0.86032	1.525000	0.49052	0.561000	0.74099	TCC		PASS	0.612	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354		4	35	4	35	---	---	---	---
OR11L1	391189	broad.mit.edu	37	1	248005145	248005145	+	Silent	SNP	C	C	T	rs369061630		TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr1:248005145C>T	ENST00000355784.2	-	1	109	c.54G>A	c.(52-54)caG>caA	p.Q18Q		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	18						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q18Q(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CAAGAAGGTTCTGGAATCCTA	0.483																																						uc001idn.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(52-54)CAG>CAA		olfactory receptor, family 11, subfamily L,		C		2,4404	4.2+/-10.8	0,2,2201	67.0	61.0	63.0		54	3.3	0.7	1		63	0,8600		0,0,4300	no	coding-synonymous	OR11L1	NM_001001959.1		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		18/323	248005145	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	391189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248005145C>T	AB065646	CCDS31098.1	1q44	2013-09-24			ENSG00000197591	ENSG00000197591		"""GPCR / Class A : Olfactory receptors"""	14998	protein-coding gene	gene with protein product							Standard	NM_001001959		Approved		uc001idn.1	Q8NGX0	OTTHUMG00000040193	ENST00000355784.2:c.54G>A	1.37:g.248005145C>T							p.Q18Q	NM_001001959	NP_001001959	Q8NGX0	O11L1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		1	54	-	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		18			Extracellular (Potential).			Silent	SNP	ENST00000355784.2	37	c.54G>A	CCDS31098.1																																																																																				PASS	0.483	OR11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096850.1	NM_001001959		8	61	8	61	---	---	---	---
HEATR5B	54497	broad.mit.edu	37	2	37259800	37259800	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr2:37259800A>T	ENST00000233099.5	-	22	3428	c.3333T>A	c.(3331-3333)aaT>aaA	p.N1111K	HEATR5B_ENST00000354531.2_Missense_Mutation_p.N1111K	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1111						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)		p.N1111K(1)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				TGTCCCCTGTATTTTTTGCCA	0.388																																						uc002rpp.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(2)|breast(1)	8						c.(3331-3333)AAT>AAA		HEAT repeat containing 5B							144.0	136.0	139.0					2																	37259800		2203	4300	6503	SO:0001583	missense	54497						binding	g.chr2:37259800A>T	AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.3333T>A	2.37:g.37259800A>T	ENSP00000233099:p.Asn1111Lys						p.N1111K	NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN			22	3429	-		all_hematologic(82;0.21)	1111					B5MDU8|Q7Z3B2|Q9NVL7	Missense_Mutation	SNP	ENST00000233099.5	37	c.3333T>A	CCDS33181.1	.	.	.	.	.	.	.	.	.	.	A	12.99	2.103081	0.37145	.	.	ENSG00000008869	ENST00000233099;ENST00000354531	T;T	0.64991	-0.13;-0.13	5.08	1.47	0.22746	Armadillo-like helical (1);Armadillo-type fold (1);	0.207160	0.50627	D	0.000104	T	0.44644	0.1303	L	0.29908	0.895	0.32824	D	0.503092	B	0.13145	0.007	B	0.16289	0.015	T	0.43909	-0.9362	10	0.25751	T	0.34	-7.8672	9.1234	0.36801	0.7074:0.0:0.2926:0.0	.	1111	Q9P2D3	HTR5B_HUMAN	K	1111	ENSP00000233099:N1111K;ENSP00000346531:N1111K	ENSP00000233099:N1111K	N	-	3	2	HEATR5B	37113304	0.798000	0.28890	0.825000	0.32803	0.918000	0.54935	0.081000	0.14823	0.283000	0.22279	0.455000	0.32223	AAT		PASS	0.388	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		19	89	19	89	---	---	---	---
DHX57	90957	broad.mit.edu	37	2	39025486	39025486	+	Silent	SNP	T	T	G			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr2:39025486T>G	ENST00000295373.6	-	24	4242	c.4116A>C	c.(4114-4116)ggA>ggC	p.G1372G		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	1372							ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.G1372G(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				TGATCCGGGATCCTCGAGGAC	0.453																																					Melanoma(191;1090 2095 4375 23729 47341)	uc002rrf.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|lung(1)|skin(1)	3						c.(4114-4116)GGA>GGC		DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57							185.0	169.0	174.0					2																	39025486		2203	4300	6503	SO:0001819	synonymous_variant	90957						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr2:39025486T>G	AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"""DEAH-boxes"""	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.4116A>C	2.37:g.39025486T>G						DHX57_uc002rrd.3_Silent_p.G711G|DHX57_uc002rre.2_Silent_p.G805G	p.G1372G	NM_198963	NP_945314	Q6P158	DHX57_HUMAN			24	4215	-		all_hematologic(82;0.248)	1372					A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	Silent	SNP	ENST00000295373.6	37	c.4116A>C	CCDS1800.1	.	.	.	.	.	.	.	.	.	.	T	9.359	1.067584	0.20067	.	.	ENSG00000163214	ENST00000452978	.	.	.	5.42	-10.8	0.00216	.	.	.	.	.	T	0.50326	0.1609	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63607	-0.6599	4	.	.	.	.	12.0895	0.53717	0.0:0.4299:0.3889:0.1811	.	.	.	.	L	651	.	.	I	-	1	0	DHX57	38878990	0.000000	0.05858	0.304000	0.25085	0.937000	0.57800	-2.518000	0.00953	-1.596000	0.01611	-0.256000	0.11100	ATC		PASS	0.453	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219940.2	NM_145646		6	134	6	134	---	---	---	---
CHAC2	494143	broad.mit.edu	37	2	54001452	54001452	+	Silent	SNP	T	T	C			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr2:54001452T>C	ENST00000295304.4	+	3	440	c.345T>C	c.(343-345)aaT>aaC	p.N115N	GPR75-ASB3_ENST00000352846.3_Intron|GPR75-ASB3_ENST00000263634.3_Intron|GPR75-ASB3_ENST00000406687.1_Intron|GPR75-ASB3_ENST00000394717.2_Intron|ASB3_ENST00000498475.2_Intron|ASB3_ENST00000406625.2_Intron	NM_001008708.2	NP_001008708.1	Q8WUX2	CHAC2_HUMAN	ChaC, cation transport regulator homolog 2 (E. coli)	115								p.N115N(1)		endometrium(1)|large_intestine(2)|lung(4)|prostate(1)	8			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			CATGTGATAATCCTGATTATC	0.368																																						uc002rxk.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(343-345)AAT>AAC		ChaC, cation transport regulator-like 2							146.0	141.0	143.0					2																	54001452		2203	4300	6503	SO:0001819	synonymous_variant	494143							g.chr2:54001452T>C	BC025376	CCDS33196.1	2p16	2013-09-12	2006-09-12		ENSG00000143942	ENSG00000143942			32363	protein-coding gene	gene with protein product	"""gamma-GCT acting on glutathione homolog 2"""		"""ChaC, cation transport regulator-like 2 (E. coli)"""			23070364	Standard	NM_001008708		Approved		uc002rxk.1	Q8WUX2	OTTHUMG00000151824	ENST00000295304.4:c.345T>C	2.37:g.54001452T>C						ASB3_uc002rxg.1_Intron|ASB3_uc002rxh.1_Intron|ASB3_uc002rxi.3_Intron|ASB3_uc010yoo.1_Intron	p.N115N	NM_001008708	NP_001008708	Q8WUX2	CHAC2_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		3	440	+			115					Q8WVI8	Silent	SNP	ENST00000295304.4	37	c.345T>C	CCDS33196.1																																																																																				PASS	0.368	CHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324072.1	NM_001008708		5	127	5	127	---	---	---	---
LRRTM1	347730	broad.mit.edu	37	2	80530036	80530036	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr2:80530036C>G	ENST00000295057.3	-	2	1565	c.909G>C	c.(907-909)tgG>tgC	p.W303C	CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000402739.4_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.W303C|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000540488.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	303					exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.W303C(2)		NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						TCAGGGACTTCCAAGAGTTGA	0.627										HNSCC(69;0.2)																												uc002sok.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						c.(907-909)TGG>TGC		leucine rich repeat transmembrane neuronal 1							53.0	52.0	53.0					2																	80530036		2203	4300	6503	SO:0001583	missense	347730					axon|endoplasmic reticulum membrane|growth cone|integral to membrane		g.chr2:80530036C>G	AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.909G>C	2.37:g.80530036C>G	ENSP00000295057:p.Trp303Cys	HNSCC(69;0.2)				CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	p.W303C	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN			2	1179	-			303			Lumenal (Potential).		A8K397|D6W5K1|Q96DN1	Missense_Mutation	SNP	ENST00000295057.3	37	c.909G>C	CCDS1966.1	.	.	.	.	.	.	.	.	.	.	C	15.12	2.739980	0.49045	.	.	ENSG00000162951	ENST00000295057;ENST00000409148	T;T	0.55760	0.5;0.5	5.26	5.26	0.73747	.	0.000000	0.85682	U	0.000000	T	0.54870	0.1885	N	0.11364	0.135	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	T	0.57510	-0.7799	9	.	.	.	.	18.8459	0.92205	0.0:1.0:0.0:0.0	.	303	Q86UE6	LRRT1_HUMAN	C	303	ENSP00000295057:W303C;ENSP00000386646:W303C	.	W	-	3	0	LRRTM1	80383547	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	5.989000	0.70587	2.416000	0.81992	0.655000	0.94253	TGG		PASS	0.627	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	NM_178839		12	46	12	46	---	---	---	---
CTNNA2	1496	broad.mit.edu	37	2	80874960	80874960	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr2:80874960A>T	ENST00000402739.4	+	18	2830	c.2825A>T	c.(2824-2826)cAg>cTg	p.Q942L	CTNNA2_ENST00000496558.1_Missense_Mutation_p.Q894L|CTNNA2_ENST00000466387.1_Missense_Mutation_p.Q894L|CTNNA2_ENST00000541047.1_Missense_Mutation_p.Q894L|CTNNA2_ENST00000361291.4_Missense_Mutation_p.Q928L|CTNNA2_ENST00000343114.3_Missense_Mutation_p.Q573L|CTNNA2_ENST00000540488.1_Missense_Mutation_p.Q849L	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	942					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)	p.Q894L(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						TCGCCTGTACAGGCTTTAAGT	0.388																																						uc010ysh.1																			1	Substitution - Missense(1)		lung(1)	pancreas(4)|lung(3)|breast(1)|skin(1)	9						c.(2824-2826)CAG>CTG		catenin, alpha 2 isoform 1							101.0	100.0	100.0					2																	80874960		1826	4077	5903	SO:0001583	missense	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80874960A>T		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.2825A>T	2.37:g.80874960A>T	ENSP00000384638:p.Gln942Leu					CTNNA2_uc010yse.1_Missense_Mutation_p.Q894L|CTNNA2_uc010ysf.1_Missense_Mutation_p.Q894L|CTNNA2_uc010ysg.1_Missense_Mutation_p.Q849L|CTNNA2_uc010ysi.1_Missense_Mutation_p.Q526L|CTNNA2_uc010ysj.1_Missense_Mutation_p.Q223L	p.Q942L	NM_004389	NP_004380	P26232	CTNA2_HUMAN			18	2830	+			942					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37	c.2825A>T		.	.	.	.	.	.	.	.	.	.	A	22.9	4.347323	0.82022	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488;ENST00000343114	T;T;T;T;T;T;T	0.42131	1.09;1.09;1.07;0.98;1.09;1.0;2.33	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.59972	0.2233	L	0.59436	1.845	0.58432	D	0.999997	P;D;D;D	0.63046	0.837;0.972;0.992;0.992	P;P;D;D	0.65874	0.559;0.776;0.939;0.939	T	0.57894	-0.7732	9	.	.	.	.	16.3998	0.83635	1.0:0.0:0.0:0.0	.	526;942;849;894	F6KRI5;P26232;P26232-3;P26232-2	.;CTNA2_HUMAN;.;.	L	894;894;928;942;894;849;573	ENSP00000418191:Q894L;ENSP00000419295:Q894L;ENSP00000355398:Q928L;ENSP00000384638:Q942L;ENSP00000444675:Q894L;ENSP00000441705:Q849L;ENSP00000341500:Q573L	.	Q	+	2	0	CTNNA2	80728471	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.275000	0.75901	0.528000	0.53228	CAG		PASS	0.388	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		38	149	38	149	---	---	---	---
SMYD1	150572	broad.mit.edu	37	2	88396294	88396294	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr2:88396294C>G	ENST00000419482.2	+	6	964	c.879C>G	c.(877-879)gaC>gaG	p.D293E	SMYD1_ENST00000444564.2_Missense_Mutation_p.D280E|SMYD1_ENST00000438570.1_Intron	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	293					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myotube differentiation (GO:0010831)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)	p.D293E(1)		NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						GGGTGAAAGACAACCCCAAGG	0.527																																						uc002ssr.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|skin(1)	4						c.(877-879)GAC>GAG		SET and MYND domain containing 1							72.0	69.0	70.0					2																	88396294		2203	4300	6503	SO:0001583	missense	150572				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr2:88396294C>G	AF086123	CCDS33240.1	2p11.1	2011-07-01			ENSG00000115593	ENSG00000115593		"""Zinc fingers, MYND-type"", ""Chromatin-modifying enzymes / K-methyltransferases"""	20986	protein-coding gene	gene with protein product		606846				11923873	Standard	NM_198274		Approved	BOP, ZMYND22, KMT3D	uc002ssr.3	Q8NB12	OTTHUMG00000155045	ENST00000419482.2:c.879C>G	2.37:g.88396294C>G	ENSP00000393453:p.Asp293Glu					SMYD1_uc002ssq.1_Intron|SMYD1_uc002sss.2_5'UTR	p.D293E	NM_198274	NP_938015	Q8NB12	SMYD1_HUMAN			6	881	+			293					A0AV30|A6NE13	Missense_Mutation	SNP	ENST00000419482.2	37	c.879C>G	CCDS33240.1	.	.	.	.	.	.	.	.	.	.	C	2.211	-0.380575	0.05000	.	.	ENSG00000115593	ENST00000419482;ENST00000444564;ENST00000295833	T;T	0.21734	2.02;1.99	5.42	-6.81	0.01704	.	0.276189	0.38164	N	0.001787	T	0.07863	0.0197	L	0.35723	1.085	0.30589	N	0.761709	B	0.06786	0.001	B	0.08055	0.003	T	0.46775	-0.9167	10	0.02654	T	1	-16.1906	2.9553	0.05875	0.0941:0.2425:0.2067:0.4567	.	293	Q8NB12	SMYD1_HUMAN	E	293;280;114	ENSP00000393453:D293E;ENSP00000407888:D280E	ENSP00000295833:D114E	D	+	3	2	SMYD1	88177409	0.000000	0.05858	0.166000	0.22797	0.314000	0.28054	-2.464000	0.00996	-1.084000	0.03092	0.561000	0.74099	GAC		PASS	0.527	SMYD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338229.2	XM_097915		9	57	9	57	---	---	---	---
TRIM43	129868	broad.mit.edu	37	2	96260870	96260870	+	Missense_Mutation	SNP	G	G	A	rs201221399		TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr2:96260870G>A	ENST00000272395.2	+	3	620	c.484G>A	c.(484-486)Gga>Aga	p.G162R		NM_001164464.1|NM_138800.1	NP_001157936.1|NP_620155.1	Q96BQ3	TRI43_HUMAN	tripartite motif containing 43	162						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.G162R(2)		breast(1)|large_intestine(3)|lung(7)|ovary(1)	12						ATATGAGGAGGGAAGAACAGC	0.398																																						uc002suv.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(484-486)GGA>AGA		tripartite motif-containing 43							71.0	67.0	68.0					2																	96260870		2203	4300	6503	SO:0001583	missense	129868					intracellular	zinc ion binding	g.chr2:96260870G>A	BK000505	CCDS2015.1	2q11	2014-02-17	2011-01-25		ENSG00000144015	ENSG00000144015		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19015	protein-coding gene	gene with protein product			"""tripartite motif-containing 43"""				Standard	NM_138800		Approved	TRIM43A	uc002suv.3	Q96BQ3	OTTHUMG00000130401	ENST00000272395.2:c.484G>A	2.37:g.96260870G>A	ENSP00000272395:p.Gly162Arg						p.G162R	NM_138800	NP_620155	Q96BQ3	TRI43_HUMAN			3	620	+			162					Q53TJ7	Missense_Mutation	SNP	ENST00000272395.2	37	c.484G>A	CCDS2015.1	.	.	.	.	.	.	.	.	.	.	.	0.011	-1.704919	0.00719	.	.	ENSG00000144015	ENST00000272395	T	0.04603	3.59	0.911	-1.82	0.07857	.	.	.	.	.	T	0.01730	0.0055	N	0.04297	-0.235	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.40421	-0.9564	9	0.08381	T	0.77	5.3819	2.9369	0.05817	0.51:0.0:0.285:0.205	.	162	Q96BQ3	TRI43_HUMAN	R	162	ENSP00000272395:G162R	ENSP00000272395:G162R	G	+	1	0	TRIM43	95624597	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.758000	0.01810	-2.941000	0.00297	-2.114000	0.00352	GGA		PASS	0.398	TRIM43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252784.1	NM_138800		5	50	5	50	---	---	---	---
SMPD4	55627	broad.mit.edu	37	2	130929950	130929950	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr2:130929950C>T	ENST00000409031.1	-	8	1896	c.748G>A	c.(748-750)Ggg>Agg	p.G250R	SMPD4_ENST00000431183.2_Missense_Mutation_p.G177R|SMPD4_ENST00000351288.6_Missense_Mutation_p.G250R|SMPD4_ENST00000473720.1_Intron|SMPD4_ENST00000339679.7_Missense_Mutation_p.G137R|SMPD4_ENST00000452225.2_Intron|SMPD4_ENST00000453750.1_Intron|SMPD4_ENST00000426662.2_Intron|SMPD4_ENST00000443958.2_Intron	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	211					cellular response to tumor necrosis factor (GO:0071356)|ceramide biosynthetic process (GO:0046513)|glycerophospholipid catabolic process (GO:0046475)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)|sphingomyelin phosphodiesterase D activity (GO:0050290)	p.G250R(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	CTGGTCCCCCCTGGGCTGGAG	0.617																																						uc002tqq.1																			1	Substitution - Missense(1)		lung(1)		0						c.(748-750)GGG>AGG		sphingomyelin phosphodiesterase 4 isoform 2	Phosphatidylserine(DB00144)						38.0	36.0	37.0					2																	130929950		2203	4300	6503	SO:0001583	missense	55627				sphingomyelin catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity	g.chr2:130929950C>T	AF052134	CCDS2156.2, CCDS42751.1, CCDS54398.1	2q21.1	2009-11-06			ENSG00000136699	ENSG00000136699			32949	protein-coding gene	gene with protein product		610457				16517606	Standard	NM_001171083		Approved	FLJ20297, FLJ20756, nSMase-3, KIAA1418, NSMASE3, NET13	uc002tqr.2	Q9NXE4	OTTHUMG00000131624	ENST00000409031.1:c.748G>A	2.37:g.130929950C>T	ENSP00000386531:p.Gly250Arg					SMPD4_uc002tqp.1_5'UTR|SMPD4_uc010yzy.1_Intron|SMPD4_uc010yzz.1_Intron|SMPD4_uc002tqr.1_Missense_Mutation_p.G250R|SMPD4_uc002tqs.1_Missense_Mutation_p.G118R|SMPD4_uc002tqt.1_Missense_Mutation_p.G128R|SMPD4_uc010zaa.1_Missense_Mutation_p.G137R|SMPD4_uc010zab.1_Missense_Mutation_p.G177R|SMPD4_uc010zac.1_Intron|SMPD4_uc010zad.1_Intron	p.G250R	NM_017951	NP_060421	Q9NXE4	NSMA3_HUMAN			8	1268	-	Colorectal(110;0.1)		211					B4DM23|B4DQ31|B4DRB8|B4DWK7|B4E0L6|E7ESA2|E9PCE6|Q6FI76|Q6P1P7|Q6ZT43|Q9H0M2|Q9NW20|Q9NWL2|Q9P2C9	Missense_Mutation	SNP	ENST00000409031.1	37	c.748G>A	CCDS42751.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	8.383|8.383	0.837954|0.837954	0.16891|0.16891	.|.	.|.	ENSG00000136699|ENSG00000136699	ENST00000351288;ENST00000409031;ENST00000431183;ENST00000339679;ENST00000451542|ENST00000430682	.|.	.|.	.|.	3.18|3.18	3.18|3.18	0.36537|0.36537	.|.	0.173402|.	0.50627|.	D|.	0.000102|.	T|T	0.39682|0.39682	0.1087|0.1087	N|N	0.12961|0.12961	0.28|0.28	0.80722|0.80722	D|D	1|1	D;D;P;B;B|.	0.76494|.	0.999;0.999;0.703;0.016;0.025|.	D;D;B;B;B|.	0.76575|.	0.988;0.987;0.203;0.027;0.027|.	T|T	0.19063|0.19063	-1.0317|-1.0317	9|5	0.13853|.	T|.	0.58|.	.|.	12.2057|12.2057	0.54350|0.54350	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	177;137;211;211;250|.	E7ESA2;B4E0T5;Q9NXE4-2;Q9NXE4;B1PBA3|.	.;.;.;NSMA3_HUMAN;.|.	R|K	250;250;177;137;27|39	.|.	ENSP00000339721:G137R|.	G|R	-|-	1|2	0|0	SMPD4|SMPD4	130646420|130646420	1.000000|1.000000	0.71417|0.71417	0.086000|0.086000	0.20670|0.20670	0.371000|0.371000	0.29859|0.29859	5.036000|5.036000	0.64164|0.64164	1.793000|1.793000	0.52555|0.52555	0.455000|0.455000	0.32223|0.32223	GGG|AGG		PASS	0.617	SMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254516.3	NM_017751		14	58	14	58	---	---	---	---
LCT	3938	broad.mit.edu	37	2	136566975	136566975	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr2:136566975G>T	ENST00000264162.2	-	8	2952	c.2942C>A	c.(2941-2943)tCt>tAt	p.S981Y	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	981	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)	p.S981Y(1)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	GAAAATCCGAGACCAGGAGAT	0.498																																						uc002tuu.1																			1	Substitution - Missense(1)		lung(1)	ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1)	13						c.(2941-2943)TCT>TAT		lactase-phlorizin hydrolase preproprotein							76.0	81.0	79.0					2																	136566975		2203	4300	6503	SO:0001583	missense	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136566975G>T	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.2942C>A	2.37:g.136566975G>T	ENSP00000264162:p.Ser981Tyr						p.S981Y	NM_002299	NP_002290	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	8	2953	-			981			3.|Extracellular (Potential).|4 X approximate repeats.		Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	c.2942C>A	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.309829	0.81247	.	.	ENSG00000115850	ENST00000264162;ENST00000455227	T	0.38401	1.14	5.78	5.78	0.91487	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.335796	0.40554	N	0.001066	T	0.73345	0.3575	H	0.95816	3.725	0.53688	D	0.999977	D	0.76494	0.999	D	0.76575	0.988	T	0.80883	-0.1183	10	0.66056	D	0.02	-7.5123	20.0139	0.97470	0.0:0.0:1.0:0.0	.	981	P09848	LPH_HUMAN	Y	981;413	ENSP00000264162:S981Y	ENSP00000264162:S981Y	S	-	2	0	LCT	136283445	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.869000	0.99810	2.724000	0.93272	0.563000	0.77884	TCT		PASS	0.498	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		16	101	16	101	---	---	---	---
GALNT13	114805	broad.mit.edu	37	2	155098562	155098562	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr2:155098562C>G	ENST00000392825.3	+	5	898	c.331C>G	c.(331-333)Cct>Gct	p.P111A	GALNT13_ENST00000409237.1_Missense_Mutation_p.P111A	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	polypeptide N-acetylgalactosaminyltransferase 13	111					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.P111A(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						AAAAGTCTACCCTGATGAACT	0.328																																						uc002tyr.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6						c.(331-333)CCT>GCT		UDP-N-acetyl-alpha-D-galactosamine:polypeptide							85.0	80.0	82.0					2																	155098562		2203	4300	6503	SO:0001583	missense	114805					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:155098562C>G	AB067505	CCDS2199.1	2q24.1	2014-03-13	2014-03-13		ENSG00000144278	ENSG00000144278	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	23242	protein-coding gene	gene with protein product	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13"", ""polypeptide GalNAc transferase 13"""	608369	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)"""			11572484, 12407114	Standard	XM_005246267		Approved	KIAA1918, GalNAc-T13	uc002tyr.4	Q8IUC8	OTTHUMG00000131917	ENST00000392825.3:c.331C>G	2.37:g.155098562C>G	ENSP00000376570:p.Pro111Ala					GALNT13_uc002tyt.3_Missense_Mutation_p.P111A|GALNT13_uc010foc.1_5'UTR	p.P111A	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN			5	898	+			111			Lumenal (Potential).		Q08ER7|Q68VI8|Q6ZWG1|Q96PX0|Q9UIE5	Missense_Mutation	SNP	ENST00000392825.3	37	c.331C>G	CCDS2199.1	.	.	.	.	.	.	.	.	.	.	C	11.96	1.795342	0.31777	.	.	ENSG00000144278	ENST00000392825;ENST00000409237	T;T	0.60040	0.22;0.22	5.56	4.67	0.58626	.	0.161231	0.56097	N	0.000030	T	0.51193	0.1660	L	0.60067	1.865	0.58432	D	0.99999	B;B	0.10296	0.003;0.0	B;B	0.13407	0.009;0.0	T	0.48692	-0.9013	10	0.07813	T	0.8	.	15.1416	0.72615	0.0:0.8577:0.1423:0.0	.	111;111	Q08ER7;Q8IUC8	.;GLT13_HUMAN	A	111	ENSP00000376570:P111A;ENSP00000387239:P111A	ENSP00000376570:P111A	P	+	1	0	GALNT13	154806808	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.715000	0.47210	1.327000	0.45338	0.579000	0.79373	CCT		PASS	0.328	GALNT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254870.2	NM_052917		5	56	5	56	---	---	---	---
KCNJ3	3760	broad.mit.edu	37	2	155711690	155711690	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr2:155711690G>T	ENST00000295101.2	+	3	1848	c.1371G>T	c.(1369-1371)aaG>aaT	p.K457N		NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	KCNJ3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	457					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|response to electrical stimulus (GO:0051602)|synaptic transmission (GO:0007268)	external side of plasma membrane (GO:0009897)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)	p.K457N(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	AAACCACCAAGATGTTATCTG	0.473																																						uc002tyv.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|pancreas(1)	2						c.(1369-1371)AAG>AAT		potassium inwardly-rectifying channel J3	Halothane(DB01159)						49.0	51.0	50.0					2																	155711690		2203	4300	6503	SO:0001583	missense	3760				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr2:155711690G>T	U50964	CCDS2200.1, CCDS58733.1	2q24.1	2011-07-05			ENSG00000162989	ENSG00000162989		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6264	protein-coding gene	gene with protein product		601534				8088798, 16382105	Standard	NM_002239		Approved	Kir3.1, GIRK1, KGA	uc002tyv.2	P48549	OTTHUMG00000131937	ENST00000295101.2:c.1371G>T	2.37:g.155711690G>T	ENSP00000295101:p.Lys457Asn					KCNJ3_uc010zce.1_3'UTR	p.K457N	NM_002239	NP_002230	P48549	IRK3_HUMAN			3	1566	+			457			Cytoplasmic (By similarity).		B4DEW7|Q8TBI0	Missense_Mutation	SNP	ENST00000295101.2	37	c.1371G>T	CCDS2200.1	.	.	.	.	.	.	.	.	.	.	G	14.80	2.642928	0.47153	.	.	ENSG00000162989	ENST00000295101	D	0.89552	-2.53	5.96	4.14	0.48551	.	0.327747	0.33272	N	0.005099	T	0.80808	0.4694	N	0.24115	0.695	0.80722	D	1	B	0.30482	0.281	B	0.27076	0.076	T	0.77792	-0.2455	10	0.87932	D	0	.	10.6955	0.45896	0.1547:0.0:0.8453:0.0	.	457	P48549	IRK3_HUMAN	N	457	ENSP00000295101:K457N	ENSP00000295101:K457N	K	+	3	2	KCNJ3	155419936	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.938000	0.63519	0.825000	0.34637	0.655000	0.94253	AAG		PASS	0.473	KCNJ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254890.2	NM_002239		4	74	4	74	---	---	---	---
RAPGEF4	11069	broad.mit.edu	37	2	173853511	173853511	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr2:173853511G>A	ENST00000397081.3	+	14	1461	c.1318G>A	c.(1318-1320)Gaa>Aaa	p.E440K	RAPGEF4_ENST00000264111.6_Missense_Mutation_p.E439K|RAPGEF4_ENST00000539331.1_Missense_Mutation_p.E287K|RAPGEF4_ENST00000473043.1_3'UTR|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.E269K|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.E296K|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.E287K|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.E440K|RAPGEF4_ENST00000535187.1_Missense_Mutation_p.E220K	NM_007023.3	NP_008954.2	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	440					blood coagulation (GO:0007596)|calcium ion-dependent exocytosis (GO:0017156)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|insulin secretion (GO:0030073)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of exocytosis (GO:0017157)|regulation of insulin secretion (GO:0050796)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)	p.E440K(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			CGTCTTACGAGAAGATAACTG	0.483																																						uc002uhv.3																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	6						c.(1318-1320)GAA>AAA		Rap guanine nucleotide exchange factor (GEF) 4							74.0	76.0	75.0					2																	173853511		1988	4171	6159	SO:0001583	missense	11069				blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity	g.chr2:173853511G>A	U78516	CCDS42775.1, CCDS42776.1, CCDS63060.1, CCDS63061.1, CCDS74604.1	2q31-q32	2008-02-05	2004-03-26		ENSG00000091428	ENSG00000091428			16626	protein-coding gene	gene with protein product	"""cAMP-regulated guanine nucleotide exchange factor II"", "" exchange protein directly activated by cAMP 2"""	606058	"""RAP guanine-nucleotide-exchange factor (GEF) 4"""			10777494, 9856955	Standard	NM_007023		Approved	cAMP-GEFII, CGEF2	uc002uhv.4	Q8WZA2	OTTHUMG00000133677	ENST00000397081.3:c.1318G>A	2.37:g.173853511G>A	ENSP00000380271:p.Glu440Lys					RAPGEF4_uc002uhw.3_Missense_Mutation_p.E296K|RAPGEF4_uc010zec.1_Missense_Mutation_p.E287K|RAPGEF4_uc010zed.1_Missense_Mutation_p.E269K|RAPGEF4_uc010zee.1_Missense_Mutation_p.E287K|RAPGEF4_uc010fqo.2_Missense_Mutation_p.E269K|RAPGEF4_uc010zef.1_Missense_Mutation_p.E220K|RAPGEF4_uc010zeg.1_Missense_Mutation_p.E267K|RAPGEF4_uc010fqp.1_Missense_Mutation_p.E220K|RAPGEF4_uc010zeh.1_Missense_Mutation_p.E220K	p.E440K	NM_007023	NP_008954	Q8WZA2	RPGF4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.194)		14	1505	+			440			cAMP 2.		B2R7R3|B7Z283|B7Z3T6|B7Z912|O95636|Q8IXK6|Q8TAA4	Missense_Mutation	SNP	ENST00000397081.3	37	c.1318G>A	CCDS42775.1	.	.	.	.	.	.	.	.	.	.	G	36	5.872939	0.97049	.	.	ENSG00000091428	ENST00000264111;ENST00000397081;ENST00000409036;ENST00000397087;ENST00000538974;ENST00000540783;ENST00000539331;ENST00000539767;ENST00000535187	D;D;D;D;D;D;D;D	0.85484	-1.99;-1.99;-1.99;-1.99;-1.99;-1.99;-1.99;-1.99	5.56	5.56	0.83823	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.90283	0.6961	L	0.42245	1.32	0.80722	D	1	D;D;D;D	0.89917	0.997;1.0;0.997;0.988	D;D;D;D	0.87578	0.972;0.998;0.919;0.951	D	0.90304	0.4332	10	0.62326	D	0.03	.	19.9052	0.97004	0.0:0.0:1.0:0.0	.	267;269;296;440	B7Z805;B7Z2R0;Q8WZA2-3;Q8WZA2	.;.;.;RPGF4_HUMAN	K	439;440;440;296;269;287;287;267;220	ENSP00000264111:E439K;ENSP00000380271:E440K;ENSP00000387104:E440K;ENSP00000380276:E296K;ENSP00000440135:E269K;ENSP00000440250:E287K;ENSP00000437384:E287K;ENSP00000438011:E220K	ENSP00000264111:E439K	E	+	1	0	RAPGEF4	173561757	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.420000	0.97426	2.776000	0.95493	0.655000	0.94253	GAA		PASS	0.483	RAPGEF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257864.2	NM_007023		17	77	17	77	---	---	---	---
NFE2L2	4780	broad.mit.edu	37	2	178098804	178098804	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr2:178098804C>T	ENST00000397062.3	-	2	795	c.241G>A	c.(241-243)Ggt>Agt	p.G81S	NFE2L2_ENST00000446151.2_Missense_Mutation_p.G65S|NFE2L2_ENST00000464747.1_Missense_Mutation_p.G65S|NFE2L2_ENST00000397063.4_Missense_Mutation_p.G65S|NFE2L2_ENST00000423513.1_Missense_Mutation_p.G65S	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	81					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G81S(2)|p.G81_F83delGEF(1)|p.G81C(1)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			AGAAATTCACCTGTCTCTTCA	0.438			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																												uc002ulh.3				Dom	yes		2	2q31	4780	Mis	nuclear factor (erythroid-derived 2)-like 2 (NRF2)			E			NSCLC|HNSCC		4	Substitution - Missense(3)|Deletion - In frame(1)		lung(2)|liver(1)|endometrium(1)	central_nervous_system(1)	1						c.(241-243)GGT>AGT		nuclear factor erythroid 2-like 2 isoform 1							143.0	142.0	142.0					2																	178098804		1901	4105	6006	SO:0001583	missense	4780				transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:178098804C>T		CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"""basic leucine zipper proteins"""	7782	protein-coding gene	gene with protein product	"""NF-E2-related factor 2"""	600492	"""nuclear factor (erythroid-derived 2)-like 2"""			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.241G>A	2.37:g.178098804C>T	ENSP00000380252:p.Gly81Ser	HNSCC(56;0.16)				NFE2L2_uc002ulg.3_Missense_Mutation_p.G65S|NFE2L2_uc010zfa.1_Missense_Mutation_p.G65S|NFE2L2_uc002uli.3_Missense_Mutation_p.G65S|NFE2L2_uc010fra.2_Missense_Mutation_p.G65S|NFE2L2_uc010frb.2_Missense_Mutation_p.G65S	p.G81S	NM_006164	NP_006155	Q16236	NF2L2_HUMAN	Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)		2	796	-			81					B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	ENST00000397062.3	37	c.241G>A	CCDS42782.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.4|20.4	3.986306|3.986306	0.74589|0.74589	.|.	.|.	ENSG00000116044|ENSG00000116044	ENST00000449627|ENST00000397063;ENST00000397062;ENST00000446151;ENST00000448782;ENST00000421929;ENST00000423513	T|T;T;T;T;T;T	0.29397|0.52057	1.57|1.22;1.22;1.22;0.68;0.68;1.22	5.78|5.78	5.78|5.78	0.91487|0.91487	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.75064|0.75064	0.3799|0.3799	M|M	0.87180|0.87180	2.865|2.865	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.97110	.|0.999;0.998;1.0;0.999	T|T	0.78275|0.78275	-0.2267|-0.2267	7|10	0.23891|0.72032	T|D	0.37|0.01	.|.	19.9976|19.9976	0.97389|0.97389	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|65;65;65;81	.|E9PGJ7;B4DNB0;C9JFL6;Q16236	.|.;.;.;NF2L2_HUMAN	T|S	65|65;81;65;65;65;65	ENSP00000391590:A65T|ENSP00000380253:G65S;ENSP00000380252:G81S;ENSP00000411575:G65S;ENSP00000400073:G65S;ENSP00000412191:G65S;ENSP00000410015:G65S	ENSP00000391590:A65T|ENSP00000380252:G81S	A|G	-|-	1|1	0|0	NFE2L2|NFE2L2	177807050|177807050	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.995000|0.995000	0.86356|0.86356	7.298000|7.298000	0.78815|0.78815	2.737000|2.737000	0.93849|0.93849	0.563000|0.563000	0.77884|0.77884	GCA|GGT		PASS	0.438	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257752.4	NM_006164		23	79	23	79	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179427766	179427766	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr2:179427766G>A	ENST00000591111.1	-	276	78394	c.78170C>T	c.(78169-78171)aCt>aTt	p.T26057I	TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T18758I|TTN_ENST00000342175.6_Missense_Mutation_p.T18825I|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T18633I|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.T27698I|TTN_ENST00000342992.6_Missense_Mutation_p.T25130I|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA			Q8WZ42	TITIN_HUMAN	titin	26057	Ig-like 126.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.T25128I(1)|p.T25130I(1)|p.T18825I(1)|p.T18633I(1)|p.T18758I(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCTTTGATAGTGACAAATAA	0.468																																						uc010zfg.1																			5	Substitution - Missense(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(75388-75390)ACT>ATT		titin isoform N2-A							160.0	156.0	157.0					2																	179427766		1937	4130	6067	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179427766G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.78170C>T	2.37:g.179427766G>A	ENSP00000465570:p.Thr26057Ile					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.T18825I|TTN_uc010zfi.1_Missense_Mutation_p.T18758I|TTN_uc010zfj.1_Missense_Mutation_p.T18633I	p.T25130I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	75613	-			26057					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.75389C>T		.	.	.	.	.	.	.	.	.	.	G	18.31	3.596024	0.66332	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39	6.04	5.15	0.70609	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.63010	0.2475	L	0.46741	1.465	0.58432	D	0.999991	B;B;B;B	0.21688	0.059;0.059;0.059;0.032	B;B;B;B	0.24541	0.054;0.054;0.054;0.037	T	0.62229	-0.6898	9	0.87932	D	0	.	15.7069	0.77592	0.066:0.0:0.934:0.0	.	18633;18758;18825;26057	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	25130;18633;18825;18758;18631	ENSP00000343764:T25130I;ENSP00000434586:T18633I;ENSP00000340554:T18825I;ENSP00000352154:T18758I	ENSP00000340554:T18825I	T	-	2	0	TTN	179136012	1.000000	0.71417	0.912000	0.35992	0.997000	0.91878	9.869000	0.99810	1.540000	0.49301	0.561000	0.74099	ACT		PASS	0.468	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		7	237	7	237	---	---	---	---
ASNSD1	54529	broad.mit.edu	37	2	190535246	190535246	+	Nonsense_Mutation	SNP	C	C	T	rs201596162		TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr2:190535246C>T	ENST00000260952.4	+	6	2139	c.1726C>T	c.(1726-1728)Cga>Tga	p.R576*	ASNSD1_ENST00000607062.1_Nonsense_Mutation_p.R95*	NM_019048.2	NP_061921	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	576	Asparagine synthetase.				asparagine biosynthetic process (GO:0006529)|glutamine metabolic process (GO:0006541)		asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)	p.R576*(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			GACTTTACCCCGAGGAATTGG	0.413													C|||	0	0.0	0.0	0.0	5008	,	,		14028	0.0		0.0	False		,,,				2504	0.0					uc002uqt.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1726-1728)CGA>TGA		asparagine synthetase domain containing 1							81.0	82.0	81.0					2																	190535246		2203	4300	6503	SO:0001587	stop_gained	54529				asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity	g.chr2:190535246C>T	AY116969	CCDS2300.1	2q32.2	2012-09-20			ENSG00000138381	ENSG00000138381			24910	protein-coding gene	gene with protein product							Standard	NM_019048		Approved	NS3TP1, FLJ20752, NBLA00058	uc002uqt.3	Q9NWL6	OTTHUMG00000132665	ENST00000260952.4:c.1726C>T	2.37:g.190535246C>T	ENSP00000260952:p.Arg576*						p.R576*	NM_019048	NP_061921	Q9NWL6	ASND1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)		6	2160	+			576			Asparagine synthetase.		D3DPH6|Q3LIC3|Q4ZG45	Nonsense_Mutation	SNP	ENST00000260952.4	37	c.1726C>T	CCDS2300.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	36	5.610982	0.96637	.	.	ENSG00000138381	ENST00000260952;ENST00000420250	.	.	.	5.76	3.97	0.46021	.	0.101108	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.7743	12.7382	0.57236	0.0:0.8661:0.0:0.1339	.	.	.	.	X	576	.	ENSP00000260952:R576X	R	+	1	2	ASNSD1	190243491	1.000000	0.71417	0.989000	0.46669	0.244000	0.25665	4.328000	0.59253	0.798000	0.33994	-0.291000	0.09656	CGA		PASS	0.413	ASNSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255919.3	NM_019048		19	88	19	88	---	---	---	---
WDFY1	57590	broad.mit.edu	37	2	224759044	224759044	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr2:224759044C>G	ENST00000233055.4	-	8	840	c.738G>C	c.(736-738)caG>caC	p.Q246H		NM_020830.3	NP_065881.1	Q8IWB7	WDFY1_HUMAN	WD repeat and FYVE domain containing 1	246						cytosol (GO:0005829)|early endosome (GO:0005769)|nucleus (GO:0005634)	1-phosphatidylinositol binding (GO:0005545)|zinc ion binding (GO:0008270)	p.Q246H(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)	18		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)		AGCACAGCGACTGCACCTTGT	0.502																																						uc002vnq.2																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(736-738)CAG>CAC		WD repeat and FYVE domain containing 1							159.0	118.0	132.0					2																	224759044		2203	4300	6503	SO:0001583	missense	57590					cytosol|early endosome|nucleus	1-phosphatidylinositol binding|zinc ion binding	g.chr2:224759044C>G	AB037856	CCDS33387.1	2q36.2	2013-01-09	2003-03-13		ENSG00000085449	ENSG00000085449		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20451	protein-coding gene	gene with protein product			"""WD40 and FYVE domain containing 1"""			11739631	Standard	NM_020830		Approved	KIAA1435, FENS-1, WDF1, ZFYVE17	uc002vnq.3	Q8IWB7	OTTHUMG00000153370	ENST00000233055.4:c.738G>C	2.37:g.224759044C>G	ENSP00000233055:p.Gln246His						p.Q246H	NM_020830	NP_065881	Q8IWB7	WDFY1_HUMAN		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)	8	789	-		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)	246			WD 6.		Q53S17|Q9H9D5|Q9P2B3	Missense_Mutation	SNP	ENST00000233055.4	37	c.738G>C	CCDS33387.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.147554	0.77888	.	.	ENSG00000085449	ENST00000233055;ENST00000429915	T;T	0.59906	0.23;1.59	5.73	4.86	0.63082	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.058685	0.64402	D	0.000001	T	0.58680	0.2139	N	0.17564	0.495	0.80722	D	1	D	0.67145	0.996	D	0.81914	0.995	T	0.54616	-0.8267	10	0.15952	T	0.53	-23.3805	14.2978	0.66327	0.0:0.9293:0.0:0.0707	.	246	Q8IWB7	WDFY1_HUMAN	H	246;203	ENSP00000233055:Q246H;ENSP00000395416:Q203H	ENSP00000233055:Q246H	Q	-	3	2	WDFY1	224467288	1.000000	0.71417	0.998000	0.56505	0.855000	0.48748	5.464000	0.66719	1.432000	0.47375	0.655000	0.94253	CAG		PASS	0.502	WDFY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330908.1	NM_020830		5	47	5	47	---	---	---	---
NR1D2	9975	broad.mit.edu	37	3	24001171	24001171	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr3:24001171C>G	ENST00000312521.4	+	4	701	c.382C>G	c.(382-384)Cgg>Ggg	p.R128G	NR1D2_ENST00000492552.1_3'UTR	NM_001145425.1|NM_005126.4	NP_001138897.1|NP_005117	Q14995	NR1D2_HUMAN	nuclear receptor subfamily 1, group D, member 2	128	Hinge.				gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|lipid homeostasis (GO:0055088)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of inflammatory response (GO:0050727)|regulation of lipid metabolic process (GO:0019216)|regulation of skeletal muscle cell differentiation (GO:2001014)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.R128G(1)		NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						GGGTTTCTTTCGGAGAAGTAT	0.353																																						uc003ccs.2																			1	Substitution - Missense(1)		lung(1)	urinary_tract(1)|kidney(1)|skin(1)	3						c.(382-384)CGG>GGG		nuclear receptor subfamily 1, group D, member 2							136.0	134.0	135.0					3																	24001171		2203	4300	6503	SO:0001583	missense	9975				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	g.chr3:24001171C>G	BC045613	CCDS33718.1	3p24.1	2013-01-16			ENSG00000174738	ENSG00000174738		"""Nuclear hormone receptors"""	7963	protein-coding gene	gene with protein product		602304				7997240, 10198169	Standard	NM_005126		Approved	BD73, RVR, EAR-1r, HZF2, Hs.37288	uc003ccs.2	Q14995	OTTHUMG00000155659	ENST00000312521.4:c.382C>G	3.37:g.24001171C>G	ENSP00000310006:p.Arg128Gly					NR1D2_uc010hfd.2_RNA|NR1D2_uc011awk.1_Missense_Mutation_p.R53G	p.R128G	NM_005126	NP_005117	Q14995	NR1D2_HUMAN			4	701	+			128			Nuclear receptor.		B2R8Q3|O00402|Q86XD4	Missense_Mutation	SNP	ENST00000312521.4	37	c.382C>G	CCDS33718.1	.	.	.	.	.	.	.	.	.	.	C	18.65	3.668747	0.67814	.	.	ENSG00000174738	ENST00000312521;ENST00000396676	D	0.97870	-4.58	5.85	4.91	0.64330	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);	0.000000	0.85682	D	0.000000	D	0.98991	0.9656	H	0.94771	3.58	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98939	1.0790	10	0.87932	D	0	.	13.6302	0.62191	0.2314:0.7686:0.0:0.0	.	128	Q14995	NR1D2_HUMAN	G	128	ENSP00000310006:R128G	ENSP00000310006:R128G	R	+	1	2	NR1D2	23976175	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	1.680000	0.37607	2.769000	0.95229	0.650000	0.86243	CGG		PASS	0.353	NR1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341017.3			5	73	5	73	---	---	---	---
EPM2AIP1	9852	broad.mit.edu	37	3	37033875	37033875	+	Nonsense_Mutation	SNP	G	G	A			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr3:37033875G>A	ENST00000322716.5	-	1	920	c.694C>T	c.(694-696)Cag>Tag	p.Q232*	MLH1_ENST00000435176.1_5'Flank|MLH1_ENST00000539477.1_5'Flank|MLH1_ENST00000536378.1_5'Flank|MLH1_ENST00000455445.2_5'Flank|MLH1_ENST00000458205.2_5'Flank|MLH1_ENST00000231790.2_5'Flank	NM_014805.3	NP_055620.1	Q7L775	EPMIP_HUMAN	EPM2A (laforin) interacting protein 1	232					positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of glycogen biosynthetic process (GO:0045725)|response to insulin (GO:0032868)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)		p.Q232*(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2)	27						CCTGCTGTCTGCAGGGACTCT	0.498																																						uc003cgk.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(694-696)CAG>TAG		EPM2A interacting protein 1							121.0	121.0	121.0					3																	37033875		1989	4171	6160	SO:0001587	stop_gained	9852					endoplasmic reticulum		g.chr3:37033875G>A	AB018309	CCDS46790.1	3p22.1	2003-03-26							19735	protein-coding gene	gene with protein product		607911					Standard	NM_014805		Approved	KIAA0766, FLJ11207	uc003cgk.3	Q7L775		ENST00000322716.5:c.694C>T	3.37:g.37033875G>A	ENSP00000406027:p.Gln232*					MLH1_uc011aye.1_5'Flank|MLH1_uc003cgl.2_5'Flank|MLH1_uc011ayb.1_5'Flank|MLH1_uc010hge.2_5'Flank|MLH1_uc003cgn.3_5'Flank|MLH1_uc011ayc.1_5'Flank|MLH1_uc011ayd.1_5'Flank|MLH1_uc003cgo.2_5'Flank	p.Q232*	NM_014805	NP_055620	Q7L775	EPMIP_HUMAN			1	921	-			232					O94866|Q9H3L3	Nonsense_Mutation	SNP	ENST00000322716.5	37	c.694C>T	CCDS46790.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.817412	0.90790	.	.	ENSG00000178567	ENST00000322716	.	.	.	5.0	4.09	0.47781	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	-1.3812	10.4621	0.44585	0.0:0.2135:0.7865:0.0	.	.	.	.	X	232	.	ENSP00000406027:Q232X	Q	-	1	0	EPM2AIP1	37008879	0.991000	0.36638	1.000000	0.80357	0.571000	0.35966	1.850000	0.39328	2.592000	0.87571	0.557000	0.71058	CAG		PASS	0.498	EPM2AIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000470593.1	NM_014805		5	195	5	195	---	---	---	---
CADPS	8618	broad.mit.edu	37	3	62570895	62570895	+	Silent	SNP	G	G	T			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr3:62570895G>T	ENST00000383710.4	-	8	1891	c.1542C>A	c.(1540-1542)gtC>gtA	p.V514V	CADPS_ENST00000357948.3_Silent_p.V514V|CADPS_ENST00000283269.9_Silent_p.V514V	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	514					catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)	p.V514V(2)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		TATCCATTCGGACAGCAAGTT	0.448																																						uc003dll.2																			2	Substitution - coding silent(2)		lung(2)	central_nervous_system(2)|ovary(1)	3						c.(1540-1542)GTC>GTA		Ca2+-dependent secretion activator isoform 1							196.0	185.0	189.0					3																	62570895		2203	4300	6503	SO:0001819	synonymous_variant	8618				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	g.chr3:62570895G>T	U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.1542C>A	3.37:g.62570895G>T						CADPS_uc003dlk.1_Silent_p.V18V|CADPS_uc003dlm.2_Silent_p.V514V|CADPS_uc003dln.2_Silent_p.V514V	p.V514V	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)	8	1902	-		Lung SC(41;0.0452)	514					A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Silent	SNP	ENST00000383710.4	37	c.1542C>A	CCDS46858.1																																																																																				PASS	0.448	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394		23	107	23	107	---	---	---	---
CADPS	8618	broad.mit.edu	37	3	62570972	62570972	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr3:62570972G>T	ENST00000383710.4	-	8	1814	c.1465C>A	c.(1465-1467)Ccc>Acc	p.P489T	CADPS_ENST00000357948.3_Missense_Mutation_p.P489T|CADPS_ENST00000283269.9_Missense_Mutation_p.P489T	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	489					catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)	p.P489T(2)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		GACTGTTTGGGGCTGTTCGGG	0.418																																						uc003dll.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)|ovary(1)	3						c.(1465-1467)CCC>ACC		Ca2+-dependent secretion activator isoform 1							169.0	169.0	169.0					3																	62570972		2203	4300	6503	SO:0001583	missense	8618				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	g.chr3:62570972G>T	U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.1465C>A	3.37:g.62570972G>T	ENSP00000373215:p.Pro489Thr					CADPS_uc003dlk.1_5'UTR|CADPS_uc003dlm.2_Missense_Mutation_p.P489T|CADPS_uc003dln.2_Missense_Mutation_p.P489T	p.P489T	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)	8	1825	-		Lung SC(41;0.0452)	489					A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	ENST00000383710.4	37	c.1465C>A	CCDS46858.1	.	.	.	.	.	.	.	.	.	.	G	16.23	3.064153	0.55432	.	.	ENSG00000163618	ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269	T;T;T	0.70869	-0.52;-0.52;-0.52	5.84	5.84	0.93424	C2 calcium-dependent membrane targeting (1);	0.057615	0.64402	D	0.000001	T	0.81621	0.4861	L	0.50333	1.59	0.80722	D	1	P;B;D	0.89917	0.721;0.093;1.0	P;B;D	0.83275	0.476;0.058;0.996	T	0.78206	-0.2294	10	0.36615	T	0.2	.	20.1434	0.98067	0.0:0.0:1.0:0.0	.	489;489;489	Q9ULU8-2;Q9ULU8-3;Q9ULU8	.;.;CAPS1_HUMAN	T	489	ENSP00000373215:P489T;ENSP00000350632:P489T;ENSP00000283269:P489T	ENSP00000283269:P489T	P	-	1	0	CADPS	62546012	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.863000	0.87023	2.769000	0.95229	0.563000	0.77884	CCC		PASS	0.418	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394		25	104	25	104	---	---	---	---
TMF1	7110	broad.mit.edu	37	3	69097101	69097101	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr3:69097101C>A	ENST00000398559.2	-	2	971	c.755G>T	c.(754-756)gGt>gTt	p.G252V	CTD-2013N24.2_ENST00000595925.1_RNA|TMF1_ENST00000543976.1_Missense_Mutation_p.G252V|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000596274.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|MIR3136_ENST00000583498.1_RNA			P82094	TMF1_HUMAN	TATA element modulatory factor 1	252					acrosome assembly (GO:0001675)|cellular response to organic cyclic compound (GO:0071407)|defense response to bacterium (GO:0042742)|Leydig cell differentiation (GO:0033327)|luteinizing hormone secretion (GO:0032275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|positive regulation of cytokine production (GO:0001819)|positive regulation of testosterone secretion (GO:2000845)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of transcription, DNA-templated (GO:0006355)|sperm motility (GO:0030317)|spermatid nucleus differentiation (GO:0007289)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription cofactor activity (GO:0003712)	p.G252V(1)		cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		GGTAGAAGTACCTGATGAAAA	0.403																																						uc003dnn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(754-756)GGT>GTT		TATA element modulatory factor 1							77.0	77.0	77.0					3																	69097101		1914	4129	6043	SO:0001583	missense	7110				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity	g.chr3:69097101C>A		CCDS43105.1	3p21-p12	2009-02-11			ENSG00000144747	ENSG00000144747			11870	protein-coding gene	gene with protein product		601126				1409643	Standard	NM_007114		Approved	ARA160, TMF	uc003dnn.3	P82094	OTTHUMG00000158771	ENST00000398559.2:c.755G>T	3.37:g.69097101C>A	ENSP00000381567:p.Gly252Val					TMF1_uc011bfx.1_Missense_Mutation_p.G252V	p.G252V	NM_007114	NP_009045	P82094	TMF1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)	2	1002	-		Lung NSC(201;0.0193)|Prostate(884;0.174)	252					B7ZLJ2|Q17R87|Q59GK0	Missense_Mutation	SNP	ENST00000398559.2	37	c.755G>T	CCDS43105.1	.	.	.	.	.	.	.	.	.	.	C	16.59	3.166953	0.57476	.	.	ENSG00000144747	ENST00000398559;ENST00000543976;ENST00000356248;ENST00000438636	T;T	0.77620	-1.11;-1.11	5.72	5.72	0.89469	.	0.044394	0.85682	D	0.000000	D	0.88115	0.6350	M	0.70275	2.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87355	0.2340	10	0.51188	T	0.08	-19.3862	19.9524	0.97203	0.0:1.0:0.0:0.0	.	252;252	P82094-2;P82094	.;TMF1_HUMAN	V	252;252;165;252	ENSP00000381567:G252V;ENSP00000438706:G252V	ENSP00000348582:G165V	G	-	2	0	TMF1	69179791	1.000000	0.71417	0.984000	0.44739	0.133000	0.20885	7.815000	0.86186	2.714000	0.92807	0.644000	0.83932	GGT		PASS	0.403	TMF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352106.1	NM_007114		14	75	14	75	---	---	---	---
OR5H2	79310	broad.mit.edu	37	3	98002546	98002546	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr3:98002546C>T	ENST00000355273.2	+	1	815	c.815C>T	c.(814-816)gCa>gTa	p.A272V	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	272						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A272V(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						TCTCCACAAGCAGATGACCAA	0.378																																						uc003dsj.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(814-816)GCA>GTA		olfactory receptor, family 5, subfamily H,							79.0	75.0	77.0					3																	98002546		2203	4300	6503	SO:0001583	missense	79310				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98002546C>T		CCDS33801.1	3q11.2	2013-09-23			ENSG00000197938	ENSG00000197938		"""GPCR / Class A : Olfactory receptors"""	14752	protein-coding gene	gene with protein product							Standard	NM_001005482		Approved		uc003dsj.1	Q8NGV7	OTTHUMG00000160080	ENST00000355273.2:c.815C>T	3.37:g.98002546C>T	ENSP00000347418:p.Ala272Val						p.A272V	NM_001005482	NP_001005482	Q8NGV7	OR5H2_HUMAN			1	815	+			272			Extracellular (Potential).		Q6IF87	Missense_Mutation	SNP	ENST00000355273.2	37	c.815C>T	CCDS33801.1	.	.	.	.	.	.	.	.	.	.	C	3.767	-0.048366	0.07407	.	.	ENSG00000197938	ENST00000355273	T	0.00169	8.63	3.03	3.03	0.35002	GPCR, rhodopsin-like superfamily (1);	1.386070	0.05391	U	0.539061	T	0.00210	0.0006	L	0.42529	1.33	0.09310	N	1	B	0.14805	0.011	B	0.20577	0.03	T	0.44742	-0.9308	10	0.62326	D	0.03	.	6.106	0.20073	0.0:0.855:0.0:0.145	.	272	Q8NGV7	OR5H2_HUMAN	V	272	ENSP00000347418:A272V	ENSP00000347418:A272V	A	+	2	0	OR5H2	99485236	0.000000	0.05858	0.188000	0.23233	0.046000	0.14306	-0.227000	0.09126	1.698000	0.51180	0.411000	0.27672	GCA		PASS	0.378	OR5H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359113.2			11	79	11	79	---	---	---	---
CLDND1	56650	broad.mit.edu	37	3	98235705	98235705	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr3:98235705G>A	ENST00000503004.1	-	5	1439	c.560C>T	c.(559-561)tCa>tTa	p.S187L	CLDND1_ENST00000510545.1_Missense_Mutation_p.S187L|CLDND1_ENST00000437922.1_Missense_Mutation_p.S210L|CLDND1_ENST00000394181.2_Missense_Mutation_p.S187L|CLDND1_ENST00000511081.1_Missense_Mutation_p.S92L|CLDND1_ENST00000394185.2_Missense_Mutation_p.S187L|CLDND1_ENST00000513287.1_Missense_Mutation_p.S187L|CLDND1_ENST00000508503.1_5'UTR|CLDND1_ENST00000394180.2_Missense_Mutation_p.S187L|CLDND1_ENST00000507874.1_Intron|CLDND1_ENST00000502288.1_Intron|CLDND1_ENST00000341181.6_Missense_Mutation_p.S187L			Q9NY35	CLDN1_HUMAN	claudin domain containing 1	187						apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.S210L(1)|p.S187L(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	9						ACAACTTACTGAGCCCAGTGT	0.443																																						uc003dsp.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(559-561)TCA>TTA		claudin domain containing 1 protein isoform a							94.0	87.0	89.0					3																	98235705		2203	4300	6503	SO:0001583	missense	56650					integral to membrane		g.chr3:98235705G>A	AF116664	CCDS2930.1, CCDS43116.1	3q12.1	2005-12-23	2005-12-23	2005-12-23		ENSG00000080822			1322	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 4"""	C3orf4			Standard	NM_001040181		Approved		uc003dst.3	Q9NY35		ENST00000503004.1:c.560C>T	3.37:g.98235705G>A	ENSP00000421226:p.Ser187Leu					CLDND1_uc003dso.2_Intron|CLDND1_uc003dsq.2_Missense_Mutation_p.S187L|CLDND1_uc003dss.2_Missense_Mutation_p.S187L|CLDND1_uc003dsr.2_Missense_Mutation_p.S92L|CLDND1_uc003dst.2_Missense_Mutation_p.S210L|CLDND1_uc003dsu.2_Missense_Mutation_p.S187L|CLDND1_uc003dsv.2_Missense_Mutation_p.S187L	p.S187L	NM_019895	NP_063948	Q9NY35	CLDN1_HUMAN			5	1440	-			187			Helical; (Potential).		B3KQR1|D3DN36|F2Z2D9|Q502Y8|Q6UVX2|Q9BUZ9|Q9NZZ5|Q9Y4S9	Missense_Mutation	SNP	ENST00000503004.1	37	c.560C>T	CCDS2930.1	.	.	.	.	.	.	.	.	.	.	G	16.78	3.217049	0.58560	.	.	ENSG00000080822	ENST00000341181;ENST00000437922;ENST00000394180;ENST00000503004;ENST00000394185;ENST00000394181;ENST00000513873;ENST00000510545;ENST00000511081;ENST00000513287;ENST00000511667;ENST00000513452;ENST00000502299;ENST00000512147;ENST00000508902;ENST00000510541;ENST00000514537	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38	5.93	5.93	0.95920	.	0.273852	0.36555	N	0.002525	T	0.67942	0.2947	L	0.38531	1.155	0.50313	D	0.999863	P;P;P	0.47841	0.901;0.818;0.901	P;B;P	0.50162	0.633;0.381;0.633	T	0.67154	-0.5742	10	0.46703	T	0.11	-10.887	17.8306	0.88682	0.0:0.0:1.0:0.0	.	187;92;187	D6RCR8;F2Z2D9;Q9NY35	.;.;CLDN1_HUMAN	L	187;210;187;187;187;187;43;187;92;187;165;187;187;72;187;72;187	ENSP00000340247:S187L;ENSP00000388457:S210L;ENSP00000377734:S187L;ENSP00000421226:S187L;ENSP00000377739:S187L;ENSP00000377735:S187L;ENSP00000426164:S43L;ENSP00000423590:S187L;ENSP00000424669:S92L;ENSP00000426869:S187L;ENSP00000423732:S165L;ENSP00000425539:S187L;ENSP00000420913:S187L;ENSP00000427119:S72L;ENSP00000421413:S187L;ENSP00000424484:S72L;ENSP00000423151:S187L	ENSP00000340247:S187L	S	-	2	0	CLDND1	99718395	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.787000	0.69013	2.805000	0.96524	0.655000	0.94253	TCA		PASS	0.443	CLDND1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359071.1	NM_019895		14	68	14	68	---	---	---	---
COL8A1	1295	broad.mit.edu	37	3	99509692	99509692	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr3:99509692C>A	ENST00000261037.3	+	4	546	c.166C>A	c.(166-168)Cag>Aag	p.Q56K	COL8A1_ENST00000273342.4_Missense_Mutation_p.Q56K	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	56	Nonhelical region (NC2).				angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen type VIII trimer (GO:0005591)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)		p.Q56K(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						GCCCCTGGGTCAGCAAGTACC	0.537																																						uc003dtg.1																			1	Substitution - Missense(1)		lung(1)		0						c.(166-168)CAG>AAG		alpha 1 type VIII collagen precursor							88.0	79.0	82.0					3																	99509692		2203	4300	6503	SO:0001583	missense	1295				angiogenesis|cell adhesion	basement membrane|collagen type VIII		g.chr3:99509692C>A	AF170702	CCDS2934.1	3q11.1-q13.2	2013-01-16			ENSG00000144810	ENSG00000144810		"""Collagens"""	2215	protein-coding gene	gene with protein product		120251	"""chromosome 3 open reading frame 7"""	C3orf7		2029894	Standard	NM_001850		Approved	MGC9568	uc003dth.2	P27658	OTTHUMG00000148669	ENST00000261037.3:c.166C>A	3.37:g.99509692C>A	ENSP00000261037:p.Gln56Lys					COL8A1_uc003dth.1_Missense_Mutation_p.Q56K|COL8A1_uc003dti.1_Missense_Mutation_p.Q56K	p.Q56K	NM_001850	NP_001841	P27658	CO8A1_HUMAN			4	411	+			56			Nonhelical region (NC2).		D3DN42|Q53XI6|Q96D07	Missense_Mutation	SNP	ENST00000261037.3	37	c.166C>A	CCDS2934.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.939152	0.92526	.	.	ENSG00000144810	ENST00000261037;ENST00000452013;ENST00000273342	D;D	0.91124	-2.79;-2.79	5.33	5.33	0.75918	.	0.119417	0.56097	D	0.000021	D	0.92652	0.7665	L	0.43923	1.385	0.53688	D	0.999972	P;P	0.49447	0.924;0.924	P;P	0.62298	0.9;0.9	D	0.92046	0.5644	10	0.46703	T	0.11	.	16.5604	0.84551	0.0:1.0:0.0:0.0	.	56;56	E7EPK9;P27658	.;CO8A1_HUMAN	K	56	ENSP00000261037:Q56K;ENSP00000273342:Q56K	ENSP00000261037:Q56K	Q	+	1	0	COL8A1	100992382	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.951000	0.75983	2.778000	0.95560	0.655000	0.94253	CAG		PASS	0.537	COL8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309001.1	NM_001850		7	81	7	81	---	---	---	---
ZIC1	7545	broad.mit.edu	37	3	147128288	147128288	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr3:147128288G>C	ENST00000282928.4	+	1	1118	c.389G>C	c.(388-390)gGc>gCc	p.G130A		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	130					adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G130A(1)		central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						GGCTTCGGGGGCCCACACGGC	0.711																																						uc003ewe.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(388-390)GGC>GCC		zinc finger protein of the cerebellum 1							11.0	15.0	14.0					3																	147128288		2155	4250	6405	SO:0001583	missense	7545				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:147128288G>C	D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"""Zinc fingers, C2H2-type"""	12872	protein-coding gene	gene with protein product		600470	"""Zic family member 1 (odd-paired Drosophila homolog)"", ""Zic family member 1 (odd-paired homolog, Drosophila)"""			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.389G>C	3.37:g.147128288G>C	ENSP00000282928:p.Gly130Ala						p.G130A	NM_003412	NP_003403	Q15915	ZIC1_HUMAN			1	1108	+			130					Q2M3N1	Missense_Mutation	SNP	ENST00000282928.4	37	c.389G>C	CCDS3136.1	.	.	.	.	.	.	.	.	.	.	G	10.82	1.459319	0.26248	.	.	ENSG00000152977	ENST00000282928	T	0.36157	1.27	3.34	3.34	0.38264	.	0.000000	0.85682	D	0.000000	T	0.26557	0.0649	L	0.31752	0.955	0.80722	D	1	B	0.12630	0.006	B	0.17979	0.02	T	0.08932	-1.0698	10	0.40728	T	0.16	.	12.0701	0.53611	0.0:0.1749:0.825:0.0	.	130	Q15915	ZIC1_HUMAN	A	130	ENSP00000282928:G130A	ENSP00000282928:G130A	G	+	2	0	ZIC1	148610978	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.357000	0.79456	1.878000	0.54408	0.542000	0.68232	GGC		PASS	0.711	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	NM_003412		4	32	4	32	---	---	---	---
MFSD1	64747	broad.mit.edu	37	3	158539385	158539385	+	Splice_Site	SNP	G	G	C			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr3:158539385G>C	ENST00000264266.8	+	10	925		c.e10-1		MFSD1_ENST00000415822.2_Splice_Site|MFSD1_ENST00000392813.4_Splice_Site			Q9H3U5	MFSD1_HUMAN	major facilitator superfamily domain containing 1						transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)		p.?(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	26			Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TTTAATTTTAGAGTTTTCTTT	0.284																																					Pancreas(62;1186 1654 36636 37908)	uc003fcl.1																			2	Unknown(2)		lung(2)		0						c.e10-1		major facilitator superfamily domain containing							41.0	46.0	44.0					3																	158539385		2171	4281	6452	SO:0001630	splice_region_variant	64747				transmembrane transport	integral to membrane		g.chr3:158539385G>C	BC017661	CCDS3185.1, CCDS3185.2, CCDS54666.1	3q25.32	2005-11-17			ENSG00000118855	ENSG00000118855			25874	protein-coding gene	gene with protein product							Standard	NM_022736		Approved	FLJ14153, UG0581B09	uc003fcl.2	Q9H3U5	OTTHUMG00000158835	ENST00000264266.8:c.864-1G>C	3.37:g.158539385G>C						MFSD1_uc003fcm.1_Splice_Site|MFSD1_uc003fcn.1_Splice_Site_p.K191_splice|MFSD1_uc011bow.1_Splice_Site_p.K249_splice|MFSD1_uc011box.1_Splice_Site_p.K215_splice	p.K288_splice	NM_022736	NP_073573	Q9H3U5	MFSD1_HUMAN	Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523)		10	894	+								B4DGJ8|B4DMR8|B4DU49|B4DWU1|C9JS94|J3KQL7|Q05C07|Q5XKJ1|Q8IVS1|Q8IXG4|Q9H7X1	Splice_Site	SNP	ENST00000264266.8	37	c.864_splice		.	.	.	.	.	.	.	.	.	.	G	16.53	3.147791	0.57151	.	.	ENSG00000118855	ENST00000415822;ENST00000392813;ENST00000264266;ENST00000361159	.	.	.	5.26	4.38	0.52667	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4038	0.60898	0.0768:0.0:0.9232:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MFSD1	160022079	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	8.474000	0.90413	1.213000	0.43380	-0.218000	0.12543	.		PASS	0.284	MFSD1-018	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470730.1	NM_022736	Intron	3	114	3	114	---	---	---	---
TTC14	151613	broad.mit.edu	37	3	180328168	180328168	+	Silent	SNP	T	T	C			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr3:180328168T>C	ENST00000296015.4	+	12	2283	c.2151T>C	c.(2149-2151)aaT>aaC	p.N717N	TTC14_ENST00000412756.2_3'UTR|TTC14_ENST00000382584.4_Intron	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	717							RNA binding (GO:0003723)	p.N717N(1)		endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			GAGAGGACAATTATGGGGAGG	0.358																																						uc003fkk.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(2149-2151)AAT>AAC		tetratricopeptide repeat domain 14 isoform a							77.0	80.0	79.0					3																	180328168		2203	4300	6503	SO:0001819	synonymous_variant	151613						RNA binding	g.chr3:180328168T>C	AB075860	CCDS3237.1, CCDS46963.1, CCDS75055.1	3q27.2	2013-01-10			ENSG00000163728	ENSG00000163728		"""Tetratricopeptide (TTC) repeat domain containing"""	24697	protein-coding gene	gene with protein product						11853319	Standard	NM_001042601		Approved	FLJ00166, KIAA1980	uc003fkk.3	Q96N46	OTTHUMG00000157859	ENST00000296015.4:c.2151T>C	3.37:g.180328168T>C						TTC14_uc003fkl.2_3'UTR|TTC14_uc003fkm.2_Intron	p.N717N	NM_133462	NP_597719	Q96N46	TTC14_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		12	2283	+	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		717					G5E9X0|Q6UWJ7|Q8TF22	Silent	SNP	ENST00000296015.4	37	c.2151T>C	CCDS3237.1																																																																																				PASS	0.358	TTC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349786.1	NM_133462		8	147	8	147	---	---	---	---
HTR3E	285242	broad.mit.edu	37	3	183824055	183824055	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr3:183824055C>G	ENST00000415389.2	+	8	1531	c.1065C>G	c.(1063-1065)aaC>aaG	p.N355K	HTR3E_ENST00000436361.2_Missense_Mutation_p.N355K|HTR3E_ENST00000425359.2_Missense_Mutation_p.N340K|HTR3E_ENST00000335304.2_Missense_Mutation_p.N370K|HTR3E-AS1_ENST00000431427.1_RNA|HTR3E_ENST00000440596.2_Missense_Mutation_p.N381K	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine (serotonin) receptor 3E, ionotropic	355					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)	p.N370K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	TCCACTGCAACAGCCCGGGGA	0.657																																					Melanoma(7;227 727 6634 44770)	uc010hxq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1063-1065)AAC>AAG		5-hydroxytryptamine receptor 3 subunit E							42.0	45.0	44.0					3																	183824055		2203	4300	6503	SO:0001583	missense	285242					integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr3:183824055C>G	AY159813	CCDS3251.1, CCDS58868.1, CCDS58869.1, CCDS58870.1, CCDS58871.1	3q27	2012-05-22	2012-02-03		ENSG00000186038	ENSG00000186038		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	24005	protein-coding gene	gene with protein product		610123	"""5-hydroxytryptamine (serotonin) receptor 3, family member E"""			12801637, 15157181	Standard	NM_001256613		Approved		uc010hxr.3	A5X5Y0	OTTHUMG00000156857	ENST00000415389.2:c.1065C>G	3.37:g.183824055C>G	ENSP00000401444:p.Asn355Lys					HTR3E_uc003fml.3_Missense_Mutation_p.N340K|HTR3E_uc003fmm.2_Missense_Mutation_p.N370K|HTR3E_uc010hxr.2_Missense_Mutation_p.N381K|HTR3E_uc003fmn.2_Missense_Mutation_p.N355K	p.N355K	NM_182589	NP_872395	A5X5Y0	5HT3E_HUMAN	Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		8	1531	+	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		355			Cytoplasmic (Potential).		A8IKD7|E9PGF1|Q495G1|Q495G3|Q6V706|Q6V707|Q7Z6B2	Missense_Mutation	SNP	ENST00000415389.2	37	c.1065C>G	CCDS58868.1	.	.	.	.	.	.	.	.	.	.	c	7.555	0.663455	0.14710	.	.	ENSG00000186038	ENST00000415389;ENST00000425359;ENST00000335304;ENST00000436361;ENST00000440596	D;D;D;D;D	0.85088	-1.94;-1.94;-1.94;-1.94;-1.94	4.36	1.19	0.21007	Neurotransmitter-gated ion-channel transmembrane domain (2);	1.045050	0.07633	U	0.928912	T	0.69242	0.3089	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.22276	0.003;0.002;0.067;0.007;0.004	B;B;B;B;B	0.23716	0.007;0.03;0.048;0.018;0.018	T	0.57814	-0.7746	10	0.40728	T	0.16	.	4.6143	0.12418	0.3843:0.5075:0.0:0.1082	.	381;355;355;370;340	E9PGF1;A5X5Y0;A5X5Y0-4;A5X5Y0-3;A5X5Y0-2	.;5HT3E_HUMAN;.;.;.	K	355;340;370;355;381	ENSP00000401444:N355K;ENSP00000401900:N340K;ENSP00000335511:N370K;ENSP00000395833:N355K;ENSP00000406050:N381K	ENSP00000335511:N370K	N	+	3	2	HTR3E	185306749	0.001000	0.12720	0.000000	0.03702	0.066000	0.16364	0.692000	0.25482	0.348000	0.23949	0.561000	0.74099	AAC		PASS	0.657	HTR3E-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346284.1	NM_182589		6	70	6	70	---	---	---	---
STK32B	55351	broad.mit.edu	37	4	5170131	5170131	+	Silent	SNP	C	C	T			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr4:5170131C>T	ENST00000282908.5	+	3	636	c.214C>T	c.(214-216)Ctg>Ttg	p.L72L	STK32B_ENST00000512636.1_Silent_p.L25L|STK32B_ENST00000510398.1_Silent_p.L25L	NM_018401.1	NP_060871.1			serine/threonine kinase 32B									p.L72L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						TTTCCGGGAGCTGCAGATCAT	0.532																																						uc003gih.1																			1	Substitution - coding silent(1)		lung(1)	breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						c.(214-216)CTG>TTG		serine/threonine kinase 32B							99.0	89.0	92.0					4																	5170131		2203	4300	6503	SO:0001819	synonymous_variant	55351						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr4:5170131C>T	AJ250839	CCDS3380.1	4p16	2009-09-30			ENSG00000152953	ENSG00000152953			14217	protein-coding gene	gene with protein product						10700184	Standard	XM_005247982		Approved	STKG6, YANK2, STK32, HSA250839	uc003gih.1	Q9NY57	OTTHUMG00000090423	ENST00000282908.5:c.214C>T	4.37:g.5170131C>T						STK32B_uc010ida.1_Silent_p.L25L	p.L72L	NM_018401	NP_060871	Q9NY57	ST32B_HUMAN			3	278	+			72			Protein kinase.			Silent	SNP	ENST00000282908.5	37	c.214C>T	CCDS3380.1																																																																																				PASS	0.532	STK32B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206854.4	NM_018401		3	40	3	40	---	---	---	---
NFXL1	152518	broad.mit.edu	37	4	47905311	47905311	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr4:47905311T>C	ENST00000507489.1	-	5	722	c.546A>G	c.(544-546)atA>atG	p.I182M	NFXL1_ENST00000381538.3_Missense_Mutation_p.I182M|NFXL1_ENST00000329043.3_Missense_Mutation_p.I182M	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like 1	182						integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.I182M(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						GCATGTGAAATATACAGAAAC	0.343																																						uc010igh.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|skin(1)	3						c.(544-546)ATA>ATG		nuclear transcription factor, X-box binding-like							76.0	75.0	76.0					4																	47905311		2203	4300	6503	SO:0001583	missense	152518					integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr4:47905311T>C	AY134856	CCDS3478.2	4p12	2008-02-05			ENSG00000170448	ENSG00000170448			18726	protein-coding gene	gene with protein product	"""ovarian zinc finger protein"""						Standard	NM_152995		Approved	HOZFP	uc003gxp.3	Q6ZNB6	OTTHUMG00000128621	ENST00000507489.1:c.546A>G	4.37:g.47905311T>C	ENSP00000422037:p.Ile182Met					NFXL1_uc003gxp.2_Missense_Mutation_p.I182M|NFXL1_uc003gxq.3_RNA|NFXL1_uc010igi.2_Missense_Mutation_p.I182M	p.I182M	NM_152995	NP_694540	Q6ZNB6	NFXL1_HUMAN			5	723	-			182			RING-type; atypical.		B1Q2K1|Q86VG1|Q8WVH1	Missense_Mutation	SNP	ENST00000507489.1	37	c.546A>G	CCDS3478.2	.	.	.	.	.	.	.	.	.	.	T	14.99	2.700288	0.48307	.	.	ENSG00000170448	ENST00000381538;ENST00000507489;ENST00000329043	T;T;T	0.43294	0.95;0.95;0.95	5.25	3.99	0.46301	Zinc finger, PHD-type, conserved site (1);Zinc finger, RING-type (1);	0.046195	0.85682	D	0.000000	T	0.37210	0.0995	L	0.49513	1.565	0.45747	D	0.998647	B	0.33964	0.434	B	0.34489	0.184	T	0.32161	-0.9917	10	0.45353	T	0.12	-17.5764	11.8193	0.52228	0.0:0.0:0.1465:0.8535	.	182	Q6ZNB6	NFXL1_HUMAN	M	182	ENSP00000370949:I182M;ENSP00000422037:I182M;ENSP00000333113:I182M	ENSP00000333113:I182M	I	-	3	3	NFXL1	47600068	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.656000	0.37355	1.988000	0.58038	0.454000	0.30748	ATA		PASS	0.343	NFXL1-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361636.1	NM_152995		12	54	12	54	---	---	---	---
C4orf51	646603	broad.mit.edu	37	4	146651106	146651106	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr4:146651106G>T	ENST00000438731.1	+	5	490	c.490G>T	c.(490-492)Gtc>Ttc	p.V164F		NM_001080531.1	NP_001074000.1	C9J302	CD051_HUMAN	chromosome 4 open reading frame 51	164								p.V164F(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)	6						AGGGAAAGGTGTCCTAAAGCA	0.498																																						uc003ikk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(490-492)GTC>TTC		chromosome 4 open reading frame 51							130.0	129.0	129.0					4																	146651106		1958	4144	6102	SO:0001583	missense	646603							g.chr4:146651106G>T		CCDS47140.1	4q31.21	2009-09-09			ENSG00000237136	ENSG00000237136			37264	protein-coding gene	gene with protein product							Standard	NM_001080531		Approved		uc003ikk.3	C9J302	OTTHUMG00000161367	ENST00000438731.1:c.490G>T	4.37:g.146651106G>T	ENSP00000391404:p.Val164Phe						p.V164F	NM_001080531	NP_001074000	C9J302	CD051_HUMAN			5	490	+			164						Missense_Mutation	SNP	ENST00000438731.1	37	c.490G>T	CCDS47140.1	.	.	.	.	.	.	.	.	.	.	G	9.233	1.036341	0.19669	.	.	ENSG00000237136	ENST00000438731	.	.	.	3.73	-2.43	0.06522	.	.	.	.	.	T	0.15262	0.0368	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20338	-1.0278	8	0.32370	T	0.25	.	0.2427	0.00194	0.2143:0.2338:0.1762:0.3757	.	164	C9J302	CD051_HUMAN	F	164	.	ENSP00000391404:V164F	V	+	1	0	C4orf51	146870556	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.066000	0.11598	-0.575000	0.05982	-0.482000	0.04802	GTC		PASS	0.498	C4orf51-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001080531		12	62	12	62	---	---	---	---
CDH10	1008	broad.mit.edu	37	5	24498560	24498560	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr5:24498560G>T	ENST00000264463.4	-	9	1969	c.1462C>A	c.(1462-1464)Cag>Aag	p.Q488K	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	488	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Q488K(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		ACAGCAAACTGTGGGGCATTG	0.408										HNSCC(23;0.051)																												uc003jgr.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|pancreas(4)|breast(2)	12						c.(1462-1464)CAG>AAG		cadherin 10, type 2 preproprotein							77.0	74.0	75.0					5																	24498560		2203	4300	6503	SO:0001583	missense	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24498560G>T	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.1462C>A	5.37:g.24498560G>T	ENSP00000264463:p.Gln488Lys	HNSCC(23;0.051)				CDH10_uc011cnu.1_RNA	p.Q488K	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	9	1794	-			488			Cadherin 5.|Extracellular (Potential).		Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	c.1462C>A	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	G	16.33	3.093953	0.56075	.	.	ENSG00000040731	ENST00000264463	T	0.59083	0.29	5.53	5.53	0.82687	Cadherin (3);Cadherin-like (1);	0.242253	0.40908	D	0.000990	T	0.42787	0.1218	N	0.16903	0.455	0.39509	D	0.968324	B	0.10296	0.003	B	0.08055	0.003	T	0.34950	-0.9808	10	0.48119	T	0.1	.	14.104	0.65075	0.0:0.1502:0.8498:0.0	.	488	Q9Y6N8	CAD10_HUMAN	K	488	ENSP00000264463:Q488K	ENSP00000264463:Q488K	Q	-	1	0	CDH10	24534317	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.461000	0.60115	2.613000	0.88420	0.655000	0.94253	CAG		PASS	0.408	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		14	83	14	83	---	---	---	---
PLCXD3	345557	broad.mit.edu	37	5	41382481	41382481	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr5:41382481G>T	ENST00000377801.3	-	2	333	c.259C>A	c.(259-261)Cag>Aag	p.Q87K	PLCXD3_ENST00000328457.3_Missense_Mutation_p.Q87K			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	87	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)	p.Q87K(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						GCTCCTAGCTGGCCAGTAAAA	0.448																																						uc003jmm.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|urinary_tract(1)|ovary(1)|lung(1)|central_nervous_system(1)	6						c.(259-261)CAG>AAG		phosphatidylinositol-specific phospholipase C, X							59.0	64.0	62.0					5																	41382481		2203	4300	6503	SO:0001583	missense	345557				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	g.chr5:41382481G>T		CCDS34150.1	5p13.1	2004-09-09			ENSG00000182836	ENSG00000182836			31822	protein-coding gene	gene with protein product							Standard	NM_001005473		Approved		uc003jmm.1	Q63HM9	OTTHUMG00000162076	ENST00000377801.3:c.259C>A	5.37:g.41382481G>T	ENSP00000367032:p.Gln87Lys						p.Q87K	NM_001005473	NP_001005473	Q63HM9	PLCX3_HUMAN			2	361	-			87			PI-PLC X-box.		A6NL04	Missense_Mutation	SNP	ENST00000377801.3	37	c.259C>A	CCDS34150.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.578192	0.86645	.	.	ENSG00000182836	ENST00000377801;ENST00000328457	T;T	0.64260	-0.09;-0.09	6.07	6.07	0.98685	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (2);	0.000000	0.85682	D	0.000000	D	0.82655	0.5084	M	0.87900	2.915	0.80722	D	1	P	0.44776	0.843	P	0.61722	0.893	T	0.82950	-0.0203	10	0.66056	D	0.02	-10.1406	20.6593	0.99626	0.0:0.0:1.0:0.0	.	87	Q63HM9	PLCX3_HUMAN	K	87	ENSP00000367032:Q87K;ENSP00000333751:Q87K	ENSP00000333751:Q87K	Q	-	1	0	PLCXD3	41418238	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.434000	0.97515	2.885000	0.99019	0.655000	0.94253	CAG		PASS	0.448	PLCXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367109.1	XM_293875		12	78	12	78	---	---	---	---
MRPS30	10884	broad.mit.edu	37	5	44815184	44815184	+	Silent	SNP	T	T	C			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr5:44815184T>C	ENST00000507110.1	+	5	1238	c.1200T>C	c.(1198-1200)ccT>ccC	p.P400P		NM_016640.3	NP_057724.2	Q9NP92	RT30_HUMAN	mitochondrial ribosomal protein S30	400					apoptotic process (GO:0006915)|translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.P400P(2)		central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1)	20	Lung NSC(6;8.08e-07)					AAAGTAAGCCTCTTTATGAAA	0.333																																						uc003joh.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(1198-1200)CCT>CCC		mitochondrial ribosomal protein S30							76.0	76.0	76.0					5																	44815184		2203	4300	6503	SO:0001819	synonymous_variant	10884				apoptosis|translation	mitochondrion|ribosome	structural constituent of ribosome	g.chr5:44815184T>C	AF146192	CCDS3951.1	5q11	2012-09-13		2001-11-09	ENSG00000112996	ENSG00000112996		"""Mitochondrial ribosomal proteins / small subunits"""	8769	protein-coding gene	gene with protein product		611991		PDCD9		10640817, 11279123	Standard	NM_016640		Approved	PAP	uc003joh.3	Q9NP92	OTTHUMG00000096967	ENST00000507110.1:c.1200T>C	5.37:g.44815184T>C							p.P400P	NM_016640	NP_057724	Q9NP92	RT30_HUMAN			5	1238	+	Lung NSC(6;8.08e-07)		400					Q96I91|Q96Q19|Q9H0P8|Q9NSF9|Q9NZ76	Silent	SNP	ENST00000507110.1	37	c.1200T>C	CCDS3951.1																																																																																				PASS	0.333	MRPS30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214033.2	NM_016640		8	58	8	58	---	---	---	---
MAST4	375449	broad.mit.edu	37	5	66429345	66429345	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr5:66429345G>T	ENST00000403625.2	+	17	2392	c.2097G>T	c.(2095-2097)ttG>ttT	p.L699F	MAST4_ENST00000405643.1_Missense_Mutation_p.L520F|MAST4_ENST00000404260.3_Missense_Mutation_p.L702F|MAST4_ENST00000403666.1_Missense_Mutation_p.L510F|MAST4_ENST00000261569.7_Missense_Mutation_p.L505F	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	702	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.L702F(1)		breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CTCATAGCTTGTTGGTTACCT	0.408																																						uc003jut.1																			1	Substitution - Missense(1)		lung(1)	lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1)	13						c.(1528-1530)TTG>TTT		microtubule associated serine/threonine kinase							163.0	162.0	163.0					5																	66429345		1917	4125	6042	SO:0001583	missense	375449					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:66429345G>T	AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.2097G>T	5.37:g.66429345G>T	ENSP00000385727:p.Leu699Phe					MAST4_uc003juu.1_Missense_Mutation_p.L520F|MAST4_uc011cra.1_Missense_Mutation_p.L493F|MAST4_uc003juv.2_Missense_Mutation_p.L505F|MAST4_uc003juw.2_Missense_Mutation_p.L505F	p.L510F	NM_015183	NP_055998	O15021	MAST4_HUMAN		Lung(70;0.011)	16	1598	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	702			Protein kinase.		A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	ENST00000403625.2	37	c.1530G>T	CCDS54861.1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.759142	0.69763	.	.	ENSG00000069020	ENST00000404260;ENST00000403625;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569;ENST00000432399	T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6	5.32	5.32	0.75619	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000002	T	0.41789	0.1174	L	0.33624	1.015	0.46396	D	0.999024	D;D;D;D	0.89917	0.999;1.0;1.0;0.987	D;D;D;D	0.97110	0.998;1.0;1.0;0.937	T	0.29088	-1.0023	10	0.87932	D	0	-10.1643	9.4566	0.38758	0.1978:0.0:0.8022:0.0	.	520;702;505;510	E7EWQ5;O15021;O15021-2;O15021-3	.;MAST4_HUMAN;.;.	F	702;699;510;520;520;505;505	ENSP00000385048:L702F;ENSP00000385727:L699F;ENSP00000384313:L510F;ENSP00000384099:L520F;ENSP00000261569:L505F	ENSP00000261569:L505F	L	+	3	2	MAST4	66465101	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.281000	0.51685	2.650000	0.89964	0.563000	0.77884	TTG		PASS	0.408	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2			6	150	6	150	---	---	---	---
AP3B1	8546	broad.mit.edu	37	5	77521374	77521374	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr5:77521374T>C	ENST00000255194.6	-	6	770	c.595A>G	c.(595-597)Aaa>Gaa	p.K199E	AP3B1_ENST00000519295.1_Missense_Mutation_p.K150E	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	199					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein targeting to lysosome (GO:0006622)	AP-3 adaptor complex (GO:0030123)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|protein phosphatase binding (GO:0019903)	p.K199E(1)		breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		ACTGTGCTTTTATCTTTCAGA	0.229									Hermansky-Pudlak syndrome																													uc003kfj.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(595-597)AAA>GAA		adaptor-related protein complex 3, beta 1							53.0	54.0	54.0					5																	77521374		2191	4275	6466	SO:0001583	missense	8546	Hermansky-Pudlak_syndrome	Familial Cancer Database	HPS, HPS1-8	endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity	g.chr5:77521374T>C	U81504	CCDS4041.1, CCDS64186.1	5q14.1	2014-09-17			ENSG00000132842	ENSG00000132842			566	protein-coding gene	gene with protein product		603401				9182526, 9151686	Standard	NM_003664		Approved	ADTB3A, HPS2	uc003kfj.4	O00203	OTTHUMG00000106919	ENST00000255194.6:c.595A>G	5.37:g.77521374T>C	ENSP00000255194:p.Lys199Glu						p.K199E	NM_003664	NP_003655	O00203	AP3B1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)	6	720	-		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)	199					E5RJ68|O00580|Q7Z393|Q9HD66	Missense_Mutation	SNP	ENST00000255194.6	37	c.595A>G	CCDS4041.1	.	.	.	.	.	.	.	.	.	.	T	29.9	5.043966	0.93685	.	.	ENSG00000132842	ENST00000255194;ENST00000519295;ENST00000535760;ENST00000535667	T;T	0.12465	2.68;2.68	5.83	5.83	0.93111	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.049324	0.85682	D	0.000000	T	0.26810	0.0656	L	0.59912	1.85	0.58432	D	0.999992	D	0.56035	0.974	P	0.52031	0.688	T	0.00766	-1.1575	10	0.87932	D	0	-23.3445	16.1967	0.82036	0.0:0.0:0.0:1.0	.	199	O00203	AP3B1_HUMAN	E	199;150;199;103	ENSP00000255194:K199E;ENSP00000430597:K150E	ENSP00000255194:K199E	K	-	1	0	AP3B1	77557130	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.961000	0.87903	2.217000	0.71921	0.477000	0.44152	AAA		PASS	0.229	AP3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000225548.2			5	30	5	30	---	---	---	---
SLC25A48	153328	broad.mit.edu	37	5	135188282	135188282	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr5:135188282C>A	ENST00000420621.1	+	4	365	c.193C>A	c.(193-195)Ccc>Acc	p.P65T	SLC25A48_ENST00000412661.2_Missense_Mutation_p.P65T|SLC25A48_ENST00000433282.2_Missense_Mutation_p.P11T|SLC25A48_ENST00000425402.1_Intron|SLC25A48_ENST00000274513.5_Missense_Mutation_p.P65T			Q6ZT89	S2548_HUMAN	solute carrier family 25, member 48	65					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)		p.P65T(2)		NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						CATGTCCTTCCCCCTCGCCAG	0.627																																						uc003laz.1																			2	Substitution - Missense(2)		lung(2)		0						c.(193-195)CCC>ACC		RecName: Full=Putative mitochondrial carrier protein FLJ44862;							131.0	140.0	137.0					5																	135188282		2034	4192	6226	SO:0001583	missense	153328				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr5:135188282C>A		CCDS43366.2	5q31.1	2013-05-22			ENSG00000145832	ENSG00000145832		"""Solute carriers"""	30451	protein-coding gene	gene with protein product	"""HCC-down-regulated mitochondrial carrier protein"""					15322095, 19303656	Standard	NM_145282		Approved	FLJ44862, HDMCP	uc003lba.3	Q6ZT89	OTTHUMG00000157007	ENST00000420621.1:c.193C>A	5.37:g.135188282C>A	ENSP00000407973:p.Pro65Thr					LOC153328_uc003lba.2_Missense_Mutation_p.P65T	p.P65T			Q6ZT89	S2548_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		4	365	+			65			Solcar 1.|Helical; Name=2; (Potential).		Q8TAV9	Missense_Mutation	SNP	ENST00000420621.1	37	c.193C>A		.	.	.	.	.	.	.	.	.	.	C	23.9	4.468882	0.84533	.	.	ENSG00000145832	ENST00000274513;ENST00000420621;ENST00000433282;ENST00000412661	T;T;T;T	0.77750	-1.06;-1.06;-1.12;-1.06	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	D	0.87398	0.6167	M	0.69185	2.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88631	0.3169	10	0.72032	D	0.01	-39.7414	18.482	0.90815	0.0:1.0:0.0:0.0	.	65;65	Q6ZT89-3;Q6ZT89-2	.;.	T	65;65;11;65	ENSP00000274513:P65T;ENSP00000407973:P65T;ENSP00000399834:P11T;ENSP00000413049:P65T	ENSP00000274513:P65T	P	+	1	0	SLC25A48	135216181	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	7.818000	0.86416	2.359000	0.80004	0.462000	0.41574	CCC		PASS	0.627	SLC25A48-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_145282		5	162	5	162	---	---	---	---
PKD2L2	27039	broad.mit.edu	37	5	137241999	137241999	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr5:137241999C>T	ENST00000508883.1	+	6	877	c.851C>T	c.(850-852)tCc>tTc	p.S284F	PKD2L2_ENST00000508638.1_Missense_Mutation_p.S284F|PKD2L2_ENST00000502810.1_Missense_Mutation_p.S284F|PKD2L2_ENST00000350250.4_Missense_Mutation_p.S250F|PKD2L2_ENST00000290431.5_Missense_Mutation_p.S284F			Q9NZM6	PK2L2_HUMAN	polycystic kidney disease 2-like 2	284					calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)	integral component of membrane (GO:0016021)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)	p.S284F(1)		breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TTTATTGCTTCCTGTGAAATC	0.343																																						uc003lby.2																			1	Substitution - Missense(1)		lung(1)		0						c.(850-852)TCC>TTC		polycystic kidney disease 2-like 2							130.0	119.0	122.0					5																	137241999		1816	4080	5896	SO:0001583	missense	27039					integral to membrane	calcium ion binding|ion channel activity	g.chr5:137241999C>T	AF118125	CCDS43367.1, CCDS58971.1, CCDS58972.1	5q31	2011-12-16			ENSG00000078795	ENSG00000078795		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9012	protein-coding gene	gene with protein product		604669				10602361	Standard	NM_014386		Approved	TRPP5	uc003lbw.1	Q9NZM6	OTTHUMG00000163306	ENST00000508883.1:c.851C>T	5.37:g.137241999C>T	ENSP00000424725:p.Ser284Phe					PKD2L2_uc010jep.1_Missense_Mutation_p.S224F|PKD2L2_uc003lbw.1_Missense_Mutation_p.S284F|PKD2L2_uc003lbx.2_Missense_Mutation_p.S284F|PKD2L2_uc011cyi.1_5'UTR	p.S284F	NM_014386	NP_055201	Q9NZM6	PK2L2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		6	907	+			284			Helical; (Potential).		A6NK98|B4DXD2|E9PC91|E9PDG4|Q86YB4|Q9UNJ0	Missense_Mutation	SNP	ENST00000508883.1	37	c.851C>T		.	.	.	.	.	.	.	.	.	.	C	13.30	2.196931	0.38806	.	.	ENSG00000078795	ENST00000350250;ENST00000508638;ENST00000502810;ENST00000508883;ENST00000290431	T;T;T;T;T	0.69685	-0.42;-0.42;-0.42;-0.42;-0.42	5.3	4.44	0.53790	Polycystin cation channel, PKD1/PKD2 (1);	0.098275	0.45606	N	0.000344	T	0.59756	0.2217	L	0.56769	1.78	0.31671	N	0.644336	B;B;B	0.32203	0.005;0.288;0.36	B;B;B	0.32583	0.033;0.148;0.063	T	0.63844	-0.6545	9	.	.	.	-3.9184	9.3109	0.37903	0.0:0.7779:0.1447:0.0774	.	284;284;284	Q9NZM6;E9PC91;Q9NZM6-5	PK2L2_HUMAN;.;.	F	250;284;284;284;284	ENSP00000344177:S250F;ENSP00000423382:S284F;ENSP00000425513:S284F;ENSP00000424725:S284F;ENSP00000290431:S284F	.	S	+	2	0	PKD2L2	137269898	0.647000	0.27304	1.000000	0.80357	0.992000	0.81027	0.777000	0.26718	1.251000	0.43983	0.467000	0.42956	TCC		PASS	0.343	PKD2L2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000372521.1	NM_014386		18	96	18	96	---	---	---	---
ANKHD1	54882	broad.mit.edu	37	5	139876442	139876442	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr5:139876442A>T	ENST00000360839.2	+	15	2737	c.2583A>T	c.(2581-2583)aaA>aaT	p.K861N	ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.K861N|ANKHD1_ENST00000297183.6_Missense_Mutation_p.K861N|ANKHD1_ENST00000462121.1_3'UTR	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	861						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.K861N(2)		breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGAAACCAAAGGTCAGAAAG	0.433																																						uc003lfs.1																			2	Substitution - Missense(2)		lung(2)	ovary(6)	6						c.(2581-2583)AAA>AAT		ANKHD1-EIF4EBP3 protein							100.0	101.0	101.0					5																	139876442		2203	4300	6503	SO:0001583	missense	404734					cytoplasm|nucleus	RNA binding	g.chr5:139876442A>T	AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.2583A>T	5.37:g.139876442A>T	ENSP00000354085:p.Lys861Asn					ANKHD1_uc003lfq.1_Missense_Mutation_p.K880N|ANKHD1_uc003lfr.2_Missense_Mutation_p.K861N|ANKHD1_uc003lft.1_Intron|ANKHD1_uc003lfu.1_Missense_Mutation_p.K341N|ANKHD1_uc003lfv.1_Intron	p.K861N	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		15	2707	+			861					A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	ENST00000360839.2	37	c.2583A>T	CCDS4225.1	.	.	.	.	.	.	.	.	.	.	A	14.89	2.671631	0.47781	.	.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996	ENST00000360839;ENST00000422011;ENST00000297183;ENST00000253810;ENST00000310356;ENST00000421134;ENST00000532219	T;T;T;T	0.72725	-0.65;-0.68;-0.48;-0.68	5.46	5.46	0.80206	Ankyrin repeat-containing domain (1);	0.107759	0.64402	D	0.000007	T	0.69251	0.3090	L	0.50333	1.59	0.48452	D	0.999656	P;P;P	0.49559	0.925;0.877;0.734	P;B;B	0.47075	0.536;0.417;0.254	T	0.71374	-0.4612	10	0.49607	T	0.09	.	11.7741	0.51975	0.8532:0.1468:0.0:0.0	.	861;861;861	Q8IWZ3-4;Q8IWZ2;Q8IWZ3	.;.;ANKH1_HUMAN	N	861;894;861;861;395;880;861	ENSP00000354085:K861N;ENSP00000297183:K861N;ENSP00000394489:K880N;ENSP00000432016:K861N	ENSP00000432016:K861N	K	+	3	2	ANKHD1-EIF4EBP3;ANKHD1	139856626	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.013000	0.70776	2.191000	0.70037	0.477000	0.44152	AAA		PASS	0.433	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747		16	109	16	109	---	---	---	---
PCDHB2	56133	broad.mit.edu	37	5	140475898	140475898	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr5:140475898C>G	ENST00000194155.4	+	1	1672	c.1524C>G	c.(1522-1524)atC>atG	p.I508M		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	508	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.I508M(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGTCTCCATCAACGCGGACA	0.701																																						uc003lil.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(2)|pancreas(1)	6						c.(1522-1524)ATC>ATG		protocadherin beta 2 precursor							80.0	85.0	83.0					5																	140475898		2203	4300	6503	SO:0001583	missense	56133				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140475898C>G	AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"""Cadherins / Protocadherins : Clustered"""	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.1524C>G	5.37:g.140475898C>G	ENSP00000194155:p.Ile508Met					PCDHB2_uc003lim.1_Missense_Mutation_p.I169M	p.I508M	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1662	+			508			Extracellular (Potential).|Cadherin 5.		Q4KMU1	Missense_Mutation	SNP	ENST00000194155.4	37	c.1524C>G	CCDS4244.1	.	.	.	.	.	.	.	.	.	.	C	14.22	2.471185	0.43942	.	.	ENSG00000112852	ENST00000194155	T	0.72615	-0.67	4.5	2.62	0.31277	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.82001	0.4942	M	0.83118	2.625	0.30899	N	0.729498	D	0.89917	1.0	D	0.76575	0.988	T	0.77778	-0.2460	9	0.87932	D	0	.	6.4995	0.22160	0.0:0.6858:0.1493:0.1649	.	508	Q9Y5E7	PCDB2_HUMAN	M	508	ENSP00000194155:I508M	ENSP00000194155:I508M	I	+	3	3	PCDHB2	140456082	0.117000	0.22190	0.997000	0.53966	0.943000	0.58893	-0.402000	0.07223	0.402000	0.25451	0.556000	0.70494	ATC		PASS	0.701	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936		24	142	24	142	---	---	---	---
ARAP3	64411	broad.mit.edu	37	5	141039405	141039405	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr5:141039405C>T	ENST00000239440.4	-	22	3273	c.3208G>A	c.(3208-3210)Ggg>Agg	p.G1070R	ARAP3_ENST00000513878.1_Missense_Mutation_p.G732R|ARAP3_ENST00000512390.1_5'UTR|ARAP3_ENST00000508305.1_Missense_Mutation_p.G901R	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	1070	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)	p.G1070R(1)		NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						TCGTGCTCCCCTCGCCCATCC	0.567																																						uc003llm.2																			1	Substitution - Missense(1)		lung(1)	breast(5)|ovary(1)|large_intestine(1)	7						c.(3208-3210)GGG>AGG		ArfGAP with RhoGAP domain, ankyrin repeat and PH							68.0	59.0	62.0					5																	141039405		2203	4300	6503	SO:0001583	missense	64411				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	g.chr5:141039405C>T	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	24097	protein-coding gene	gene with protein product		606647	"""centaurin, delta 3"""	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.3208G>A	5.37:g.141039405C>T	ENSP00000239440:p.Gly1070Arg					ARAP3_uc003lll.2_Missense_Mutation_p.G21R|ARAP3_uc011dbe.1_Missense_Mutation_p.G732R|ARAP3_uc003lln.2_Missense_Mutation_p.G901R	p.G1070R	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN			22	3286	-			1070			Rho-GAP.		B4DIT1|D3DQE3	Missense_Mutation	SNP	ENST00000239440.4	37	c.3208G>A	CCDS4266.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.199522	0.79015	.	.	ENSG00000120318	ENST00000508305;ENST00000239440;ENST00000513878	T;T;T	0.11604	2.76;2.76;2.76	5.19	5.19	0.71726	Rho GTPase-activating protein domain (3);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.34513	0.0900	M	0.70903	2.155	0.53005	D	0.999961	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.968;1.0;1.0	T	0.02202	-1.1196	10	0.59425	D	0.04	.	18.5136	0.90926	0.0:1.0:0.0:0.0	.	732;901;1070	B4DIT1;G5E9Y3;Q8WWN8	.;.;ARAP3_HUMAN	R	901;1070;732	ENSP00000421826:G901R;ENSP00000239440:G1070R;ENSP00000421468:G732R	ENSP00000239440:G1070R	G	-	1	0	ARAP3	141019589	1.000000	0.71417	0.974000	0.42286	0.668000	0.39293	5.479000	0.66813	2.711000	0.92665	0.655000	0.94253	GGG		PASS	0.567	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		4	35	4	35	---	---	---	---
ITK	3702	broad.mit.edu	37	5	156638380	156638380	+	Splice_Site	SNP	G	G	T			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr5:156638380G>T	ENST00000422843.3	+	3	477		c.e3+1		CTB-4E7.1_ENST00000519375.1_RNA	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase						activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cellular defense response (GO:0006968)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|intracellular signal transduction (GO:0035556)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.?(1)		breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		Pazopanib(DB06589)	CTTAAAGAAGGTAATTAAACT	0.493			T	SYK	peripheral T-cell lymphoma																																Esophageal Squamous(70;1378 1469 8785 19883)	uc003lwo.1				Dom	yes		5	5q31-q32	3702	T	IL2-inducible T-cell kinase			L	SYK		peripheral T-cell lymphoma		1	Unknown(1)		lung(1)	lung(12)|ovary(8)|skin(4)|stomach(1)|central_nervous_system(1)	26						c.e3+1		IL2-inducible T-cell kinase							88.0	85.0	86.0					5																	156638380		2203	4300	6503	SO:0001630	splice_region_variant	3702				cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr5:156638380G>T	D13720	CCDS4336.1	5q31-q32	2014-09-17			ENSG00000113263	ENSG00000113263		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	6171	protein-coding gene	gene with protein product		186973				8364206	Standard	NM_005546		Approved	EMT, PSCTK2, LYK	uc003lwo.1	Q08881	OTTHUMG00000130245	ENST00000422843.3:c.325+1G>T	5.37:g.156638380G>T							p.E109_splice	NM_005546	NP_005537	Q08881	ITK_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		3	407	+	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)						B2R752|Q32ML7	Splice_Site	SNP	ENST00000422843.3	37	c.325_splice	CCDS4336.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.433777	0.83776	.	.	ENSG00000113263	ENST00000422843	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8345	0.92155	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ITK	156570958	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.633000	0.83260	2.735000	0.93741	0.655000	0.94253	.		PASS	0.493	ITK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252569.2		Intron	18	98	18	98	---	---	---	---
PROP1	5626	broad.mit.edu	37	5	177422872	177422872	+	Silent	SNP	C	C	T			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr5:177422872C>T	ENST00000308304.2	-	1	371	c.63G>A	c.(61-63)ctG>ctA	p.L21L		NM_006261.4	NP_006252	O75360	PROP1_HUMAN	PROP paired-like homeobox 1	21					blood vessel development (GO:0001568)|canonical Wnt signaling pathway (GO:0060070)|cell migration (GO:0016477)|central nervous system development (GO:0007417)|dorsal/ventral pattern formation (GO:0009953)|hypophysis morphogenesis (GO:0048850)|hypothalamus cell differentiation (GO:0021979)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatotropin secreting cell differentiation (GO:0060126)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)	p.L21L(1)		endometrium(1)|large_intestine(2)|lung(9)|stomach(1)	13	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCTCAGGCAACAGGTTGCTGC	0.657																																						uc003mif.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(61-63)CTG>CTA		PROP paired-like homeobox 1							79.0	73.0	75.0					5																	177422872		2203	4300	6503	SO:0001819	synonymous_variant	5626				central nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:177422872C>T	AF076215	CCDS4430.1	5q35.3	2011-06-20	2007-07-12		ENSG00000175325	ENSG00000175325		"""Homeoboxes / PRD class"""	9455	protein-coding gene	gene with protein product		601538	"""prophet of Pit1, paired-like homeodomain transcription factor"""			9462743	Standard	NM_006261		Approved		uc003mif.1	O75360	OTTHUMG00000130887	ENST00000308304.2:c.63G>A	5.37:g.177422872C>T							p.L21L	NM_006261	NP_006252	O75360	PROP1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		1	372	-	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	21						Silent	SNP	ENST00000308304.2	37	c.63G>A	CCDS4430.1																																																																																				PASS	0.657	PROP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253472.1	NM_006261		9	77	9	77	---	---	---	---
HIST1H2AH	85235	broad.mit.edu	37	6	27115231	27115231	+	Silent	SNP	C	C	T			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr6:27115231C>T	ENST00000377459.1	+	1	371	c.324C>T	c.(322-324)gtC>gtT	p.V108V	HIST1H2BK_ENST00000356950.1_5'Flank|MIR3143_ENST00000584253.1_RNA|HIST1H2BK_ENST00000396891.4_5'Flank	NM_080596.1	NP_542163.1	Q96KK5	H2A1H_HUMAN	histone cluster 1, H2ah	108						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.V108V(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|prostate(1)|skin(1)	12						AGGGTGGTGTCTTGCCCAATA	0.547																																						uc003niz.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(322-324)GTC>GTT		histone cluster 1, H2ah							83.0	82.0	83.0					6																	27115231		2203	4300	6503	SO:0001819	synonymous_variant	85235				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27115231C>T	AY131988	CCDS4622.1	6p22.1	2011-01-27	2006-10-11			ENSG00000274997		"""Histones / Replication-dependent"""	13671	protein-coding gene	gene with protein product		615013	"""histone 1, H2ah"""			12408966	Standard	NM_080596		Approved	H2AFALii, dJ86C11.1, H2A/S	uc003niz.4	Q96KK5		ENST00000377459.1:c.324C>T	6.37:g.27115231C>T						HIST1H2BK_uc003nix.1_5'Flank|hsa-mir-3143|MI0014167_5'Flank	p.V108V	NM_080596	NP_542163	Q96KK5	H2A1H_HUMAN			1	324	+			108						Silent	SNP	ENST00000377459.1	37	c.324C>T	CCDS4622.1																																																																																				PASS	0.547	HIST1H2AH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040136.1	NM_080596		4	98	4	98	---	---	---	---
PRIM2	5558	broad.mit.edu	37	6	57512544	57512544	+	3'UTR	SNP	G	G	C			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr6:57512544G>C	ENST00000389488.2	+	0	1459				PRIM2_ENST00000607273.1_3'UTR			P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)						DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)	p.G458R(2)|p.G458S(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		TCTAAATGGTGGTAAAGACAT	0.388																																						uc003pdx.2																			3	Substitution - Missense(3)		lung(3)		0						c.(1372-1374)GGT>CGT		DNA primase polypeptide 2							297.0	267.0	277.0					6																	57512544		1955	4160	6115	SO:0001624	3_prime_UTR_variant	5558				DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding	g.chr6:57512544G>C		CCDS75476.1, CCDS75477.1	6p12-p11.1	2013-01-31	2007-06-19	2007-06-19	ENSG00000146143	ENSG00000146143			9370	protein-coding gene	gene with protein product		176636	"""primase, polypeptide 2A (58kD)"", ""primase, polypeptide 2A, 58kDa"""	PRIM2A		8530050, 20675616	Standard	NM_001282487		Approved		uc003pdx.3	P49643	OTTHUMG00000016190	ENST00000389488.2:c.*1456G>C	6.37:g.57512544G>C							p.G458R	NM_000947	NP_000938	P49643	PRI2_HUMAN		Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)	15	1459	+			458					Q53FJ8|Q6P1Q7|Q8WVL2|Q9H413	Missense_Mutation	SNP	ENST00000389488.2	37	c.1372G>C																																																																																					PASS	0.388	PRIM2-001	KNOWN	sequence_error|basic	processed_transcript	protein_coding	OTTHUMT00000043468.3	NM_000947		5	222	5	222	---	---	---	---
EYS	346007	broad.mit.edu	37	6	66200499	66200499	+	Nonsense_Mutation	SNP	C	C	A			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr6:66200499C>A	ENST00000370621.3	-	5	1376	c.850G>T	c.(850-852)Gag>Tag	p.E284*	EYS_ENST00000370616.2_Nonsense_Mutation_p.E284*|EYS_ENST00000342421.5_Nonsense_Mutation_p.E284*|EYS_ENST00000370618.3_Nonsense_Mutation_p.E284*|EYS_ENST00000503581.1_Nonsense_Mutation_p.E284*|EYS_ENST00000393380.2_Nonsense_Mutation_p.E284*			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	284	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.E284*(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						GAAAATTGCTCATCACATTCA	0.289																																						uc011dxu.1																			2	Substitution - Nonsense(2)		lung(2)	lung(4)|ovary(1)|skin(1)	6						c.(850-852)GAG>TAG		eyes shut homolog isoform 1							64.0	59.0	61.0					6																	66200499		2203	4295	6498	SO:0001587	stop_gained	346007				response to stimulus|visual perception	extracellular region	calcium ion binding	g.chr6:66200499C>A		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.850G>T	6.37:g.66200499C>A	ENSP00000359655:p.Glu284*					EYS_uc003peq.2_Nonsense_Mutation_p.E284*|EYS_uc003per.1_Nonsense_Mutation_p.E284*|EYS_uc010kaj.1_RNA	p.E284*	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN			5	1388	-			284			EGF-like 3.		A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Nonsense_Mutation	SNP	ENST00000370621.3	37	c.850G>T		.	.	.	.	.	.	.	.	.	.	C	17.04	3.287668	0.59976	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	.	.	.	4.33	1.52	0.23074	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	3.5784	0.07943	0.1757:0.5332:0.0:0.2911	.	.	.	.	X	284	.	ENSP00000341818:E284X	E	-	1	0	EYS	66257220	0.827000	0.29292	0.000000	0.03702	0.038000	0.13279	0.804000	0.27098	0.068000	0.16574	-0.182000	0.12963	GAG		PASS	0.289	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050		35	31	35	31	---	---	---	---
COL12A1	1303	broad.mit.edu	37	6	75828897	75828897	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr6:75828897C>T	ENST00000322507.8	-	46	7525	c.7216G>A	c.(7216-7218)Gcc>Acc	p.A2406T	COL12A1_ENST00000483888.2_Missense_Mutation_p.A2406T|COL12A1_ENST00000345356.6_Missense_Mutation_p.A1242T|COL12A1_ENST00000416123.2_Missense_Mutation_p.A2406T	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2406	VWFA 4. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)	p.A2406T(1)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						AACGTGAGGGCCTTGCCTACA	0.473																																						uc003phs.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						c.(7216-7218)GCC>ACC		collagen, type XII, alpha 1 long isoform							95.0	91.0	93.0					6																	75828897		1921	4123	6044	SO:0001583	missense	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75828897C>T	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.7216G>A	6.37:g.75828897C>T	ENSP00000325146:p.Ala2406Thr					COL12A1_uc003pht.2_Missense_Mutation_p.A1242T	p.A2406T	NM_004370	NP_004361	Q99715	COCA1_HUMAN			46	7382	-			2406			VWFA 4.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	c.7216G>A	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	C	34	5.299723	0.95574	.	.	ENSG00000111799	ENST00000322507;ENST00000425443;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888	D;D;D;D;D	0.89746	-2.56;-2.56;-2.56;-2.56;-2.56	5.78	5.78	0.91487	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	D	0.96269	0.8783	H	0.94503	3.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.96689	0.9509	10	0.87932	D	0	.	20.0175	0.97485	0.0:1.0:0.0:0.0	.	1242;2406	Q99715-2;Q99715	.;COCA1_HUMAN	T	2406;44;2406;1242;2406;2406	ENSP00000325146:A2406T;ENSP00000399812:A44T;ENSP00000305147:A1242T;ENSP00000412864:A2406T;ENSP00000421216:A2406T	ENSP00000325146:A2406T	A	-	1	0	COL12A1	75885617	1.000000	0.71417	0.999000	0.59377	0.789000	0.44602	7.818000	0.86416	2.730000	0.93505	0.650000	0.86243	GCC		PASS	0.473	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		5	60	5	60	---	---	---	---
MDN1	23195	broad.mit.edu	37	6	90353767	90353767	+	Missense_Mutation	SNP	A	A	C			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr6:90353767A>C	ENST00000369393.3	-	102	16863	c.16748T>G	c.(16747-16749)cTc>cGc	p.L5583R	MDN1_ENST00000428876.1_Missense_Mutation_p.L5583R			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	5583	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)	p.L5583R(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CCACTGTCTGAGGGCATCGCT	0.463																																						uc003pnn.1																			1	Substitution - Missense(1)		lung(1)	ovary(8)|skin(2)	10						c.(16747-16749)CTC>CGC		MDN1, midasin homolog							145.0	125.0	132.0					6																	90353767		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90353767A>C	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.16748T>G	6.37:g.90353767A>C	ENSP00000358400:p.Leu5583Arg						p.L5583R	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	102	16864	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	5583			VWFA.		O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.16748T>G	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	A	16.05	3.014328	0.54468	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.25250	1.81;1.81	5.83	5.83	0.93111	von Willebrand factor, type A (1);	0.000000	0.64402	D	0.000001	T	0.54951	0.1890	M	0.93016	3.37	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.67964	-0.5534	10	0.87932	D	0	.	16.1988	0.82053	1.0:0.0:0.0:0.0	.	5583	Q9NU22	MDN1_HUMAN	R	5583	ENSP00000358400:L5583R;ENSP00000413970:L5583R	ENSP00000358400:L5583R	L	-	2	0	MDN1	90410488	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	8.678000	0.91211	2.230000	0.72887	0.454000	0.30748	CTC		PASS	0.463	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			3	108	3	108	---	---	---	---
BEND3	57673	broad.mit.edu	37	6	107391975	107391975	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr6:107391975C>G	ENST00000369042.1	-	4	610	c.420G>C	c.(418-420)gaG>gaC	p.E140D	BEND3_ENST00000429433.2_Missense_Mutation_p.E140D			Q5T5X7	BEND3_HUMAN	BEN domain containing 3	140								p.E140D(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						GATTCTTCTTCTCCATGATCT	0.577																																						uc003prs.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(418-420)GAG>GAC		BEN domain containing 3							119.0	118.0	118.0					6																	107391975		2203	4300	6503	SO:0001583	missense	57673							g.chr6:107391975C>G	AB046773	CCDS34507.1	6q21	2012-11-22	2008-10-03	2008-10-03	ENSG00000178409	ENSG00000178409		"""BEN domain containing"""	23040	protein-coding gene	gene with protein product			"""KIAA1553"""	KIAA1553			Standard	NM_001080450		Approved		uc003prs.2	Q5T5X7	OTTHUMG00000015308	ENST00000369042.1:c.420G>C	6.37:g.107391975C>G	ENSP00000358038:p.Glu140Asp						p.E140D	NM_001080450	NP_001073919	Q5T5X7	BEND3_HUMAN			5	1070	-			140					A2RRH2|Q9HCL9	Missense_Mutation	SNP	ENST00000369042.1	37	c.420G>C	CCDS34507.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.031410	0.75504	.	.	ENSG00000178409	ENST00000369042;ENST00000429433	.	.	.	4.87	3.04	0.35103	.	0.063283	0.64402	D	0.000009	T	0.30008	0.0751	L	0.32530	0.975	0.40368	D	0.979316	B	0.25272	0.122	B	0.21917	0.037	T	0.37888	-0.9686	9	0.87932	D	0	-45.103	11.4924	0.50389	0.0:0.8495:0.0:0.1505	.	140	Q5T5X7	BEND3_HUMAN	D	140	.	ENSP00000358038:E140D	E	-	3	2	BEND3	107498668	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	1.630000	0.37081	1.278000	0.44430	0.455000	0.32223	GAG		PASS	0.577	BEND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041686.1	NM_020913		16	132	16	132	---	---	---	---
MCM9	254394	broad.mit.edu	37	6	119232904	119232904	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr6:119232904G>C	ENST00000316316.6	-	7	1347	c.1061C>G	c.(1060-1062)cCt>cGt	p.P354R	MCM9_ENST00000316068.3_Missense_Mutation_p.P354R	NM_017696.2	NP_060166.2	Q9NXL9	MCM9_HUMAN	minichromosome maintenance complex component 9	354	MCM.				cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292)	MCM8-MCM9 complex (GO:0097362)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.P354R(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194)		CCCTGTGCCAGGATCCCCAAC	0.378																																						uc003pyh.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1060-1062)CCT>CGT		minichromosome maintenance complex component 9							87.0	78.0	81.0					6																	119232904		2203	4300	6503	SO:0001583	missense	254394				DNA replication		ATP binding|DNA binding|nucleoside-triphosphatase activity	g.chr6:119232904G>C	BC031658	CCDS5121.1, CCDS56447.1	6q22.31	2009-11-16	2007-04-04	2007-04-04	ENSG00000111877	ENSG00000111877			21484	protein-coding gene	gene with protein product		610098	"""minichromosome maintenance deficient domain containing 1"", ""chromosome 6 open reading frame 61"""	MCMDC1, C6orf61		16226853, 15850810, 16495042	Standard	NM_153255		Approved	MGC35304, dJ329L24.3, FLJ20170	uc021zeh.1	Q9NXL9	OTTHUMG00000015468	ENST00000316316.6:c.1061C>G	6.37:g.119232904G>C	ENSP00000314505:p.Pro354Arg						p.P354R	NM_153255	NP_694987	Q9NXL9	MCM9_HUMAN		GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194)	7	1324	-		all_cancers(87;0.122)|all_epithelial(87;0.179)	354			MCM.|ATP (Potential).		B4DR30|B9DI77|Q2KHJ0|Q8N5S5|Q9HCV5	Missense_Mutation	SNP	ENST00000316316.6	37	c.1061C>G	CCDS56447.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.827252	0.90955	.	.	ENSG00000111877	ENST00000316316;ENST00000316068	T;T	0.15718	2.4;2.4	5.85	5.85	0.93711	.	.	.	.	.	T	0.62732	0.2452	H	0.99764	4.76	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.80725	-0.1254	9	0.87932	D	0	.	20.1731	0.98165	0.0:0.0:1.0:0.0	.	354	Q9NXL9-2	.	R	354	ENSP00000314505:P354R;ENSP00000312870:P354R	ENSP00000312870:P354R	P	-	2	0	MCM9	119274603	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	9.053000	0.93860	2.768000	0.95171	0.655000	0.94253	CCT		PASS	0.378	MCM9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042005.4	NM_153255		13	51	13	51	---	---	---	---
HIVEP2	3097	broad.mit.edu	37	6	143092297	143092297	+	Silent	SNP	T	T	C			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr6:143092297T>C	ENST00000367604.1	-	4	4218	c.3579A>G	c.(3577-3579)caA>caG	p.Q1193Q	HIVEP2_ENST00000012134.2_Silent_p.Q1193Q|HIVEP2_ENST00000367603.2_Silent_p.Q1193Q			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1193					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q1193Q(1)		NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GAATTGTCTCTTGATGTGGAA	0.433																																					Esophageal Squamous(107;843 1510 13293 16805 42198)	uc003qjd.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(3577-3579)CAA>CAG		human immunodeficiency virus type I enhancer							183.0	186.0	185.0					6																	143092297		2021	4172	6193	SO:0001819	synonymous_variant	3097				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:143092297T>C	M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"""Zinc fingers, C2H2-type"""	4921	protein-coding gene	gene with protein product	"""c-myc intron binding protein 1"""	143054	"""human immunodeficiency virus type I enhancer-binding protein 2"""			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.3579A>G	6.37:g.143092297T>C							p.Q1193Q	NM_006734	NP_006725	P31629	ZEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)	5	4322	-			1193					Q02646|Q5THT5|Q9NS05	Silent	SNP	ENST00000367604.1	37	c.3579A>G	CCDS43510.1																																																																																				PASS	0.433	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1			5	210	5	210	---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152671350	152671350	+	Nonsense_Mutation	SNP	C	C	A			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr6:152671350C>A	ENST00000367255.5	-	72	12455	c.11854G>T	c.(11854-11856)Gag>Tag	p.E3952*	SYNE1_ENST00000265368.4_Nonsense_Mutation_p.E3952*|SYNE1_ENST00000423061.1_Intron|SYNE1_ENST00000448038.1_Intron|SYNE1_ENST00000341594.5_Nonsense_Mutation_p.E3876*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3952					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.E3952*(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTGCTTGTCTCCAGGAGGTCA	0.542										HNSCC(10;0.0054)																												uc010kiw.2																			2	Substitution - Nonsense(2)		lung(2)	central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(11854-11856)GAG>TAG		spectrin repeat containing, nuclear envelope 1							115.0	101.0	106.0					6																	152671350		2203	4300	6503	SO:0001587	stop_gained	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152671350C>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.11854G>T	6.37:g.152671350C>A	ENSP00000356224:p.Glu3952*	HNSCC(10;0.0054)				SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Nonsense_Mutation_p.E3952*|SYNE1_uc010kja.1_Nonsense_Mutation_p.E657*	p.E3952*	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	72	12456	-		Ovarian(120;0.0955)	3952			Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Nonsense_Mutation	SNP	ENST00000367255.5	37	c.11854G>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	55	23.916034	0.99958	.	.	ENSG00000131018	ENST00000367255;ENST00000265368;ENST00000341594	.	.	.	5.93	5.07	0.68467	.	0.098597	0.44285	D	0.000470	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	.	15.3251	0.74154	0.0:0.9332:0.0:0.0668	.	.	.	.	X	3952;3952;3876	.	ENSP00000265368:E3952X	E	-	1	0	SYNE1	152713043	1.000000	0.71417	0.997000	0.53966	0.213000	0.24496	3.882000	0.56160	1.528000	0.49103	0.655000	0.94253	GAG		PASS	0.542	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		28	79	28	79	---	---	---	---
EIF3B	8662	broad.mit.edu	37	7	2402714	2402714	+	Silent	SNP	G	G	T	rs370385949		TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr7:2402714G>T	ENST00000360876.4	+	4	878	c.822G>T	c.(820-822)acG>acT	p.T274T	EIF3B_ENST00000397011.2_Silent_p.T274T	NM_001037283.1	NP_001032360.1			eukaryotic translation initiation factor 3, subunit B									p.T274T(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		GGTATATGACGATCAGTGACG	0.532																																						uc003slx.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(820-822)ACG>ACT		eukaryotic translation initiation factor 3,		C	,	0,4406		0,0,2203	192.0	201.0	198.0		822,822	-11.6	0.1	7		198	1,8599		0,1,4299	no	coding-synonymous,coding-synonymous	EIF3B	NM_001037283.1,NM_003751.3	,	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	,	274/815,274/815	2402714	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8662				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity	g.chr7:2402714G>T	U62583	CCDS5332.1	7p22	2013-02-12	2007-07-27	2007-07-27	ENSG00000106263	ENSG00000106263		"""RNA binding motif (RRM) containing"""	3280	protein-coding gene	gene with protein product		603917	"""eukaryotic translation initiation factor 3, subunit 9 eta, 116kDa"""	EIF3S9		8995410	Standard	NM_001037283		Approved	PRT1, eIF3b	uc003sly.3	P55884	OTTHUMG00000022839	ENST00000360876.4:c.822G>T	7.37:g.2402714G>T						EIF3B_uc003sly.2_Silent_p.T274T|EIF3B_uc003slz.1_Silent_p.T235T|EIF3B_uc003sma.2_Silent_p.T2T	p.T274T	NM_003751	NP_003742	P55884	EIF3B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)	4	905	+		Ovarian(82;0.0253)	274			Sufficient for interaction with EIF3E.|Sufficient for interaction with EIF3J.			Silent	SNP	ENST00000360876.4	37	c.822G>T	CCDS5332.1																																																																																				PASS	0.532	EIF3B-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207006.1			23	293	23	293	---	---	---	---
CARD11	84433	broad.mit.edu	37	7	2956965	2956965	+	Missense_Mutation	SNP	G	G	A	rs142828146		TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr7:2956965G>A	ENST00000396946.4	-	20	3065	c.2662C>T	c.(2662-2664)Cgt>Tgt	p.R888C		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	888					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)	p.R881C(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CGCGAGAGACGGGGGCTGACC	0.557			Mis		DLBCL																																	uc003smv.2				Dom	yes		7	7p22	84433	Mis	"""caspase recruitment domain family, member 11"""			L			DLBCL		2	Substitution - Missense(2)	p.R881C(1)	lung(1)|skin(1)	haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1)	50						c.(2662-2664)CGT>TGT		caspase recruitment domain family, member 11							38.0	52.0	47.0					7																	2956965		2203	4300	6503	SO:0001583	missense	84433				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	g.chr7:2956965G>A	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"""card-maguk protein 1"", ""bcl10-interacting maguk protein 3"""	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.2662C>T	7.37:g.2956965G>A	ENSP00000380150:p.Arg888Cys						p.R888C	NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	20	3066	-		Ovarian(82;0.0115)	888					A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	ENST00000396946.4	37	c.2662C>T	CCDS5336.2	.	.	.	.	.	.	.	.	.	.	G	19.66	3.868328	0.72065	.	.	ENSG00000198286	ENST00000396946	T	0.35421	1.31	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	T	0.39091	0.1065	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	D	0.67382	0.951	T	0.48559	-0.9025	10	0.48119	T	0.1	-28.6776	16.2412	0.82409	0.0:0.0:1.0:0.0	.	888	Q9BXL7	CAR11_HUMAN	C	888	ENSP00000380150:R888C	ENSP00000380150:R888C	R	-	1	0	CARD11	2923491	1.000000	0.71417	1.000000	0.80357	0.672000	0.39443	8.643000	0.91040	2.260000	0.74910	0.491000	0.48974	CGT		PASS	0.557	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415		13	90	13	90	---	---	---	---
SDK1	221935	broad.mit.edu	37	7	4247876	4247876	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr7:4247876G>T	ENST00000404826.2	+	37	5499	c.5360G>T	c.(5359-5361)gGa>gTa	p.G1787V	SDK1_ENST00000389531.3_Missense_Mutation_p.G1767V	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1787	Fibronectin type-III 11. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.G1787V(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GCCGGAGATGGACCTAAGAGT	0.617																																						uc003smx.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(3)|ovary(2)|skin(1)	6						c.(5359-5361)GGA>GTA		sidekick 1 precursor							62.0	63.0	63.0					7																	4247876		2203	4300	6503	SO:0001583	missense	221935				cell adhesion	integral to membrane		g.chr7:4247876G>T	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.5360G>T	7.37:g.4247876G>T	ENSP00000385899:p.Gly1787Val					SDK1_uc010kso.2_Missense_Mutation_p.G1043V|SDK1_uc003smy.2_Missense_Mutation_p.G274V	p.G1787V	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	37	5499	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	1787			Fibronectin type-III 11.		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	c.5360G>T	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	G	16.57	3.160397	0.57368	.	.	ENSG00000146555	ENST00000404826;ENST00000446104;ENST00000389531	T;T	0.63744	-0.06;-0.06	4.82	4.82	0.62117	Fibronectin, type III (5);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000003	D	0.88775	0.6528	H	0.99444	4.57	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.94137	0.7393	10	0.87932	D	0	.	17.9008	0.88902	0.0:0.0:1.0:0.0	.	1767;274;1787	F8W6X9;F2Z3E9;Q7Z5N4	.;.;SDK1_HUMAN	V	1787;35;1767	ENSP00000385899:G1787V;ENSP00000374182:G1767V	ENSP00000374182:G1767V	G	+	2	0	SDK1	4214402	1.000000	0.71417	0.995000	0.50966	0.093000	0.18481	9.687000	0.98667	2.224000	0.72417	0.655000	0.94253	GGA		PASS	0.617	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		4	60	4	60	---	---	---	---
SNX13	23161	broad.mit.edu	37	7	17874389	17874389	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr7:17874389T>C	ENST00000409389.1	-	14	1631	c.1459A>G	c.(1459-1461)Aga>Gga	p.R487G	SNX13_ENST00000428135.3_Missense_Mutation_p.R487G			Q9Y5W8	SNX13_HUMAN	sorting nexin 13	487	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	early endosome (GO:0005769)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)	p.R487G(1)		breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					AATACCTTTCTTTGAATGTCA	0.279																																						uc003stw.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|kidney(1)	3						c.(1459-1461)AGA>GGA		SubName: Full=Putative uncharacterized protein SNX13; SubName: Full=Sorting nexin 13, isoform CRA_g;							43.0	42.0	42.0					7																	17874389		1787	4046	5833	SO:0001583	missense	23161				cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity	g.chr7:17874389T>C	AF420470	CCDS47551.1	7p21.1	2008-03-11			ENSG00000071189	ENSG00000071189		"""Sorting nexins"""	21335	protein-coding gene	gene with protein product		606589				11485546, 11729322	Standard	NM_015132		Approved	RGS-PX1, KIAA0713	uc003stv.3	Q9Y5W8	OTTHUMG00000152730	ENST00000409389.1:c.1459A>G	7.37:g.17874389T>C	ENSP00000386705:p.Arg487Gly					SNX13_uc003stv.2_Missense_Mutation_p.R487G|SNX13_uc010kuc.2_Missense_Mutation_p.R284G	p.R487G			Q9Y5W8	SNX13_HUMAN			14	1672	-	Lung NSC(10;0.0261)|all_lung(11;0.0521)		487			RGS.		B2RCI9|O94821|Q8WVZ2|Q8WXH8	Missense_Mutation	SNP	ENST00000409389.1	37	c.1459A>G		.	.	.	.	.	.	.	.	.	.	T	15.13	2.741829	0.49151	.	.	ENSG00000071189	ENST00000409389;ENST00000428135;ENST00000242044	T;T	0.02015	4.5;4.5	5.12	3.96	0.45880	.	0.084638	0.85682	D	0.000000	T	0.03915	0.0110	L	0.44542	1.39	0.80722	D	1	P;P;P	0.52170	0.897;0.881;0.951	P;P;B	0.48166	0.498;0.569;0.434	T	0.55302	-0.8162	10	0.41790	T	0.15	-8.9551	11.1113	0.48235	0.0:0.0732:0.0:0.9268	.	284;487;487	B3KN60;B8ZZT9;Q9Y5W8-2	.;.;.	G	487;487;535	ENSP00000386705:R487G;ENSP00000398789:R487G	ENSP00000242044:R535G	R	-	1	2	SNX13	17840914	1.000000	0.71417	0.974000	0.42286	0.340000	0.28889	7.372000	0.79612	0.893000	0.36288	-0.451000	0.05528	AGA		PASS	0.279	SNX13-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000327608.1	NM_015132		5	46	5	46	---	---	---	---
CCDC129	223075	broad.mit.edu	37	7	31690783	31690783	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr7:31690783A>G	ENST00000407970.3	+	12	2649	c.2611A>G	c.(2611-2613)Aag>Gag	p.K871E	CCDC129_ENST00000409210.1_Missense_Mutation_p.K779E|CCDC129_ENST00000451887.2_Missense_Mutation_p.K897E|CCDC129_ENST00000319386.3_Missense_Mutation_p.K723E	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	871								p.K723E(1)|p.K871E(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						GGAAGCCATGAAGACGATATG	0.478																																						uc003tcj.1																			2	Substitution - Missense(2)		lung(2)		0						c.(2611-2613)AAG>GAG		coiled-coil domain containing 129							114.0	108.0	110.0					7																	31690783		2203	4300	6503	SO:0001583	missense	223075							g.chr7:31690783A>G	AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.2611A>G	7.37:g.31690783A>G	ENSP00000384416:p.Lys871Glu					CCDC129_uc011kad.1_Missense_Mutation_p.K881E|CCDC129_uc003tci.1_Missense_Mutation_p.K722E|CCDC129_uc011kae.1_Missense_Mutation_p.K897E|CCDC129_uc003tck.1_Missense_Mutation_p.K779E	p.K871E	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN			12	3604	+			871					A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Missense_Mutation	SNP	ENST00000407970.3	37	c.2611A>G	CCDS5435.2	.	.	.	.	.	.	.	.	.	.	A	18.40	3.615262	0.66672	.	.	ENSG00000180347	ENST00000319386;ENST00000407970;ENST00000451887;ENST00000538406;ENST00000409210	T;T;T;T	0.37058	1.22;1.22;1.22;1.22	5.52	5.52	0.82312	.	0.000000	0.53938	D	0.000048	T	0.56352	0.1979	M	0.71581	2.175	0.22171	N	0.999319	D;D;D;D	0.63880	0.99;0.987;0.987;0.993	D;P;P;P	0.65684	0.937;0.889;0.889;0.879	T	0.54636	-0.8264	10	0.87932	D	0	-17.9154	12.0295	0.53390	1.0:0.0:0.0:0.0	.	897;881;871;723	F5H3V5;F5H2J8;Q6ZRS4;Q6ZRS4-2	.;.;CC129_HUMAN;.	E	723;871;897;881;779	ENSP00000313062:K723E;ENSP00000384416:K871E;ENSP00000395835:K897E;ENSP00000387214:K779E	ENSP00000313062:K723E	K	+	1	0	CCDC129	31657308	1.000000	0.71417	0.865000	0.33974	0.755000	0.42902	3.479000	0.53165	2.100000	0.63781	0.477000	0.44152	AAG		PASS	0.478	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300		3	130	3	130	---	---	---	---
ELMO1	9844	broad.mit.edu	37	7	37264597	37264597	+	Silent	SNP	C	C	A			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr7:37264597C>A	ENST00000310758.4	-	9	1235	c.588G>T	c.(586-588)tcG>tcT	p.S196S	ELMO1_ENST00000442504.1_Silent_p.S196S|ELMO1_ENST00000448602.1_Silent_p.S196S	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	196					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)	p.S196S(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						GCTGCAGGATCGAGATGTCTA	0.502																																						uc003tfk.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(2)|upper_aerodigestive_tract(1)	6						c.(586-588)TCG>TCT		engulfment and cell motility 1 isoform 1							112.0	94.0	100.0					7																	37264597		2203	4300	6503	SO:0001819	synonymous_variant	9844				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	g.chr7:37264597C>A	AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"""Engulfment and cell motility proteins"""	16286	protein-coding gene	gene with protein product		606420	"""engulfment and cell motility 1 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.588G>T	7.37:g.37264597C>A						ELMO1_uc011kbc.1_Silent_p.S100S|ELMO1_uc010kxg.1_Silent_p.S196S	p.S196S	NM_014800	NP_055615	Q92556	ELMO1_HUMAN			9	895	-			196					A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Silent	SNP	ENST00000310758.4	37	c.588G>T	CCDS5449.1																																																																																				PASS	0.502	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219830.4	NM_130442		12	67	12	67	---	---	---	---
AEBP1	165	broad.mit.edu	37	7	44150570	44150570	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr7:44150570T>A	ENST00000223357.3	+	13	1849	c.1544T>A	c.(1543-1545)gTg>gAg	p.V515E	AEBP1_ENST00000450684.2_Missense_Mutation_p.V58E|MIR4649_ENST00000582839.1_RNA	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	515	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.|Interaction with MAPK1 and MAPK3. {ECO:0000250}.|Required for DNA-binding and interaction with NFKBIA. {ECO:0000250}.				cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.V515E(1)		NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						CCAGAGCCGGTGGTGGCTCGT	0.632																																						uc003tkb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1543-1545)GTG>GAG		adipocyte enhancer binding protein 1 precursor							91.0	84.0	86.0					7																	44150570		2203	4300	6503	SO:0001583	missense	165				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:44150570T>A	D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"""aortic carboxypeptidase-like protein"", ""adipocyte enhancer binding protein 1"""	602981	"""AE-binding protein 1"""			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.1544T>A	7.37:g.44150570T>A	ENSP00000223357:p.Val515Glu					AEBP1_uc003tkc.3_Missense_Mutation_p.V58E|AEBP1_uc003tkd.2_5'Flank	p.V515E	NM_001129	NP_001120	Q8IUX7	AEBP1_HUMAN			13	1849	+			515			Required for DNA-binding and interaction with NFKBIA (By similarity).|F5/8 type C.|Interaction with MAPK1 and MAPK3 (By similarity).		Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Missense_Mutation	SNP	ENST00000223357.3	37	c.1544T>A	CCDS5476.1	.	.	.	.	.	.	.	.	.	.	T	26.8	4.768121	0.90020	.	.	ENSG00000106624	ENST00000223357;ENST00000450684	D;D	0.98666	-5.06;-5.06	5.64	5.64	0.86602	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.369790	0.28135	N	0.016462	D	0.98902	0.9628	M	0.86864	2.845	0.48185	D	0.999602	P;D	0.55605	0.902;0.972	B;P	0.59288	0.439;0.855	D	0.99429	1.0935	10	0.72032	D	0.01	-30.8014	11.3247	0.49442	0.1362:0.0:0.0:0.8638	.	58;515	Q8IUX7-2;Q8IUX7	.;AEBP1_HUMAN	E	515;58	ENSP00000223357:V515E;ENSP00000398878:V58E	ENSP00000223357:V515E	V	+	2	0	AEBP1	44117095	1.000000	0.71417	0.932000	0.37286	0.974000	0.67602	5.859000	0.69539	2.160000	0.67779	0.528000	0.53228	GTG		PASS	0.632	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250993.2	NM_001129		11	69	11	69	---	---	---	---
ABCA13	154664	broad.mit.edu	37	7	48313943	48313943	+	Silent	SNP	T	T	C			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr7:48313943T>C	ENST00000435803.1	+	17	4704	c.4680T>C	c.(4678-4680)ggT>ggC	p.G1560G		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1560					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.G1505G(1)|p.G1560G(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTGTAAAAGGTATTTACTTTA	0.313																																						uc003toq.2																			2	Substitution - coding silent(2)		lung(2)	ovary(5)|central_nervous_system(4)|skin(1)	10						c.(4678-4680)GGT>GGC		ATP binding cassette, sub-family A (ABC1),							59.0	61.0	60.0					7																	48313943		1801	4060	5861	SO:0001819	synonymous_variant	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48313943T>C	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.4680T>C	7.37:g.48313943T>C						ABCA13_uc010kyr.2_Silent_p.G1063G	p.G1560G	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			17	4705	+			1560					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	ENST00000435803.1	37	c.4680T>C	CCDS47584.1																																																																																				PASS	0.313	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		17	117	17	117	---	---	---	---
CRCP	27297	broad.mit.edu	37	7	65617275	65617275	+	Silent	SNP	A	A	G			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr7:65617275A>G	ENST00000395326.3	+	6	736	c.378A>G	c.(376-378)gcA>gcG	p.A126A	CRCP_ENST00000431089.2_Silent_p.A119A|CRCP_ENST00000492264.1_3'UTR|CRCP_ENST00000398684.2_Silent_p.A49A|RP5-1132H15.1_ENST00000435524.2_RNA|CRCP_ENST00000338592.5_Silent_p.A93A|CRCP_ENST00000415001.2_Silent_p.A93A	NM_014478.4	NP_055293.1	O75575	RPC9_HUMAN	CGRP receptor component	126					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|neuropeptide signaling pathway (GO:0007218)|transcription from RNA polymerase III promoter (GO:0006383)	acrosomal vesicle (GO:0001669)|DNA polymerase III complex (GO:0009360)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcitonin gene-related polypeptide receptor activity (GO:0001635)|DNA-directed RNA polymerase activity (GO:0003899)|nucleotide binding (GO:0000166)	p.A126A(2)|p.A119A(1)		cervix(1)|kidney(1)|lung(4)	6						TTCTGCCTGCAGAGCCAGAGG	0.527																																						uc003tus.2																			3	Substitution - coding silent(3)		lung(3)		0						c.(376-378)GCA>GCG		calcitonin gene-related peptide-receptor							79.0	69.0	73.0					7																	65617275		2203	4300	6503	SO:0001819	synonymous_variant	27297				acrosome reaction|innate immune response|response to virus|transcription from RNA polymerase III promoter	DNA polymerase III complex|nucleus|plasma membrane	calcitonin receptor activity|DNA-directed RNA polymerase activity|nucleotide binding	g.chr7:65617275A>G	AF073792	CCDS5532.1, CCDS47599.1, CCDS47600.1, CCDS55116.1	7q11.1	2009-01-14			ENSG00000241258	ENSG00000241258			17888	protein-coding gene	gene with protein product	"""calcitonin gene-related peptide-receptor component protein"""	606121				8622957, 10067875, 12482973	Standard	NM_014478		Approved	CGRP-RCP, RCP, RCP9	uc011kdw.2	O75575	OTTHUMG00000129519	ENST00000395326.3:c.378A>G	7.37:g.65617275A>G						CRCP_uc003tuv.2_RNA|CRCP_uc011kdw.1_Silent_p.A119A|CRCP_uc003tut.2_Silent_p.A93A|CRCP_uc003tuu.2_Silent_p.A49A	p.A126A	NM_014478	NP_055293	O75575	RPC9_HUMAN			6	523	+			126					A8MUZ4|A8MW23|B2R4H4|B4E198|Q3KRA3|Q5HYF1|Q8IXL4	Silent	SNP	ENST00000395326.3	37	c.378A>G	CCDS5532.1																																																																																				PASS	0.527	CRCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251697.2	NM_014478		10	39	10	39	---	---	---	---
TYW1	55253	broad.mit.edu	37	7	66463151	66463152	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr7:66463151_66463152GG>TT	ENST00000359626.5	+	2	268_269	c.104_105GG>TT	c.(103-105)tGG>tTT	p.W35F	TYW1_ENST00000491969.1_3'UTR|SBDS_ENST00000246868.2_5'Flank	NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	35					tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)	p.W35L(1)|p.W35F(1)|p.W35C(1)		breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				ATTAGCCTTTGGATTTGTGTCC	0.347																																						uc003tvn.2																			3	Substitution - Missense(3)		lung(3)	skin(1)	1						c.(103-105)TGG>TTG|c.(103-105)TGG>TGT		radical S-adenosyl methionine and flavodoxin																																				SO:0001583	missense	55253				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:66463151G>T|g.chr7:66463152G>T	AK001762	CCDS5538.1	7q11.21	2007-11-29	2007-11-29	2007-11-29	ENSG00000198874	ENSG00000198874			25598	protein-coding gene	gene with protein product	"""tRNA-yW synthesizing protein 1 homolog A (S. cerevisiae)"""	611243	"""radical S-adenosyl methionine and flavodoxin domains 1"""	RSAFD1		16162496, 17150819	Standard	NM_018264		Approved	FLJ10900, MGC23001, MGC60291, YPL207W, TYW1A	uc003tvn.4	Q9NV66	OTTHUMG00000129723	Exception_encountered	7.37:g.66463151_66463152delinsTT	ENSP00000352645:p.Trp35Phe					SBDS_uc003tvm.1_5'Flank|TYW1_uc010lai.2_RNA	p.W35L|p.W35C	NM_018264	NP_060734	Q9NV66	TYW1_HUMAN			2	253|254	+		Lung NSC(55;0.0846)|all_lung(88;0.183)	35					Q6PJG8|Q75MG8|Q75MN3|Q86V12|Q8IVS7|Q9H9C4	Missense_Mutation	SNP	ENST00000359626.5	37	c.104G>T|c.105G>T	CCDS5538.1																																																																																				PASS	0.347	TYW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251932.2	NM_018264		17|18	159|160	17	159	---	---	---	---
CACNA2D1	781	broad.mit.edu	37	7	81589146	81589146	+	Splice_Site	SNP	C	C	A			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr7:81589146C>A	ENST00000356253.5	-	37	3258		c.e37-1		CACNA2D1_ENST00000535308.1_Splice_Site|CACNA2D1_ENST00000356860.3_Splice_Site			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1						calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.?(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	ATGAAAGATTCTGCAAAATAA	0.313																																						uc003uhr.1																			1	Unknown(1)		lung(1)	ovary(5)|pancreas(1)	6						c.e37-1		calcium channel, voltage-dependent, alpha	Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)						59.0	55.0	57.0					7																	81589146		2203	4300	6503	SO:0001630	splice_region_variant	781					voltage-gated calcium channel complex	metal ion binding	g.chr7:81589146C>A	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	1399	protein-coding gene	gene with protein product		114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.3003-1G>T	7.37:g.81589146C>A						CACNA2D1_uc011kgy.1_Splice_Site_p.R201_splice	p.R989_splice	NM_000722	NP_000713	P54289	CA2D1_HUMAN			37	3223	-								Q17R45|Q9UD80|Q9UD81|Q9UD82	Splice_Site	SNP	ENST00000356253.5	37	c.2967_splice		.	.	.	.	.	.	.	.	.	.	C	13.01	2.109797	0.37242	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253;ENST00000535308	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3004	0.94141	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CACNA2D1	81427082	1.000000	0.71417	1.000000	0.80357	0.158000	0.22134	7.294000	0.78760	2.557000	0.86248	0.650000	0.86243	.		PASS	0.313	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding			Intron	8	31	8	31	---	---	---	---
MCM7	4176	broad.mit.edu	37	7	99694927	99694927	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr7:99694927G>A	ENST00000303887.5	-	10	1843	c.1198C>T	c.(1198-1200)Cgc>Tgc	p.R400C	MCM7_ENST00000354230.3_Missense_Mutation_p.R224C|MCM7_ENST00000343023.6_Intron	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	400	MCM.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to epidermal growth factor stimulus (GO:0071364)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of phosphorylation (GO:0042325)|response to drug (GO:0042493)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)	p.R400C(1)|p.R224C(1)		endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TACTTACTGCGAGGCGCCAGT	0.512																																						uc003usw.1																			2	Substitution - Missense(2)		lung(2)		0						c.(1198-1200)CGC>TGC		minichromosome maintenance complex component 7	Atorvastatin(DB01076)						89.0	76.0	81.0					7																	99694927		2203	4300	6503	SO:0001583	missense	4176				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding	g.chr7:99694927G>A		CCDS5683.1, CCDS5684.1	7q21.3-q22.1	2014-06-12	2007-04-04		ENSG00000166508	ENSG00000166508			6950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 104"""	600592	"""minichromosome maintenance deficient (S. cerevisiae) 7"", ""MCM7 minichromosome maintenance deficient 7 (S. cerevisiae)"""	MCM2		7842741	Standard	NM_005916		Approved	CDC47, PPP1R104	uc003usw.1	P33993	OTTHUMG00000154671	ENST00000303887.5:c.1198C>T	7.37:g.99694927G>A	ENSP00000307288:p.Arg400Cys					MCM7_uc003usv.1_Missense_Mutation_p.R224C|MCM7_uc003usx.1_Missense_Mutation_p.R224C	p.R400C	NM_005916	NP_005907	P33993	MCM7_HUMAN			10	1708	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		400			MCM.		A4D2A1|A4D2A2|E9PGN9|Q15076|Q96D34|Q96GL1	Missense_Mutation	SNP	ENST00000303887.5	37	c.1198C>T	CCDS5683.1	.	.	.	.	.	.	.	.	.	.	G	16.60	3.167627	0.57476	.	.	ENSG00000166508	ENST00000303887;ENST00000542483;ENST00000362082;ENST00000354230	T;T	0.12465	2.68;2.68	4.97	4.97	0.65823	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.58552	0.2130	H	0.99516	4.605	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77848	-0.2435	10	0.87932	D	0	.	15.7858	0.78300	0.0:0.0:1.0:0.0	.	400	P33993	MCM7_HUMAN	C	400;337;293;224	ENSP00000307288:R400C;ENSP00000346171:R224C	ENSP00000307288:R400C	R	-	1	0	MCM7	99532863	1.000000	0.71417	0.999000	0.59377	0.257000	0.26127	4.020000	0.57189	2.576000	0.86940	0.655000	0.94253	CGC		PASS	0.512	MCM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336534.3			5	45	5	45	---	---	---	---
MUC17	140453	broad.mit.edu	37	7	100682143	100682143	+	Silent	SNP	C	C	T			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr7:100682143C>T	ENST00000306151.4	+	3	7510	c.7446C>T	c.(7444-7446)gaC>gaT	p.D2482D		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2482	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.D2482D(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CTCCTGTTGACACCAGCACAC	0.517																																						uc003uxp.1																			1	Substitution - coding silent(1)		lung(1)	ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(7444-7446)GAC>GAT		mucin 17 precursor							303.0	302.0	302.0					7																	100682143		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100682143C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.7446C>T	7.37:g.100682143C>T						MUC17_uc010lho.1_RNA	p.D2482D	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	7499	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2482			Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|39.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.7446C>T	CCDS34711.1																																																																																				PASS	0.517	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		48	476	48	476	---	---	---	---
RELN	5649	broad.mit.edu	37	7	103113314	103113314	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr7:103113314T>C	ENST00000428762.1	-	65	10487	c.10328A>G	c.(10327-10329)cAt>cGt	p.H3443R	RELN_ENST00000424685.2_Missense_Mutation_p.H3443R|RELN_ENST00000343529.5_Missense_Mutation_p.H3441R|CTB-107G13.1_ENST00000422488.1_RNA	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	3443	Arg-rich (basic).				associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.H3441R(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TCTGAGCCCATGTTGTCGTGA	0.383																																					NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(10327-10329)CAT>CGT		reelin isoform a							176.0	165.0	169.0					7																	103113314		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103113314T>C		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.10328A>G	7.37:g.103113314T>C	ENSP00000392423:p.His3443Arg					RELN_uc010liz.2_Missense_Mutation_p.H3441R	p.H3443R	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	66	10488	-			3443			Arg-rich (basic).		A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.10328A>G	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	T	15.52	2.857365	0.51376	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000424828	T;T;T	0.78364	-1.17;-1.17;-1.17	5.75	5.75	0.90469	.	0.208977	0.41938	D	0.000791	T	0.76004	0.3927	N	0.08118	0	0.45733	D	0.998632	B;P	0.50156	0.0;0.932	B;P	0.61397	0.001;0.888	T	0.81276	-0.1006	10	0.59425	D	0.04	.	16.0623	0.80847	0.0:0.0:0.0:1.0	.	3441;3443	P78509-2;P78509	.;RELN_HUMAN	R	3443;3441;3443;960	ENSP00000392423:H3443R;ENSP00000345694:H3441R;ENSP00000388446:H3443R	ENSP00000345694:H3441R	H	-	2	0	RELN	102900550	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.403000	0.52615	2.195000	0.70347	0.533000	0.62120	CAT		PASS	0.383	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		13	93	13	93	---	---	---	---
CPED1	79974	broad.mit.edu	37	7	120629925	120629925	+	Splice_Site	SNP	G	G	T			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr7:120629925G>T	ENST00000310396.5	+	2	716		c.e2+1		CPED1_ENST00000495036.1_Splice_Site|CPED1_ENST00000450913.2_Splice_Site|CPED1_ENST00000340646.5_Splice_Site	NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1							endoplasmic reticulum (GO:0005783)		p.?(1)									AACCAGAAAGGTAAGACTCTC	0.428																																						uc003vjq.3																			1	Unknown(1)		lung(1)	ovary(4)|large_intestine(2)|skin(2)|pancreas(1)	9						c.e2+1		hypothetical protein LOC79974 isoform 1							83.0	90.0	88.0					7																	120629925		2203	4300	6503	SO:0001630	splice_region_variant	79974					endoplasmic reticulum		g.chr7:120629925G>T		CCDS34739.1, CCDS47690.1	7q31.31	2012-06-12	2012-06-12	2012-06-12	ENSG00000106034	ENSG00000106034			26159	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 58"""	C7orf58		20056006	Standard	NM_024913		Approved	FLJ21986	uc003vjq.4	A4D0V7	OTTHUMG00000156982	ENST00000310396.5:c.249+1G>T	7.37:g.120629925G>T						C7orf58_uc003vjr.1_Splice_Site_p.K83_splice|C7orf58_uc003vjs.3_Splice_Site_p.K83_splice	p.K83_splice	NM_024913	NP_079189	A4D0V7	CG058_HUMAN			2	696	+	all_neural(327;0.117)							A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Splice_Site	SNP	ENST00000310396.5	37	c.249_splice	CCDS34739.1	.	.	.	.	.	.	.	.	.	.	G	17.59	3.426453	0.62733	.	.	ENSG00000106034	ENST00000310396;ENST00000428526;ENST00000450913;ENST00000340646	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8458	0.85980	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C7orf58	120417161	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	5.719000	0.68462	2.669000	0.90835	0.655000	0.94253	.		PASS	0.428	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346959.1	NM_024913	Intron	5	177	5	177	---	---	---	---
PTPRZ1	5803	broad.mit.edu	37	7	121684484	121684484	+	Nonsense_Mutation	SNP	T	T	G			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr7:121684484T>G	ENST00000393386.2	+	23	6357	c.5946T>G	c.(5944-5946)taT>taG	p.Y1982*	PTPRZ1_ENST00000449182.1_Nonsense_Mutation_p.Y1115*	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1982	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.Y1982*(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						AGGAGCAATATGTCTTCATTC	0.388																																						uc003vjy.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						c.(5944-5946)TAT>TAG		protein tyrosine phosphatase, receptor-type,							184.0	170.0	175.0					7																	121684484		2203	4300	6503	SO:0001587	stop_gained	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121684484T>G	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.5946T>G	7.37:g.121684484T>G	ENSP00000377047:p.Tyr1982*					PTPRZ1_uc003vjz.2_Nonsense_Mutation_p.Y1115*|PTPRZ1_uc011knt.1_Nonsense_Mutation_p.Y572*	p.Y1982*	NM_002851	NP_002842	P23471	PTPRZ_HUMAN			23	6341	+			1982			Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.		A4D0W5|C9JFM0|O76043|Q9UDR6	Nonsense_Mutation	SNP	ENST00000393386.2	37	c.5946T>G	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	T	40	8.024237	0.98616	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	.	.	.	5.65	-3.85	0.04243	.	0.000000	0.64402	D	0.000016	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.7153	0.77663	0.0:0.5731:0.0:0.4269	.	.	.	.	X	1982;1115	.	ENSP00000377047:Y1982X	Y	+	3	2	PTPRZ1	121471720	0.168000	0.22989	0.957000	0.39632	0.819000	0.46315	-0.308000	0.08156	-0.729000	0.04875	-0.256000	0.11100	TAT		PASS	0.388	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		19	74	19	74	---	---	---	---
GPR37	2861	broad.mit.edu	37	7	124386948	124386948	+	Silent	SNP	G	G	A			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr7:124386948G>A	ENST00000303921.2	-	2	2123	c.1473C>T	c.(1471-1473)aaC>aaT	p.N491N		NM_005302.3	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	491					dopamine biosynthetic process (GO:0042416)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotion involved in locomotory behavior (GO:0031987)|positive regulation of dopamine metabolic process (GO:0045964)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ubiquitin ligase complex (GO:0000151)	G-protein coupled receptor activity (GO:0004930)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|ubiquitin protein ligase binding (GO:0031625)	p.N491N(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CTACTGTACAGTTCATCTGAC	0.448																																						uc003vli.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|lung(1)|central_nervous_system(1)	3						c.(1471-1473)AAC>AAT		G protein-coupled receptor 37 precursor							106.0	102.0	103.0					7																	124386948		2203	4300	6503	SO:0001819	synonymous_variant	2861					endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity	g.chr7:124386948G>A		CCDS5792.1	7q31	2012-08-21			ENSG00000170775	ENSG00000170775		"""GPCR / Class A : Orphans"""	4494	protein-coding gene	gene with protein product		602583				9339362	Standard	NM_005302		Approved	EDNRBL, hET(B)R-LP, PAELR	uc003vli.4	O15354	OTTHUMG00000157197	ENST00000303921.2:c.1473C>T	7.37:g.124386948G>A							p.N491N	NM_005302	NP_005293	O15354	GPR37_HUMAN			2	2124	-			491			Cytoplasmic (Potential).		A4D0Y6|O00348|O14768|Q8TD39	Silent	SNP	ENST00000303921.2	37	c.1473C>T	CCDS5792.1																																																																																				PASS	0.448	GPR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347873.1	NM_005302		10	108	10	108	---	---	---	---
CTAGE6	340307	broad.mit.edu	37	7	143453398	143453398	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr7:143453398G>C	ENST00000470691.2	-	1	1391	c.1354C>G	c.(1354-1356)Caa>Gaa	p.Q452E	RNU6-267P_ENST00000516714.1_RNA	NM_178561.4	NP_848656.2	Q86UF2	CTGE6_HUMAN	CTAGE family, member 6	452						integral component of membrane (GO:0016021)						Melanoma(164;0.0903)					ACCTGCTTTTGATAAAAATGA	0.413																																						uc003wdk.3																			0					0						c.(1354-1356)CAA>GAA		CTAGE family, member 6							31.0	29.0	30.0					7																	143453398		1738	3891	5629	SO:0001583	missense	340307					integral to membrane		g.chr7:143453398G>C	BC043153	CCDS64790.1	7q35	2013-05-22	2013-02-25	2013-02-25	ENSG00000271321	ENSG00000271321			28644	protein-coding gene	gene with protein product			"""CTAGE family, member 6, pseudogene"""	CTAGE6P		12477932	Standard	NM_178561		Approved	MGC41943	uc003wdk.4	Q86UF2	OTTHUMG00000157770	ENST00000470691.2:c.1354C>G	7.37:g.143453398G>C	ENSP00000474388:p.Gln452Glu					uc011ktn.1_Intron|uc011kto.1_Intron|uc011ktp.1_Intron|LOC154761_uc011ktq.1_Intron|LOC154761_uc011ktr.1_Intron|LOC154761_uc011kts.1_Intron|LOC154761_uc003wdj.1_Intron	p.Q452E	NM_178561	NP_848656	Q86UF2	CTGE6_HUMAN			1	1446	-	Melanoma(164;0.0903)		452			Potential.		A4FU29|Q3ZCM5	Missense_Mutation	SNP	ENST00000470691.2	37	c.1354C>G																																																																																					PASS	0.413	CTAGE6-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000349580.2	NM_178561		4	198	4	198	---	---	---	---
OR2A5	393046	broad.mit.edu	37	7	143748079	143748079	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr7:143748079C>G	ENST00000408906.2	+	1	619	c.585C>G	c.(583-585)aaC>aaG	p.N195K		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	195						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N195K(1)		cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					CCTGGCTCAACCAGGTGGTCA	0.572																																						uc011ktw.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(583-585)AAC>AAG		olfactory receptor, family 2, subfamily A,							154.0	156.0	155.0					7																	143748079		2006	4172	6178	SO:0001583	missense	393046				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143748079C>G	U86278	CCDS43668.1	7q35	2013-09-20	2003-11-24		ENSG00000221836	ENSG00000221836		"""GPCR / Class A : Olfactory receptors"""	8232	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily A, member 5"""	OR2A8, OR2A26		9500546	Standard	NM_012365		Approved	OR7-138, OR7-141	uc011ktw.2	Q96R48	OTTHUMG00000158006	ENST00000408906.2:c.585C>G	7.37:g.143748079C>G	ENSP00000386208:p.Asn195Lys						p.N195K	NM_012365	NP_036497	Q96R48	OR2A5_HUMAN			1	585	+	Melanoma(164;0.0783)		195			Extracellular (Potential).		B9EGX2|O43885|O43888	Missense_Mutation	SNP	ENST00000408906.2	37	c.585C>G	CCDS43668.1	.	.	.	.	.	.	.	.	.	.	C	16.02	3.003284	0.54254	.	.	ENSG00000221836	ENST00000408906	T	0.00198	8.57	5.25	2.41	0.29592	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34725	U	0.003731	T	0.00356	0.0011	L	0.58302	1.8	0.32752	N	0.50632	D	0.67145	0.996	D	0.68039	0.955	T	0.60444	-0.7262	10	0.87932	D	0	.	7.2551	0.26171	0.0:0.7197:0.0:0.2803	.	195	Q96R48	OR2A5_HUMAN	K	195	ENSP00000386208:N195K	ENSP00000386208:N195K	N	+	3	2	OR2A5	143379012	0.003000	0.15002	0.883000	0.34634	0.796000	0.44982	0.115000	0.15540	0.787000	0.33731	0.557000	0.71058	AAC		PASS	0.572	OR2A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349986.1			27	238	27	238	---	---	---	---
SSPO	23145	broad.mit.edu	37	7	149500666	149500666	+	RNA	SNP	C	C	T			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr7:149500666C>T	ENST00000378016.2	+	0	8067							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CAGGGGTGTCCTTCCTCCTGG	0.682																																						uc010lpk.2																			0					0						c.(8065-8067)TCC>TCT		SCO-spondin precursor																																						23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149500666C>T	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149500666C>T							p.S2689S	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		55	8067	+	Melanoma(164;0.165)|Ovarian(565;0.177)		2689					Q76B61	Silent	SNP	ENST00000378016.2	37	c.8067C>T																																																																																					PASS	0.682	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				3	21	3	21	---	---	---	---
KMT2C	58508	broad.mit.edu	37	7	152007083	152007083	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr7:152007083C>A	ENST00000262189.6	-	6	1035	c.817G>T	c.(817-819)Gtg>Ttg	p.V273L	KMT2C_ENST00000355193.2_Missense_Mutation_p.V273L	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	273					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.V273L(2)									GCTTTGTCCACGTTCACTAAC	0.393																																						uc003wla.2										N							medulloblastoma		2	Substitution - Missense(2)		lung(2)	large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.(817-819)GTG>TTG		myeloid/lymphoid or mixed-lineage leukemia 3							103.0	90.0	95.0					7																	152007083		2203	4300	6503	SO:0001583	missense	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:152007083C>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.817G>T	7.37:g.152007083C>A	ENSP00000262189:p.Val273Leu						p.V273L	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	6	1036	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	273					Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.817G>T	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.571544	0.86542	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	T;T	0.72725	-0.68;-0.68	5.78	5.78	0.91487	.	0.000000	0.41712	D	0.000828	T	0.81823	0.4904	L	0.50847	1.595	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.81084	-0.1093	10	0.52906	T	0.07	.	19.5978	0.95548	0.0:1.0:0.0:0.0	.	273	Q8NEZ4	MLL3_HUMAN	L	273	ENSP00000262189:V273L;ENSP00000347325:V273L	ENSP00000262189:V273L	V	-	1	0	MLL3	151638016	1.000000	0.71417	0.973000	0.42090	0.979000	0.70002	6.915000	0.75770	2.733000	0.93635	0.655000	0.94253	GTG		PASS	0.393	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			6	81	6	81	---	---	---	---
CSMD1	64478	broad.mit.edu	37	8	3266999	3266999	+	Missense_Mutation	SNP	C	C	A	rs201699633		TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr8:3266999C>A	ENST00000520002.1	-	14	2248	c.1693G>T	c.(1693-1695)Gtt>Ttt	p.V565F	CSMD1_ENST00000400186.3_Missense_Mutation_p.V565F|CSMD1_ENST00000539096.1_Missense_Mutation_p.V564F|CSMD1_ENST00000537824.1_Missense_Mutation_p.V564F|CSMD1_ENST00000602723.1_Missense_Mutation_p.V565F|CSMD1_ENST00000542608.1_Missense_Mutation_p.V564F|CSMD1_ENST00000602557.1_Missense_Mutation_p.V565F			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	565	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)		p.V564F(1)|p.V293fs*45(1)|p.V293F(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CAGGTGATAACTCTCTCCCCC	0.552																																						uc011kwk.1																			3	Substitution - Missense(2)|Deletion - Frameshift(1)		lung(2)|ovary(1)	breast(20)|large_intestine(5)	25						c.(1693-1695)GTT>TTT		CUB and Sushi multiple domains 1 precursor							48.0	48.0	48.0					8																	3266999		1952	4155	6107	SO:0001583	missense	64478					integral to membrane		g.chr8:3266999C>A			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.1693G>T	8.37:g.3266999C>A	ENSP00000430733:p.Val565Phe					CSMD1_uc011kwj.1_5'UTR	p.V565F	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	13	2083	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	565			Extracellular (Potential).|Sushi 3.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.1693G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.98|15.98	2.992786|2.992786	0.54041|0.54041	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000335551|ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	.|T;T;T;T;T	.|0.67345	.|-0.26;-0.26;-0.26;-0.26;-0.26	5.26|5.26	5.26|5.26	0.73747|0.73747	.|.	.|0.210963	.|0.34110	.|N	.|0.004244	T|T	0.68879|0.68879	0.3049|0.3049	L|L	0.35723|0.35723	1.085|1.085	0.34964|0.34964	D|D	0.752451|0.752451	.|D	.|0.76494	.|0.999	.|D	.|0.83275	.|0.996	T|T	0.71391|0.71391	-0.4607|-0.4607	5|10	.|0.22706	.|T	.|0.39	.|.	6.8469|6.8469	0.23992|0.23992	0.0:0.7838:0.0:0.2162|0.0:0.7838:0.0:0.2162	.|.	.|565	.|E5RIG2	.|.	I|F	44|565;565;427;564;564;564	.|ENSP00000383047:V565F;ENSP00000430733:V565F;ENSP00000441462:V564F;ENSP00000446243:V564F;ENSP00000441675:V564F	.|ENSP00000320445:V427F	S|V	-|-	2|1	0|0	CSMD1|CSMD1	3254406|3254406	0.744000|0.744000	0.28250|0.28250	0.233000|0.233000	0.24025|0.24025	0.954000|0.954000	0.61252|0.61252	3.193000|3.193000	0.50997|0.50997	2.443000|2.443000	0.82685|0.82685	0.573000|0.573000	0.79308|0.79308	AGT|GTT		PASS	0.552	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		4	24	4	24	---	---	---	---
SGCZ	137868	broad.mit.edu	37	8	13959960	13959960	+	Silent	SNP	G	G	T			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr8:13959960G>T	ENST00000382080.1	-	7	1384	c.669C>A	c.(667-669)gtC>gtA	p.V223V	SGCZ_ENST00000421524.2_Silent_p.V176V	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	210					membrane organization (GO:0061024)|muscle cell cellular homeostasis (GO:0046716)|muscle cell development (GO:0055001)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|sarcoglycan complex (GO:0016012)		p.V223V(1)		NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		CACTCACCTGGACCCCACGGG	0.478																																						uc003wwq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(667-669)GTC>GTA		sarcoglycan zeta							48.0	48.0	48.0					8																	13959960		2203	4300	6503	SO:0001819	synonymous_variant	137868				cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma		g.chr8:13959960G>T	AY028700	CCDS5992.2	8p22	2014-09-17	2010-04-21		ENSG00000185053	ENSG00000185053			14075	protein-coding gene	gene with protein product		608113				12189167	Standard	XM_006716287		Approved	ZSG1	uc003wwq.3	Q96LD1	OTTHUMG00000090827	ENST00000382080.1:c.669C>A	8.37:g.13959960G>T						SGCZ_uc010lss.2_Silent_p.V176V	p.V223V	NM_139167	NP_631906	Q96LD1	SGCZ_HUMAN		all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)	7	1329	-			210			Extracellular (Potential).		Q6REU0	Silent	SNP	ENST00000382080.1	37	c.669C>A	CCDS5992.2																																																																																				PASS	0.478	SGCZ-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207636.2	NM_139167		5	44	5	44	---	---	---	---
BIN3	55909	broad.mit.edu	37	8	22481752	22481752	+	Silent	SNP	G	G	A			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr8:22481752G>A	ENST00000276416.6	-	7	531	c.463C>T	c.(463-465)Ctg>Ttg	p.L155L	BIN3_ENST00000519513.1_Silent_p.L101L|BIN3_ENST00000399977.4_Silent_p.L107L|BIN3_ENST00000519335.1_5'UTR	NM_018688.4	NP_061158.1	Q9NQY0	BIN3_HUMAN	bridging integrator 3	155	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				actin filament organization (GO:0007015)|barrier septum assembly (GO:0000917)|cytokinesis (GO:0000910)|myoblast migration involved in skeletal muscle regeneration (GO:0014839)|protein localization (GO:0008104)|regulation of lamellipodium assembly (GO:0010591)|skeletal muscle fiber development (GO:0048741)|unidimensional cell growth (GO:0009826)	actin filament (GO:0005884)|cytoplasm (GO:0005737)	cytoskeletal adaptor activity (GO:0008093)	p.L155L(1)		kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	9		Prostate(55;0.0424)|Breast(100;0.102)|all_epithelial(46;0.143)		BRCA - Breast invasive adenocarcinoma(99;0.00664)|Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		AGCTTGGCCAGCACTGGCCCC	0.622																																						uc003xcl.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(463-465)CTG>TTG		bridging integrator 3							66.0	76.0	72.0					8																	22481752		2010	4167	6177	SO:0001819	synonymous_variant	55909				actin filament organization|barrier septum formation|cell cycle|protein localization|unidimensional cell growth	cytoplasm|cytoskeleton	cytoskeletal adaptor activity	g.chr8:22481752G>A		CCDS47825.1	8p21.2	2008-07-04			ENSG00000147439	ENSG00000147439			1054	protein-coding gene	gene with protein product		606396				16524918	Standard	NM_018688		Approved		uc003xcl.3	Q9NQY0	OTTHUMG00000163844	ENST00000276416.6:c.463C>T	8.37:g.22481752G>A						BIN3_uc003xck.2_Silent_p.L107L|BIN3_uc010ltw.2_Silent_p.L101L	p.L155L	NM_018688	NP_061158	Q9NQY0	BIN3_HUMAN		BRCA - Breast invasive adenocarcinoma(99;0.00664)|Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)	7	560	-		Prostate(55;0.0424)|Breast(100;0.102)|all_epithelial(46;0.143)	155			BAR.		Q9BVG2|Q9NVY9	Silent	SNP	ENST00000276416.6	37	c.463C>T	CCDS47825.1																																																																																				PASS	0.622	BIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375895.1			3	45	3	45	---	---	---	---
DPYSL2	1808	broad.mit.edu	37	8	26510758	26510758	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr8:26510758T>A	ENST00000311151.5	+	13	1884	c.1472T>A	c.(1471-1473)cTg>cAg	p.L491Q	DPYSL2_ENST00000521913.1_Missense_Mutation_p.L455Q|DPYSL2_ENST00000523027.1_Missense_Mutation_p.L455Q	NM_001386.5	NP_001377.1	Q16555	DPYL2_HUMAN	dihydropyrimidinase-like 2	491					axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|olfactory bulb development (GO:0021772)|positive regulation of glutamate secretion (GO:0014049)|pyrimidine nucleobase catabolic process (GO:0006208)|regulation of neuron differentiation (GO:0045664)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|signal transduction (GO:0007165)|spinal cord development (GO:0021510)|synaptic vesicle transport (GO:0048489)	axon (GO:0030424)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	dihydropyrimidinase activity (GO:0004157)	p.L491Q(1)		breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		CTGGCTGAGCTGAGAGGGGTT	0.602																																						uc003xfb.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(1471-1473)CTG>CAG		dihydropyrimidinase-like 2							158.0	150.0	153.0					8																	26510758		2203	4300	6503	SO:0001583	missense	1808				axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding	g.chr8:26510758T>A	D78013	CCDS6051.1, CCDS59096.1	8p22-p21	2011-09-28			ENSG00000092964	ENSG00000092964			3014	protein-coding gene	gene with protein product		602463				8973361	Standard	NM_001197293		Approved	DRP-2, DHPRP2, CRMP2, DRP2	uc003xfa.3	Q16555	OTTHUMG00000099439	ENST00000311151.5:c.1472T>A	8.37:g.26510758T>A	ENSP00000309539:p.Leu491Gln					DPYSL2_uc003xfa.2_Missense_Mutation_p.L596Q|DPYSL2_uc010luk.1_RNA|DPYSL2_uc011lah.1_Missense_Mutation_p.L455Q	p.L491Q	NM_001386	NP_001377	Q16555	DPYL2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)	13	1822	+		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)	491					A8K5H2|B4DR31|D3DSS7|O00424	Missense_Mutation	SNP	ENST00000311151.5	37	c.1472T>A	CCDS6051.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.953482	0.73902	.	.	ENSG00000092964	ENST00000545637;ENST00000521913;ENST00000311151;ENST00000522745;ENST00000523027	D;D;D;D	0.86230	-2.09;-2.09;-2.09;-2.09	5.67	5.67	0.87782	Metal-dependent hydrolase, composite domain (1);	0.000000	0.64402	D	0.000001	D	0.91898	0.7435	M	0.67953	2.075	0.80722	D	1	D;D	0.62365	0.975;0.991	D;D	0.74023	0.948;0.982	D	0.89930	0.4065	10	0.22109	T	0.4	-15.0778	15.918	0.79539	0.0:0.0:0.0:1.0	.	491;547	Q16555;Q59GB4	DPYL2_HUMAN;.	Q	117;455;491;491;455	ENSP00000427985:L455Q;ENSP00000309539:L491Q;ENSP00000428909:L491Q;ENSP00000431117:L455Q	ENSP00000309539:L491Q	L	+	2	0	DPYSL2	26566675	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.993000	0.88291	2.165000	0.68154	0.459000	0.35465	CTG		PASS	0.602	DPYSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216904.3	NM_001386		16	176	16	176	---	---	---	---
TRIM55	84675	broad.mit.edu	37	8	67047300	67047300	+	Silent	SNP	C	C	T	rs150385092		TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr8:67047300C>T	ENST00000315962.4	+	3	790	c.417C>T	c.(415-417)tgC>tgT	p.C139C	TRIM55_ENST00000276573.7_Silent_p.C139C|TRIM55_ENST00000350034.4_Silent_p.C139C|TRIM55_ENST00000353317.5_Silent_p.C139C	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	139					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)	p.C139C(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			GTCTGAACTGCGAAGTACCCA	0.527													C|||	1	0.000199681	0.0008	0.0	5008	,	,		22492	0.0		0.0	False		,,,				2504	0.0					uc003xvv.2																			1	Substitution - coding silent(1)		lung(1)	skin(3)|ovary(1)|central_nervous_system(1)	5						c.(415-417)TGC>TGT		tripartite motif-containing 55 isoform 1							200.0	161.0	174.0					8																	67047300		2203	4300	6503	SO:0001819	synonymous_variant	84675					cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding	g.chr8:67047300C>T	AJ291712	CCDS6184.1, CCDS6185.1, CCDS6186.1, CCDS6187.1	8q13.1	2013-01-09	2011-01-25	2004-11-17	ENSG00000147573	ENSG00000147573		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	14215	protein-coding gene	gene with protein product		606469	"""ring finger protein 29"", ""tripartite motif-containing 55"""	RNF29		11243782	Standard	NM_033058		Approved	MURF-2	uc003xvv.3	Q9BYV6	OTTHUMG00000164473	ENST00000315962.4:c.417C>T	8.37:g.67047300C>T						TRIM55_uc003xvu.2_Silent_p.C139C|TRIM55_uc003xvw.2_Silent_p.C139C|TRIM55_uc003xvx.2_Silent_p.C139C	p.C139C	NM_184085	NP_908973	Q9BYV6	TRI55_HUMAN	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)		3	643	+		Lung NSC(129;0.138)|all_lung(136;0.221)	139			B box-type.		B3KRC0|B3KRJ3|Q53XX3|Q8IUD9|Q8IUE4|Q96DV2|Q96DV3|Q9BYV5	Silent	SNP	ENST00000315962.4	37	c.417C>T	CCDS6184.1																																																																																				PASS	0.527	TRIM55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378921.1	NM_184085		4	109	4	109	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77767552	77767552	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr8:77767552G>T	ENST00000521891.2	+	10	8843	c.8395G>T	c.(8395-8397)Gat>Tat	p.D2799Y	ZFHX4_ENST00000455469.2_Missense_Mutation_p.D2754Y|ZFHX4_ENST00000050961.6_Missense_Mutation_p.D2754Y|ZFHX4_ENST00000518282.1_Missense_Mutation_p.D2773Y	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2754					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.D2783Y(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AAATAAAACCGATTTTGATGA	0.443										HNSCC(33;0.089)																												uc003yav.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(8260-8262)GAT>TAT		zinc finger homeodomain 4							37.0	37.0	37.0					8																	77767552		1918	4142	6060	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77767552G>T		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.8395G>T	8.37:g.77767552G>T	ENSP00000430497:p.Asp2799Tyr	HNSCC(33;0.089)				ZFHX4_uc003yau.1_Missense_Mutation_p.D2799Y|ZFHX4_uc003yaw.1_Missense_Mutation_p.D2754Y	p.D2754Y	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	8647	+			2754					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.8260G>T	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	10.66	1.413458	0.25465	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.62105	0.05;0.12;0.09;0.08	4.82	4.82	0.62117	.	0.000000	0.46145	U	0.000319	T	0.75317	0.3833	L	0.55990	1.75	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.91635	0.998;0.999;0.999	T	0.73282	-0.4032	10	0.35671	T	0.21	.	18.0917	0.89477	0.0:0.0:1.0:0.0	.	2754;2754;2799	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	Y	2799;2783;2754;2754;2773	ENSP00000430497:D2799Y;ENSP00000399605:D2754Y;ENSP00000050961:D2754Y;ENSP00000430848:D2773Y	ENSP00000050961:D2754Y	D	+	1	0	ZFHX4	77930107	1.000000	0.71417	0.990000	0.47175	0.101000	0.19017	9.657000	0.98554	2.513000	0.84729	0.555000	0.69702	GAT		PASS	0.443	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		6	50	6	50	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113326816	113326816	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr8:113326816T>A	ENST00000297405.5	-	48	7635	c.7391A>T	c.(7390-7392)gAt>gTt	p.D2464V	CSMD3_ENST00000352409.3_Missense_Mutation_p.D2394V|CSMD3_ENST00000343508.3_Missense_Mutation_p.D2424V|CSMD3_ENST00000455883.2_Missense_Mutation_p.D2360V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2464	CUB 14. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.D2464V(1)|p.D2424V(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCCAGTAGAATCTAGCCGTAA	0.388										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2																			2	Substitution - Missense(2)		lung(2)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(7390-7392)GAT>GTT		CUB and Sushi multiple domains 3 isoform 1							64.0	62.0	62.0					8																	113326816		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113326816T>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.7391A>T	8.37:g.113326816T>A	ENSP00000297405:p.Asp2464Val	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.D1666V|CSMD3_uc003ynt.2_Missense_Mutation_p.D2424V|CSMD3_uc011lhx.1_Missense_Mutation_p.D2360V|CSMD3_uc003ynw.1_Missense_Mutation_p.D175V	p.D2464V	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			48	7550	-			2464			CUB 14.|Extracellular (Potential).		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.7391A>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.954257	0.73902	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.36878	1.23;1.23;1.23;1.23;1.23	4.98	4.98	0.66077	CUB (5);	0.000000	0.64402	D	0.000001	T	0.66137	0.2759	M	0.91140	3.18	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	0.999;1.0;0.974	T	0.70204	-0.4936	10	0.28530	T	0.3	.	14.8078	0.69971	0.0:0.0:0.0:1.0	.	2360;2464;2424	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	V	2424;2464;1734;2360;2394	ENSP00000345799:D2424V;ENSP00000297405:D2464V;ENSP00000341558:D1734V;ENSP00000412263:D2360V;ENSP00000343124:D2394V	ENSP00000297405:D2464V	D	-	2	0	CSMD3	113395992	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	6.020000	0.70826	2.081000	0.62600	0.472000	0.43445	GAT		PASS	0.388	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		4	49	4	49	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113702181	113702181	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr8:113702181G>T	ENST00000297405.5	-	14	2315	c.2071C>A	c.(2071-2073)Cag>Aag	p.Q691K	CSMD3_ENST00000352409.3_Missense_Mutation_p.Q691K|CSMD3_ENST00000343508.3_Missense_Mutation_p.Q651K|CSMD3_ENST00000455883.2_Missense_Mutation_p.Q587K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	691	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.Q691K(2)|p.Q651K(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AACCCAAACTGGCATTCAAAC	0.373										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2																			4	Substitution - Missense(4)		lung(4)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(2071-2073)CAG>AAG		CUB and Sushi multiple domains 3 isoform 1							167.0	171.0	169.0					8																	113702181		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113702181G>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.2071C>A	8.37:g.113702181G>T	ENSP00000297405:p.Gln691Lys	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_5'UTR|CSMD3_uc003ynt.2_Missense_Mutation_p.Q651K|CSMD3_uc011lhx.1_Missense_Mutation_p.Q587K	p.Q691K	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			14	2230	-			691			Extracellular (Potential).|Sushi 3.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.2071C>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	13.96	2.393978	0.42410	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.61627	0.09;0.09;0.09;0.09;0.09	4.96	4.96	0.65561	Complement control module (2);Sushi/SCR/CCP (3);	0.085059	0.49305	D	0.000150	T	0.52837	0.1759	L	0.39633	1.23	0.43385	D	0.995494	B;B;B	0.28783	0.222;0.144;0.02	B;B;B	0.35413	0.138;0.202;0.025	T	0.46721	-0.9171	10	0.15066	T	0.55	.	18.5566	0.91088	0.0:0.0:1.0:0.0	.	587;691;651	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	K	651;691;31;587;691	ENSP00000345799:Q651K;ENSP00000297405:Q691K;ENSP00000341558:Q31K;ENSP00000412263:Q587K;ENSP00000343124:Q691K	ENSP00000297405:Q691K	Q	-	1	0	CSMD3	113771357	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.813000	0.99286	2.456000	0.83038	0.484000	0.47621	CAG		PASS	0.373	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		14	257	14	257	---	---	---	---
FAM135B	51059	broad.mit.edu	37	8	139164043	139164043	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr8:139164043C>A	ENST00000395297.1	-	13	2845	c.2675G>T	c.(2674-2676)aGg>aTg	p.R892M		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	892								p.R892M(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			AGATCTGGTCCTGGGGTTTTC	0.473										HNSCC(54;0.14)																												uc003yuy.2																			2	Substitution - Missense(2)	p.R892G(1)	lung(2)	ovary(7)|skin(2)	9						c.(2674-2676)AGG>ATG		hypothetical protein LOC51059							130.0	124.0	126.0					8																	139164043		2203	4300	6503	SO:0001583	missense	51059							g.chr8:139164043C>A	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.2675G>T	8.37:g.139164043C>A	ENSP00000378710:p.Arg892Met	HNSCC(54;0.14)				FAM135B_uc003yux.2_Missense_Mutation_p.R793M|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.R454M|FAM135B_uc003yvb.2_Missense_Mutation_p.R454M	p.R892M	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		13	2846	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		892					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.2675G>T	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	C	15.23	2.772811	0.49680	.	.	ENSG00000147724	ENST00000395297	T	0.16073	2.37	5.33	-0.638	0.11500	.	1.594030	0.02860	N	0.130137	T	0.11750	0.0286	N	0.24115	0.695	0.09310	N	1	B;B;B	0.24426	0.103;0.103;0.009	B;B;B	0.18561	0.022;0.022;0.004	T	0.28586	-1.0039	10	0.48119	T	0.1	0.0296	4.6256	0.12476	0.1494:0.4294:0.0:0.4212	.	892;892;892	Q49AJ0-3;Q49AJ0-4;Q49AJ0	.;.;F135B_HUMAN	M	892	ENSP00000378710:R892M	ENSP00000276737:R892M	R	-	2	0	FAM135B	139233225	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.172000	0.09868	-0.035000	0.13691	0.655000	0.94253	AGG		PASS	0.473	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		11	159	11	159	---	---	---	---
GDA	9615	broad.mit.edu	37	9	74838057	74838057	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr9:74838057G>A	ENST00000358399.3	+	7	721	c.628G>A	c.(628-630)Gtg>Atg	p.V210M	GDA_ENST00000376989.3_Intron|GDA_ENST00000477618.1_3'UTR|GDA_ENST00000376986.1_Intron|GDA_ENST00000238018.4_Missense_Mutation_p.V210M|GDA_ENST00000545168.1_Missense_Mutation_p.V136M	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	210					guanine catabolic process (GO:0006147)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	guanine deaminase activity (GO:0008892)|zinc ion binding (GO:0008270)	p.V210M(2)		central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		GAAGCCCATAGTGACACCACG	0.383																																						uc004aiq.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(2)|skin(1)	5						c.(628-630)GTG>ATG		guanine deaminase							182.0	168.0	173.0					9																	74838057		2203	4300	6503	SO:0001583	missense	9615				nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding	g.chr9:74838057G>A	AF095286	CCDS6641.1, CCDS56576.1, CCDS56577.1	9q21.13	2008-05-14			ENSG00000119125	ENSG00000119125			4212	protein-coding gene	gene with protein product		139260				10075721, 3966794	Standard	NM_001242507		Approved		uc004air.3	Q9Y2T3	OTTHUMG00000020005	ENST00000358399.3:c.628G>A	9.37:g.74838057G>A	ENSP00000351170:p.Val210Met					GDA_uc011lse.1_Missense_Mutation_p.V136M|GDA_uc011lsf.1_Missense_Mutation_p.V136M|GDA_uc004air.2_Missense_Mutation_p.V210M|GDA_uc010mow.1_RNA|GDA_uc004ais.2_Intron|GDA_uc004ait.1_Missense_Mutation_p.V136M	p.V210M	NM_004293	NP_004284	Q9Y2T3	GUAD_HUMAN		Lung(182;0.0583)	7	811	+		Myeloproliferative disorder(762;0.0122)	210					B4DTY5|Q5SZC7|Q9H335|Q9ULG2	Missense_Mutation	SNP	ENST00000358399.3	37	c.628G>A	CCDS6641.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.435035	0.83885	.	.	ENSG00000119125	ENST00000545168;ENST00000238018;ENST00000358399;ENST00000414671	D;D;D;D	0.90620	-2.7;-2.7;-2.7;-2.7	5.58	5.58	0.84498	Amidohydrolase 1 (1);	0.054219	0.64402	D	0.000001	D	0.95063	0.8401	M	0.81112	2.525	0.58432	D	0.99999	D;D	0.69078	0.997;0.985	D;P	0.65987	0.94;0.898	D	0.95417	0.8503	10	0.87932	D	0	-15.1338	16.4881	0.84190	0.0:0.0:1.0:0.0	.	210;210	Q9Y2T3-3;Q9Y2T3	.;GUAD_HUMAN	M	136;210;210;76	ENSP00000437972:V136M;ENSP00000238018:V210M;ENSP00000351170:V210M;ENSP00000403897:V76M	ENSP00000238018:V210M	V	+	1	0	GDA	74027877	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.993000	0.49425	2.626000	0.88956	0.655000	0.94253	GTG		PASS	0.383	GDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052633.1			36	136	36	136	---	---	---	---
C9orf170	401535	broad.mit.edu	37	9	89771592	89771592	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr9:89771592C>G	ENST00000375941.2	+	2	360	c.273C>G	c.(271-273)aaC>aaG	p.N91K		NM_001001709.2	NP_001001709.1	A2RU37	CI170_HUMAN	chromosome 9 open reading frame 170	91								p.N91K(1)		large_intestine(3)|lung(2)|prostate(1)	6						attggaaaaacctCTTGATAG	0.403																																						uc004apa.1																			1	Substitution - Missense(1)		lung(1)		0						c.(271-273)AAC>AAG		hypothetical protein LOC401535							73.0	71.0	72.0					9																	89771592		2203	4300	6503	SO:0001583	missense	401535							g.chr9:89771592C>G	AK127445	CCDS35058.1	9q21.33	2009-02-11			ENSG00000204446	ENSG00000204446			33817	protein-coding gene	gene with protein product							Standard	NM_001001709		Approved	FLJ45537	uc004apa.1	A2RU37	OTTHUMG00000159587	ENST00000375941.2:c.273C>G	9.37:g.89771592C>G	ENSP00000365108:p.Asn91Lys						p.N91K	NM_001001709	NP_001001709	A2RU37	CI170_HUMAN			2	360	+			91						Missense_Mutation	SNP	ENST00000375941.2	37	c.273C>G	CCDS35058.1	.	.	.	.	.	.	.	.	.	.	C	1.455	-0.563991	0.03939	.	.	ENSG00000204446	ENST00000375941	.	.	.	2.09	0.00609	0.14065	.	.	.	.	.	T	0.16041	0.0386	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.21177	-1.0253	8	0.87932	D	0	.	2.3958	0.04389	0.3607:0.4351:0.0:0.2042	.	91	A2RU37	CI170_HUMAN	K	91	.	ENSP00000365108:N91K	N	+	3	2	C9orf170	88961412	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.240000	0.18042	-0.017000	0.14103	0.543000	0.68304	AAC		PASS	0.403	C9orf170-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356346.1	NM_001001709		6	32	6	32	---	---	---	---
CTSV	1515	broad.mit.edu	37	9	99797855	99797855	+	Missense_Mutation	SNP	C	C	T	rs560756442		TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr9:99797855C>T	ENST00000259470.5	-	6	991	c.742G>A	c.(742-744)Gtt>Att	p.V248I	CTSV_ENST00000538255.1_Missense_Mutation_p.V248I|CTSV_ENST00000479932.1_5'Flank	NM_001333.3	NP_001324.2	O60911	CATL2_HUMAN	cathepsin V	248					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|autophagic cell death (GO:0048102)|catagen (GO:0042637)|cellular response to starvation (GO:0009267)|decidualization (GO:0046697)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|multicellular organismal aging (GO:0010259)|negative regulation of keratinocyte proliferation (GO:0010839)|nerve development (GO:0021675)|protein autoprocessing (GO:0016540)|regulation of actin cytoskeleton reorganization (GO:2000249)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to gonadotropin (GO:0034698)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|microvillus (GO:0005902)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|perikaryon (GO:0043204)	aminopeptidase activity (GO:0004177)|cysteine-type carboxypeptidase activity (GO:0016807)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|peptide binding (GO:0042277)	p.V248I(1)									TCCATAGCAACGGAGATGGGC	0.468													.|||	1	0.000199681	0.0	0.0	5008	,	,		17453	0.0		0.001	False		,,,				2504	0.0					uc004awt.2																			1	Substitution - Missense(1)		lung(1)		0						c.(742-744)GTT>ATT		cathepsin L2 preproprotein							86.0	78.0	81.0					9																	99797855		2203	4300	6503	SO:0001583	missense	1515					lysosome	cysteine-type endopeptidase activity	g.chr9:99797855C>T	Y14734	CCDS6723.1	9q22.33	2013-06-27	2013-06-27	2013-06-27	ENSG00000136943	ENSG00000136943		"""Cathepsins"""	2538	protein-coding gene	gene with protein product		603308	"""cathepsin L2"""	CTSL2		9563472, 10029531	Standard	NM_001201575		Approved	CTSU	uc004awt.3	O60911	OTTHUMG00000020314	ENST00000259470.5:c.742G>A	9.37:g.99797855C>T	ENSP00000259470:p.Val248Ile					CTSL2_uc010msi.2_Missense_Mutation_p.V248I|CTSL2_uc004awu.2_Missense_Mutation_p.V193I|CTSL2_uc010msj.1_Missense_Mutation_p.V193I	p.V248I	NM_001333	NP_001324	O60911	CATL2_HUMAN			6	939	-		Acute lymphoblastic leukemia(62;0.0559)	248					O60233|Q2TB86|Q5T1U0	Missense_Mutation	SNP	ENST00000259470.5	37	c.742G>A	CCDS6723.1	.	.	.	.	.	.	.	.	.	.	C	9.898	1.206208	0.22205	.	.	ENSG00000136943	ENST00000259470;ENST00000538255	D;D	0.89196	-2.48;-2.48	3.65	2.75	0.32379	Peptidase C1A, papain C-terminal (2);	0.061478	0.64402	N	0.000004	D	0.82476	0.5045	L	0.43923	1.385	0.58432	D	0.999998	P;B	0.36495	0.556;0.353	B;B	0.36244	0.22;0.112	T	0.78033	-0.2362	9	.	.	.	.	9.4288	0.38597	0.0:0.8915:0.0:0.1085	.	248;248	B2R717;O60911	.;CATL2_HUMAN	I	248	ENSP00000259470:V248I;ENSP00000445052:V248I	.	V	-	1	0	CTSL2	98837676	1.000000	0.71417	0.999000	0.59377	0.044000	0.14063	3.503000	0.53340	1.148000	0.42385	-0.258000	0.10820	GTT		PASS	0.468	CTSV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053301.2	NM_001333		10	51	10	51	---	---	---	---
ZBTB34	403341	broad.mit.edu	37	9	129642902	129642902	+	Silent	SNP	C	C	T			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr9:129642902C>T	ENST00000373452.2	+	1	1276	c.1212C>T	c.(1210-1212)ttC>ttT	p.F404F	ZBTB34_ENST00000319119.4_Silent_p.F408F			Q8NCN2	ZBT34_HUMAN	zinc finger and BTB domain containing 34	404					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.F408F(1)		endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						TGTGCAAGTTCTGTGGGAAGA	0.493																																						uc004bqm.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1210-1212)TTC>TTT		zinc finger and BTB domain containing 34							74.0	74.0	74.0					9																	129642902		1989	4164	6153	SO:0001819	synonymous_variant	403341				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:129642902C>T	DQ227306	CCDS48023.1	9q33.3	2013-01-08			ENSG00000177125	ENSG00000177125		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	31446	protein-coding gene	gene with protein product		611692				16718364	Standard	NM_001099270		Approved	KIAA1993, MGC24652, ZNF918	uc004bqm.4	Q8NCN2	OTTHUMG00000020694	ENST00000373452.2:c.1212C>T	9.37:g.129642902C>T							p.F404F	NM_001099270	NP_001092740	Q8NCN2	ZBT34_HUMAN			2	1309	+			404			C2H2-type 2.		Q38IA7|Q5VYE9	Silent	SNP	ENST00000373452.2	37	c.1212C>T	CCDS48023.1																																																																																				PASS	0.493	ZBTB34-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001099270		9	34	9	34	---	---	---	---
SPTAN1	6709	broad.mit.edu	37	9	131339714	131339714	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr9:131339714A>T	ENST00000372731.4	+	8	1124	c.1014A>T	c.(1012-1014)gaA>gaT	p.E338D	SPTAN1_ENST00000372739.3_Missense_Mutation_p.E338D|SPTAN1_ENST00000358161.5_Missense_Mutation_p.E338D	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	338					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.E338D(1)		NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						AGCGAGAGGAACTGATTACAA	0.517																																					NSCLC(120;833 1744 2558 35612 37579)	uc004bvl.3																			1	Substitution - Missense(1)		lung(1)	breast(5)|ovary(4)|pancreas(1)	10						c.(1012-1014)GAA>GAT		spectrin, alpha, non-erythrocytic 1							86.0	79.0	81.0					9																	131339714		2203	4300	6503	SO:0001583	missense	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131339714A>T	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.1014A>T	9.37:g.131339714A>T	ENSP00000361816:p.Glu338Asp					SPTAN1_uc011mbg.1_Missense_Mutation_p.E338D|SPTAN1_uc011mbh.1_Missense_Mutation_p.E350D|SPTAN1_uc004bvm.3_Missense_Mutation_p.E338D|SPTAN1_uc004bvn.3_Missense_Mutation_p.E338D	p.E338D	NM_003127	NP_003118	Q13813	SPTA2_HUMAN			8	1127	+			338			Spectrin 4.		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	ENST00000372731.4	37	c.1014A>T	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	A	14.23	2.472065	0.43942	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	T;T;T	0.35048	1.33;1.33;1.33	6.03	-2.99	0.05497	.	0.000000	0.85682	D	0.000000	T	0.41442	0.1159	L	0.37561	1.115	0.50039	D	0.999849	P;D;B;P;P	0.57257	0.536;0.979;0.01;0.576;0.756	B;D;B;B;P	0.74023	0.278;0.982;0.045;0.392;0.555	T	0.30995	-0.9959	10	0.14656	T	0.56	.	14.4278	0.67227	0.6679:0.0:0.3321:0.0	.	338;338;338;338;338	A6NG51;B4DTV8;Q13813-3;Q13813-2;Q13813	.;.;.;.;SPTA2_HUMAN	D	338	ENSP00000350882:E338D;ENSP00000361816:E338D;ENSP00000361824:E338D	ENSP00000350882:E338D	E	+	3	2	SPTAN1	130379535	0.953000	0.32496	0.928000	0.36995	0.982000	0.71751	0.073000	0.14640	-0.653000	0.05401	-0.899000	0.02877	GAA		PASS	0.517	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127		25	96	25	96	---	---	---	---
DIP2C	22982	broad.mit.edu	37	10	468780	468780	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr10:468780C>A	ENST00000280886.6	-	5	675	c.588G>T	c.(586-588)atG>atT	p.M196I	DIP2C_ENST00000381496.3_Missense_Mutation_p.M89I	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	196						nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.M196I(1)		breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GGGTCTGAGCCATGACGTCCG	0.612																																						uc001ifp.2																			1	Substitution - Missense(1)		lung(1)	breast(4)|ovary(2)|large_intestine(1)	7						c.(586-588)ATG>ATT		DIP2 disco-interacting protein 2 homolog C							67.0	67.0	67.0					10																	468780		2203	4300	6503	SO:0001583	missense	22982					nucleus	catalytic activity|transcription factor binding	g.chr10:468780C>A	BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"""KIAA0934"""	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.588G>T	10.37:g.468780C>A	ENSP00000280886:p.Met196Ile					DIP2C_uc009xhk.1_Missense_Mutation_p.W198L	p.M196I	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)	5	678	-		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	196					B4DPI5|Q5SS78	Missense_Mutation	SNP	ENST00000280886.6	37	c.588G>T	CCDS7054.1	.	.	.	.	.	.	.	.	.	.	.	17.37	3.371418	0.61624	.	.	ENSG00000151240	ENST00000280886;ENST00000381496	T;T	0.29397	2.0;1.57	5.43	5.43	0.79202	.	0.212946	0.50627	D	0.000110	T	0.31513	0.0799	L	0.49126	1.545	0.58432	D	0.999997	B	0.02656	0.0	B	0.04013	0.001	T	0.07481	-1.0770	10	0.21014	T	0.42	-37.8393	19.2402	0.93879	0.0:1.0:0.0:0.0	.	196	Q9Y2E4	DIP2C_HUMAN	I	196;89	ENSP00000280886:M196I;ENSP00000370907:M89I	ENSP00000280886:M196I	M	-	3	0	DIP2C	458780	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	4.643000	0.61390	2.543000	0.85770	0.467000	0.42956	ATG		PASS	0.612	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	NM_014974		13	68	13	68	---	---	---	---
ITGA8	8516	broad.mit.edu	37	10	15600082	15600082	+	Silent	SNP	T	T	C			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr10:15600082T>C	ENST00000378076.3	-	26	3110	c.2757A>G	c.(2755-2757)gcA>gcG	p.A919A		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	919					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)	p.A919A(1)		NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						CCAGTATTTTTGCAGGGCTCT	0.448																																						uc001ioc.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|lung(3)	6						c.(2755-2757)GCA>GCG		integrin, alpha 8 precursor							102.0	99.0	100.0					10																	15600082		2203	4300	6503	SO:0001819	synonymous_variant	8516				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	g.chr10:15600082T>C	L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"""Integrins"""	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.2757A>G	10.37:g.15600082T>C						ITGA8_uc010qcb.1_Silent_p.A904A	p.A919A	NM_003638	NP_003629	P53708	ITA8_HUMAN			26	2757	-			919			Extracellular (Potential).		B0YJ31|Q5VX94	Silent	SNP	ENST00000378076.3	37	c.2757A>G	CCDS31155.1																																																																																				PASS	0.448	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638		7	160	7	160	---	---	---	---
ANKRD26	22852	broad.mit.edu	37	10	27306536	27306536	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr10:27306536C>G	ENST00000376087.4	-	30	4566	c.4401G>C	c.(4399-4401)agG>agC	p.R1467S	ANKRD26_ENST00000436985.2_Missense_Mutation_p.R1483S|ANKRD26_ENST00000376070.3_Missense_Mutation_p.R1024S	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1466					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)		p.R1467S(1)		breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						CTACCATATTCCTTTCTATAT	0.308																																						uc001ith.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1)	4						c.(4396-4398)AGG>AGC		ankyrin repeat domain 26							136.0	124.0	127.0					10																	27306536		1831	4081	5912	SO:0001583	missense	22852					centrosome		g.chr10:27306536C>G	AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"""Ankyrin repeat domain containing"""	29186	protein-coding gene	gene with protein product		610855	"""thrombocytopenia 2 (autosomal dominant)"""	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.4401G>C	10.37:g.27306536C>G	ENSP00000365255:p.Arg1467Ser					ANKRD26_uc001itg.2_Missense_Mutation_p.R1153S|ANKRD26_uc009xku.1_Missense_Mutation_p.R1467S	p.R1466S	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN			30	4570	-			1466			Potential.		A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Missense_Mutation	SNP	ENST00000376087.4	37	c.4398G>C	CCDS41499.1	.	.	.	.	.	.	.	.	.	.	C	5.817	0.335062	0.11013	.	.	ENSG00000107890	ENST00000376070;ENST00000376087;ENST00000436985	T;T;T	0.28255	4.1;1.62;1.62	5.08	-5.89	0.02282	.	0.630018	0.14643	N	0.307075	T	0.09905	0.0243	N	0.19112	0.55	0.09310	N	1	B;B;B	0.23185	0.001;0.0;0.081	B;B;B	0.18263	0.004;0.002;0.021	T	0.36383	-0.9750	10	0.07990	T	0.79	.	0.4461	0.00494	0.2086:0.2283:0.2058:0.3572	.	1467;1466;1483	Q9UPS8-3;Q9UPS8;A1L497	.;ANR26_HUMAN;.	S	1024;1467;1483	ENSP00000365238:R1024S;ENSP00000365255:R1467S;ENSP00000405112:R1483S	ENSP00000365238:R1024S	R	-	3	2	ANKRD26	27346542	0.000000	0.05858	0.000000	0.03702	0.134000	0.20937	-2.285000	0.01153	-0.954000	0.03640	0.455000	0.32223	AGG		PASS	0.308	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1			5	79	5	79	---	---	---	---
ANKRD26	22852	broad.mit.edu	37	10	27366456	27366456	+	Silent	SNP	A	A	G			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr10:27366456A>G	ENST00000376087.4	-	9	1053	c.888T>C	c.(886-888)taT>taC	p.Y296Y	ANKRD26_ENST00000466890.1_5'UTR|ANKRD26_ENST00000436985.2_Silent_p.Y345Y	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	296					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)		p.Y296Y(1)		breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TCACAGTGCCATATGTTGCTT	0.323																																						uc001ith.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1)	4						c.(886-888)TAT>TAC		ankyrin repeat domain 26							175.0	150.0	158.0					10																	27366456		1841	4095	5936	SO:0001819	synonymous_variant	22852					centrosome		g.chr10:27366456A>G	AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"""Ankyrin repeat domain containing"""	29186	protein-coding gene	gene with protein product		610855	"""thrombocytopenia 2 (autosomal dominant)"""	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.888T>C	10.37:g.27366456A>G						ANKRD26_uc001itg.2_Silent_p.Y15Y|ANKRD26_uc009xku.1_Silent_p.Y296Y	p.Y296Y	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN			9	1060	-			296					A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Silent	SNP	ENST00000376087.4	37	c.888T>C	CCDS41499.1																																																																																				PASS	0.323	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1			6	81	6	81	---	---	---	---
RBP4	5950	broad.mit.edu	37	10	95351849	95351849	+	Nonsense_Mutation	SNP	C	C	A			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr10:95351849C>A	ENST00000371467.1	-	6	908	c.589G>T	c.(589-591)Gaa>Taa	p.E197*	RBP4_ENST00000371464.3_Nonsense_Mutation_p.E197*|RBP4_ENST00000371469.2_Nonsense_Mutation_p.E195*|FFAR4_ENST00000604414.1_Intron			P02753	RET4_HUMAN	retinol binding protein 4, plasma	197					cardiac muscle tissue development (GO:0048738)|detection of light stimulus involved in visual perception (GO:0050908)|embryonic organ morphogenesis (GO:0048562)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|embryonic skeletal system development (GO:0048706)|eye development (GO:0001654)|female genitalia morphogenesis (GO:0048807)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|lung development (GO:0030324)|maintenance of gastrointestinal epithelium (GO:0030277)|male gonad development (GO:0008584)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|phototransduction, visible light (GO:0007603)|positive regulation of immunoglobulin secretion (GO:0051024)|positive regulation of insulin secretion (GO:0032024)|response to ethanol (GO:0045471)|response to insulin (GO:0032868)|response to retinoic acid (GO:0032526)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|retinol transport (GO:0034633)|spermatogenesis (GO:0007283)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vagina development (GO:0060068)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	retinal binding (GO:0016918)|retinol binding (GO:0019841)|retinol transporter activity (GO:0034632)	p.E197*(1)		large_intestine(1)|lung(3)|skin(1)	5		Colorectal(252;0.122)			Vitamin A(DB00162)	AGGTTTCTTTCTGATCTGCCA	0.363																																					Pancreas(5;160 256 1117 46697 50185)	uc001kit.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(589-591)GAA>TAA		retinol-binding protein 4, plasma precursor	Vitamin A(DB00162)						111.0	105.0	107.0					10																	95351849		2203	4300	6503	SO:0001587	stop_gained	5950				cardiac muscle tissue development|embryonic organ morphogenesis|embryonic retina morphogenesis in camera-type eye|embryonic skeletal system development|female genitalia morphogenesis|gluconeogenesis|glucose homeostasis|heart trabecula formation|lung development|maintenance of gastrointestinal epithelium|negative regulation of cardiac muscle cell proliferation|positive regulation of immunoglobulin secretion|positive regulation of insulin secretion|response to retinoic acid|retinol metabolic process|urinary bladder development|uterus development|vagina development	extracellular space	protein binding|retinal binding|retinol binding	g.chr10:95351849C>A	BC020633	CCDS31249.1	10q23.33	2014-01-22	2001-11-28		ENSG00000138207	ENSG00000138207		"""Lipocalins"""	9922	protein-coding gene	gene with protein product		180250	"""retinol-binding protein 4, plasma"""				Standard	XM_005270023		Approved		uc001kit.3	P02753	OTTHUMG00000018773	ENST00000371467.1:c.589G>T	10.37:g.95351849C>A	ENSP00000360522:p.Glu197*						p.E197*	NM_006744	NP_006735	P02753	RET4_HUMAN			6	673	-		Colorectal(252;0.122)	197					D3DR38|O43478|O43479|Q5VY24|Q8WWA3|Q9P178	Nonsense_Mutation	SNP	ENST00000371467.1	37	c.589G>T	CCDS31249.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.592306	0.86953	.	.	ENSG00000138207	ENST00000371464;ENST00000371469;ENST00000371467;ENST00000371463	.	.	.	4.69	-0.154	0.13399	.	1.386480	0.04315	N	0.349755	.	.	.	.	.	.	0.21967	N	0.999448	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-0.4281	3.6395	0.08162	0.4356:0.3632:0.0:0.2013	.	.	.	.	X	197;195;197;195	.	ENSP00000360518:E195X	E	-	1	0	RBP4	95341839	0.001000	0.12720	0.001000	0.08648	0.953000	0.61014	0.589000	0.23939	0.155000	0.19261	0.505000	0.49811	GAA		PASS	0.363	RBP4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049431.1	NM_006744		7	56	7	56	---	---	---	---
PDCD11	22984	broad.mit.edu	37	10	105201613	105201613	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr10:105201613C>T	ENST00000369797.3	+	31	4682	c.4588C>T	c.(4588-4590)Cgg>Tgg	p.R1530W		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1530					mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)	p.R1530W(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		AGAAGCGCCCCGGCTGCAGCT	0.607																																						uc001kwy.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)|skin(2)|central_nervous_system(1)	7						c.(4588-4590)CGG>TGG		programmed cell death 11							39.0	45.0	43.0					10																	105201613		2203	4300	6503	SO:0001583	missense	22984				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding	g.chr10:105201613C>T	D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.4588C>T	10.37:g.105201613C>T	ENSP00000358812:p.Arg1530Trp						p.R1530W	NM_014976	NP_055791	Q14690	RRP5_HUMAN		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)	31	4675	+		Colorectal(252;0.0747)|Breast(234;0.128)	1530					Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Missense_Mutation	SNP	ENST00000369797.3	37	c.4588C>T	CCDS31276.1	.	.	.	.	.	.	.	.	.	.	C	17.74	3.464204	0.63513	.	.	ENSG00000148843	ENST00000369797;ENST00000543503	T	0.11712	2.75	5.5	4.53	0.55603	.	0.000000	0.85682	D	0.000000	T	0.19927	0.0479	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.00455	-1.1729	10	0.66056	D	0.02	-20.5034	11.0202	0.47713	0.413:0.587:0.0:0.0	.	1530	Q14690	RRP5_HUMAN	W	1530;1188	ENSP00000358812:R1530W	ENSP00000358812:R1530W	R	+	1	2	PDCD11	105191603	1.000000	0.71417	1.000000	0.80357	0.236000	0.25371	3.378000	0.52432	2.583000	0.87209	0.561000	0.74099	CGG		PASS	0.607	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1			3	53	3	53	---	---	---	---
MUC5B	727897	broad.mit.edu	37	11	1281021	1281021	+	Nonsense_Mutation	SNP	T	T	A			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr11:1281021T>A	ENST00000529681.1	+	45	16807	c.16749T>A	c.(16747-16749)tgT>tgA	p.C5583*	MUC5B_ENST00000447027.1_Nonsense_Mutation_p.C5586*	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	5583	VWFC 3. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.C5538*(1)|p.C5583*(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GGCAGTGCTGTGGGGAGTGCG	0.667																																						uc009ycr.1																			2	Substitution - Nonsense(2)		lung(2)		0						c.(17758-17760)TGT>TGA		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							66.0	79.0	74.0					11																	1281021		2107	4221	6328	SO:0001587	stop_gained	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1281021T>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.16749T>A	11.37:g.1281021T>A	ENSP00000436812:p.Cys5583*					MUC5B_uc001ltb.2_Nonsense_Mutation_p.C5586*	p.C5920*	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	67	17886	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	5583			VWFC 3.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Nonsense_Mutation	SNP	ENST00000529681.1	37	c.17760T>A	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	T	56	25.432957	0.99965	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000546052;ENST00000406844;ENST00000526859	.	.	.	4.25	-3.98	0.04082	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	10.9532	0.47343	0.0:0.2694:0.0:0.7306	.	.	.	.	X	5583;5586;5527;482;5295;128	.	ENSP00000343037:C5527X	C	+	3	2	MUC5B	1237597	0.001000	0.12720	0.354000	0.25760	0.056000	0.15407	-2.613000	0.00883	-0.508000	0.06540	-1.145000	0.01858	TGT		PASS	0.667	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		21	75	21	75	---	---	---	---
ANO3	63982	broad.mit.edu	37	11	26556100	26556100	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr11:26556100T>C	ENST00000256737.3	+	9	1819	c.967T>C	c.(967-969)Tca>Cca	p.S323P	ANO3_ENST00000531568.1_Missense_Mutation_p.S177P|ANO3_ENST00000537978.1_Missense_Mutation_p.S307P|ANO3_ENST00000525139.1_Missense_Mutation_p.S307P	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	323					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phospholipid scramblase activity (GO:0017128)	p.S323P(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						AAATGGAATATCAAAAGTGGG	0.323																																						uc001mqt.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(967-969)TCA>CCA		transmembrane protein 16C							79.0	79.0	79.0					11																	26556100		2203	4299	6502	SO:0001583	missense	63982					chloride channel complex	chloride channel activity	g.chr11:26556100T>C	AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	14004	protein-coding gene	gene with protein product	"""transmembrane protein 16C (eight membrane-spanning domains)"""	610110	"""chromosome 11 open reading frame 25"", ""transmembrane protein 16C"""	C11orf25, TMEM16C		12739008, 15067359, 23200863, 24692353	Standard	NM_031418		Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.967T>C	11.37:g.26556100T>C	ENSP00000256737:p.Ser323Pro					ANO3_uc010rdr.1_Missense_Mutation_p.S307P|ANO3_uc010rds.1_Missense_Mutation_p.S162P|ANO3_uc010rdt.1_Missense_Mutation_p.S177P	p.S323P	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN			9	1112	+			323			Cytoplasmic (Potential).		B7Z3F5	Missense_Mutation	SNP	ENST00000256737.3	37	c.967T>C	CCDS31447.1	.	.	.	.	.	.	.	.	.	.	T	17.24	3.338138	0.60963	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000538001;ENST00000531568	T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28	5.03	3.78	0.43462	.	0.390504	0.26959	N	0.021623	T	0.65154	0.2664	L	0.48642	1.525	0.58432	D	0.999994	P;D	0.54047	0.835;0.964	P;P	0.50082	0.493;0.63	T	0.64162	-0.6472	10	0.34782	T	0.22	.	11.8327	0.52305	0.1403:0.0:0.0:0.8597	.	225;323	B7Z7Y6;Q9BYT9	.;ANO3_HUMAN	P	307;307;323;225;177	ENSP00000440737:S307P;ENSP00000432576:S307P;ENSP00000256737:S323P;ENSP00000432394:S177P	ENSP00000256737:S323P	S	+	1	0	ANO3	26512676	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.970000	0.56824	1.903000	0.55091	0.377000	0.23210	TCA		PASS	0.323	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	NM_031418		15	81	15	81	---	---	---	---
NUP160	23279	broad.mit.edu	37	11	47808037	47808037	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr11:47808037C>A	ENST00000378460.2	-	32	3862	c.3816G>T	c.(3814-3816)caG>caT	p.Q1272H	NUP160_ENST00000530326.1_Missense_Mutation_p.Q1158H	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	1272					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)	p.Q1272H(1)		NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						CAGATGAGAGCTGATTGGCTG	0.463																																						uc001ngm.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7						c.(3814-3816)CAG>CAT		nucleoporin 160kDa							97.0	91.0	93.0					11																	47808037		2201	4298	6499	SO:0001583	missense	23279				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr11:47808037C>A	D83781	CCDS31484.1	11p11.12	2008-07-21	2002-08-29		ENSG00000030066	ENSG00000030066			18017	protein-coding gene	gene with protein product		607614	"""nucleoporin 160kD"""			11684705	Standard	NM_015231		Approved	KIAA0197, FLJ22583	uc001ngm.3	Q12769	OTTHUMG00000166534	ENST00000378460.2:c.3816G>T	11.37:g.47808037C>A	ENSP00000367721:p.Gln1272His					NUP160_uc009ylw.2_RNA	p.Q1272H	NM_015231	NP_056046	Q12769	NU160_HUMAN			32	3901	-			1272					B4DYE8|B4E2J9|Q08AD3|Q7Z5X6|Q96GB3|Q9H660	Missense_Mutation	SNP	ENST00000378460.2	37	c.3816G>T	CCDS31484.1	.	.	.	.	.	.	.	.	.	.	C	17.38	3.375116	0.61735	.	.	ENSG00000030066	ENST00000378460;ENST00000530326	T;T	0.45668	1.45;0.89	5.73	3.88	0.44766	.	0.053327	0.85682	D	0.000000	T	0.51193	0.1660	L	0.50333	1.59	0.80722	D	1	D	0.69078	0.997	P	0.61800	0.894	T	0.46470	-0.9189	10	0.46703	T	0.11	.	9.4953	0.38984	0.0:0.7259:0.0:0.2741	.	1272	Q12769	NU160_HUMAN	H	1272;1158	ENSP00000367721:Q1272H;ENSP00000433590:Q1158H	ENSP00000367721:Q1272H	Q	-	3	2	NUP160	47764613	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.702000	0.37836	0.798000	0.33994	-0.147000	0.13772	CAG		PASS	0.463	NUP160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390239.2	NM_015231		4	136	4	136	---	---	---	---
OR4P4	81300	broad.mit.edu	37	11	55405936	55405936	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr11:55405936G>T	ENST00000314612.2	+	1	103	c.103G>T	c.(103-105)Gct>Tct	p.A35S		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	35						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A35S(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						TTGCTACATTGCTATTTGGAT	0.368																																						uc010rij.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(103-105)GCT>TCT		olfactory receptor, family 4, subfamily P,							144.0	128.0	134.0					11																	55405936		2182	4028	6210	SO:0001583	missense	81300				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55405936G>T	AB065775	CCDS31504.1	11q11	2012-08-09			ENSG00000181927	ENSG00000181927		"""GPCR / Class A : Olfactory receptors"""	15180	protein-coding gene	gene with protein product				OR4P3P			Standard	NM_001004124		Approved		uc010rij.2	Q8NGL7	OTTHUMG00000165300	ENST00000314612.2:c.103G>T	11.37:g.55405936G>T	ENSP00000324831:p.Ala35Ser						p.A35S	NM_001004124	NP_001004124	Q8NGL7	OR4P4_HUMAN			1	103	+			35			Helical; Name=1; (Potential).			Missense_Mutation	SNP	ENST00000314612.2	37	c.103G>T	CCDS31504.1	.	.	.	.	.	.	.	.	.	.	G	7.840	0.721727	0.15372	.	.	ENSG00000181927	ENST00000314612	T	0.00441	7.41	5.02	2.05	0.26809	.	0.183295	0.26627	N	0.023325	T	0.00300	0.0009	L	0.41236	1.265	0.09310	N	1	B	0.21309	0.054	B	0.27715	0.082	T	0.46582	-0.9181	10	0.51188	T	0.08	-3.1729	2.5971	0.04856	0.1681:0.1441:0.5395:0.1482	.	35	Q8NGL7	OR4P4_HUMAN	S	35	ENSP00000324831:A35S	ENSP00000324831:A35S	A	+	1	0	OR4P4	55162512	0.000000	0.05858	0.002000	0.10522	0.221000	0.24807	-1.957000	0.01521	0.528000	0.28580	0.626000	0.83405	GCT		PASS	0.368	OR4P4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383356.1	NM_001004124		4	105	4	105	---	---	---	---
OR4P4	81300	broad.mit.edu	37	11	55406141	55406141	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr11:55406141A>T	ENST00000314612.2	+	1	308	c.308A>T	c.(307-309)cAt>cTt	p.H103L		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	103						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H103L(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						TTTACCACCCATTTTTTTGGA	0.433																																						uc010rij.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(307-309)CAT>CTT		olfactory receptor, family 4, subfamily P,							109.0	94.0	99.0					11																	55406141		2178	4020	6198	SO:0001583	missense	81300				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55406141A>T	AB065775	CCDS31504.1	11q11	2012-08-09			ENSG00000181927	ENSG00000181927		"""GPCR / Class A : Olfactory receptors"""	15180	protein-coding gene	gene with protein product				OR4P3P			Standard	NM_001004124		Approved		uc010rij.2	Q8NGL7	OTTHUMG00000165300	ENST00000314612.2:c.308A>T	11.37:g.55406141A>T	ENSP00000324831:p.His103Leu						p.H103L	NM_001004124	NP_001004124	Q8NGL7	OR4P4_HUMAN			1	308	+			103			Helical; Name=3; (Potential).			Missense_Mutation	SNP	ENST00000314612.2	37	c.308A>T	CCDS31504.1	.	.	.	.	.	.	.	.	.	.	A	13.59	2.281301	0.40394	.	.	ENSG00000181927	ENST00000314612	T	0.00535	6.73	5.18	4.06	0.47325	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42172	D	0.000755	T	0.00967	0.0032	N	0.21448	0.665	0.26029	N	0.981761	D	0.89917	1.0	D	0.91635	0.999	T	0.56123	-0.8031	10	0.87932	D	0	-6.1122	9.3617	0.38199	0.9143:0.0:0.0857:0.0	.	103	Q8NGL7	OR4P4_HUMAN	L	103	ENSP00000324831:H103L	ENSP00000324831:H103L	H	+	2	0	OR4P4	55162717	0.000000	0.05858	0.035000	0.18076	0.001000	0.01503	-0.099000	0.11007	1.939000	0.56221	0.519000	0.50382	CAT		PASS	0.433	OR4P4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383356.1	NM_001004124		4	80	4	80	---	---	---	---
OR5L1	219437	broad.mit.edu	37	11	55579077	55579077	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr11:55579077G>C	ENST00000333973.2	+	1	224	c.135G>C	c.(133-135)atG>atC	p.M45I		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	45						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M45I(2)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				ACCTGGGCATGATTGCACTGA	0.488																																						uc001nhw.1																			2	Substitution - Missense(2)		lung(1)|skin(1)	skin(3)|ovary(2)	5						c.(133-135)ATG>ATC		olfactory receptor, family 5, subfamily L,							329.0	287.0	301.0					11																	55579077		2200	4296	6496	SO:0001583	missense	219437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55579077G>C	AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"""GPCR / Class A : Olfactory receptors"""	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.135G>C	11.37:g.55579077G>C	ENSP00000335529:p.Met45Ile						p.M45I	NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN			1	135	+		all_epithelial(135;0.208)	45			Helical; Name=1; (Potential).		B2RNK6|Q6IFD0	Missense_Mutation	SNP	ENST00000333973.2	37	c.135G>C	CCDS31509.1	.	.	.	.	.	.	.	.	.	.	g	10.71	1.426174	0.25726	.	.	ENSG00000186117	ENST00000333973	T	0.00330	8.08	4.32	3.33	0.38152	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000012	T	0.00144	0.0004	N	0.05554	-0.025	0.09310	N	1	B	0.16802	0.019	B	0.15052	0.012	T	0.44651	-0.9314	10	0.48119	T	0.1	-66.6812	3.2985	0.06974	0.198:0.0:0.5812:0.2208	.	45	Q8NGL2	OR5L1_HUMAN	I	45	ENSP00000335529:M45I	ENSP00000335529:M45I	M	+	3	0	OR5L1	55335653	0.000000	0.05858	0.400000	0.26346	0.024000	0.10985	-0.384000	0.07389	1.975000	0.57531	0.435000	0.28638	ATG		PASS	0.488	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391514.1	NM_001004738		51	250	51	250	---	---	---	---
OR5D18	219438	broad.mit.edu	37	11	55587917	55587917	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr11:55587917C>A	ENST00000333976.4	+	1	832	c.812C>A	c.(811-813)aCa>aAa	p.T271K		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	271						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T271K(2)		NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				TCCAGGCACACAGTCAAAGTG	0.507																																						uc010rin.1																			2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)	3						c.(811-813)ACA>AAA		olfactory receptor, family 5, subfamily D,							89.0	86.0	87.0					11																	55587917		2200	4296	6496	SO:0001583	missense	219438				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55587917C>A	AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"""GPCR / Class A : Olfactory receptors"""	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.812C>A	11.37:g.55587917C>A	ENSP00000335025:p.Thr271Lys						p.T271K	NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN			1	812	+		all_epithelial(135;0.208)	271			Extracellular (Potential).		Q6IF67|Q6IFD3|Q96RB3	Missense_Mutation	SNP	ENST00000333976.4	37	c.812C>A	CCDS31510.1	.	.	.	.	.	.	.	.	.	.	.	10.47	1.359836	0.24598	.	.	ENSG00000186119	ENST00000333976	T	0.00099	8.73	4.82	3.83	0.44106	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40640	N	0.001058	T	0.00144	0.0004	N	0.10972	0.075	0.31909	N	0.614918	B	0.33904	0.431	B	0.42593	0.392	T	0.65639	-0.6119	10	0.52906	T	0.07	-3.602	12.9205	0.58230	0.1629:0.8371:0.0:0.0	.	271	Q8NGL1	OR5DI_HUMAN	K	271	ENSP00000335025:T271K	ENSP00000335025:T271K	T	+	2	0	OR5D18	55344493	0.000000	0.05858	0.918000	0.36340	0.301000	0.27625	-1.923000	0.01567	2.413000	0.81919	0.573000	0.79308	ACA		PASS	0.507	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1	NM_001001952		19	96	19	96	---	---	---	---
SERPING1	710	broad.mit.edu	37	11	57379296	57379296	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr11:57379296T>C	ENST00000278407.4	+	7	1363	c.1136T>C	c.(1135-1137)tTc>tCc	p.F379S	SERPING1_ENST00000378324.2_Missense_Mutation_p.F327S|SERPING1_ENST00000378323.4_Missense_Mutation_p.F384S|SERPING1_ENST00000340687.6_Intron|SERPING1_ENST00000403558.1_Missense_Mutation_p.F422S	NM_000062.2	NP_000053.2	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	379					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|complement activation, classical pathway (GO:0006958)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.F379S(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						CCTTCTGTTTTCAAGGCCATC	0.512																																						uc001nkp.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1	GRCh37	CM053415	SERPING1	M		c.(1135-1137)TTC>TCC		serpin peptidase inhibitor, clade G, member 1							139.0	130.0	133.0					11																	57379296		2201	4296	6497	SO:0001583	missense	710	Hereditary_Angioedema			blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity	g.chr11:57379296T>C	X54486	CCDS7962.1	11q12.1	2014-09-17	2008-07-31		ENSG00000149131	ENSG00000149131		"""Serine (or cysteine) peptidase inhibitors"""	1228	protein-coding gene	gene with protein product	"""plasma protease C1 inhibitor"", ""angioedema, hereditary"""	606860	"""serine (or cysteine) proteinase inhibitor, clade G (C1 inhibitor), member 1, (angioedema, hereditary)"""	C1NH		2026152, 24172014	Standard	NM_000062		Approved	C1IN, C1-INH, HAE1, HAE2	uc001nkp.1	P05155	OTTHUMG00000150304	ENST00000278407.4:c.1136T>C	11.37:g.57379296T>C	ENSP00000278407:p.Phe379Ser					SERPING1_uc001nkq.1_Intron|SERPING1_uc010rju.1_Missense_Mutation_p.F327S|SERPING1_uc010rjv.1_Missense_Mutation_p.F384S|SERPING1_uc001nkr.1_Missense_Mutation_p.F379S|SERPING1_uc009ymi.1_Missense_Mutation_p.F388S|SERPING1_uc009ymj.1_Intron|SERPING1_uc001nks.1_Missense_Mutation_p.F70S	p.F379S	NM_000062	NP_000053	P05155	IC1_HUMAN			7	1327	+			379					A6NMU0|A8KAI9|B2R6L5|B4E1F0|B4E1H2|Q16304|Q547W3|Q59EI5|Q7Z455|Q96FE0|Q9UC49|Q9UCF9	Missense_Mutation	SNP	ENST00000278407.4	37	c.1136T>C	CCDS7962.1	.	.	.	.	.	.	.	.	.	.	T	14.67	2.604053	0.46423	.	.	ENSG00000149131	ENST00000278407;ENST00000378323;ENST00000378324;ENST00000403558	D;D;D;D	0.88431	-2.38;-2.38;-2.38;-2.38	4.69	4.69	0.59074	Serpin domain (3);	0.441437	0.24580	N	0.037313	D	0.93841	0.8030	M	0.81802	2.56	0.36572	D	0.873048	D;D	0.76494	0.999;0.999	D;D	0.76071	0.987;0.987	D	0.95966	0.8966	10	0.87932	D	0	.	11.9554	0.52978	0.0:0.0:0.0:1.0	.	384;379	B4E1F0;P05155	.;IC1_HUMAN	S	379;384;327;422	ENSP00000278407:F379S;ENSP00000367574:F384S;ENSP00000367575:F327S;ENSP00000384420:F422S	ENSP00000278407:F379S	F	+	2	0	SERPING1	57135872	0.997000	0.39634	0.713000	0.30519	0.153000	0.21895	4.434000	0.59935	1.881000	0.54492	0.459000	0.35465	TTC		PASS	0.512	SERPING1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317465.1	NM_000062		5	159	5	159	---	---	---	---
OR5B12	390191	broad.mit.edu	37	11	58207460	58207460	+	Silent	SNP	G	G	T			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr11:58207460G>T	ENST00000302572.2	-	1	186	c.165C>A	c.(163-165)acC>acA	p.T55T		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	55						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T55T(1)		large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AGTACATGGGGGTGTGGAGAC	0.483																																						uc010rkh.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(163-165)ACC>ACA		olfactory receptor, family 5, subfamily B,							65.0	70.0	68.0					11																	58207460		2201	4295	6496	SO:0001819	synonymous_variant	390191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58207460G>T	AB065851	CCDS31551.1	11q12.1	2012-08-09		2004-03-10	ENSG00000172362	ENSG00000172362		"""GPCR / Class A : Olfactory receptors"""	15432	protein-coding gene	gene with protein product				OR5B12P, OR5B16		12213199	Standard	NM_001004733		Approved	OST743	uc010rkh.2	Q96R08	OTTHUMG00000167543	ENST00000302572.2:c.165C>A	11.37:g.58207460G>T							p.T55T	NM_001004733	NP_001004733	Q96R08	OR5BC_HUMAN			1	165	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	55			Helical; Name=2; (Potential).		B2RNL2|Q6IEV5	Silent	SNP	ENST00000302572.2	37	c.165C>A	CCDS31551.1																																																																																				PASS	0.483	OR5B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394987.1	NM_001004733		10	49	10	49	---	---	---	---
MS4A6E	245802	broad.mit.edu	37	11	60107344	60107344	+	Silent	SNP	T	T	A			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr11:60107344T>A	ENST00000300182.4	+	3	425	c.360T>A	c.(358-360)acT>acA	p.T120T		NM_139249.2	NP_640342.1	Q96DS6	M4A6E_HUMAN	membrane-spanning 4-domains, subfamily A, member 6E	120						integral component of membrane (GO:0016021)		p.T120T(1)		endometrium(2)|kidney(1)|lung(9)|stomach(1)	13						TTCAGGGAACTCTGTCTCTGA	0.478																																						uc001npd.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(358-360)ACT>ACA		membrane-spanning 4-domains, subfamily A, member							256.0	242.0	247.0					11																	60107344		2203	4300	6503	SO:0001819	synonymous_variant	245802					integral to membrane	receptor activity	g.chr11:60107344T>A	AF354931	CCDS7984.1	11q12	2008-03-25				ENSG00000166926			14285	protein-coding gene	gene with protein product		608402				11486273	Standard	NM_139249		Approved		uc001npd.3	Q96DS6		ENST00000300182.4:c.360T>A	11.37:g.60107344T>A							p.T120T	NM_139249	NP_640342	Q96DS6	M4A6E_HUMAN			3	374	+			120			Extracellular (Potential).		Q3MIL2|Q8NE56|Q96PG4|Q96PG5	Silent	SNP	ENST00000300182.4	37	c.360T>A	CCDS7984.1																																																																																				PASS	0.478	MS4A6E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394296.1			6	265	6	265	---	---	---	---
MS4A12	54860	broad.mit.edu	37	11	60269474	60269474	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr11:60269474C>A	ENST00000016913.4	+	4	490	c.433C>A	c.(433-435)Ctc>Atc	p.L145I	MS4A12_ENST00000537076.1_Missense_Mutation_p.L99I	NM_017716.2	NP_060186.2	Q9NXJ0	M4A12_HUMAN	membrane-spanning 4-domains, subfamily A, member 12	145						integral component of membrane (GO:0016021)		p.L145I(1)		breast(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)	17						CTCTGGCTCTCTCTCTGTGTC	0.393																																						uc001npr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(433-435)CTC>ATC		membrane-spanning 4-domains, subfamily A, member							227.0	218.0	221.0					11																	60269474		2203	4300	6503	SO:0001583	missense	54860					integral to membrane	receptor activity	g.chr11:60269474C>A	AK000224	CCDS7988.1, CCDS53638.1	11q12	2008-03-25				ENSG00000071203			13370	protein-coding gene	gene with protein product		606550				11401424, 11486273	Standard	NM_017716		Approved	Ms4a10, FLJ20217	uc001npr.3	Q9NXJ0		ENST00000016913.4:c.433C>A	11.37:g.60269474C>A	ENSP00000016913:p.Leu145Ile						p.L145I	NM_017716	NP_060186	Q9NXJ0	M4A12_HUMAN			4	490	+			145			Cytoplasmic (Potential).		F5GX98|Q8N6L4	Missense_Mutation	SNP	ENST00000016913.4	37	c.433C>A	CCDS7988.1	.	.	.	.	.	.	.	.	.	.	C	14.63	2.594272	0.46214	.	.	ENSG00000071203	ENST00000537076;ENST00000526784;ENST00000016913	T;T;T	0.04275	3.66;3.66;3.66	5.36	-0.0961	0.13638	.	0.534882	0.18078	N	0.152393	T	0.11879	0.0289	M	0.88181	2.935	0.09310	N	1	P	0.47484	0.896	P	0.49853	0.624	T	0.07347	-1.0777	10	0.56958	D	0.05	.	3.8701	0.09033	0.287:0.4606:0.0:0.2524	.	145	Q9NXJ0	M4A12_HUMAN	I	99;99;145	ENSP00000440424:L99I;ENSP00000431959:L99I;ENSP00000016913:L145I	ENSP00000016913:L145I	L	+	1	0	MS4A12	60026050	0.053000	0.20554	0.000000	0.03702	0.006000	0.05464	0.647000	0.24812	0.018000	0.15052	-0.140000	0.14226	CTC		PASS	0.393	MS4A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383627.1			8	184	8	184	---	---	---	---
PCF11	51585	broad.mit.edu	37	11	82881007	82881007	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr11:82881007G>T	ENST00000298281.4	+	8	4082	c.3630G>T	c.(3628-3630)atG>atT	p.M1210I		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	1210					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|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)	mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)		p.M1210I(1)|p.M1309I(1)		cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						CTGCTCCAATGACAGTAGGAA	0.348																																						uc001ozx.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(3628-3630)ATG>ATT		pre-mRNA cleavage complex II protein Pcf11							16.0	15.0	15.0					11																	82881007		1823	4052	5875	SO:0001583	missense	51585				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex		g.chr11:82881007G>T	AB020631	CCDS44689.1	11q13	2013-07-02	2013-07-02		ENSG00000165494	ENSG00000165494			30097	protein-coding gene	gene with protein product		608876	"""PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae)"", ""PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)"""			11060040	Standard	NM_015885		Approved	KIAA0824	uc001ozx.4	O94913	OTTHUMG00000167031	ENST00000298281.4:c.3630G>T	11.37:g.82881007G>T	ENSP00000298281:p.Met1210Ile					PCF11_uc010rsu.1_Missense_Mutation_p.M1341I	p.M1210I	NM_015885	NP_056969	O94913	PCF11_HUMAN			8	3975	+			1210					A6H8W7|O43671|Q6P0X8	Missense_Mutation	SNP	ENST00000298281.4	37	c.3630G>T	CCDS44689.1	.	.	.	.	.	.	.	.	.	.	G	0.980	-0.697251	0.03279	.	.	ENSG00000165494	ENST00000298281	T	0.21361	2.01	6.08	-5.78	0.02362	.	1.089530	0.06992	N	0.821701	T	0.08447	0.0210	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42649	-0.9439	9	.	.	.	2.7495	11.567	0.50811	0.2123:0.0:0.6565:0.1312	.	1210	O94913	PCF11_HUMAN	I	1210	ENSP00000298281:M1210I	.	M	+	3	0	PCF11	82558655	0.010000	0.17322	0.079000	0.20413	0.970000	0.65996	-0.387000	0.07361	-0.586000	0.05898	-0.469000	0.05056	ATG		PASS	0.348	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392548.2	NM_015885		4	24	4	24	---	---	---	---
SYTL2	54843	broad.mit.edu	37	11	85445732	85445732	+	Nonsense_Mutation	SNP	T	T	A			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr11:85445732T>A	ENST00000528231.1	-	6	914	c.637A>T	c.(637-639)Aag>Tag	p.K213*	SYTL2_ENST00000524452.1_Nonsense_Mutation_p.K213*|SYTL2_ENST00000527523.1_Nonsense_Mutation_p.K165*|SYTL2_ENST00000316356.4_Nonsense_Mutation_p.K214*|SYTL2_ENST00000389960.4_Nonsense_Mutation_p.K213*	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	213					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)	p.K214*(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		TTCTCTAACTTTTGGATTGAA	0.373																																						uc010rth.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(637-639)AAG>TAG		synaptotagmin-like 2 isoform g							97.0	96.0	96.0					11																	85445732		2203	4299	6502	SO:0001587	stop_gained	54843				intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding	g.chr11:85445732T>A	AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"""chromosome 11 synaptotagmin"", ""breast cancer-associated antigen SGA-72M"", ""protein phosphatase 1, regulatory subunit 151"""	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.637A>T	11.37:g.85445732T>A	ENSP00000431701:p.Lys213*					SYTL2_uc010rtg.1_Nonsense_Mutation_p.K214*|SYTL2_uc010rti.1_Nonsense_Mutation_p.K213*|SYTL2_uc010rtj.1_Nonsense_Mutation_p.K165*|SYTL2_uc001pbf.3_Nonsense_Mutation_p.K213*|SYTL2_uc010rtf.1_Nonsense_Mutation_p.K71*	p.K213*	NM_001162951	NP_001156423	Q9HCH5	SYTL2_HUMAN		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)	6	913	-		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)	213					B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Nonsense_Mutation	SNP	ENST00000528231.1	37	c.637A>T	CCDS53688.1	.	.	.	.	.	.	.	.	.	.	T	15.38	2.817931	0.50633	.	.	ENSG00000137501	ENST00000389960;ENST00000316356;ENST00000528231;ENST00000527523;ENST00000524452	.	.	.	5.36	4.21	0.49690	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.8878	0.24212	0.0:0.0748:0.2879:0.6373	.	.	.	.	X	213;214;213;165;213	.	.	K	-	1	0	SYTL2	85123380	0.010000	0.17322	0.095000	0.20976	0.009000	0.06853	0.736000	0.26130	1.011000	0.39340	0.528000	0.53228	AAG		PASS	0.373	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392192.1	NM_206927		9	89	9	89	---	---	---	---
PRSS23	11098	broad.mit.edu	37	11	86519238	86519238	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr11:86519238A>G	ENST00000280258.5	+	2	978	c.553A>G	c.(553-555)Aaa>Gaa	p.K185E	PRSS23_ENST00000441050.1_Missense_Mutation_p.K153E|PRSS23_ENST00000533902.2_Intron	NM_007173.4	NP_009104.1	O95084	PRS23_HUMAN	protease, serine, 23	185						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)	p.K185E(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AACCTATGTGAAAGGAACCCA	0.537																																						uc001pcb.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|pancreas(1)	2						c.(553-555)AAA>GAA		protease, serine, 23 precursor							44.0	45.0	45.0					11																	86519238		2201	4299	6500	SO:0001583	missense	11098				proteolysis	extracellular region|nucleus	serine-type endopeptidase activity	g.chr11:86519238A>G	AF015287	CCDS8278.1	11q14.2	2010-05-12			ENSG00000150687	ENSG00000150687		"""Serine peptidases / Serine peptidases"""	14370	protein-coding gene	gene with protein product							Standard	XM_005273727		Approved	SPUVE, SIG13	uc001pcb.3	O95084		ENST00000280258.5:c.553A>G	11.37:g.86519238A>G	ENSP00000280258:p.Lys185Glu					PRSS23_uc001pcc.1_Intron|PRSS23_uc010rts.1_Missense_Mutation_p.K153E	p.K185E	NM_007173	NP_009104	O95084	PRS23_HUMAN			2	769	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	185					B2RDJ1|B4E2J3|Q6IBI0	Missense_Mutation	SNP	ENST00000280258.5	37	c.553A>G	CCDS8278.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.058419	0.76074	.	.	ENSG00000150687	ENST00000280258;ENST00000441050	T;T	0.42513	0.97;0.97	6.06	4.94	0.65067	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (2);	0.043799	0.85682	N	0.000000	T	0.46288	0.1385	M	0.80616	2.505	0.80722	D	1	B;B	0.23442	0.085;0.085	B;B	0.26693	0.072;0.072	T	0.37888	-0.9686	9	.	.	.	-15.3868	11.9271	0.52825	0.9328:0.0:0.0672:0.0	.	153;185	B4E2J3;O95084	.;PRS23_HUMAN	E	185;153	ENSP00000280258:K185E;ENSP00000393015:K153E	.	K	+	1	0	PRSS23	86196886	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.846000	0.92159	1.119000	0.41883	0.533000	0.62120	AAA		PASS	0.537	PRSS23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393805.2	NM_007173		6	64	6	64	---	---	---	---
NOX4	50507	broad.mit.edu	37	11	89075240	89075240	+	Splice_Site	SNP	A	A	G			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr11:89075240A>G	ENST00000263317.4	-	14	1576		c.e14+1		NOX4_ENST00000531342.1_Intron|NOX4_ENST00000534731.1_Intron|NOX4_ENST00000375979.3_Splice_Site|NOX4_ENST00000535633.1_Splice_Site|NOX4_ENST00000528341.1_Splice_Site|NOX4_ENST00000527626.1_Splice_Site|NOX4_ENST00000532825.1_Intron|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000542487.1_Splice_Site|NOX4_ENST00000424319.1_Splice_Site|NOX4_ENST00000343727.5_Splice_Site|NOX4_ENST00000527956.1_Splice_Site|NOX4_ENST00000413594.2_Splice_Site			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4						bone resorption (GO:0045453)|cardiac muscle cell differentiation (GO:0055007)|cell aging (GO:0007569)|cell morphogenesis (GO:0000902)|cellular response to cAMP (GO:0071320)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to transforming growth factor beta stimulus (GO:0071560)|homocysteine metabolic process (GO:0050667)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)|superoxide anion generation (GO:0042554)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|modified amino acid binding (GO:0072341)|NAD(P)H oxidase activity (GO:0016174)|nucleotide binding (GO:0000166)|oxygen sensor activity (GO:0019826)|superoxide-generating NADPH oxidase activity (GO:0016175)	p.?(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				AAAATGACATACAACAGGGTG	0.358																																						uc001pct.2																			1	Unknown(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.e14+1		NADPH oxidase 4 isoform a							73.0	67.0	69.0					11																	89075240		2201	4299	6500	SO:0001630	splice_region_variant	50507				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity	g.chr11:89075240A>G	AF254621	CCDS8285.1, CCDS44695.1, CCDS44696.1, CCDS73361.1, CCDS73362.1	11q14.2-q21	2008-02-05			ENSG00000086991	ENSG00000086991			7891	protein-coding gene	gene with protein product		605261					Standard	NM_001143837		Approved	KOX-1, KOX	uc001pct.3	Q9NPH5	OTTHUMG00000167298	ENST00000263317.4:c.1337+1T>C	11.37:g.89075240A>G						NOX4_uc009yvr.2_Splice_Site_p.L421_splice|NOX4_uc001pcu.2_Splice_Site_p.L372_splice|NOX4_uc001pcw.2_Splice_Site_p.L139_splice|NOX4_uc001pcx.2_Intron|NOX4_uc001pcv.2_Intron|NOX4_uc009yvo.2_Splice_Site|NOX4_uc010rtu.1_Splice_Site_p.L280_splice|NOX4_uc009yvp.2_Intron|NOX4_uc010rtv.1_Intron|NOX4_uc009yvq.2_Splice_Site_p.L422_splice	p.L446_splice	NM_016931	NP_058627	Q9NPH5	NOX4_HUMAN			14	1576	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)						A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	Splice_Site	SNP	ENST00000263317.4	37	c.1337_splice	CCDS8285.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.954941	0.73902	.	.	ENSG00000086991	ENST00000424319;ENST00000535633;ENST00000343727;ENST00000263317;ENST00000527956;ENST00000542487;ENST00000527626;ENST00000528341;ENST00000413594;ENST00000375979	.	.	.	5.18	5.18	0.71444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6857	0.69047	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NOX4	88714888	1.000000	0.71417	1.000000	0.80357	0.784000	0.44337	8.578000	0.90777	1.945000	0.56424	0.379000	0.24179	.		PASS	0.358	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394054.1	NM_016931	Intron	5	59	5	59	---	---	---	---
ATM	472	broad.mit.edu	37	11	108235917	108235917	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr11:108235917G>T	ENST00000452508.2	+	63	9148	c.8959G>T	c.(8959-8961)Gat>Tat	p.D2987Y	ATM_ENST00000525178.1_3'UTR|C11orf65_ENST00000526725.1_Intron|C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Missense_Mutation_p.D2987Y			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2987					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.D2987Y(2)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	TCTGAATGCAGATGACCAAGA	0.403			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												uc001pkb.1			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	D|Mis|N|F|S	ataxia telangiectasia mutated			"""L, O"""		leukemia|lymphoma|medulloblastoma|glioma	T-PLL		2	Substitution - Missense(2)		lung(2)	haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240						c.(8959-8961)GAT>TAT	Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	ataxia telangiectasia mutated isoform 1							132.0	124.0	127.0					11																	108235917		2201	4298	6499	SO:0001583	missense	472	Ataxia_Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108235917G>T	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.8959G>T	11.37:g.108235917G>T	ENSP00000388058:p.Asp2987Tyr	TSP Lung(14;0.12)				ATM_uc009yxr.1_Missense_Mutation_p.D2987Y|C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.1_Intron|ATM_uc001pke.1_Missense_Mutation_p.D1639Y	p.D2987Y	NM_000051	NP_000042	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	62	9344	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	2987					B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.8959G>T	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.990776	0.74589	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	T;T	0.01629	4.72;4.72	5.52	4.58	0.56647	Phosphatidylinositol 3-/4-kinase, catalytic (2);	0.308196	0.34484	N	0.003938	T	0.03136	0.0092	L	0.53249	1.67	0.80722	D	1	B	0.31790	0.34	B	0.31101	0.124	T	0.51172	-0.8739	10	0.56958	D	0.05	.	16.44	0.83896	0.0:0.1309:0.8691:0.0	.	2987	Q13315	ATM_HUMAN	Y	2987	ENSP00000278616:D2987Y;ENSP00000388058:D2987Y	ENSP00000278616:D2987Y	D	+	1	0	ATM	107741127	1.000000	0.71417	0.987000	0.45799	0.836000	0.47400	5.900000	0.69853	2.609000	0.88269	0.650000	0.86243	GAT		PASS	0.403	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		7	63	7	63	---	---	---	---
VWA5A	4013	broad.mit.edu	37	11	123993736	123993736	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr11:123993736A>T	ENST00000456829.2	+	8	1081	c.830A>T	c.(829-831)aAt>aTt	p.N277I	VWA5A_ENST00000449321.1_Missense_Mutation_p.N277I|VWA5A_ENST00000361352.5_Missense_Mutation_p.N277I|VWA5A_ENST00000392744.4_Missense_Mutation_p.N293I|VWA5A_ENST00000392748.1_Missense_Mutation_p.N277I|VWA5A_ENST00000360334.4_Missense_Mutation_p.N277I	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	277								p.N277I(1)		autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						CAACCATCAAATACCTGTGGA	0.463																																						uc001pzu.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(829-831)AAT>ATT		BCSC-1 isoform 1							66.0	66.0	66.0					11																	123993736		2201	4299	6500	SO:0001583	missense	4013							g.chr11:123993736A>T	AF002672	CCDS8444.1, CCDS8445.1	11q24.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000110002	ENSG00000110002			6658	protein-coding gene	gene with protein product		602929	"""loss of heterozygosity, 11, chromosomal region 2, gene A"""	LOH11CR2A		9417908, 14504409	Standard	NM_001130142		Approved	BCSC-1	uc001pzt.3	O00534	OTTHUMG00000165971	ENST00000456829.2:c.830A>T	11.37:g.123993736A>T	ENSP00000407726:p.Asn277Ile					VWA5A_uc001pzr.2_Missense_Mutation_p.N277I|VWA5A_uc001pzs.2_Missense_Mutation_p.N277I|VWA5A_uc010sae.1_Missense_Mutation_p.N293I|VWA5A_uc001pzt.2_Missense_Mutation_p.N277I	p.N277I	NM_001130142	NP_001123614	O00534	VMA5A_HUMAN			8	1039	+			277					Q6UN19|Q6UN20|Q9BVF8	Missense_Mutation	SNP	ENST00000456829.2	37	c.830A>T	CCDS8444.1	.	.	.	.	.	.	.	.	.	.	A	9.111	1.006618	0.19199	.	.	ENSG00000110002	ENST00000456829;ENST00000360334;ENST00000392748;ENST00000361352;ENST00000449321;ENST00000392744	T;T;T;T;T;T	0.23348	3.75;1.91;3.75;2.27;2.27;2.26	5.77	-11.5	0.00074	.	1.351940	0.04343	N	0.354405	T	0.07052	0.0179	N	0.02011	-0.69	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.08055	0.002;0.003	T	0.27088	-1.0084	10	0.33940	T	0.23	0.2327	5.5634	0.17157	0.1953:0.4952:0.1853:0.1242	.	293;277	B4DHS6;O00534	.;VMA5A_HUMAN	I	277;277;277;277;277;293	ENSP00000407726:N277I;ENSP00000353485:N277I;ENSP00000376504:N277I;ENSP00000355070:N277I;ENSP00000404683:N277I;ENSP00000376501:N293I	ENSP00000353485:N277I	N	+	2	0	VWA5A	123498946	0.000000	0.05858	0.000000	0.03702	0.085000	0.17905	-1.769000	0.01792	-1.802000	0.01244	-0.316000	0.08728	AAT		PASS	0.463	VWA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387273.1	NM_014622		4	72	4	72	---	---	---	---
HEPN1	641654	broad.mit.edu	37	11	124792701	124792701	+	IGR	SNP	G	G	T			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr11:124792701G>T	ENST00000408930.5	+	0	1428				HEPACAM_ENST00000298251.4_Missense_Mutation_p.L273I	NM_001037558.2	NP_001032647.2	Q6WQI6	HEPN1_HUMAN	hepatocellular carcinoma, down-regulated 1							cytoplasm (GO:0005737)		p.L273I(1)		large_intestine(1)|lung(1)|stomach(1)	3	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0287)		TGCTTTTCTAGCTTCTTCTGT	0.483																																						uc001qbk.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(817-819)CTA>ATA		hepatocyte cell adhesion molecule precursor							258.0	218.0	231.0					11																	124792701		2201	4299	6500	SO:0001628	intergenic_variant	220296				cell adhesion|cell cycle arrest|regulation of growth	cytoplasm|integral to membrane		g.chr11:124792701G>T	BC148521	CCDS41729.1	11q24	2013-07-02	2011-02-11		ENSG00000221932	ENSG00000221932			34400	protein-coding gene	gene with protein product	"""cancer susceptibility gene HEPN1"""	611641	"""HEPACAM opposite strand 1"""			12971969, 23548416	Standard	NM_001037558		Approved		uc001qbj.1	Q6WQI6	OTTHUMG00000165939		11.37:g.124792701G>T						HEPACAM_uc009zbj.2_5'UTR|HEPACAM_uc001qbl.1_Missense_Mutation_p.L273I	p.L273I	NM_152722	NP_689935	Q14CZ8	HECAM_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)	5	1223	-	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	273			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000408930.5	37	c.817C>A	CCDS41729.1	.	.	.	.	.	.	.	.	.	.	G	11.92	1.781788	0.31502	.	.	ENSG00000165478	ENST00000298251;ENST00000374961	T	0.45276	0.9	5.88	-0.563	0.11778	.	0.916624	0.09433	N	0.802790	T	0.20251	0.0487	N	0.14661	0.345	0.26658	N	0.97197	B;B	0.24426	0.103;0.006	B;B	0.25140	0.058;0.006	T	0.22591	-1.0212	10	0.33940	T	0.23	-12.0472	0.315	0.00294	0.3259:0.2098:0.2503:0.214	.	273;273	Q14CZ8-2;Q14CZ8	.;HECAM_HUMAN	I	273	ENSP00000298251:L273I	ENSP00000298251:L273I	L	-	1	2	HEPACAM	124297911	0.556000	0.26538	0.961000	0.40146	0.670000	0.39368	-0.147000	0.10234	-0.363000	0.08101	-0.140000	0.14226	CTA		PASS	0.483	HEPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387129.1	NM_001037558		6	156	6	156	---	---	---	---
ST3GAL4	6484	broad.mit.edu	37	11	126277527	126277527	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr11:126277527G>C	ENST00000526727.1	+	5	713	c.339G>C	c.(337-339)caG>caC	p.Q113H	ST3GAL4_ENST00000532243.1_Missense_Mutation_p.Q112H|ST3GAL4_ENST00000356132.4_Missense_Mutation_p.Q119H|ST3GAL4_ENST00000227495.6_Missense_Mutation_p.Q109H|ST3GAL4_ENST00000449406.2_Missense_Mutation_p.Q102H|ST3GAL4_ENST00000534083.1_Missense_Mutation_p.Q113H|ST3GAL4_ENST00000526756.1_3'UTR|ST3GAL4_ENST00000530591.1_Missense_Mutation_p.Q109H|ST3GAL4_ENST00000392669.2_Missense_Mutation_p.Q113H|ST3GAL4_ENST00000534457.1_Missense_Mutation_p.Q108H|ST3GAL4_ENST00000444328.2_Missense_Mutation_p.Q113H			Q11206	SIA4C_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 4	113					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)|monosialoganglioside sialyltransferase activity (GO:0047288)	p.Q109H(1)		endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767)		AGAACATCCAGAGGTAAGGCG	0.607																																						uc001qds.2																			1	Substitution - Missense(1)		lung(1)		0						c.(337-339)CAG>CAC		ST3 beta-galactoside alpha-2,3-sialyltransferase							177.0	174.0	175.0					11																	126277527		2201	4298	6499	SO:0001583	missense	6484				post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity	g.chr11:126277527G>C	X74570	CCDS8474.1, CCDS58193.1, CCDS58194.1	11q23-q24	2013-03-01	2003-01-14	2005-02-07	ENSG00000110080	ENSG00000110080	2.4.99.4	"""Sialyltransferases"""	10864	protein-coding gene	gene with protein product	"""ST3Gal IV"""	104240	"""sialyltransferase 4C (beta-galactosidase alpha-2,3-sialytransferase)"""	CGS23, SIAT4, NANTA3, SIAT4C		8557707, 8288606	Standard	NM_006278		Approved	STZ, SAT3, FLJ11867	uc001qds.3	Q11206	OTTHUMG00000165830	ENST00000526727.1:c.339G>C	11.37:g.126277527G>C	ENSP00000436047:p.Gln113His					ST3GAL4_uc001qdt.2_Missense_Mutation_p.Q109H|ST3GAL4_uc009zcc.2_Intron|ST3GAL4_uc009zcd.2_Missense_Mutation_p.Q102H|ST3GAL4_uc001qdu.2_Missense_Mutation_p.Q109H|ST3GAL4_uc001qdv.2_Missense_Mutation_p.Q113H|ST3GAL4_uc009zce.2_Missense_Mutation_p.Q109H|ST3GAL4_uc001qdw.2_Missense_Mutation_p.Q102H|ST3GAL4_uc001qdx.1_Missense_Mutation_p.Q102H|ST3GAL4_uc001qdy.2_5'UTR|ST3GAL4_uc001qdz.2_5'UTR	p.Q113H	NM_006278	NP_006269	Q11206	SIA4C_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767)	6	558	+	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138)	113			Lumenal (Potential).		A8K6B2|O60497|Q8N6A6|Q8NFG7|Q96QQ9	Missense_Mutation	SNP	ENST00000526727.1	37	c.339G>C	CCDS58193.1	.	.	.	.	.	.	.	.	.	.	G	18.59	3.657497	0.67586	.	.	ENSG00000110080	ENST00000227495;ENST00000444328;ENST00000356132;ENST00000530591;ENST00000534083;ENST00000528858;ENST00000392669;ENST00000526727;ENST00000449406;ENST00000532243;ENST00000534457	T;T;T;T;T;T;T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5	5.79	3.92	0.45320	.	0.271796	0.41605	D	0.000842	T	0.40040	0.1101	L	0.38175	1.15	0.32906	D	0.513859	D;P;P	0.65815	0.995;0.703;0.703	D;P;P	0.65443	0.935;0.663;0.663	T	0.50693	-0.8798	10	0.46703	T	0.11	-17.8204	9.5294	0.39185	0.1632:0.0:0.8368:0.0	.	94;109;113	Q9HAA9;Q6IBE6;Q11206	.;.;SIA4C_HUMAN	H	109;113;119;109;113;113;113;113;102;112;108	ENSP00000227495:Q109H;ENSP00000394354:Q113H;ENSP00000348451:Q119H;ENSP00000433989:Q109H;ENSP00000433318:Q113H;ENSP00000432424:Q113H;ENSP00000376437:Q113H;ENSP00000436047:Q113H;ENSP00000399444:Q102H;ENSP00000434349:Q112H;ENSP00000434668:Q108H	ENSP00000227495:Q109H	Q	+	3	2	ST3GAL4	125782737	1.000000	0.71417	1.000000	0.80357	0.707000	0.40811	2.106000	0.41835	0.787000	0.33731	0.655000	0.94253	CAG		PASS	0.607	ST3GAL4-003	PUTATIVE	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386470.1	NM_006278		24	151	24	151	---	---	---	---
ARHGAP32	9743	broad.mit.edu	37	11	128844054	128844054	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr11:128844054T>C	ENST00000310343.9	-	20	2995	c.2996A>G	c.(2995-2997)cAg>cGg	p.Q999R	ARHGAP32_ENST00000392657.3_Missense_Mutation_p.Q650R|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.Q650R|ARHGAP32_ENST00000524655.1_Missense_Mutation_p.Q925R	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	999					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)	p.Q999R(1)|p.Q650R(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						AGCCTTACTCTGACTGCTTGA	0.478																																						uc009zcp.2																			2	Substitution - Missense(2)		lung(2)	lung(3)|ovary(2)	5						c.(2995-2997)CAG>CGG		Rho GTPase-activating protein isoform 1							109.0	112.0	111.0					11																	128844054		2201	4297	6498	SO:0001583	missense	9743				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	g.chr11:128844054T>C	AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"""Rho GTPase activating proteins"""	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.2996A>G	11.37:g.128844054T>C	ENSP00000310561:p.Gln999Arg					ARHGAP32_uc009zcq.1_Missense_Mutation_p.Q959R|ARHGAP32_uc009zco.2_5'UTR|ARHGAP32_uc001qez.2_Missense_Mutation_p.Q650R	p.Q999R	NM_001142685	NP_001136157	A7KAX9	RHG32_HUMAN			20	2996	-			999					I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Missense_Mutation	SNP	ENST00000310343.9	37	c.2996A>G	CCDS44769.1	.	.	.	.	.	.	.	.	.	.	T	17.02	3.282245	0.59867	.	.	ENSG00000134909	ENST00000310343;ENST00000392657;ENST00000524655;ENST00000457677;ENST00000527272	T;T;T;T	0.17528	2.27;2.27;2.96;2.27	5.86	5.86	0.93980	.	0.337294	0.33792	N	0.004549	T	0.19287	0.0463	L	0.59436	1.845	0.34179	D	0.670689	B;P	0.35433	0.139;0.501	B;B	0.29785	0.027;0.107	T	0.28554	-1.0040	10	0.62326	D	0.03	.	14.819	0.70055	0.0:0.0:0.0:1.0	.	933;999	Q86T64;A7KAX9	.;RHG32_HUMAN	R	999;650;925;933;650	ENSP00000310561:Q999R;ENSP00000376425:Q650R;ENSP00000432468:Q925R;ENSP00000432862:Q650R	ENSP00000310561:Q999R	Q	-	2	0	ARHGAP32	128349264	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.172000	0.65003	2.241000	0.73720	0.533000	0.62120	CAG		PASS	0.478	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715		9	124	9	124	---	---	---	---
ATN1	1822	broad.mit.edu	37	12	7050104	7050104	+	Silent	SNP	C	C	T			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr12:7050104C>T	ENST00000356654.4	+	8	3513	c.3276C>T	c.(3274-3276)atC>atT	p.I1092I	U47924.31_ENST00000607421.1_RNA|C12orf57_ENST00000537087.1_5'Flank|C12orf57_ENST00000544681.1_5'Flank|ATN1_ENST00000396684.2_Silent_p.I1092I|RNU7-1_ENST00000458811.1_RNA	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	1092					cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)	p.I1092I(1)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						TTACCCGGATCCCCTACCCAG	0.592																																						uc001qrw.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(2)|pancreas(1)|skin(1)	6						c.(3274-3276)ATC>ATT		atrophin-1							153.0	118.0	130.0					12																	7050104		2203	4300	6503	SO:0001819	synonymous_variant	1822				cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding	g.chr12:7050104C>T	U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"""dentatorubral-pallidoluysian atrophy (atrophin-1)"""	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.3276C>T	12.37:g.7050104C>T						ATN1_uc001qrx.1_Silent_p.I1092I|C12orf57_uc009zfj.1_5'Flank	p.I1092I	NM_001007026	NP_001007027	P54259	ATN1_HUMAN			8	3513	+			1092					Q99495|Q99621|Q9UEK7	Silent	SNP	ENST00000356654.4	37	c.3276C>T	CCDS31734.1																																																																																				PASS	0.592	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	NM_001940		10	74	10	74	---	---	---	---
AICDA	57379	broad.mit.edu	37	12	8757847	8757847	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr12:8757847G>C	ENST00000229335.6	-	3	494	c.391C>G	c.(391-393)Cgc>Ggc	p.R131G	AICDA_ENST00000537228.1_Missense_Mutation_p.R131G	NM_020661.2	NP_065712.1	Q9GZX7	AICDA_HUMAN	activation-induced cytidine deaminase	131					B cell differentiation (GO:0030183)|cellular response to lipopolysaccharide (GO:0071222)|DNA demethylation (GO:0080111)|isotype switching (GO:0045190)|mRNA processing (GO:0006397)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|somatic diversification of immunoglobulins (GO:0016445)|somatic hypermutation of immunoglobulin genes (GO:0016446)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cytidine deaminase activity (GO:0004126)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R131G(2)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16	Lung SC(5;0.184)					ACCCCGGCGCGGTGCAGCCGC	0.642																																					GBM(62;896 1067 5527 26594 30137)	uc001qur.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(391-393)CGC>GGC		activation-induced cytidine deaminase							19.0	21.0	20.0					12																	8757847		1905	4106	6011	SO:0001583	missense	57379	Immune_Deficiency_with_Hyper-IgM			B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing	cytoplasm	cytidine deaminase activity|protein binding|zinc ion binding	g.chr12:8757847G>C	AB040430	CCDS41747.1	12p13	2014-09-17			ENSG00000111732	ENSG00000111732		"""Apolipoprotein B mRNA editing enzymes"""	13203	protein-coding gene	gene with protein product		605257					Standard	NM_020661		Approved	HIGM2, CDA2, ARP2, AID	uc001qur.2	Q9GZX7	OTTHUMG00000168676	ENST00000229335.6:c.391C>G	12.37:g.8757847G>C	ENSP00000229335:p.Arg131Gly					AICDA_uc001qup.1_Missense_Mutation_p.R126G|AICDA_uc001quq.1_Missense_Mutation_p.R126G|AICDA_uc009zgd.1_Intron	p.R131G	NM_020661	NP_065712	Q9GZX7	AICDA_HUMAN			3	470	-	Lung SC(5;0.184)		131					Q6QJ81|Q8NFC1	Missense_Mutation	SNP	ENST00000229335.6	37	c.391C>G	CCDS41747.1	.	.	.	.	.	.	.	.	.	.	G	7.110	0.575833	0.13623	.	.	ENSG00000111732	ENST00000229335;ENST00000537228	T;T	0.66280	-0.2;-0.2	5.38	3.51	0.40186	APOBEC-like, C-terminal (1);Cytidine deaminase-like (1);	0.147419	0.64402	D	0.000015	T	0.53722	0.1814	L	0.31526	0.94	0.42436	D	0.992693	B;B;B	0.32010	0.351;0.351;0.351	B;B;B	0.38803	0.189;0.282;0.189	T	0.53151	-0.8479	10	0.49607	T	0.09	-17.8334	12.3606	0.55201	0.0:0.0:0.5565:0.4434	.	131;131;131	Q9GZX7;Q6QJ80;Q6QJ81	AICDA_HUMAN;.;.	G	131	ENSP00000229335:R131G;ENSP00000445691:R131G	ENSP00000229335:R131G	R	-	1	0	AICDA	8649114	1.000000	0.71417	0.970000	0.41538	0.010000	0.07245	3.656000	0.54467	0.609000	0.30018	-0.314000	0.08810	CGC		PASS	0.642	AICDA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400575.1	NM_020661		12	36	12	36	---	---	---	---
GRIN2B	2904	broad.mit.edu	37	12	13761674	13761675	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr12:13761674_13761675CC>TT	ENST00000609686.1	-	9	2081_2082	c.1872_1873GG>AA	c.(1870-1875)aaGGgg>aaAAgg	p.G625R		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	625					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.G625R(2)|p.K624K(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GAGGTGGTCCCCTTTGGGTTCT	0.53																																						uc001rbt.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12						c.(1873-1875)GGG>AGG|c.(1870-1872)AAG>AAA		N-methyl-D-aspartate receptor subunit 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)																																			SO:0001583	missense	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13761674C>T|g.chr12:13761675C>T		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.1872_1873delinsTT	12.37:g.13761674_13761675delinsTT	ENSP00000477455:p.Gly625Arg						p.G625R|p.K624K	NM_000834	NP_000825	Q13224	NMDE2_HUMAN			9	2052|2051	-			625|624			Cytoplasmic (Potential).		Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation|Silent	SNP	ENST00000609686.1	37	c.1873G>A|c.1872G>A	CCDS8662.1																																																																																				PASS	0.530	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			19	91|93	19	91	---	---	---	---
SLCO1B3	28234	broad.mit.edu	37	12	21032524	21032524	+	Silent	SNP	C	C	T	rs369799686		TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr12:21032524C>T	ENST00000381545.3	+	11	1509	c.1290C>T	c.(1288-1290)tgC>tgT	p.C430C	SLCO1B3_ENST00000553473.1_Silent_p.C430C|SLCO1B3_ENST00000261196.2_Silent_p.C430C|LST3_ENST00000381541.3_Intron|SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000540229.1_Silent_p.C430C	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	430					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)	p.C430C(3)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)				Atorvastatin(DB01076)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Digoxin(DB00390)|Docetaxel(DB01248)|Estradiol(DB00783)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Olmesartan(DB00275)|Ouabain(DB01092)|Paclitaxel(DB01229)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Rosuvastatin(DB01098)|Valsartan(DB00177)	CTCTAATCTGCGAAAGCAAAT	0.299																																						uc001rek.2																			3	Substitution - coding silent(3)		prostate(1)|ovary(1)|lung(1)	large_intestine(2)|ovary(1)|skin(1)	4						c.(1288-1290)TGC>TGT		solute carrier organic anion transporter family,		T		1,4405		0,1,2202	85.0	81.0	82.0		1290	3.3	0.5	12		82	0,8598		0,0,4299	no	coding-synonymous	SLCO1B3	NM_019844.2		0,1,6501	TT,TC,CC		0.0,0.0227,0.0077		430/703	21032524	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	28234				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21032524C>T		CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700		"""Solute carriers"""	10961	protein-coding gene	gene with protein product		605495	"""solute carrier family 21 (organic anion transporter), member 8"""	SLC21A8			Standard	NM_019844		Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.1290C>T	12.37:g.21032524C>T						SLCO1B3_uc001rel.2_Silent_p.C430C|SLCO1B3_uc010sil.1_Silent_p.C430C|LST-3TM12_uc010sim.1_Intron|SLCO1B3_uc001reo.2_Silent_p.C255C	p.C430C	NM_019844	NP_062818	Q9NPD5	SO1B3_HUMAN			10	1416	+	Esophageal squamous(101;0.149)		430			Extracellular (Potential).		E7EMT8|Q5JAR4	Silent	SNP	ENST00000381545.3	37	c.1290C>T	CCDS8684.1																																																																																				PASS	0.299	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401936.1	NM_019844		4	80	4	80	---	---	---	---
LRRK2	120892	broad.mit.edu	37	12	40704330	40704330	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr12:40704330A>G	ENST00000298910.7	+	31	4473	c.4415A>G	c.(4414-4416)gAa>gGa	p.E1472G		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1472	Roc. {ECO:0000255|PROSITE- ProRule:PRU00758}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)	p.E1472G(2)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				ATCACCAAGGAACTCCTGAAT	0.473																																						uc001rmg.3																			2	Substitution - Missense(2)		lung(2)	ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24						c.(4414-4416)GAA>GGA		leucine-rich repeat kinase 2							175.0	169.0	171.0					12																	40704330		2203	4300	6503	SO:0001583	missense	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40704330A>G	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.4415A>G	12.37:g.40704330A>G	ENSP00000298910:p.Glu1472Gly					LRRK2_uc009zjw.2_Missense_Mutation_p.E310G|LRRK2_uc001rmi.2_Missense_Mutation_p.E305G	p.E1472G	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN			31	4536	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	1472			Roc.		A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	c.4415A>G	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.434429	0.83776	.	.	ENSG00000188906	ENST00000298910	D	0.81499	-1.5	5.63	5.63	0.86233	ROC GTPase (1);Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85274	0.5659	L	0.40543	1.245	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.70716	0.957;0.97	D	0.85881	0.1422	10	0.51188	T	0.08	.	15.8391	0.78831	1.0:0.0:0.0:0.0	.	1472;1472	Q17RV3;Q5S007	.;LRRK2_HUMAN	G	1472	ENSP00000298910:E1472G	ENSP00000298910:E1472G	E	+	2	0	LRRK2	38990597	1.000000	0.71417	0.986000	0.45419	0.837000	0.47467	8.431000	0.90285	2.144000	0.66660	0.528000	0.53228	GAA		PASS	0.473	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		37	201	37	201	---	---	---	---
KRT1	3848	broad.mit.edu	37	12	53074075	53074075	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr12:53074075C>A	ENST00000252244.3	-	1	116	c.58G>T	c.(58-60)Ggc>Tgc	p.G20C		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	20	Gly/Phe/Ser-rich.|Head.				complement activation, lectin pathway (GO:0001867)|establishment of skin barrier (GO:0061436)|fibrinolysis (GO:0042730)|negative regulation of inflammatory response (GO:0050728)|regulation of angiogenesis (GO:0045765)|response to oxidative stress (GO:0006979)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|structural molecule activity (GO:0005198)	p.G20C(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						CCAGCAGAGCCAGAGCTGAAG	0.557																																						uc001sau.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(58-60)GGC>TGC		keratin 1							74.0	81.0	79.0					12																	53074075		2203	4300	6503	SO:0001583	missense	3848				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding	g.chr12:53074075C>A	X69725	CCDS8836.1	12q13.13	2014-06-05	2008-08-01		ENSG00000167768	ENSG00000167768		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6412	protein-coding gene	gene with protein product		139350	"""epidermolytic hyperkeratosis 1"""	EHK1		2461420, 2470667, 16831889	Standard	NM_006121		Approved	KRT1A	uc001sau.1	P04264	OTTHUMG00000169749	ENST00000252244.3:c.58G>T	12.37:g.53074075C>A	ENSP00000252244:p.Gly20Cys					KRT1_uc001sav.1_Missense_Mutation_p.G20C	p.G20C	NM_006121	NP_006112	P04264	K2C1_HUMAN			1	117	-			20			Head.|Gly/Phe/Ser-rich.		B2RA01|P85925|P86104|Q14720|Q6GSJ0|Q9H298	Missense_Mutation	SNP	ENST00000252244.3	37	c.58G>T	CCDS8836.1	.	.	.	.	.	.	.	.	.	.	C	0.016	-1.534227	0.00942	.	.	ENSG00000167768	ENST00000252244	T	0.81415	-1.49	4.21	3.31	0.37934	.	.	.	.	.	T	0.65554	0.2702	L	0.39020	1.185	0.26809	N	0.969035	B	0.15141	0.012	B	0.16722	0.016	T	0.51442	-0.8705	9	0.02654	T	1	.	6.2449	0.20811	0.3163:0.5858:0.0:0.0979	.	20	P04264	K2C1_HUMAN	C	20	ENSP00000252244:G20C	ENSP00000252244:G20C	G	-	1	0	KRT1	51360342	0.000000	0.05858	0.950000	0.38849	0.476000	0.33039	0.244000	0.18124	0.915000	0.36847	0.491000	0.48974	GGC		PASS	0.557	KRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405706.1	NM_006121		17	87	17	87	---	---	---	---
ARHGAP9	64333	broad.mit.edu	37	12	57872974	57872974	+	Silent	SNP	G	G	A			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr12:57872974G>A	ENST00000356411.2	-	2	354	c.216C>T	c.(214-216)acC>acT	p.T72T	ARHGAP9_ENST00000393791.3_Silent_p.T72T|ARHGAP9_ENST00000424809.2_Silent_p.T72T|ARHGAP9_ENST00000393797.2_Silent_p.T143T|ARHGAP9_ENST00000550288.1_Silent_p.T151T|ARHGAP9_ENST00000550454.1_5'Flank|ARHGAP9_ENST00000430041.2_5'Flank			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	72	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)	p.T72T(1)		endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			TGGGTCGAGAGGTGGAGGGAG	0.562																																						uc001sod.2																			1	Substitution - coding silent(1)		lung(1)	lung(1)	1						c.(427-429)ACC>ACT		Rho GTPase activating protein 9 isoform 1							155.0	130.0	139.0					12																	57872974		2203	4300	6503	SO:0001819	synonymous_variant	64333				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr12:57872974G>A	AB051853	CCDS8941.2, CCDS44928.1, CCDS44929.1	12q13.3	2013-01-10			ENSG00000123329	ENSG00000123329		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	14130	protein-coding gene	gene with protein product		610576				11396949	Standard	NM_032496		Approved	MGC1295, 10C	uc001soc.3	Q9BRR9	OTTHUMG00000150147	ENST00000356411.2:c.216C>T	12.37:g.57872974G>A						ARHGAP9_uc001snz.2_5'Flank|ARHGAP9_uc001soa.2_5'Flank|ARHGAP9_uc001sob.2_Silent_p.T72T|ARHGAP9_uc001soc.2_Silent_p.T72T|ARHGAP9_uc001soe.1_Silent_p.T151T|ARHGAP9_uc010sro.1_Silent_p.T72T	p.T143T	NM_032496	NP_115885	Q9BRR9	RHG09_HUMAN	GBM - Glioblastoma multiforme(3;3.37e-34)		5	622	-			72			SH3.		B4DVI3|E9PDX9|Q8NAF3|Q8TCJ3|Q8WYR0|Q96EZ2|Q96S74	Silent	SNP	ENST00000356411.2	37	c.429C>T																																																																																					PASS	0.562	ARHGAP9-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_032496		4	109	4	109	---	---	---	---
SLC26A10	65012	broad.mit.edu	37	12	58014145	58014145	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr12:58014145G>A	ENST00000320442.4	+	1	453	c.142G>A	c.(142-144)Gcc>Acc	p.A48T	SLC26A10_ENST00000379218.2_Missense_Mutation_p.A48T|AC025165.8_ENST00000593846.1_RNA|AC025165.8_ENST00000444467.1_RNA|AC025165.8_ENST00000356672.3_RNA	NM_133489.2	NP_597996.2	Q8NG04	S2610_HUMAN	solute carrier family 26, member 10	48						integral component of membrane (GO:0016021)	antiporter activity (GO:0015297)|sulfate transmembrane transporter activity (GO:0015116)	p.A48T(2)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					TGCTCTCCTGGCCTCCGTGCC	0.562																																						uc001spe.2																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)|central_nervous_system(1)	2						c.(142-144)GCC>ACC		solute carrier family 26, member 10							531.0	497.0	509.0					12																	58014145		2203	4300	6503	SO:0001583	missense	65012					integral to membrane	antiporter activity	g.chr12:58014145G>A		CCDS8949.2	12q13	2013-07-18			ENSG00000135502	ENSG00000135502		"""Solute carriers"""	14470	protein-coding gene	gene with protein product							Standard	NM_133489		Approved		uc001spe.3	Q8NG04	OTTHUMG00000128505	ENST00000320442.4:c.142G>A	12.37:g.58014145G>A	ENSP00000320217:p.Ala48Thr					uc001spc.2_5'Flank|SLC26A10_uc001spf.2_RNA	p.A48T	NM_133489	NP_597996	Q8NG04	S2610_HUMAN			1	453	+	Melanoma(17;0.122)		48			Helical; (Potential).		A6NMJ2|B6ZDQ3|Q6ZWI7	Missense_Mutation	SNP	ENST00000320442.4	37	c.142G>A	CCDS8949.2	.	.	.	.	.	.	.	.	.	.	g	10.30	1.312291	0.23908	.	.	ENSG00000135502	ENST00000320442;ENST00000379218	D;D	0.94280	-3.39;-3.39	4.81	-0.461	0.12172	.	.	.	.	.	D	0.89357	0.6692	M	0.64170	1.965	0.27130	N	0.961927	B	0.06786	0.001	B	0.06405	0.002	T	0.79191	-0.1905	9	0.49607	T	0.09	.	4.1806	0.10374	0.6065:0.0:0.242:0.1515	.	48	Q8NG04	S2610_HUMAN	T	48	ENSP00000320217:A48T;ENSP00000368520:A48T	ENSP00000320217:A48T	A	+	1	0	SLC26A10	56300412	1.000000	0.71417	0.994000	0.49952	0.185000	0.23345	3.547000	0.53663	-0.124000	0.11724	-0.982000	0.02568	GCC		PASS	0.562	SLC26A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250311.2			106	678	106	678	---	---	---	---
PPFIA2	8499	broad.mit.edu	37	12	81839428	81839428	+	Silent	SNP	C	C	A	rs377309697		TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr12:81839428C>A	ENST00000549396.1	-	6	637	c.477G>T	c.(475-477)cgG>cgT	p.R159R	PPFIA2_ENST00000333447.7_Silent_p.R141R|PPFIA2_ENST00000443686.3_Silent_p.R85R|PPFIA2_ENST00000549325.1_Silent_p.R141R|PPFIA2_ENST00000545296.2_5'UTR|PPFIA2_ENST00000550359.2_Silent_p.R6R|PPFIA2_ENST00000407050.4_Silent_p.R85R|PPFIA2_ENST00000550584.2_Silent_p.R159R|PPFIA2_ENST00000552948.1_Silent_p.R159R|RP11-315E17.1_ENST00000550272.1_RNA|PPFIA2_ENST00000548586.1_Silent_p.R159R	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	159	Glu-rich.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)		p.R159R(2)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						ACTGGGCTTGCCGTTTTACCA	0.428																																						uc001szo.1																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|lung(2)|pancreas(1)	6						c.(475-477)CGG>CGT		PTPRF interacting protein alpha 2		C	,,,,,,	2,3828		0,2,1913	117.0	111.0	113.0		477,423,477,477,255,255,477	-0.4	1.0	12		113	0,8252		0,0,4126	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PPFIA2	NM_001220473.1,NM_001220474.1,NM_001220475.1,NM_001220476.1,NM_001220477.1,NM_001220478.1,NM_003625.3	,,,,,,	0,2,6039	AA,AC,CC		0.0,0.0522,0.0166	,,,,,,	159/1248,141/1233,159/1237,159/1252,85/1157,85/1153,159/1258	81839428	2,12080	1915	4126	6041	SO:0001819	synonymous_variant	8499							g.chr12:81839428C>A	AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.477G>T	12.37:g.81839428C>A						PPFIA2_uc010sue.1_Silent_p.R59R|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA	p.R159R	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN			6	638	-			85					B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Silent	SNP	ENST00000549396.1	37	c.477G>T	CCDS55857.1																																																																																				PASS	0.428	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1			8	67	8	67	---	---	---	---
TMTC2	160335	broad.mit.edu	37	12	83290168	83290168	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr12:83290168C>G	ENST00000321196.3	+	3	1933	c.1226C>G	c.(1225-1227)aCg>aGg	p.T409R	TMTC2_ENST00000548305.1_Missense_Mutation_p.T409R|TMTC2_ENST00000549919.1_Missense_Mutation_p.T403R	NM_152588.1	NP_689801.1	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	409					calcium ion homeostasis (GO:0055074)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)		p.T409R(2)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						GTTCCTGCCACGAACCTGTTT	0.418																																						uc001szt.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1225-1227)ACG>AGG		transmembrane and tetratricopeptide repeat							179.0	181.0	180.0					12																	83290168		2203	4300	6503	SO:0001583	missense	160335					endoplasmic reticulum|integral to membrane	binding	g.chr12:83290168C>G	AK074634	CCDS9025.1	12q21.31	2014-06-09			ENSG00000179104	ENSG00000179104		"""Tetratricopeptide (TTC) repeat domain containing"""	25440	protein-coding gene	gene with protein product		615856				24764305	Standard	NM_152588		Approved	DKFZp762A217	uc001szt.3	Q8N394	OTTHUMG00000169736	ENST00000321196.3:c.1226C>G	12.37:g.83290168C>G	ENSP00000322300:p.Thr409Arg					TMTC2_uc001szr.1_Missense_Mutation_p.T409R|TMTC2_uc001szs.1_Missense_Mutation_p.T409R|TMTC2_uc010suk.1_Missense_Mutation_p.T164R	p.T409R	NM_152588	NP_689801	Q8N394	TMTC2_HUMAN			3	1658	+			409			Helical; (Potential).		B2RCU7|Q8N2K8	Missense_Mutation	SNP	ENST00000321196.3	37	c.1226C>G	CCDS9025.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.961960	0.74016	.	.	ENSG00000179104	ENST00000321196;ENST00000548305;ENST00000549919;ENST00000546590	T;T;T	0.42900	0.96;0.96;0.96	5.86	5.86	0.93980	.	0.045313	0.85682	D	0.000000	T	0.56601	0.1996	M	0.64997	1.995	0.80722	D	1	D;P;D	0.58970	0.971;0.933;0.984	P;P;P	0.55999	0.691;0.71;0.789	T	0.57533	-0.7795	10	0.66056	D	0.02	-14.0083	15.6552	0.77129	0.0:0.8636:0.1364:0.0	.	409;164;409	Q8N394;F8VRQ2;F8VSH2	TMTC2_HUMAN;.;.	R	409;409;403;164	ENSP00000322300:T409R;ENSP00000448292:T409R;ENSP00000447609:T403R	ENSP00000322300:T409R	T	+	2	0	TMTC2	81814299	1.000000	0.71417	0.998000	0.56505	0.976000	0.68499	5.696000	0.68287	2.776000	0.95493	0.650000	0.86243	ACG		PASS	0.418	TMTC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405663.1	NM_152588		4	183	4	183	---	---	---	---
SLC5A8	160728	broad.mit.edu	37	12	101555837	101555837	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr12:101555837G>T	ENST00000536262.2	-	13	2103	c.1545C>A	c.(1543-1545)aaC>aaA	p.N515K		NM_145913.3	NP_666018.3			solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8									p.N515K(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AAGAATACCAGTTATCCATCA	0.378																																					GBM(60;420 1056 13605 22380 47675)	uc001thz.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1543-1545)AAC>AAA		solute carrier family 5 (iodide transporter),							167.0	167.0	167.0					12																	101555837		2203	4299	6502	SO:0001583	missense	160728				apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity	g.chr12:101555837G>T	AY081220	CCDS9080.1	12q23.1	2013-07-19	2013-07-19		ENSG00000256870	ENSG00000256870		"""Solute carriers"""	19119	protein-coding gene	gene with protein product		608044	"""solute carrier family 5 (iodide transporter), member 8"""			12107270, 12829793	Standard	NM_145913		Approved	AIT	uc001thz.4	Q8N695	OTTHUMG00000170499	ENST00000536262.2:c.1545C>A	12.37:g.101555837G>T	ENSP00000445340:p.Asn515Lys						p.N515K	NM_145913	NP_666018	Q8N695	SC5A8_HUMAN			13	1935	-			515			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000536262.2	37	c.1545C>A	CCDS9080.1	.	.	.	.	.	.	.	.	.	.	G	13.64	2.296907	0.40594	.	.	ENSG00000256870	ENST00000536262	T	0.63744	-0.06	5.5	0.428	0.16499	.	0.295207	0.36778	N	0.002416	T	0.51346	0.1669	M	0.76574	2.34	0.38051	D	0.935767	P	0.41420	0.749	B	0.35607	0.206	T	0.54296	-0.8315	10	0.10636	T	0.68	.	9.2452	0.37520	0.4626:0.0:0.5374:0.0	.	515	Q8N695	SC5A8_HUMAN	K	515	ENSP00000445340:N515K	ENSP00000445340:N515K	N	-	3	2	SLC5A8	100079968	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	0.602000	0.24134	0.032000	0.15435	0.585000	0.79938	AAC		PASS	0.378	SLC5A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409401.1	NM_145913		19	199	19	199	---	---	---	---
PAH	5053	broad.mit.edu	37	12	103237440	103237440	+	Missense_Mutation	SNP	C	C	A	rs62516103		TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr12:103237440C>A	ENST00000553106.1	-	11	1655	c.1183G>T	c.(1183-1185)Gcc>Tcc	p.A395S	PAH_ENST00000307000.2_Missense_Mutation_p.A390S	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	395			A -> G (in PKU).|A -> P (in PKU; haplotype 1).		catecholamine biosynthetic process (GO:0042423)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|phenylalanine 4-monooxygenase activity (GO:0004505)	p.A395S(1)		endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Droxidopa(DB06262)|Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	TTCTCCTTGGCATCATTAAAA	0.542																																						uc001tjq.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4	GRCh37	CM930566	PAH	M	rs62516103	c.(1183-1185)GCC>TCC		phenylalanine hydroxylase	Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)						121.0	113.0	116.0					12																	103237440		2203	4300	6503	SO:0001583	missense	5053				catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity	g.chr12:103237440C>A	U49897	CCDS9092.1	12q22-q24.2	2010-04-27				ENSG00000171759	1.14.16.1		8582	protein-coding gene	gene with protein product	"""phenylalanine 4-monooxygenase"""	612349				2063869	Standard	NM_000277		Approved	PH	uc001tjq.1	P00439		ENST00000553106.1:c.1183G>T	12.37:g.103237440C>A	ENSP00000448059:p.Ala395Ser						p.A395S	NM_000277	NP_000268	P00439	PH4H_HUMAN			12	1655	-			395		A -> P (in PKU; haplotype 1).|A -> G (in PKU).			Q16717|Q8TC14	Missense_Mutation	SNP	ENST00000553106.1	37	c.1183G>T	CCDS9092.1	.	.	.	.	.	.	.	.	.	.	C	31	5.091617	0.94149	.	.	ENSG00000171759	ENST00000553106;ENST00000307000	D;D	0.99607	-6.27;-6.27	5.34	5.34	0.76211	Aromatic amino acid hydroxylase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.99729	0.9894	M	0.92367	3.3	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.97523	1.0074	10	0.66056	D	0.02	-19.503	19.0479	0.93028	0.0:1.0:0.0:0.0	.	395	P00439	PH4H_HUMAN	S	395;390	ENSP00000448059:A395S;ENSP00000303500:A390S	ENSP00000303500:A390S	A	-	1	0	PAH	101761570	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	5.807000	0.69157	2.494000	0.84150	0.591000	0.81541	GCC		PASS	0.542	PAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406692.1			3	40	3	40	---	---	---	---
STAB2	55576	broad.mit.edu	37	12	104031865	104031865	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr12:104031865A>T	ENST00000388887.2	+	8	985	c.781A>T	c.(781-783)Agt>Tgt	p.S261C		NM_017564.9	NP_060034.9			stabilin 2									p.S261C(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AAATCGGCACAGTTGTACATG	0.493																																						uc001tjw.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|skin(5)	14						c.(781-783)AGT>TGT		stabilin 2 precursor							210.0	177.0	188.0					12																	104031865		2203	4300	6503	SO:0001583	missense	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104031865A>T	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.781A>T	12.37:g.104031865A>T	ENSP00000373539:p.Ser261Cys						p.S261C	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN			8	967	+			261			Extracellular (Potential).|EGF-like 4.			Missense_Mutation	SNP	ENST00000388887.2	37	c.781A>T	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	A	17.99	3.523028	0.64747	.	.	ENSG00000136011	ENST00000388887	T	0.08282	3.11	5.38	2.78	0.32641	EGF domain, merozoite surface protein 1-like (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.714178	0.13990	N	0.348854	T	0.28134	0.0694	M	0.86028	2.79	0.26377	N	0.976799	D	0.63046	0.992	P	0.59948	0.866	T	0.07927	-1.0747	10	0.56958	D	0.05	.	13.0165	0.58759	0.7339:0.2661:0.0:0.0	.	261	Q8WWQ8	STAB2_HUMAN	C	261	ENSP00000373539:S261C	ENSP00000373539:S261C	S	+	1	0	STAB2	102555995	0.391000	0.25221	0.824000	0.32777	0.988000	0.76386	0.955000	0.29188	0.841000	0.35020	0.533000	0.62120	AGT		PASS	0.493	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			13	154	13	154	---	---	---	---
UBC	7316	broad.mit.edu	37	12	125397618	125397618	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr12:125397618T>C	ENST00000536769.1	-	1	2276	c.700A>G	c.(700-702)Aag>Gag	p.K234E	UBC_ENST00000546120.1_Missense_Mutation_p.K158E|MIR5188_ENST00000583467.1_RNA|UBC_ENST00000536661.1_5'Flank|UBC_ENST00000538617.1_Intron|UBC_ENST00000339647.5_Missense_Mutation_p.K234E			P0CG48	UBC_HUMAN	ubiquitin C	234	Ubiquitin-like 4. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)	p.K234E(1)		breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		GTGAGTGTCTTCACGAAGATT	0.512																																						uc001ugs.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(700-702)AAG>GAG		ubiquitin C							200.0	180.0	187.0					12																	125397618		2203	4299	6502	SO:0001583	missense	7316				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr12:125397618T>C		CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"""polyubiquitin-C"""	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000536769.1:c.700A>G	12.37:g.125397618T>C	ENSP00000441543:p.Lys234Glu					UBC_uc001ugr.2_5'Flank|UBC_uc001ugu.1_Missense_Mutation_p.K234E|UBC_uc001ugt.2_Missense_Mutation_p.K234E|UBC_uc001ugv.2_Intron|UBC_uc001ugw.2_Missense_Mutation_p.K82E	p.K234E	NM_021009	NP_066289	P0CG48	UBC_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)	2	1148	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		234			Ubiquitin-like 4.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Missense_Mutation	SNP	ENST00000536769.1	37	c.700A>G	CCDS9260.1	.	.	.	.	.	.	.	.	.	.	-	16.74	3.206158	0.58234	.	.	ENSG00000150991	ENST00000536769;ENST00000535460;ENST00000541046;ENST00000339647;ENST00000546120;ENST00000541272	T;T;T;T	0.80393	-1.37;-1.37;-1.37;-1.35	2.93	2.93	0.34026	Ubiquitin supergroup (1);Ubiquitin (2);	0.000000	0.50627	U	0.000114	D	0.88526	0.6460	M	0.85197	2.74	0.58432	D	0.999999	P;D;D	0.69078	0.732;0.997;0.994	P;D;D	0.72625	0.667;0.945;0.978	D	0.88963	0.3395	10	0.87932	D	0	.	9.4121	0.38498	0.0:0.0:0.0:1.0	.	323;234;234	Q66K58;F5H7K6;P0CG48	.;.;UBC_HUMAN	E	234;234;158;234;158;158	ENSP00000441543:K234E;ENSP00000344818:K234E;ENSP00000438394:K158E;ENSP00000440205:K158E	ENSP00000344818:K234E	K	-	1	0	UBC	123963571	1.000000	0.71417	1.000000	0.80357	0.807000	0.45602	6.115000	0.71566	1.379000	0.46325	0.444000	0.29173	AAG		PASS	0.512	UBC-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400177.1	NM_021009		5	232	5	232	---	---	---	---
DHX37	57647	broad.mit.edu	37	12	125473469	125473469	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr12:125473469G>T	ENST00000308736.2	-	1	198	c.100C>A	c.(100-102)Ctg>Atg	p.L34M		NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	34							ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.L34M(1)		breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		TTACCCTCCAGTTCCAGCTGC	0.706																																						uc001ugy.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(100-102)CTG>ATG		DEAH (Asp-Glu-Ala-His) box polypeptide 37							10.0	14.0	13.0					12																	125473469		1872	3936	5808	SO:0001583	missense	57647						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr12:125473469G>T	AB040950	CCDS9261.1	12q24.31	2004-03-25	2003-06-13	2003-06-20		ENSG00000150990		"""DEAH-boxes"""	17210	protein-coding gene	gene with protein product			"""DEAD/DEAH box helicase DDX37"""	DDX37		10819331	Standard	NM_032656		Approved	KIAA1517, MGC4322, MGC2695	uc001ugy.3	Q8IY37		ENST00000308736.2:c.100C>A	12.37:g.125473469G>T	ENSP00000311135:p.Leu34Met						p.L34M	NM_032656	NP_116045	Q8IY37	DHX37_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)	1	199	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		34					Q9BUI7|Q9P211	Missense_Mutation	SNP	ENST00000308736.2	37	c.100C>A	CCDS9261.1	.	.	.	.	.	.	.	.	.	.	g	11.60	1.688465	0.29962	.	.	ENSG00000150990	ENST00000308736	T	0.03212	4.01	4.53	1.65	0.23941	.	0.349408	0.25180	N	0.032525	T	0.04952	0.0133	M	0.68952	2.095	0.09310	N	1	B	0.29766	0.256	B	0.31614	0.133	T	0.32161	-0.9917	10	0.34782	T	0.22	-4.6203	6.1003	0.20043	0.0898:0.0:0.5778:0.3324	.	34	Q8IY37	DHX37_HUMAN	M	34	ENSP00000311135:L34M	ENSP00000311135:L34M	L	-	1	2	DHX37	124039422	0.994000	0.37717	0.004000	0.12327	0.137000	0.21094	2.222000	0.42926	0.157000	0.19338	0.447000	0.29281	CTG		PASS	0.706	DHX37-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032656		4	27	4	27	---	---	---	---
TMEM132B	114795	broad.mit.edu	37	12	126135332	126135332	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr12:126135332G>A	ENST00000299308.3	+	7	1740	c.1732G>A	c.(1732-1734)Gcc>Acc	p.A578T	TMEM132B_ENST00000535886.1_Missense_Mutation_p.A90T	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	578						integral component of membrane (GO:0016021)		p.A578T(1)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CCAGTTTGTGGCCGAGTCACC	0.592																																						uc001uhe.1																			1	Substitution - Missense(1)		lung(1)	skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1)	19						c.(1732-1734)GCC>ACC		transmembrane protein 132B							72.0	80.0	77.0					12																	126135332		2177	4279	6456	SO:0001583	missense	114795					integral to membrane		g.chr12:126135332G>A	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.1732G>A	12.37:g.126135332G>A	ENSP00000299308:p.Ala578Thr					TMEM132B_uc001uhf.1_Missense_Mutation_p.A90T	p.A578T	NM_052907	NP_443139	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	7	1740	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		578			Extracellular (Potential).		A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	ENST00000299308.3	37	c.1732G>A	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	G	10.39	1.337792	0.24253	.	.	ENSG00000139364	ENST00000299308;ENST00000535886	T;T	0.08458	3.09;3.09	5.14	0.974	0.19715	.	0.294090	0.29293	N	0.012578	T	0.06735	0.0172	L	0.42008	1.315	0.58432	D	0.999999	B	0.22414	0.069	B	0.23018	0.043	T	0.34129	-0.9841	10	0.33141	T	0.24	.	5.7456	0.18118	0.2238:0.0:0.6418:0.1344	.	578	Q14DG7	T132B_HUMAN	T	578;90	ENSP00000299308:A578T;ENSP00000440436:A90T	ENSP00000299308:A578T	A	+	1	0	TMEM132B	124701285	1.000000	0.71417	0.624000	0.29186	0.512000	0.34134	3.756000	0.55205	-0.115000	0.11915	-0.142000	0.14014	GCC		PASS	0.592	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		7	64	7	64	---	---	---	---
POU4F1	5457	broad.mit.edu	37	13	79175769	79175769	+	Silent	SNP	A	A	G			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr13:79175769A>G	ENST00000377208.5	-	2	1252	c.1041T>C	c.(1039-1041)ccT>ccC	p.P347P	RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000606376.1_RNA|RNF219-AS1_ENST00000607220.1_RNA|RNF219-AS1_ENST00000607860.1_RNA|RNF219-AS1_ENST00000606124.1_RNA|RP11-52L5.6_ENST00000607269.1_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000430549.2_RNA|RNF219-AS1_ENST00000444769.3_RNA|RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000607205.1_RNA	NM_006237.3	NP_006228.3	Q01851	PO4F1_HUMAN	POU class 4 homeobox 1	347					axonogenesis (GO:0007409)|cell migration in hindbrain (GO:0021535)|central nervous system neuron differentiation (GO:0021953)|habenula development (GO:0021986)|innervation (GO:0060384)|mesoderm development (GO:0007498)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|peripheral nervous system neuron development (GO:0048935)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proprioception involved in equilibrioception (GO:0051355)|regulation of neurogenesis (GO:0050767)|sensory system development (GO:0048880)|suckling behavior (GO:0001967)|synapse assembly (GO:0007416)|transcription from RNA polymerase II promoter (GO:0006366)|trigeminal nerve development (GO:0021559)|ventricular compact myocardium morphogenesis (GO:0003223)	neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)	p.P347P(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)	16		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.129)		TGAAGAGCTCAGGCTTGTTCA	0.662																																					Melanoma(109;347 2166 14574 42843)|Ovarian(81;1394 1854 22417 48351)	uc001vkv.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1039-1041)CCT>CCC		POU domain, class 4, transcription factor 1							29.0	32.0	31.0					13																	79175769		2203	4300	6503	SO:0001819	synonymous_variant	5457				axonogenesis|regulation of transcription from RNA polymerase II promoter|synapse assembly	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr13:79175769A>G	X64624	CCDS31996.1	13q31.1	2011-06-20	2007-07-13		ENSG00000152192	ENSG00000152192		"""Homeoboxes / POU class"""	9218	protein-coding gene	gene with protein product		601632	"""POU domain class 4, transcription factor 1"""	BRN3A		1357630	Standard	NM_006237		Approved	RDC-1	uc001vkv.3	Q01851	OTTHUMG00000017119	ENST00000377208.5:c.1041T>C	13.37:g.79175769A>G						uc001vku.1_Intron	p.P347P	NM_006237	NP_006228	Q01851	PO4F1_HUMAN		GBM - Glioblastoma multiforme(99;0.129)	2	1275	-		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)	347					Q14986|Q15318|Q5T227	Silent	SNP	ENST00000377208.5	37	c.1041T>C	CCDS31996.1																																																																																				PASS	0.662	POU4F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045360.3			3	37	3	37	---	---	---	---
NALCN	259232	broad.mit.edu	37	13	101890232	101890232	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr13:101890232C>A	ENST00000251127.6	-	12	1389	c.1308G>T	c.(1306-1308)aaG>aaT	p.K436N	NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Missense_Mutation_p.K436N	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	436					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)	p.K436N(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AACACCATATCTTCAGAAGTG	0.318																																						uc001vox.1																			1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16						c.(1306-1308)AAG>AAT		voltage gated channel like 1							122.0	130.0	127.0					13																	101890232		2203	4300	6503	SO:0001583	missense	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101890232C>A	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.1308G>T	13.37:g.101890232C>A	ENSP00000251127:p.Lys436Asn					NALCN_uc001voy.2_Missense_Mutation_p.K151N|NALCN_uc001voz.2_Missense_Mutation_p.K436N|NALCN_uc001vpa.2_Missense_Mutation_p.K436N	p.K436N	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN			12	1497	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		436			Helical; Name=S2 of repeat II; (Potential).		Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	c.1308G>T	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.990177	0.74589	.	.	ENSG00000102452	ENST00000251127;ENST00000376196	D;D	0.99129	-5.46;-5.46	5.24	4.37	0.52481	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99471	0.9812	H	0.95712	3.71	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.985;0.997	D	0.98076	1.0401	10	0.87932	D	0	.	14.7119	0.69238	0.0:0.9261:0.0:0.0739	.	436;436;436	F2Z323;B3KSZ6;Q8IZF0	.;.;NALCN_HUMAN	N	436	ENSP00000251127:K436N;ENSP00000365367:K436N	ENSP00000251127:K436N	K	-	3	2	NALCN	100688233	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.819000	0.39022	2.593000	0.87608	0.491000	0.48974	AAG		PASS	0.318	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		12	164	12	164	---	---	---	---
KIAA0586	9786	broad.mit.edu	37	14	58896152	58896152	+	Splice_Site	SNP	G	G	T			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr14:58896152G>T	ENST00000556134.1	+	3	499		c.e3+1		TIMM9_ENST00000216463.4_5'Flank|RP11-517O13.1_ENST00000556734.1_RNA|TIMM9_ENST00000395159.2_5'Flank|KIAA0586_ENST00000261244.5_Splice_Site|KIAA0586_ENST00000423743.3_Splice_Site|KIAA0586_ENST00000354386.6_Splice_Site|TIMM9_ENST00000556007.2_5'Flank|TIMM9_ENST00000555593.1_5'Flank|TIMM9_ENST00000555404.1_5'Flank	NM_001244190.1|NM_001244193.1	NP_001231119.1|NP_001231122.1	Q9BVV6	TALD3_HUMAN	KIAA0586						cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|regulation of establishment of protein localization (GO:0070201)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)		p.?(2)		endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GTCAGAAAGTGTAAGCAAAAG	0.313																																						uc001xdv.3																			2	Unknown(2)		lung(2)	ovary(1)	1						c.e2+1		talpid3 protein							118.0	114.0	115.0					14																	58896152		1812	4069	5881	SO:0001630	splice_region_variant	9786							g.chr14:58896152G>T	AB011158	CCDS45115.1, CCDS58320.1, CCDS58321.1, CCDS58322.1, CCDS73639.1	14q23.1	2012-12-06			ENSG00000100578	ENSG00000100578			19960	protein-coding gene	gene with protein product		610178				16702409	Standard	NM_014749		Approved	Talpid3	uc010trr.2	Q9BVV6	OTTHUMG00000171141	ENST00000556134.1:c.225+1G>T	14.37:g.58896152G>T						KIAA0586_uc010trr.1_Splice_Site_p.S90_splice|KIAA0586_uc001xdt.3_Splice_Site_p.S5_splice|KIAA0586_uc001xdu.3_Splice_Site_p.S75_splice|KIAA0586_uc010trs.1_Splice_Site_p.S5_splice|TIMM9_uc010aph.2_5'Flank|TIMM9_uc001xds.2_5'Flank|TIMM9_uc010api.2_5'Flank	p.S90_splice	NM_014749	NP_055564	E9PGW8	E9PGW8_HUMAN			2	543	+								B4DZB6|E7EWM8|J3KQH9|O60328|Q6NYC6|Q6UV20	Splice_Site	SNP	ENST00000556134.1	37	c.270_splice	CCDS58321.1	.	.	.	.	.	.	.	.	.	.	G	19.06	3.753026	0.69648	.	.	ENSG00000100578	ENST00000354386;ENST00000556134;ENST00000423743;ENST00000554463;ENST00000555833;ENST00000261244	.	.	.	5.16	5.16	0.70880	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3489	0.66685	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KIAA0586	57965905	1.000000	0.71417	0.994000	0.49952	0.982000	0.71751	4.081000	0.57627	2.840000	0.97914	0.655000	0.94253	.		PASS	0.313	KIAA0586-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000411887.1	NM_014749	Intron	4	131	4	131	---	---	---	---
TLN2	83660	broad.mit.edu	37	15	62948154	62948154	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr15:62948154G>T	ENST00000561311.1	+	7	759	c.529G>T	c.(529-531)Gat>Tat	p.D177Y	TLN2_ENST00000306829.6_Missense_Mutation_p.D177Y			Q9Y4G6	TLN2_HUMAN	talin 2	177	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.D177Y(1)		NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						AAATTGGCTGGATCACAGCCG	0.378																																						uc002alb.3																			1	Substitution - Missense(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11						c.(529-531)GAT>TAT		talin 2							84.0	72.0	76.0					15																	62948154		2203	4300	6503	SO:0001583	missense	83660				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	g.chr15:62948154G>T	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.529G>T	15.37:g.62948154G>T	ENSP00000453508:p.Asp177Tyr						p.D177Y	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN			5	529	+			177			FERM.		A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	37	c.529G>T	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.821976	0.90873	.	.	ENSG00000171914	ENST00000306829	T	0.80738	-1.41	5.65	5.65	0.86999	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);	0.000000	0.85682	D	0.000000	D	0.90734	0.7092	M	0.82716	2.605	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.91336	0.5093	10	0.87932	D	0	-19.5495	19.0843	0.93196	0.0:0.0:1.0:0.0	.	177	Q9Y4G6	TLN2_HUMAN	Y	177	ENSP00000303476:D177Y	ENSP00000303476:D177Y	D	+	1	0	TLN2	60735446	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.803000	0.99136	2.824000	0.97209	0.655000	0.94253	GAT		PASS	0.378	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			12	46	12	46	---	---	---	---
HERC1	8925	broad.mit.edu	37	15	64021766	64021766	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr15:64021766T>C	ENST00000443617.2	-	15	3038	c.2951A>G	c.(2950-2952)cAt>cGt	p.H984R		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	984					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.H984R(2)		NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TTCATGAAGATGAGCAGGCTG	0.368																																						uc002amp.2																			2	Substitution - Missense(2)		lung(2)	ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						c.(2950-2952)CAT>CGT		hect domain and RCC1-like domain 1							126.0	118.0	121.0					15																	64021766		1898	4140	6038	SO:0001583	missense	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:64021766T>C	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.2951A>G	15.37:g.64021766T>C	ENSP00000390158:p.His984Arg					HERC1_uc010uil.1_Intron	p.H984R	NM_003922	NP_003913	Q15751	HERC1_HUMAN			15	3099	-			984					Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	c.2951A>G	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	T	17.92	3.507939	0.64410	.	.	ENSG00000103657	ENST00000443617	T	0.54071	0.59	5.33	5.33	0.75918	.	0.000000	0.85682	U	0.000000	T	0.62134	0.2403	L	0.32530	0.975	0.80722	D	1	D	0.57899	0.981	D	0.69824	0.966	T	0.63559	-0.6610	10	0.49607	T	0.09	.	15.3075	0.74004	0.0:0.0:0.0:1.0	.	984	Q15751	HERC1_HUMAN	R	984	ENSP00000390158:H984R	ENSP00000390158:H984R	H	-	2	0	HERC1	61808819	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.008000	0.58898	0.460000	0.39030	CAT		PASS	0.368	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		13	146	13	146	---	---	---	---
CILP	8483	broad.mit.edu	37	15	65489813	65489814	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr15:65489813_65489814CC>AA	ENST00000261883.4	-	9	2976_2977	c.2810_2811GG>TT	c.(2809-2811)tGG>tTT	p.W937F		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	937					negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)		p.W937C(1)|p.W937F(1)|p.W937L(1)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						AGTCTTCAGTCCAGCTCATAGG	0.535																																						uc002aon.2																			3	Substitution - Missense(3)		lung(3)	ovary(4)|pancreas(2)|skin(1)	7						c.(2809-2811)TGG>TGT|c.(2809-2811)TGG>TTG		cartilage intermediate layer protein																																				SO:0001583	missense	8483				negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix		g.chr15:65489813C>A|g.chr15:65489814C>A	AY358904	CCDS10203.1	15q22	2013-01-14			ENSG00000138615	ENSG00000138615		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1980	protein-coding gene	gene with protein product		603489				9722584, 9722583	Standard	NM_003613		Approved	HsT18872	uc002aon.2	O75339	OTTHUMG00000133140	ENST00000261883.4:c.2810_2811delinsAA	15.37:g.65489813_65489814delinsAA	ENSP00000261883:p.Trp937Phe						p.W937C|p.W937L	NM_003613	NP_003604	O75339	CILP1_HUMAN			9	2992|2991	-			937					B2R8F7|Q6UW99|Q8IYI5	Missense_Mutation	SNP	ENST00000261883.4	37	c.2811G>T|c.2810G>T	CCDS10203.1																																																																																				PASS	0.535	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256829.1	NM_003613		8|10	122|124	8	122	---	---	---	---
CD276	80381	broad.mit.edu	37	15	73996674	73996674	+	Silent	SNP	G	G	T	rs143706609	byFrequency	TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr15:73996674G>T	ENST00000318443.5	+	6	1532	c.1230G>T	c.(1228-1230)acG>acT	p.T410T	CD276_ENST00000318424.5_Silent_p.T192T|CD276_ENST00000564751.1_Silent_p.T192T|CD276_ENST00000561213.1_Silent_p.T410T|CD276_ENST00000537340.2_Silent_p.T264T	NM_001024736.1	NP_001019907.1	Q5ZPR3	CD276_HUMAN	CD276 molecule	410	Ig-like C2-type 2.				cell proliferation (GO:0008283)|immune response (GO:0006955)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of bone mineralization (GO:0030501)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)	p.T410T(1)		endometrium(3)|lung(5)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	13						ACGTGACCACGTCGCAGATGG	0.642											OREG0023265	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002avv.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1228-1230)ACG>ACT		CD276 antigen isoform a							98.0	79.0	85.0					15																	73996674		2198	4295	6493	SO:0001819	synonymous_variant	80381				cell proliferation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of T cell proliferation|regulation of immune response|T cell activation	external side of plasma membrane|integral to membrane	receptor binding	g.chr15:73996674G>T	AF302102	CCDS10251.1, CCDS32288.1	15q23-q24	2013-01-11	2006-03-28		ENSG00000103855	ENSG00000103855		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	19137	protein-coding gene	gene with protein product		605715	"""CD276 antigen"""			11224528, 12055244	Standard	XM_005254699		Approved	B7-H3, B7H3, B7RP-2	uc002avv.1	Q5ZPR3	OTTHUMG00000137585	ENST00000318443.5:c.1230G>T	15.37:g.73996674G>T			OREG0023265	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1149	CD276_uc010bjd.1_Silent_p.T264T|CD276_uc002avu.1_Silent_p.T410T|CD276_uc002avw.1_Silent_p.T192T|CD276_uc010ulb.1_Silent_p.T356T|CD276_uc002avx.2_RNA	p.T410T	NM_001024736	NP_001019907	Q5ZPR3	CD276_HUMAN			6	1464	+			410			Extracellular (Potential).|Ig-like C2-type 2.		Q6P5Y4|Q6UXI2|Q8NBI8|Q8NC34|Q8NCB6|Q9BXR1	Silent	SNP	ENST00000318443.5	37	c.1230G>T	CCDS32288.1																																																																																				PASS	0.642	CD276-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268979.1	NM_025240		4	55	4	55	---	---	---	---
CCDC33	80125	broad.mit.edu	37	15	74565187	74565187	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr15:74565187G>T	ENST00000398814.3	+	7	1145	c.714G>T	c.(712-714)atG>atT	p.M238I	CCDC33_ENST00000321288.5_Missense_Mutation_p.M441I	NM_025055.3	NP_079331.3	Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	441	C2.							p.M238I(1)|p.M441I(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						TCCCGTCCATGATGAACTTTG	0.602																																						uc002axo.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(2)	5						c.(712-714)ATG>ATT		coiled-coil domain containing 33 isoform 1							110.0	114.0	112.0					15																	74565187		2080	4200	6280	SO:0001583	missense	80125						protein binding	g.chr15:74565187G>T	BC025689	CCDS42058.1, CCDS42059.1, CCDS73753.1	15q24.1	2009-08-06				ENSG00000140481			26552	protein-coding gene	gene with protein product	"""cancer/testis antigen 61"""					12477932	Standard	NM_025055		Approved	FLJ32855, CT61	uc002axo.4	Q8N5R6		ENST00000398814.3:c.714G>T	15.37:g.74565187G>T	ENSP00000381795:p.Met238Ile					CCDC33_uc002axp.2_Missense_Mutation_p.M60I	p.M238I	NM_025055	NP_079331	Q8N5R6	CCD33_HUMAN			7	1108	+			441					A8K3U4|A8MPQ6|A8MV61|A8MVU9|B3KQ49|Q8TAX6|Q9H5Q6	Missense_Mutation	SNP	ENST00000398814.3	37	c.714G>T	CCDS42058.1	.	.	.	.	.	.	.	.	.	.	g	4.526	0.097637	0.08681	.	.	ENSG00000140481	ENST00000321288;ENST00000398814	T;T	0.21734	1.99;2.33	4.37	1.35	0.21983	.	1.313780	0.05253	N	0.514258	T	0.10337	0.0253	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.01281	0.0;0.0	T	0.32268	-0.9913	10	0.25751	T	0.34	.	3.7344	0.08504	0.2173:0.0:0.5909:0.1918	.	441;238	C9JFX2;Q8N5R6-6	.;.	I	441;238	ENSP00000325012:M441I;ENSP00000381795:M238I	ENSP00000325012:M441I	M	+	3	0	CCDC33	72352240	0.071000	0.21146	0.022000	0.16811	0.069000	0.16628	0.352000	0.20113	0.069000	0.16605	0.550000	0.68814	ATG		PASS	0.602	CCDC33-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419491.2	NM_182791		27	87	27	87	---	---	---	---
ANPEP	290	broad.mit.edu	37	15	90347784	90347784	+	Missense_Mutation	SNP	G	G	A	rs8179199	byFrequency	TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr15:90347784G>A	ENST00000300060.6	-	5	1275	c.962C>T	c.(961-963)aCg>aTg	p.T321M	ANPEP_ENST00000558177.1_5'Flank	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	321	Interaction with HCoV-229E.|Metalloprotease.		T -> M (in dbSNP:rs8179199).		angiogenesis (GO:0001525)|angiotensin maturation (GO:0002003)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|viral process (GO:0016032)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|receptor activity (GO:0004872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)	p.T321M(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)|Icatibant(DB06196)	GATGGGGCCCGTCACGTTCAG	0.602													G|||	3	0.000599042	0.0	0.0	5008	,	,		16571	0.003		0.0	False		,,,				2504	0.0				NSCLC(30;827 977 2459 19669 26125)	uc002bop.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(961-963)ACG>ATG		membrane alanine aminopeptidase precursor	Ezetimibe(DB00973)						89.0	92.0	91.0					15																	90347784		2200	4299	6499	SO:0001583	missense	290				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding	g.chr15:90347784G>A	M22324	CCDS10356.1	15q25-q26	2008-07-31	2008-07-31		ENSG00000166825	ENSG00000166825	3.4.11.2	"""CD molecules"""	500	protein-coding gene	gene with protein product	"""aminopeptidase N"", ""aminopeptidase M"", ""microsomal aminopeptidase"""	151530		CD13, PEPN		2428842, 1977688	Standard	NM_001150		Approved	LAP1, gp150, p150	uc002bop.4	P15144	OTTHUMG00000149814	ENST00000300060.6:c.962C>T	15.37:g.90347784G>A	ENSP00000300060:p.Thr321Met						p.T321M	NM_001150	NP_001141	P15144	AMPN_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		5	1254	-	Lung NSC(78;0.0221)|all_lung(78;0.0448)		321			Extracellular.|Interaction with HCoV-229E.|Metalloprotease.		Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Missense_Mutation	SNP	ENST00000300060.6	37	c.962C>T	CCDS10356.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	17.66	3.443631	0.63067	.	.	ENSG00000166825	ENST00000300060	T	0.06142	3.34	4.87	4.87	0.63330	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.27278	0.0669	M	0.80616	2.505	0.54753	D	0.999984	D	0.89917	1.0	D	0.87578	0.998	T	0.02457	-1.1156	10	0.87932	D	0	.	15.4886	0.75587	0.0:0.0:1.0:0.0	rs8179199;rs8179199	321	P15144	AMPN_HUMAN	M	321	ENSP00000300060:T321M	ENSP00000300060:T321M	T	-	2	0	ANPEP	88148788	1.000000	0.71417	0.677000	0.29947	0.178000	0.23041	9.841000	0.99482	2.244000	0.73946	0.313000	0.20887	ACG		PASS	0.602	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313425.1			12	119	12	119	---	---	---	---
ASPHD1	253982	broad.mit.edu	37	16	29917137	29917137	+	Silent	SNP	C	C	A			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr16:29917137C>A	ENST00000308748.5	+	3	1344	c.1092C>A	c.(1090-1092)gtC>gtA	p.V364V	ASPHD1_ENST00000483405.1_Silent_p.V83V	NM_181718.3	NP_859069.2	Q5U4P2	ASPH1_HUMAN	aspartate beta-hydroxylase domain containing 1	364					peptidyl-amino acid modification (GO:0018193)	integral component of membrane (GO:0016021)	dioxygenase activity (GO:0051213)	p.V364V(1)		endometrium(4)|large_intestine(2)|lung(1)|prostate(1)	8						CTCGAGTGGTCTTCATCGTGG	0.602																																						uc002dut.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1090-1092)GTC>GTA		aspartate beta-hydroxylase domain containing 1							88.0	76.0	80.0					16																	29917137		2197	4300	6497	SO:0001819	synonymous_variant	253982				peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity	g.chr16:29917137C>A	AF070642	CCDS10660.1	16p11.2	2008-02-05			ENSG00000174939	ENSG00000174939			27380	protein-coding gene	gene with protein product							Standard	NM_181718		Approved		uc002dut.3	Q5U4P2	OTTHUMG00000132121	ENST00000308748.5:c.1092C>A	16.37:g.29917137C>A						uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|ASPHD1_uc002duu.3_RNA|ASPHD1_uc010bzi.2_RNA|KCTD13_uc010vee.1_Intron	p.V364V	NM_181718	NP_859069	Q5U4P2	ASPH1_HUMAN			3	1238	+			364			Lumenal (Potential).		A0AVE3|B7ZLZ3|Q8IW63|Q8N316|Q96H00	Silent	SNP	ENST00000308748.5	37	c.1092C>A	CCDS10660.1																																																																																				PASS	0.602	ASPHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255163.2	NM_181718		4	71	4	71	---	---	---	---
KAT8	84148	broad.mit.edu	37	16	31141397	31141397	+	Silent	SNP	C	C	T			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr16:31141397C>T	ENST00000543774.2	+	8	1166	c.831C>T	c.(829-831)taC>taT	p.Y277Y	KAT8_ENST00000219797.4_Silent_p.Y277Y|RP11-388M20.2_ENST00000563605.1_RNA|KAT8_ENST00000448516.2_Silent_p.Y277Y			Q9H7Z6	KAT8_HUMAN	K(lysine) acetyltransferase 8	277	MYST-type HAT.|Sufficient for interaction with KANSL1.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|myeloid cell differentiation (GO:0030099)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	histone acetyltransferase complex (GO:0000123)|kinetochore (GO:0000776)|MLL1 complex (GO:0071339)|MSL complex (GO:0072487)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|methylated histone binding (GO:0035064)|transcription factor binding (GO:0008134)	p.Y277Y(1)									AGACACTGTACTTTGACGTGG	0.557																																						uc002eay.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(829-831)TAC>TAT		MYST histone acetyltransferase 1 isoform 1							206.0	205.0	206.0					16																	31141397		2197	4300	6497	SO:0001819	synonymous_variant	84148				histone H4-K16 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex|MSL complex	histone acetyltransferase activity|metal ion binding|methylated histone residue binding|transcription factor binding	g.chr16:31141397C>T	AF217501	CCDS10706.1, CCDS45468.1	16p11.1	2013-01-10	2011-07-21	2011-07-21	ENSG00000103510	ENSG00000103510	2.3.1.48	"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"""	17933	protein-coding gene	gene with protein product		609912	"""MYST histone acetyltransferase 1"""	MYST1		10786633	Standard	NM_032188		Approved	MOF, FLJ14040, hMOF, ZC2HC8	uc002eax.3	Q9H7Z6	OTTHUMG00000132410	ENST00000543774.2:c.831C>T	16.37:g.31141397C>T						MYST1_uc002eax.2_Silent_p.Y277Y|MYST1_uc002eaz.2_Silent_p.Y119Y|MYST1_uc002eba.2_Silent_p.Y61Y|MYST1_uc002ebb.2_RNA	p.Y277Y	NM_032188	NP_115564	Q9H7Z6	MYST1_HUMAN			7	849	+			277					A8K4Z1|G5E9P2|Q659G0|Q7LC17|Q8IY59|Q8WYB4|Q8WZ14|Q9HAC5|Q9NR35	Silent	SNP	ENST00000543774.2	37	c.831C>T	CCDS10706.1																																																																																				PASS	0.557	KAT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000255546.3	NM_032188		10	308	10	308	---	---	---	---
PHKB	5257	broad.mit.edu	37	16	47695636	47695636	+	Missense_Mutation	SNP	A	A	G	rs369776235		TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr16:47695636A>G	ENST00000323584.5	+	23	2227	c.2203A>G	c.(2203-2205)Agt>Ggt	p.S735G	PHKB_ENST00000455779.1_Missense_Mutation_p.S728G|PHKB_ENST00000566044.1_Missense_Mutation_p.S728G|PHKB_ENST00000299167.8_Missense_Mutation_p.S735G	NM_000293.2	NP_000284.1	Q93100	KPBB_HUMAN	phosphorylase kinase, beta	735					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)	p.S735G(2)|p.S728G(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				TCAGGATTGCAGTTGTCTGGC	0.448																																						uc002eev.3																			3	Substitution - Missense(3)		lung(3)	ovary(1)|large_intestine(1)|breast(1)	3						c.(2203-2205)AGT>GGT		phosphorylase kinase, beta isoform a		A	GLY/SER,GLY/SER	1,4401	2.1+/-5.4	0,1,2200	93.0	84.0	87.0		2203,2182	3.5	1.0	16		87	0,8600		0,0,4300	no	missense,missense	PHKB	NM_000293.2,NM_001031835.2	56,56	0,1,6500	GG,GA,AA		0.0,0.0227,0.0077	benign,benign	735/1094,728/1087	47695636	1,13001	2201	4300	6501	SO:0001583	missense	5257				glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity	g.chr16:47695636A>G		CCDS10729.1, CCDS42161.1	16q12-q13	2009-07-10			ENSG00000102893	ENSG00000102893	2.7.11.19		8927	protein-coding gene	gene with protein product		172490					Standard	NM_000293		Approved		uc002eev.4	Q93100	OTTHUMG00000133102	ENST00000323584.5:c.2203A>G	16.37:g.47695636A>G	ENSP00000313504:p.Ser735Gly					PHKB_uc002eeu.3_Missense_Mutation_p.S728G	p.S735G	NM_000293	NP_000284	Q93100	KPBB_HUMAN			23	2255	+		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)	735					Q8N4T5	Missense_Mutation	SNP	ENST00000323584.5	37	c.2203A>G	CCDS10729.1	.	.	.	.	.	.	.	.	.	.	A	12.97	2.098703	0.37048	2.27E-4	0.0	ENSG00000102893	ENST00000299167;ENST00000455779;ENST00000323584	D;D	0.90955	-2.76;-2.76	6.07	3.47	0.39725	Glycoside hydrolase 15-related (1);	0.512444	0.23941	N	0.043041	D	0.86594	0.5970	L	0.58810	1.83	0.22888	N	0.998603	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.72669	-0.4223	10	0.27785	T	0.31	-7.2317	9.2758	0.37698	0.8249:0.0:0.1751:0.0	.	735;728	Q93100;Q93100-4	KPBB_HUMAN;.	G	728;728;735	ENSP00000414345:S728G;ENSP00000313504:S735G	ENSP00000299167:S728G	S	+	1	0	PHKB	46253137	1.000000	0.71417	0.992000	0.48379	0.995000	0.86356	3.634000	0.54302	0.384000	0.24942	0.533000	0.62120	AGT		PASS	0.448	PHKB-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000430413.1			19	85	19	85	---	---	---	---
CDH8	1006	broad.mit.edu	37	16	61747850	61747850	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr16:61747850C>G	ENST00000577390.1	-	10	2503	c.1549G>C	c.(1549-1551)Gtt>Ctt	p.V517L	CDH8_ENST00000580044.1_5'UTR|CDH8_ENST00000299345.6_Missense_Mutation_p.V517L|CDH8_ENST00000577730.1_Missense_Mutation_p.V517L	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	517	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)	p.V517L(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		ATGGCGCTAACAGTTTGAATG	0.393																																						uc002eog.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(2)|breast(1)	9						c.(1549-1551)GTT>CTT		cadherin 8, type 2 preproprotein							140.0	144.0	143.0					16																	61747850		2202	4300	6502	SO:0001583	missense	1006				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:61747850C>G	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.1549G>C	16.37:g.61747850C>G	ENSP00000462701:p.Val517Leu						p.V517L	NM_001796	NP_001787	P55286	CADH8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	10	1801	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	517			Extracellular (Potential).|Cadherin 5.		B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	ENST00000577390.1	37	c.1549G>C	CCDS10802.1	.	.	.	.	.	.	.	.	.	.	C	12.37	1.917880	0.33815	.	.	ENSG00000150394	ENST00000299345	T	0.54279	0.58	6.07	6.07	0.98685	Cadherin (4);Cadherin-like (1);	0.167086	0.53938	D	0.000055	T	0.36082	0.0954	N	0.11313	0.125	0.80722	D	1	B	0.06786	0.001	B	0.15484	0.013	T	0.13361	-1.0512	10	0.46703	T	0.11	.	14.7663	0.69642	0.0:0.9316:0.0:0.0684	.	517	P55286	CADH8_HUMAN	L	517	ENSP00000299345:V517L	ENSP00000299345:V517L	V	-	1	0	CDH8	60305351	0.998000	0.40836	1.000000	0.80357	0.921000	0.55340	2.175000	0.42491	2.885000	0.99019	0.655000	0.94253	GTT		PASS	0.393	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		11	75	11	75	---	---	---	---
ZFHX3	463	broad.mit.edu	37	16	72828130	72828130	+	Silent	SNP	G	G	A			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr16:72828130G>A	ENST00000268489.5	-	9	9123	c.8451C>T	c.(8449-8451)tcC>tcT	p.S2817S	RP5-991G20.4_ENST00000569195.1_RNA|ZFHX3_ENST00000397992.5_Silent_p.S1903S	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2817					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.S2817S(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CTGAGGACATGGAGGGGCTTT	0.463																																						uc002fck.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)	4						c.(8449-8451)TCC>TCT		zinc finger homeobox 3 isoform A							130.0	119.0	123.0					16																	72828130		2198	4300	6498	SO:0001819	synonymous_variant	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72828130G>A	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.8451C>T	16.37:g.72828130G>A						ZFHX3_uc002fcl.2_Silent_p.S1903S	p.S2817S	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN			9	9124	-		Ovarian(137;0.13)	2817					D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	37	c.8451C>T	CCDS10908.1																																																																																				PASS	0.463	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		4	130	4	130	---	---	---	---
MYH8	4626	broad.mit.edu	37	17	10315735	10315735	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr17:10315735C>A	ENST00000403437.2	-	14	1462	c.1368G>T	c.(1366-1368)agG>agT	p.R456S	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	456	Myosin motor.				ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)	p.R456S(1)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TGAAGTACTGCCTGGGCTGCT	0.483									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													uc002gmm.2																			1	Substitution - Missense(1)		lung(1)	skin(6)|ovary(3)|breast(2)	11						c.(1366-1368)AGG>AGT		myosin, heavy chain 8, skeletal muscle,							188.0	183.0	185.0					17																	10315735		2203	4300	6503	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10315735C>A		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.1368G>T	17.37:g.10315735C>A	ENSP00000384330:p.Arg456Ser					uc002gml.1_Intron	p.R456S	NM_002472	NP_002463	P13535	MYH8_HUMAN			14	1463	-			456			Myosin head-like.		Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.1368G>T	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	C	18.22	3.575868	0.65878	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.87029	-2.2	4.81	0.335	0.15953	Myosin head, motor domain (2);	0.000000	0.45867	U	0.000336	D	0.90393	0.6993	M	0.62154	1.92	0.45261	D	0.998269	D	0.76494	0.999	D	0.83275	0.996	D	0.88648	0.3180	10	0.66056	D	0.02	.	10.1137	0.42579	0.0:0.6156:0.0:0.3844	.	456	P13535	MYH8_HUMAN	S	456	ENSP00000384330:R456S	ENSP00000252173:R456S	R	-	3	2	MYH8	10256460	0.005000	0.15991	1.000000	0.80357	0.999000	0.98932	-1.255000	0.02872	0.250000	0.21479	0.650000	0.86243	AGG		PASS	0.483	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		35	206	35	206	---	---	---	---
KAT2A	2648	broad.mit.edu	37	17	40269416	40269416	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr17:40269416C>T	ENST00000225916.5	-	10	1680	c.1627G>A	c.(1627-1629)Gtc>Atc	p.V543I		NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	543	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				cell proliferation (GO:0008283)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|histone H3-K14 acetylation (GO:0044154)|in utero embryonic development (GO:0001701)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|positive regulation of gluconeogenesis (GO:0045722)|regulation of protein stability (GO:0031647)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|somitogenesis (GO:0001756)|telencephalon development (GO:0021537)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|extracellular space (GO:0005615)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	chromatin binding (GO:0003682)|H3 histone acetyltransferase activity (GO:0010484)|histone acetyltransferase activity (GO:0004402)|histone acetyltransferase activity (H4-K12 specific) (GO:0043997)|histone deacetylase binding (GO:0042826)|transcription coactivator activity (GO:0003713)	p.V543I(1)		central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						GGGTCAAAGACGAGGCGGGCG	0.637																																						uc002hyx.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|lung(1)	2						c.(1627-1629)GTC>ATC		general control of amino acid synthesis 5-like							30.0	34.0	32.0					17																	40269416		2202	4298	6500	SO:0001583	missense	2648				chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity	g.chr17:40269416C>T	AF029777	CCDS11417.1	17q12-q21	2011-07-01	2008-07-04	2008-07-04	ENSG00000108773	ENSG00000108773		"""Chromatin-modifying enzymes / K-acetyltransferases"""	4201	protein-coding gene	gene with protein product		602301	"""GCN5 general control of amino-acid synthesis 5-like 2 (yeast)"""	GCN5L2		8552087	Standard	NM_021078		Approved	GCN5, PCAF-b	uc002hyx.2	Q92830	OTTHUMG00000133504	ENST00000225916.5:c.1627G>A	17.37:g.40269416C>T	ENSP00000225916:p.Val543Ile						p.V543I	NM_021078	NP_066564	Q92830	KAT2A_HUMAN			10	1687	-			543			N-acetyltransferase.		Q8N1A2|Q9UCW1	Missense_Mutation	SNP	ENST00000225916.5	37	c.1627G>A	CCDS11417.1	.	.	.	.	.	.	.	.	.	.	C	18.95	3.731033	0.69074	.	.	ENSG00000108773	ENST00000225916	T	0.11930	2.73	4.47	4.47	0.54385	GCN5-related N-acetyltransferase (GNAT) domain (1);Acyl-CoA N-acyltransferase (2);	0.062950	0.64402	D	0.000007	T	0.15435	0.0372	L	0.52206	1.635	0.80722	D	1	B	0.31351	0.32	B	0.26416	0.069	T	0.04347	-1.0958	10	0.46703	T	0.11	-29.1367	17.5458	0.87861	0.0:1.0:0.0:0.0	.	543	Q92830	KAT2A_HUMAN	I	543	ENSP00000225916:V543I	ENSP00000225916:V543I	V	-	1	0	KAT2A	37522942	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	7.818000	0.86416	2.223000	0.72356	0.561000	0.74099	GTC		PASS	0.637	KAT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257458.1	NM_021078		6	64	6	64	---	---	---	---
DCAKD	79877	broad.mit.edu	37	17	43111557	43111557	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr17:43111557C>A	ENST00000452796.2	-	2	569	c.314G>T	c.(313-315)cGg>cTg	p.R105L	DCAKD_ENST00000310604.4_Missense_Mutation_p.R105L|DCAKD_ENST00000588295.1_5'UTR|DCAKD_ENST00000588499.1_Missense_Mutation_p.R105L|DCAKD_ENST00000342350.5_Missense_Mutation_p.R105L			Q8WVC6	DCAKD_HUMAN	dephospho-CoA kinase domain containing	105	DPCK.				coenzyme A biosynthetic process (GO:0015937)	membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|dephospho-CoA kinase activity (GO:0004140)	p.R105L(1)		cervix(1)|endometrium(1)|large_intestine(1)|lung(2)|skin(1)	6		Prostate(33;0.155)				GCACTTACCCCGGAGGAAGTA	0.622																																						uc002ihx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(313-315)CGG>CTG		dephospho-CoA kinase domain containing							46.0	48.0	48.0					17																	43111557		2203	4300	6503	SO:0001583	missense	79877				coenzyme A biosynthetic process		ATP binding|dephospho-CoA kinase activity	g.chr17:43111557C>A	BC006546	CCDS11493.1	17q21.31	2005-12-20				ENSG00000172992			26238	protein-coding gene	gene with protein product							Standard	XM_005257688		Approved	FLJ22955	uc010daa.1	Q8WVC6		ENST00000452796.2:c.314G>T	17.37:g.43111557C>A	ENSP00000413483:p.Arg105Leu					DCAKD_uc010daa.1_Missense_Mutation_p.R105L|DCAKD_uc010dab.1_Missense_Mutation_p.R105L|DCAKD_uc002ihy.2_Missense_Mutation_p.R105L	p.R105L	NM_024819	NP_079095	Q8WVC6	DCAKD_HUMAN			2	570	-		Prostate(33;0.155)	105			DPCK.		A8K3Z0|D3DX60|D3DX62|Q9BR71|Q9H5W1	Missense_Mutation	SNP	ENST00000452796.2	37	c.314G>T	CCDS11493.1	.	.	.	.	.	.	.	.	.	.	C	11.38	1.620543	0.28801	.	.	ENSG00000172992	ENST00000342350;ENST00000452796;ENST00000310604	T;T;T	0.49432	0.97;0.97;0.78	5.15	0.805	0.18703	.	0.539513	0.21531	N	0.073051	T	0.24699	0.0599	N	0.17764	0.52	0.33573	D	0.59881	B;B	0.20368	0.044;0.001	B;B	0.22152	0.038;0.007	T	0.13575	-1.0504	10	0.18276	T	0.48	-9.1618	3.6818	0.08313	0.2804:0.3494:0.0:0.3702	.	105;105	Q8WVC6-2;Q8WVC6	.;DCAKD_HUMAN	L	105	ENSP00000341504:R105L;ENSP00000413483:R105L;ENSP00000308515:R105L	ENSP00000308515:R105L	R	-	2	0	DCAKD	40467083	0.721000	0.28007	0.999000	0.59377	0.775000	0.43874	0.106000	0.15354	0.357000	0.24183	0.561000	0.74099	CGG		PASS	0.622	DCAKD-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449066.1	NM_024819		15	42	15	42	---	---	---	---
FMNL1	752	broad.mit.edu	37	17	43321333	43321333	+	Missense_Mutation	SNP	C	C	A	rs138140582		TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr17:43321333C>A	ENST00000331495.3	+	18	2725	c.2389C>A	c.(2389-2391)Cgc>Agc	p.R797S	CTD-2020K17.4_ENST00000420431.2_RNA|CTD-2020K17.3_ENST00000587534.1_RNA|FMNL1_ENST00000587489.1_Missense_Mutation_p.R375S|FMNL1_ENST00000328118.3_Missense_Mutation_p.R797S|CTD-2020K17.3_ENST00000393507.2_RNA	NM_005892.3	NP_005883	O95466	FMNL_HUMAN	formin-like 1	797	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin filament severing (GO:0051014)|cortical actin cytoskeleton organization (GO:0030866)|regulation of cell shape (GO:0008360)|substrate-dependent cell migration (GO:0006929)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|GTPase activating protein binding (GO:0032794)|Rac GTPase binding (GO:0048365)	p.R797S(1)		biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						CCTGCCGGAGCGCATGACCAC	0.662																																					GBM(164;1247 1997 8702 11086 51972)	uc002iin.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(2389-2391)CGC>AGC		formin-like 1							72.0	70.0	71.0					17																	43321333		2203	4300	6503	SO:0001583	missense	752				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr17:43321333C>A	AJ008112	CCDS11497.1	17q21.31	2008-05-14	2003-12-02	2003-12-03		ENSG00000184922			1212	protein-coding gene	gene with protein product		604656	"""formin-like"""	C17orf1B, FMNL		9799091	Standard	NM_005892		Approved	C17orf1	uc002iin.3	O95466		ENST00000331495.3:c.2389C>A	17.37:g.43321333C>A	ENSP00000329219:p.Arg797Ser					FMNL1_uc002iiq.2_Missense_Mutation_p.R375S|FMNL1_uc010dag.2_RNA	p.R797S	NM_005892	NP_005883	O95466	FMNL_HUMAN			18	2589	+			797			FH2.		D2DGW2|Q6DKG5|Q6IBP3|Q86UH1|Q8N671|Q8TDH1|Q96H10	Missense_Mutation	SNP	ENST00000331495.3	37	c.2389C>A	CCDS11497.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.006974	0.74932	.	.	ENSG00000184922	ENST00000328118;ENST00000331495;ENST00000539884	T;T	0.40225	1.04;1.04	4.19	3.13	0.36017	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	T	0.67785	0.2930	M	0.91818	3.245	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	T	0.74615	-0.3606	10	0.87932	D	0	.	10.8865	0.46971	0.2875:0.7125:0.0:0.0	.	797	O95466	FMNL_HUMAN	S	797;797;452	ENSP00000327442:R797S;ENSP00000329219:R797S	ENSP00000327442:R797S	R	+	1	0	FMNL1	40677116	0.992000	0.36948	1.000000	0.80357	0.900000	0.52787	0.518000	0.22847	2.328000	0.79073	0.462000	0.41574	CGC		PASS	0.662	FMNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450198.1	NM_005892		7	101	7	101	---	---	---	---
MAP2K6	5608	broad.mit.edu	37	17	67515558	67515558	+	Silent	SNP	C	C	T	rs55977235		TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr17:67515558C>T	ENST00000590474.1	+	5	638	c.351C>T	c.(349-351)ggC>ggT	p.G117G	MAP2K6_ENST00000589647.1_Silent_p.G61G	NM_002758.3	NP_002749.2	P52564	MP2K6_HUMAN	mitogen-activated protein kinase kinase 6	117	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cell cycle arrest (GO:0007050)|cellular response to sorbitol (GO:0072709)|DNA damage induced protein phosphorylation (GO:0006975)|innate immune response (GO:0045087)|muscle cell differentiation (GO:0042692)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to ischemia (GO:0002931)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.G117G(1)		central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	20	Breast(10;6.05e-10)					CCTTTTATGGCGCACTGTTTC	0.433													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20885	0.0		0.0	False		,,,				2504	0.0					uc002jij.2																			1	Substitution - coding silent(1)		lung(1)	lung(2)|stomach(1)|ovary(1)|pancreas(1)	5						c.(349-351)GGC>GGT		mitogen-activated protein kinase kinase 6		C		1,4405	2.1+/-5.4	0,1,2202	200.0	181.0	188.0		351	-1.8	1.0	17	dbSNP_129	188	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	MAP2K6	NM_002758.3		0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231		117/335	67515558	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	5608				activation of MAPK activity|cell cycle arrest|DNA damage induced protein phosphorylation|innate immune response|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of muscle cell differentiation|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:67515558C>T	U39064	CCDS11686.1	17q	2011-06-09						"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6846	protein-coding gene	gene with protein product	"""protein kinase, mitogen-activated, kinase 6 (MAP kinase kinase 6)"""	601254		PRKMK6		8621675	Standard	XM_005257515		Approved	MEK6, MKK6, SAPKK3, MAPKK6	uc002jij.3	P52564		ENST00000590474.1:c.351C>T	17.37:g.67515558C>T						MAP2K6_uc002jii.2_Silent_p.G117G|MAP2K6_uc002jik.2_Silent_p.G147G	p.G117G	NM_002758	NP_002749	P52564	MP2K6_HUMAN			5	639	+	Breast(10;6.05e-10)		117			Protein kinase.			Silent	SNP	ENST00000590474.1	37	c.351C>T	CCDS11686.1																																																																																				PASS	0.433	MAP2K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450689.1	NM_002758		5	212	5	212	---	---	---	---
ITGB4	3691	broad.mit.edu	37	17	73727038	73727038	+	Missense_Mutation	SNP	C	C	A	rs531539918		TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr17:73727038C>A	ENST00000200181.3	+	9	1272	c.1085C>A	c.(1084-1086)gCc>gAc	p.A362D	ITGB4_ENST00000449880.2_Missense_Mutation_p.A362D|ITGB4_ENST00000339591.3_Missense_Mutation_p.A362D|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000450894.3_Missense_Mutation_p.A362D|ITGB4_ENST00000579662.1_Missense_Mutation_p.A362D	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	362					amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)	p.A362D(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTGGAGGAGGCCTTCAATGTG	0.612																																						uc002jpg.2																			1	Substitution - Missense(1)		lung(1)	lung(4)	4						c.(1084-1086)GCC>GAC		integrin beta 4 isoform 1 precursor							79.0	80.0	80.0					17																	73727038		2203	4300	6503	SO:0001583	missense	3691				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity	g.chr17:73727038C>A		CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"""CD molecules"", ""Integrins"", ""Fibronectin type III domain containing"""	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.1085C>A	17.37:g.73727038C>A	ENSP00000200181:p.Ala362Asp					ITGB4_uc002jph.2_Missense_Mutation_p.A362D|ITGB4_uc010dgo.2_Missense_Mutation_p.A362D|ITGB4_uc002jpi.3_Missense_Mutation_p.A362D|ITGB4_uc010dgp.1_Missense_Mutation_p.A362D|ITGB4_uc002jpj.2_Missense_Mutation_p.A362D|ITGB4_uc010wsh.1_5'Flank	p.A362D	NM_000213	NP_000204	P16144	ITB4_HUMAN	all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		9	1272	+	all_cancers(13;1.5e-07)		362			Extracellular (Potential).		A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Missense_Mutation	SNP	ENST00000200181.3	37	c.1085C>A	CCDS11727.1	.	.	.	.	.	.	.	.	.	.	C	16.85	3.237616	0.58886	.	.	ENSG00000132470	ENST00000450894;ENST00000200181;ENST00000339591;ENST00000449880	D;D;D;D	0.93859	-3.3;-3.27;-3.27;-3.27	5.42	5.42	0.78866	Integrin beta subunit, N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.97813	0.9282	H	0.94264	3.515	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;1.0;1.0	D;D;D;D	0.97110	0.986;0.999;1.0;1.0	D	0.98750	1.0720	10	0.87932	D	0	.	19.2141	0.93768	0.0:1.0:0.0:0.0	.	362;362;362;362	P16144-5;P16144-3;A0AVL6;P16144	.;.;.;ITB4_HUMAN	D	278;362;362;362	ENSP00000405536:A278D;ENSP00000200181:A362D;ENSP00000344079:A362D;ENSP00000400217:A362D	ENSP00000200181:A362D	A	+	2	0	ITGB4	71238633	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.106000	0.77039	2.545000	0.85829	0.557000	0.71058	GCC		PASS	0.612	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1			6	101	6	101	---	---	---	---
RPTOR	57521	broad.mit.edu	37	17	78867568	78867568	+	Silent	SNP	C	C	T			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr17:78867568C>T	ENST00000306801.3	+	20	2666	c.2304C>T	c.(2302-2304)acC>acT	p.T768T	RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Silent_p.T610T	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	768					cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nutrient levels (GO:0031669)|insulin receptor signaling pathway (GO:0008286)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|regulation of cell size (GO:0008361)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|TORC1 complex (GO:0031931)	14-3-3 protein binding (GO:0071889)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)	p.T768T(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						CCAGCAGCACCCTGGGCAGCC	0.667																																						uc002jyt.1																			1	Substitution - coding silent(1)		lung(1)	lung(4)|urinary_tract(1)|ovary(1)	6						c.(2302-2304)ACC>ACT		raptor isoform 1							72.0	64.0	66.0					17																	78867568		2203	4300	6503	SO:0001819	synonymous_variant	57521				cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding	g.chr17:78867568C>T		CCDS11773.1, CCDS54175.1	17q25.3	2013-01-10				ENSG00000141564		"""WD repeat domain containing"""	30287	protein-coding gene	gene with protein product	"""regulatory associated protein of mTOR"""	607130				10718198, 12150926	Standard	NM_001163034		Approved	KOG1, Mip1, KIAA1303, raptor	uc002jyt.1	Q8N122		ENST00000306801.3:c.2304C>T	17.37:g.78867568C>T						RPTOR_uc010wug.1_Silent_p.T610T	p.T768T	NM_020761	NP_065812	Q8N122	RPTOR_HUMAN			20	3109	+			768					B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Silent	SNP	ENST00000306801.3	37	c.2304C>T	CCDS11773.1																																																																																				PASS	0.667	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438125.1	NM_020761		12	68	12	68	---	---	---	---
ROCK1	6093	broad.mit.edu	37	18	18533574	18533574	+	Silent	SNP	G	G	A			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr18:18533574G>A	ENST00000399799.2	-	32	4966	c.4026C>T	c.(4024-4026)ttC>ttT	p.F1342F		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	1342	Auto-inhibitory.				actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.F1342F(1)		NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					CCACTTTCCGGAAAGACTGAT	0.358																																						uc002kte.2																			1	Substitution - coding silent(1)		lung(1)	lung(2)|breast(2)|central_nervous_system(1)	5						c.(4024-4026)TTC>TTT		Rho-associated, coiled-coil containing protein							95.0	105.0	101.0					18																	18533574		2201	4297	6498	SO:0001819	synonymous_variant	6093				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr18:18533574G>A		CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10251	protein-coding gene	gene with protein product		601702				8617235	Standard	NM_005406		Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.4026C>T	18.37:g.18533574G>A							p.F1342F	NM_005406	NP_005397	Q13464	ROCK1_HUMAN			32	4967	-	Melanoma(1;0.165)		1342			Auto-inhibitory.		B0YJ91|Q2KHM4|Q59GZ4	Silent	SNP	ENST00000399799.2	37	c.4026C>T	CCDS11870.2																																																																																				PASS	0.358	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254641.2	NM_005406		5	247	5	247	---	---	---	---
NPC1	4864	broad.mit.edu	37	18	21123435	21123435	+	Silent	SNP	A	A	T			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr18:21123435A>T	ENST00000269228.5	-	14	2783	c.2229T>A	c.(2227-2229)acT>acA	p.T743T	NPC1_ENST00000412552.2_Silent_p.T425T|NPC1_ENST00000540608.1_5'UTR	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	743	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				adult walking behavior (GO:0007628)|autophagy (GO:0006914)|bile acid metabolic process (GO:0008206)|cellular response to low-density lipoprotein particle stimulus (GO:0071404)|cellular response to steroid hormone stimulus (GO:0071383)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|establishment of protein localization to membrane (GO:0090150)|lysosomal transport (GO:0007041)|membrane raft organization (GO:0031579)|negative regulation of cell death (GO:0060548)|negative regulation of macroautophagy (GO:0016242)|protein glycosylation (GO:0006486)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	cholesterol binding (GO:0015485)|hedgehog receptor activity (GO:0008158)|receptor activity (GO:0004872)|sterol transporter activity (GO:0015248)|transmembrane signaling receptor activity (GO:0004888)	p.T743T(1)		breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AAAATGCTACAGTCTCAGAAA	0.488																																						uc002kum.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(2227-2229)ACT>ACA		Niemann-Pick disease, type C1 precursor							102.0	103.0	103.0					18																	21123435		2203	4300	6503	SO:0001819	synonymous_variant	4864				autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity	g.chr18:21123435A>T	AF002020	CCDS11878.1	18q11.2	2014-06-17			ENSG00000141458	ENSG00000141458			7897	protein-coding gene	gene with protein product		607623				8446622	Standard	NM_000271		Approved		uc002kum.4	O15118	OTTHUMG00000131873	ENST00000269228.5:c.2229T>A	18.37:g.21123435A>T						NPC1_uc010xaz.1_Silent_p.T476T|NPC1_uc010xba.1_Silent_p.T588T	p.T743T	NM_000271	NP_000262	O15118	NPC1_HUMAN			14	2503	-	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)		743			SSD.		B4DET3|Q9P130	Silent	SNP	ENST00000269228.5	37	c.2229T>A	CCDS11878.1																																																																																				PASS	0.488	NPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254823.2	NM_000271		15	90	15	90	---	---	---	---
ZNF532	55205	broad.mit.edu	37	18	56587032	56587032	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr18:56587032G>C	ENST00000336078.4	+	4	2289	c.1513G>C	c.(1513-1515)Gtc>Ctc	p.V505L	ZNF532_ENST00000589288.1_Missense_Mutation_p.V505L|ZNF532_ENST00000591083.1_Missense_Mutation_p.V505L|ZNF532_ENST00000591230.1_Missense_Mutation_p.V505L|ZNF532_ENST00000591808.1_Missense_Mutation_p.V505L	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	505					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V505L(1)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						GCAGCAAACTGTCGTGGTGCC	0.572																																						uc002lho.2																			1	Substitution - Missense(1)		lung(1)	breast(1)|skin(1)	2						c.(1513-1515)GTC>CTC		zinc finger protein 532							33.0	29.0	30.0					18																	56587032		2203	4300	6503	SO:0001583	missense	55205				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:56587032G>C	AB046849	CCDS11969.1	18q21.32	2005-08-22			ENSG00000074657	ENSG00000074657		"""Zinc fingers, C2H2-type"""	30940	protein-coding gene	gene with protein product						10997877	Standard	XM_005266723		Approved	FLJ10697	uc002lho.3	Q9HCE3	OTTHUMG00000132759	ENST00000336078.4:c.1513G>C	18.37:g.56587032G>C	ENSP00000338217:p.Val505Leu					ZNF532_uc002lhp.2_Missense_Mutation_p.V503L|ZNF532_uc010xeg.1_Missense_Mutation_p.V503L|ZNF532_uc002lhr.2_Missense_Mutation_p.V503L|ZNF532_uc002lhs.2_Missense_Mutation_p.V503L	p.V505L	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN			4	2060	+			505					Q4G0V6|Q7L7Z7|Q96QR7|Q9NVJ6	Missense_Mutation	SNP	ENST00000336078.4	37	c.1513G>C	CCDS11969.1	.	.	.	.	.	.	.	.	.	.	g	18.22	3.576718	0.65878	.	.	ENSG00000074657	ENST00000336078	T	0.01745	4.66	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.09642	0.0237	L	0.61218	1.895	0.80722	D	1	D	0.65815	0.995	D	0.74674	0.984	T	0.01748	-1.1282	10	0.48119	T	0.1	-0.0477	19.3114	0.94188	0.0:0.0:1.0:0.0	.	505	Q9HCE3	ZN532_HUMAN	L	505	ENSP00000338217:V505L	ENSP00000338217:V505L	V	+	1	0	ZNF532	54738012	1.000000	0.71417	0.926000	0.36857	0.903000	0.53119	9.753000	0.98904	2.663000	0.90544	0.544000	0.68410	GTC		PASS	0.572	ZNF532-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256130.1	NM_018181		5	49	5	49	---	---	---	---
AES	166	broad.mit.edu	37	19	3055671	3055671	+	Silent	SNP	G	G	C			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr19:3055671G>C	ENST00000327141.4	-	5	644	c.288C>G	c.(286-288)ctC>ctG	p.L96L	AC005944.2_ENST00000592758.1_RNA|AES_ENST00000586839.1_Silent_p.L40L|AES_ENST00000221561.8_Silent_p.L163L|AES_ENST00000592330.1_Intron	NM_001130.5|NM_198970.1	NP_001121.2|NP_945321.1	Q08117	AES_HUMAN	amino-terminal enhancer of split	96	Gln-rich (Q domain).				multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of gene expression (GO:0010629)|negative regulation of protein binding (GO:0032091)|negative regulation of response to cytokine stimulus (GO:0060761)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|positive regulation of anoikis (GO:2000210)|response to interleukin-1 (GO:0070555)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)	p.L163L(1)		lung(8)	8		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)		CCTCTTGGGAGAGGTAGGGCA	0.637																																					Pancreas(11;265 407 11814 26840 35326)	uc002lwy.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(286-288)CTC>CTG		amino-terminal enhancer of split isoform b							64.0	63.0	63.0					19																	3055671		2203	4300	6503	SO:0001819	synonymous_variant	166				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of response to cytokine stimulus|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|response to interleukin-1|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity	g.chr19:3055671G>C	AK094591	CCDS12101.1, CCDS12102.1	19p13.3	2008-02-05							307	protein-coding gene	gene with protein product		600188				8365415	Standard	NM_001130		Approved	GRG5, TLE5	uc002lwx.1	Q08117		ENST00000327141.4:c.288C>G	19.37:g.3055671G>C						AES_uc002lwx.1_3'UTR|AES_uc002lwz.1_Silent_p.L96L|AES_uc002lxa.1_Silent_p.L40L|AES_uc002lxb.1_Silent_p.L163L|AES_uc002lxc.2_Silent_p.L163L	p.L96L	NM_001130	NP_001121	Q08117	AES_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)	5	461	-		Hepatocellular(1079;0.137)	96			Gln-rich (Q domain).		B2RBL0|Q12808|Q14CJ1|Q96TG9|Q9UDY9	Silent	SNP	ENST00000327141.4	37	c.288C>G	CCDS12102.1																																																																																				PASS	0.637	AES-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452154.1	NM_198969		4	68	4	68	---	---	---	---
TICAM1	148022	broad.mit.edu	37	19	4817415	4817415	+	Silent	SNP	G	G	A			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr19:4817415G>A	ENST00000248244.5	-	2	1204	c.975C>T	c.(973-975)ccC>ccT	p.P325P		NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	325	Pro-rich.				apoptotic signaling pathway (GO:0097190)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation involved in immune response (GO:0002281)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|regulation of protein homodimerization activity (GO:0043496)|response to exogenous dsRNA (GO:0043330)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|ripoptosome (GO:0097342)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)	p.P325P(1)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		TGACAGAGCAGGGGTTTTTGA	0.567																																						uc002mbi.2																			1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(973-975)CCC>CCT		toll-like receptor adaptor molecule 1							45.0	49.0	48.0					19																	4817415		2202	4295	6497	SO:0001819	synonymous_variant	148022				apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein kinase binding|signal transducer activity	g.chr19:4817415G>A	AB086380	CCDS12136.1	19p13.3	2014-09-17				ENSG00000127666			18348	protein-coding gene	gene with protein product		607601				12539043, 12471095	Standard	NM_182919		Approved	TRIF, TICAM-1, MGC35334, PRVTIRB	uc002mbi.4	Q8IUC6		ENST00000248244.5:c.975C>T	19.37:g.4817415G>A							p.P325P	NM_182919	NP_891549	Q8IUC6	TCAM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)	2	1226	-			325			Pro-rich.		B3Y691|O75532|Q86XP8|Q96GA0	Silent	SNP	ENST00000248244.5	37	c.975C>T	CCDS12136.1																																																																																				PASS	0.567	TICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450435.1	NM_014261		15	88	15	88	---	---	---	---
CAMSAP3	57662	broad.mit.edu	37	19	7682718	7682718	+	Silent	SNP	G	G	A	rs369401359		TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr19:7682718G>A	ENST00000160298.4	+	17	3626	c.3525G>A	c.(3523-3525)ctG>ctA	p.L1175L	CAMSAP3_ENST00000446248.2_Silent_p.L1202L	NM_020902.1	NP_065953.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	1175	CKK. {ECO:0000255|PROSITE- ProRule:PRU00841}.				epithelial cell-cell adhesion (GO:0090136)|microtubule anchoring (GO:0034453)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of organelle organization (GO:0033043)|zonula adherens maintenance (GO:0045218)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)|zonula adherens (GO:0005915)	microtubule minus-end binding (GO:0051011)	p.L1202L(2)|p.L1175L(1)		cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						TCTACACGCTGTCGGGGGAGA	0.612																																						uc002mgv.3																			3	Substitution - coding silent(3)		lung(3)	pancreas(1)	1						c.(3523-3525)CTG>CTA		NEZHA isoform 2							25.0	30.0	28.0					19																	7682718		1981	4138	6119	SO:0001819	synonymous_variant	57662				epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding	g.chr19:7682718G>A	AB040976	CCDS42489.1, CCDS45947.1	19p13.3-p13.2	2014-06-12	2011-08-18	2011-08-18		ENSG00000076826			29307	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 80"""	612685	"""KIAA1543"""	KIAA1543		11318610, 10819331, 19041755, 19508979	Standard	NM_001080429		Approved	Nezha, PPP1R80	uc002mgu.4	Q9P1Y5		ENST00000160298.4:c.3525G>A	19.37:g.7682718G>A						KIAA1543_uc002mgu.3_Silent_p.L1202L|KIAA1543_uc002mgw.2_Silent_p.L305L	p.L1175L	NM_020902	NP_065953	Q9P1Y5	CAMP3_HUMAN			17	3626	+			1175			CKK.		Q8NDF1	Silent	SNP	ENST00000160298.4	37	c.3525G>A	CCDS42489.1																																																																																				PASS	0.612	CAMSAP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459300.1	XM_048362		8	30	8	30	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9088858	9088858	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr19:9088858G>A	ENST00000397910.4	-	1	3160	c.2957C>T	c.(2956-2958)tCa>tTa	p.S986L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	986	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.S986L(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGCAGAGGTTGAAACAGTGGT	0.463																																						uc002mkp.2																			2	Substitution - Missense(2)		lung(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(2956-2958)TCA>TTA		mucin 16							268.0	254.0	258.0					19																	9088858		1993	4165	6158	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9088858G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.2957C>T	19.37:g.9088858G>A	ENSP00000381008:p.Ser986Leu						p.S986L	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	3161	-			986			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.2957C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	6.734	0.504219	0.12822	.	.	ENSG00000181143	ENST00000397910	T	0.02656	4.21	1.27	1.27	0.21489	.	.	.	.	.	T	0.02119	0.0066	N	0.08118	0	.	.	.	D	0.55172	0.97	P	0.46275	0.51	T	0.45833	-0.9234	8	0.87932	D	0	.	5.9117	0.19031	0.0:0.0:1.0:0.0	.	986	B5ME49	.	L	986	ENSP00000381008:S986L	ENSP00000381008:S986L	S	-	2	0	MUC16	8949858	0.001000	0.12720	0.002000	0.10522	0.299000	0.27559	0.854000	0.27791	0.995000	0.38917	0.205000	0.17691	TCA		PASS	0.463	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		14	331	14	331	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9089167	9089167	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr19:9089167C>T	ENST00000397910.4	-	1	2851	c.2648G>A	c.(2647-2649)aGa>aAa	p.R883K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	883	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.R883K(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGTCCTTACTCTGGAAACAGA	0.483																																						uc002mkp.2																			2	Substitution - Missense(2)		lung(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(2647-2649)AGA>AAA		mucin 16							83.0	86.0	85.0					19																	9089167		1965	4147	6112	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9089167C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.2648G>A	19.37:g.9089167C>T	ENSP00000381008:p.Arg883Lys						p.R883K	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	2852	-			883			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.2648G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	8.310	0.821990	0.16678	.	.	ENSG00000181143	ENST00000397910	T	0.02579	4.24	1.37	1.37	0.22104	.	.	.	.	.	T	0.01800	0.0057	N	0.14661	0.345	.	.	.	P	0.34977	0.478	B	0.28916	0.096	T	0.37126	-0.9719	8	0.87932	D	0	.	6.1404	0.20257	0.0:1.0:0.0:0.0	.	883	B5ME49	.	K	883	ENSP00000381008:R883K	ENSP00000381008:R883K	R	-	2	0	MUC16	8950167	0.000000	0.05858	0.001000	0.08648	0.309000	0.27889	0.089000	0.15002	1.062000	0.40625	0.205000	0.17691	AGA		PASS	0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		3	38	3	38	---	---	---	---
CYP4F8	11283	broad.mit.edu	37	19	15739591	15739591	+	RNA	SNP	C	C	T	rs376016975	byFrequency	TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr19:15739591C>T	ENST00000441682.2	+	0	1396							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						icosanoid metabolic process (GO:0006690)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alkane 1-monooxygenase activity (GO:0018685)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.F444F(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						CCTTCCGCTTCGACCCAGAAA	0.602													c|||	2	0.000399361	0.0015	0.0	5008	,	,		15815	0.0		0.0	False		,,,				2504	0.0					uc002nbi.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)	1						c.(1333-1335)TTC>TTT		cytochrome P450, family 4, subfamily F,		C		5,3923		0,5,1959	58.0	62.0	61.0		1334	-4.8	0.6	19		61	0,8314		0,0,4157	no	coding-synonymous	CYP4F8	NM_007253.3		0,5,6116	TT,TC,CC		0.0,0.1273,0.0408		445/521	15739591	5,12237	1964	4157	6121			11283				prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding	g.chr19:15739591C>T	AF133298	CCDS74303.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186526	ENSG00000186526		"""Cytochrome P450s"""	2648	protein-coding gene	gene with protein product		611545	"""cytochrome P450, subfamily IVF, polypeptide 8"""			10405341	Standard	NM_007253		Approved		uc002nbi.3	P98187	OTTHUMG00000182386		19.37:g.15739591C>T						CYP4F8_uc010xoj.1_Silent_p.F257F	p.F445F	NM_007253	NP_009184	P98187	CP4F8_HUMAN			14	1399	+			445						Silent	SNP	ENST00000441682.2	37	c.1335C>T																																																																																					PASS	0.602	CYP4F8-201	KNOWN	basic	processed_transcript	processed_transcript		NM_007253		8	83	8	83	---	---	---	---
OR10H3	26532	broad.mit.edu	37	19	15853137	15853137	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr19:15853137G>T	ENST00000305892.1	+	1	935	c.935G>T	c.(934-936)tGc>tTc	p.C312F		NM_013938.1	NP_039226.1	O60404	O10H3_HUMAN	olfactory receptor, family 10, subfamily H, member 3	312						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C312F(1)		cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						AGAAGGTTCTGCCCTCTAAGC	0.423																																						uc010xoq.1																			1	Substitution - Missense(1)		lung(1)		0						c.(934-936)TGC>TTC		olfactory receptor, family 10, subfamily H,							68.0	72.0	71.0					19																	15853137		2203	4300	6503	SO:0001583	missense	26532				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15853137G>T		CCDS12334.1	19p13.1	2012-08-09				ENSG00000171936		"""GPCR / Class A : Olfactory receptors"""	8174	protein-coding gene	gene with protein product							Standard	NM_013938		Approved		uc010xoq.2	O60404		ENST00000305892.1:c.935G>T	19.37:g.15853137G>T	ENSP00000307130:p.Cys312Phe						p.C312F	NM_013938	NP_039226	O60404	O10H3_HUMAN			1	935	+			312			Cytoplasmic (Potential).		Q2HIZ3|Q6IFQ0	Missense_Mutation	SNP	ENST00000305892.1	37	c.935G>T	CCDS12334.1	.	.	.	.	.	.	.	.	.	.	.	0.016	-1.536071	0.00942	.	.	ENSG00000171936	ENST00000305892	T	0.37235	1.21	2.37	-3.8	0.04307	.	0.344301	0.20920	U	0.083285	T	0.10380	0.0254	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.20605	-1.0270	10	0.10111	T	0.7	.	0.6693	0.00856	0.1562:0.1991:0.2836:0.361	.	312	O60404	O10H3_HUMAN	F	312	ENSP00000307130:C312F	ENSP00000307130:C312F	C	+	2	0	OR10H3	15714137	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.831000	0.00355	-0.486000	0.06744	0.205000	0.17691	TGC		PASS	0.423	OR10H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460918.1			4	113	4	113	---	---	---	---
ZNF208	7757	broad.mit.edu	37	19	22156774	22156775	+	Missense_Mutation	DNP	TG	TG	AA	rs367546840	byFrequency	TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr19:22156774_22156775TG>AA	ENST00000397126.4	-	4	1209_1210	c.1061_1062CA>TT	c.(1060-1062)tCA>tTT	p.S354F	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	354					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.S354F(3)|p.S354L(3)|p.S354S(3)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TAGTAAGGATTGAGAACTTACT	0.401																																						uc002nqp.2																			9	Substitution - Missense(6)|Substitution - coding silent(3)		lung(9)	ovary(5)|skin(2)	7						c.(1060-1062)TCA>TCT|c.(1060-1062)TCA>TTA		zinc finger protein 208																																				SO:0001583	missense	7757							g.chr19:22156774T>A|g.chr19:22156775G>A	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.1061_1062delinsAA	19.37:g.22156774_22156775delinsAA	ENSP00000380315:p.Ser354Phe					ZNF208_uc002nqo.1_Intron|ZNF208_uc010ecw.1_5'Flank	p.S354S|p.S354L	NM_007153	NP_009084					4	1211|1210	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Silent|Missense_Mutation	SNP	ENST00000397126.4	37	c.1062A>T|c.1061C>T	CCDS54240.1																																																																																				PASS	0.401	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		6	55	6	55	---	---	---	---
ZNF99	7652	broad.mit.edu	37	19	22942420	22942420	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr19:22942420T>A	ENST00000596209.1	-	4	381	c.291A>T	c.(289-291)gaA>gaT	p.E97D	ZNF99_ENST00000397104.3_Missense_Mutation_p.E118D	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	97					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E118D(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TCAATATTATTTCTTGGAAAG	0.313																																						uc010xrh.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(352-354)GAA>GAT		zinc finger protein 99							71.0	65.0	67.0					19																	22942420		1822	4093	5915	SO:0001583	missense	7652							g.chr19:22942420T>A	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.291A>T	19.37:g.22942420T>A	ENSP00000472969:p.Glu97Asp						p.E118D	NM_001080409	NP_001073878					4	354	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.354A>T	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	N	3.752	-0.051397	0.07407	.	.	ENSG00000213973	ENST00000397104	T	0.06768	3.26	0.937	0.937	0.19494	.	.	.	.	.	T	0.06142	0.0159	L	0.42245	1.32	0.09310	N	1	B	0.33841	0.428	B	0.33521	0.165	T	0.39014	-0.9634	9	0.12430	T	0.62	.	4.0135	0.09632	0.0:0.0:0.0:1.0	.	118	A8MXY4	ZNF99_HUMAN	D	118	ENSP00000380293:E118D	ENSP00000380293:E118D	E	-	3	2	ZNF99	22734260	0.003000	0.15002	0.002000	0.10522	0.002000	0.02628	0.049000	0.14099	0.334000	0.23590	0.325000	0.21440	GAA		PASS	0.313	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		11	53	11	53	---	---	---	---
ZNF536	9745	broad.mit.edu	37	19	30936147	30936147	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr19:30936147G>T	ENST00000355537.3	+	2	1825	c.1678G>T	c.(1678-1680)Gat>Tat	p.D560Y		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	560					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)	p.D560Y(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GGTTCTGTTTGATAAGGAGAA	0.537																																						uc002nsu.1																			1	Substitution - Missense(1)		lung(1)	ovary(7)|large_intestine(2)|skin(2)	11						c.(1678-1680)GAT>TAT		zinc finger protein 536							83.0	89.0	87.0					19																	30936147		2203	4300	6503	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30936147G>T		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.1678G>T	19.37:g.30936147G>T	ENSP00000347730:p.Asp560Tyr					ZNF536_uc010edd.1_Missense_Mutation_p.D560Y	p.D560Y	NM_014717	NP_055532	O15090	ZN536_HUMAN			2	1816	+	Esophageal squamous(110;0.0834)		560					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.1678G>T	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	G	11.69	1.714773	0.30413	.	.	ENSG00000198597	ENST00000355537	T	0.44083	0.93	5.53	5.53	0.82687	.	0.225948	0.46442	D	0.000300	T	0.60971	0.2310	L	0.58810	1.83	0.42321	D	0.992254	D;D	0.71674	0.998;0.998	D;D	0.64042	0.921;0.921	T	0.59963	-0.7355	10	0.48119	T	0.1	-24.9243	19.4573	0.94900	0.0:0.0:1.0:0.0	.	560;560	A7E228;O15090	.;ZN536_HUMAN	Y	560	ENSP00000347730:D560Y	ENSP00000347730:D560Y	D	+	1	0	ZNF536	35627987	1.000000	0.71417	1.000000	0.80357	0.415000	0.31203	5.742000	0.68646	2.582000	0.87167	0.655000	0.94253	GAT		PASS	0.537	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		6	136	6	136	---	---	---	---
CEBPG	1054	broad.mit.edu	37	19	33870400	33870400	+	Silent	SNP	G	G	A			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr19:33870400G>A	ENST00000284000.4	+	2	917	c.255G>A	c.(253-255)caG>caA	p.Q85Q	CEBPG_ENST00000585933.2_Silent_p.Q85Q	NM_001806.3	NP_001797.1	P53567	CEBPG_HUMAN	CCAAT/enhancer binding protein (C/EBP), gamma	85	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				B cell differentiation (GO:0030183)|enucleate erythrocyte differentiation (GO:0043353)|immune response (GO:0006955)|liver development (GO:0001889)|mRNA metabolic process (GO:0016071)|natural killer cell mediated cytotoxicity (GO:0042267)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|positive regulation of DNA binding (GO:0043388)|positive regulation of DNA repair (GO:0045739)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.Q85Q(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	7	Esophageal squamous(110;0.137)					AAAGCAAGCAGAAAGCACAAG	0.453																																						uc002nup.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(253-255)CAG>CAA		CCAAT/enhancer binding protein gamma							91.0	81.0	84.0					19																	33870400		2203	4300	6503	SO:0001819	synonymous_variant	1054				B cell differentiation|enucleate erythrocyte differentiation|liver development|natural killer cell mediated cytotoxicity|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of DNA binding|positive regulation of DNA repair|positive regulation of interferon-gamma biosynthetic process|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	nucleus	protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr19:33870400G>A	U20240	CCDS12432.1	19q13.2	2013-01-10				ENSG00000153879		"""basic leucine zipper proteins"""	1837	protein-coding gene	gene with protein product		138972				1884998	Standard	NM_001806		Approved	GPE1BP, IG/EBP-1	uc021usd.1	P53567		ENST00000284000.4:c.255G>A	19.37:g.33870400G>A							p.Q85Q	NM_001806	NP_001797	P53567	CEBPG_HUMAN			2	544	+	Esophageal squamous(110;0.137)		85			Basic motif.		B2R946|Q5U052	Silent	SNP	ENST00000284000.4	37	c.255G>A	CCDS12432.1																																																																																				PASS	0.453	CEBPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451427.2	NM_001806		6	25	6	25	---	---	---	---
SIPA1L3	23094	broad.mit.edu	37	19	38610493	38610493	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr19:38610493G>C	ENST00000222345.6	+	9	3348	c.2839G>C	c.(2839-2841)Gac>Cac	p.D947H		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	947					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)	p.D947H(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TTCTGTGGAGGACATAAGGGA	0.532																																						uc002ohk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(2839-2841)GAC>CAC		signal-induced proliferation-associated 1 like							28.0	31.0	30.0					19																	38610493		2202	4298	6500	SO:0001583	missense	23094				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr19:38610493G>C	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.2839G>C	19.37:g.38610493G>C	ENSP00000222345:p.Asp947His						p.D947H	NM_015073	NP_055888	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		9	3348	+			947					Q2TV87	Missense_Mutation	SNP	ENST00000222345.6	37	c.2839G>C	CCDS33007.1	.	.	.	.	.	.	.	.	.	.	G	16.89	3.248338	0.59103	.	.	ENSG00000105738	ENST00000222345	D	0.81499	-1.5	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.87485	0.6189	M	0.74647	2.275	0.58432	D	0.999992	D	0.64830	0.994	P	0.61940	0.896	D	0.88440	0.3041	10	0.87932	D	0	-45.7609	12.5548	0.56246	0.0798:0.0:0.9202:0.0	.	947	O60292	SI1L3_HUMAN	H	947	ENSP00000222345:D947H	ENSP00000222345:D947H	D	+	1	0	SIPA1L3	43302333	1.000000	0.71417	1.000000	0.80357	0.243000	0.25628	8.029000	0.88807	2.665000	0.90641	0.655000	0.94253	GAC		PASS	0.532	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		8	44	8	44	---	---	---	---
CEACAM6	4680	broad.mit.edu	37	19	42265883	42265883	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr19:42265883C>G	ENST00000199764.6	+	4	928	c.710C>G	c.(709-711)cCa>cGa	p.P237R	AC011513.4_ENST00000601409.1_RNA	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)	237	Ig-like C2-type 2.				cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.P237R(1)		breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		CCAGATGGCCCAGATGGCCCC	0.557																																						uc002orm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(709-711)CCA>CGA		carcinoembryonic antigen-related cell adhesion							75.0	79.0	77.0					19																	42265883		2203	4300	6503	SO:0001583	missense	4680				cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane		g.chr19:42265883C>G	M29541	CCDS12585.1	19q13.1-q13.2	2013-01-29			ENSG00000086548	ENSG00000086548		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1818	protein-coding gene	gene with protein product		163980		NCA			Standard	NM_002483		Approved	CD66c	uc002orm.2	P40199	OTTHUMG00000151064	ENST00000199764.6:c.710C>G	19.37:g.42265883C>G	ENSP00000199764:p.Pro237Arg						p.P237R	NM_002483	NP_002474	P40199	CEAM6_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)	4	859	+			237			Ig-like C2-type 2.		Q13774|Q14920|Q53XP7	Missense_Mutation	SNP	ENST00000199764.6	37	c.710C>G	CCDS12585.1	.	.	.	.	.	.	.	.	.	.	C	12.98	2.100505	0.37048	.	.	ENSG00000086548	ENST00000199764	T	0.24538	1.85	1.87	1.87	0.25490	Immunoglobulin-like fold (1);	.	.	.	.	T	0.57504	0.2058	H	0.96547	3.84	0.22081	N	0.999377	D	0.61080	0.989	D	0.67725	0.953	T	0.45673	-0.9245	9	0.56958	D	0.05	.	7.1459	0.25583	0.0:1.0:0.0:0.0	.	237	P40199	CEAM6_HUMAN	R	237	ENSP00000199764:P237R	ENSP00000199764:P237R	P	+	2	0	CEACAM6	46957723	0.880000	0.30214	0.670000	0.29842	0.249000	0.25844	2.928000	0.48908	1.037000	0.40024	0.305000	0.20034	CCA		PASS	0.557	CEACAM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321147.1			4	136	4	136	---	---	---	---
PSG7	5676	broad.mit.edu	37	19	43430857	43430857	+	RNA	SNP	T	T	A			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr19:43430857T>A	ENST00000406070.2	-	0	817				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				ATGTAGGGCTTGGGCAGCTTC	0.468																																						uc002ovl.3																			0					0						c.(721-723)AAG>TAG		pregnancy specific beta-1-glycoprotein 7							254.0	249.0	251.0					19																	43430857		2201	4298	6499			5676				female pregnancy	extracellular region		g.chr19:43430857T>A			19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9524	protein-coding gene	gene with protein product		176396	"""pregnancy specific beta-1-glycoprotein 7"""				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43430857T>A						PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_RNA|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG7_uc010xwl.1_Nonsense_Mutation_p.K119*	p.K241*	NM_002783	NP_002774	Q13046	PSG7_HUMAN			5	823	-		Prostate(69;0.00682)	241			Ig-like C2-type 2.		Q15232	Nonsense_Mutation	SNP	ENST00000406070.2	37	c.721A>T																																																																																					PASS	0.468	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	NM_001206650		17	304	17	304	---	---	---	---
PSG2	5670	broad.mit.edu	37	19	43585314	43585314	+	Missense_Mutation	SNP	T	T	A	rs548199531	byFrequency	TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr19:43585314T>A	ENST00000406487.1	-	2	247	c.149A>T	c.(148-150)gAt>gTt	p.D50V	PSG2_ENST00000491995.1_5'Flank	NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	50	Ig-like V-type.				cell migration (GO:0016477)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.D50V(2)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				TAGAAGAACATCCTTCCCCTC	0.468																																						uc002ovi.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(148-150)GAT>GTT		SubName: Full=Putative uncharacterized protein PSG6;							139.0	139.0	139.0					19																	43585314		2203	4296	6499	SO:0001583	missense	5675				female pregnancy	extracellular region		g.chr19:43585314T>A		CCDS12616.1	19q13.1-q13.2	2013-01-29			ENSG00000242221	ENSG00000242221		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9519	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1 glycoprotein"", ""pregnancy-specific beta-1-glycoprotein 7"", ""carcinoembryonic antigen SG8"""	176391		PSBG2		2377620	Standard	NM_031246		Approved	PSGGB, PSG1, CEA	uc002ovr.3	P11465	OTTHUMG00000151547	ENST00000406487.1:c.149A>T	19.37:g.43585314T>A	ENSP00000385706:p.Asp50Val					PSG6_uc010xwk.1_Intron|PSG2_uc002ovr.2_Missense_Mutation_p.D50V|PSG2_uc002ovq.3_Missense_Mutation_p.D50V|PSG2_uc010eiq.1_Missense_Mutation_p.D50V|PSG2_uc002ovs.3_Missense_Mutation_p.D50V|PSG2_uc002ovt.3_Missense_Mutation_p.D50V	p.D50V			Q00889	PSG6_HUMAN			2	242	-		Prostate(69;0.00899)	50			Ig-like V-type.		Q8TCD9|Q9UEA4|Q9UQ78	Missense_Mutation	SNP	ENST00000406487.1	37	c.149A>T	CCDS12616.1	.	.	.	.	.	.	.	.	.	.	N	11.91	1.779743	0.31502	.	.	ENSG00000242221	ENST00000406487;ENST00000329509;ENST00000401942;ENST00000406917	T	0.65549	-0.16	0.569	0.569	0.17340	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.79627	0.4478	M	0.90814	3.15	0.25331	N	0.989034	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.66224	-0.5977	8	0.87932	D	0	.	.	.	.	.	50;50	B5MCM8;P11465	.;PSG2_HUMAN	V	50	ENSP00000385706:D50V	ENSP00000332984:D50V	D	-	2	0	PSG2	48277154	0.022000	0.18835	0.297000	0.24988	0.206000	0.24218	0.608000	0.24223	0.477000	0.27464	0.155000	0.16302	GAT		PASS	0.468	PSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323083.1	NM_031246		13	249	13	249	---	---	---	---
NANOS2	339345	broad.mit.edu	37	19	46417622	46417622	+	Silent	SNP	C	C	A			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr19:46417622C>A	ENST00000341294.2	-	1	414	c.330G>T	c.(328-330)acG>acT	p.T110T		NM_001029861.2	NP_001025032.1	P60321	NANO2_HUMAN	nanos homolog 2 (Drosophila)	110					germ-line stem cell maintenance (GO:0030718)|mRNA catabolic process (GO:0006402)|multicellular organismal development (GO:0007275)|negative regulation of meiosis (GO:0045835)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	mRNA binding (GO:0003729)|zinc ion binding (GO:0008270)	p.T110T(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)	6		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0668)|Epithelial(262;0.231)		AGTACTTGAGCGTATGGGCCT	0.657																																						uc002pdu.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(328-330)ACG>ACT		nanos homolog 2							58.0	53.0	55.0					19																	46417622		2203	4300	6503	SO:0001819	synonymous_variant	339345				germ-line stem cell maintenance|mRNA catabolic process|multicellular organismal development|negative regulation of meiosis|regulation of translation|spermatogenesis	cytoplasmic mRNA processing body|perinuclear region of cytoplasm	RNA binding|zinc ion binding	g.chr19:46417622C>A	BC042883	CCDS33056.1	19q13.32	2003-12-01				ENSG00000188425			23292	protein-coding gene	gene with protein product		608228				12947200, 12690449	Standard	NM_001029861		Approved	NOS2	uc002pdu.3	P60321		ENST00000341294.2:c.330G>T	19.37:g.46417622C>A							p.T110T	NM_001029861	NP_001025032	P60321	NANO2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0668)|Epithelial(262;0.231)	1	415	-		Ovarian(192;0.0308)|all_neural(266;0.0476)	110			Nanos-type.|C2HC 2.		Q17R30|Q4G0P8	Silent	SNP	ENST00000341294.2	37	c.330G>T	CCDS33056.1																																																																																				PASS	0.657	NANOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461685.1			6	41	6	41	---	---	---	---
SIGLEC14	100049587	broad.mit.edu	37	19	52147135	52147135	+	Silent	SNP	G	G	T			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr19:52147135G>T	ENST00000360844.6	-	5	950	c.909C>A	c.(907-909)acC>acA	p.T303T	SIGLEC5_ENST00000599649.1_Intron|SIGLEC5_ENST00000429354.3_Intron|SIGLEC5_ENST00000534261.2_Intron|SIGLEC5_ENST00000222107.4_Intron	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14	303	Ig-like C2-type 2.				cell adhesion (GO:0007155)|innate immune response (GO:0045087)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.T296T(1)|p.T303T(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		GCAGCTCCAGGGTCCCAGACA	0.592																																						uc002pxf.3																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(907-909)ACC>ACA		sialic acid binding Ig-like lectin 14 precursor							43.0	50.0	48.0					19																	52147135		1833	4026	5859	SO:0001819	synonymous_variant	100049587				cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding	g.chr19:52147135G>T	AY854038	CCDS42604.1	19q13.41	2013-01-29			ENSG00000254415	ENSG00000254415		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	32926	protein-coding gene	gene with protein product						17012248	Standard	NM_001098612		Approved		uc002pxf.4	Q08ET2	OTTHUMG00000165511	ENST00000360844.6:c.909C>A	19.37:g.52147135G>T							p.T303T	NM_001098612	NP_001092082	Q08ET2	SIG14_HUMAN		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)	5	1029	-		all_neural(266;0.0299)	303			Extracellular (Potential).|Ig-like C2-type 2.		Q6UXG0	Silent	SNP	ENST00000360844.6	37	c.909C>A	CCDS42604.1																																																																																				PASS	0.592	SIGLEC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466899.2	NM_001098612		15	58	15	58	---	---	---	---
HAS1	3036	broad.mit.edu	37	19	52220302	52220302	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr19:52220302G>T	ENST00000222115.1	-	3	881	c.847C>A	c.(847-849)Ctg>Atg	p.L283M	HAS1_ENST00000601714.1_Missense_Mutation_p.L290M|HAS1_ENST00000594621.1_Missense_Mutation_p.L137M|HAS1_ENST00000540069.2_Missense_Mutation_p.L282M	NM_001523.2	NP_001514.2	Q92839	HYAS1_HUMAN	hyaluronan synthase 1	283					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|negative regulation of fibroblast migration (GO:0010764)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)	p.L283M(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		CAGTATCGCAGGCTGCTTAGG	0.597																																					NSCLC(132;636 2450 45807 47979)	uc002pxo.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(847-849)CTG>ATG		hyaluronan synthase 1							113.0	107.0	109.0					19																	52220302		2203	4300	6503	SO:0001583	missense	3036				cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding	g.chr19:52220302G>T	U59269	CCDS12838.1, CCDS74436.1	19q13.3-q13.4	2013-02-22			ENSG00000105509	ENSG00000105509	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4818	protein-coding gene	gene with protein product		601463		HAS		9169154	Standard	XM_005258834		Approved		uc002pxo.1	Q92839		ENST00000222115.1:c.847C>A	19.37:g.52220302G>T	ENSP00000222115:p.Leu283Met					HAS1_uc010epc.1_Translation_Start_Site|HAS1_uc010epd.1_Missense_Mutation_p.L248M|HAS1_uc002pxn.1_Missense_Mutation_p.L290M|HAS1_uc002pxp.1_Missense_Mutation_p.L282M	p.L283M	NM_001523	NP_001514	Q92839	HAS1_HUMAN		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)	3	882	-		all_neural(266;0.0189)|Medulloblastoma(540;0.146)	283			Cytoplasmic (Potential).		Q14470|Q9NS49	Missense_Mutation	SNP	ENST00000222115.1	37	c.847C>A	CCDS12838.1	.	.	.	.	.	.	.	.	.	.	g	21.6	4.178167	0.78564	.	.	ENSG00000105509	ENST00000540069;ENST00000222115;ENST00000376737;ENST00000376738	T;T	0.52295	0.67;0.67	4.08	4.08	0.47627	.	0.000000	0.64402	U	0.000010	T	0.55721	0.1938	L	0.41492	1.28	0.58432	D	0.999995	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.77004	0.981;0.989;0.989	T	0.48198	-0.9056	10	0.15066	T	0.55	-40.9245	14.2156	0.65790	0.0:0.0:1.0:0.0	.	282;283;282	G3V1S7;Q92839;Q8IYH3	.;HAS1_HUMAN;.	M	282;283;140;137	ENSP00000445021:L282M;ENSP00000222115:L283M	ENSP00000222115:L283M	L	-	1	2	HAS1	56912114	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.354000	0.34056	2.014000	0.59158	0.489000	0.48404	CTG		PASS	0.597	HAS1-005	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466953.1	NM_001523		16	94	16	94	---	---	---	---
LILRA6	79168	broad.mit.edu	37	19	54744726	54744726	+	Silent	SNP	G	G	A			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr19:54744726G>A	ENST00000396365.2	-	5	975	c.936C>T	c.(934-936)ccC>ccT	p.P312P	LILRA6_ENST00000440558.2_Silent_p.P312P|LILRA6_ENST00000419410.2_Silent_p.P312P|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000245621.5_Silent_p.P312P|LILRA6_ENST00000391735.3_3'UTR|LILRB3_ENST00000407860.2_Intron	NM_024318.2	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6	312	Ig-like C2-type 1.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)		p.P312P(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGATGTTCAGGGGGTCGCTGG	0.682																																						uc002qeu.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(934-936)CCC>CCT		leukocyte immunoglobulin-like receptor,							24.0	35.0	31.0					19																	54744726		2181	4261	6442	SO:0001819	synonymous_variant	79168					integral to membrane	receptor activity	g.chr19:54744726G>A	AF041262	CCDS42610.1	19q13.4	2013-01-11	2005-05-17	2005-05-17	ENSG00000244482	ENSG00000244482		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15495	protein-coding gene	gene with protein product			"""leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 6"""	LILRB6		10941842	Standard	NM_024318		Approved	ILT8, CD85b		Q6PI73	OTTHUMG00000066635	ENST00000396365.2:c.936C>T	19.37:g.54744726G>A						LILRB3_uc002qeh.1_Intron|LILRB3_uc002qeg.1_Intron|LILRB3_uc002qei.1_Intron|LILRA6_uc002qek.1_Silent_p.P312P|LILRB3_uc010erh.1_Intron|LILRB3_uc002qej.1_Intron|LILRA6_uc002qel.1_Silent_p.P312P|LILRA6_uc002qem.1_RNA|LILRB3_uc002qen.1_RNA|LILRB3_uc002qeo.1_Silent_p.P312P|LILRB3_uc002qep.1_Intron|LILRB3_uc002qeq.1_Silent_p.P312P|LILRB3_uc002qer.1_RNA|LILRB3_uc002qes.1_Intron|LILRA6_uc010yep.1_Silent_p.P312P|LILRA6_uc010yeq.1_Silent_p.P312P|LILRA6_uc002qet.3_RNA|LILRA6_uc002qev.1_Silent_p.P173P	p.P312P	NM_024318	NP_077294	Q6PI73	LIRA6_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	5	1060	-	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		312			Extracellular (Potential).|Ig-like C2-type 1.			Silent	SNP	ENST00000396365.2	37	c.936C>T	CCDS42610.1																																																																																				PASS	0.682	LILRA6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313725.1	NM_024318		14	142	14	142	---	---	---	---
KIR3DL1	3811	broad.mit.edu	37	19	55354355	55354355	+	Intron	SNP	G	G	A			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr19:55354355G>A	ENST00000402254.2	+	6	1033				KIR2DS4_ENST00000339924.8_RNA			P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		TTCACCCACTGAACCAAGCTC	0.498																																						uc002qhm.1																			0					0						c.(697-699)GAA>AAA		killer cell immunoglobulin-like receptor, two							135.0	118.0	124.0					19																	55354355		1490	2626	4116	SO:0001627	intron_variant	3809					integral to plasma membrane	receptor activity	g.chr19:55354355G>A	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000402254.2:c.1000+17822G>A	19.37:g.55354355G>A						KIR2DS4_uc010yfk.1_RNA|KIR3DL1_uc002qhl.3_Intron|KIR2DS4_uc010esg.1_Intron|KIR2DS4_uc002qhn.1_Intron	p.E233K	NM_012314	NP_036446	P43632	KI2S4_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	6	743	+			233			Extracellular (Potential).		O43473|Q14946|Q16541	Missense_Mutation	SNP	ENST00000402254.2	37	c.697G>A																																																																																					PASS	0.498	KIR3DL1-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_013289		6	296	6	296	---	---	---	---
ZNF304	57343	broad.mit.edu	37	19	57868963	57868963	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr19:57868963C>A	ENST00000282286.5	+	3	1899	c.1726C>A	c.(1726-1728)Caa>Aaa	p.Q576K	ZNF304_ENST00000598744.1_Missense_Mutation_p.Q534K|ZNF304_ENST00000391705.3_Missense_Mutation_p.Q576K|ZNF304_ENST00000443917.2_Missense_Mutation_p.Q623K			Q9HCX3	ZN304_HUMAN	zinc finger protein 304	576					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q576K(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		CCACCTTGTTCAACACAAGAA	0.483																																						uc010ygw.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1726-1728)CAA>AAA		zinc finger protein 304							81.0	69.0	73.0					19																	57868963		2203	4300	6503	SO:0001583	missense	57343				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57868963C>A	AJ276316	CCDS12950.1, CCDS74462.1	19q13.4	2013-01-08				ENSG00000131845		"""Zinc fingers, C2H2-type"", ""-"""	13505	protein-coding gene	gene with protein product		613840					Standard	XM_005259090		Approved		uc010ygw.2	Q9HCX3		ENST00000282286.5:c.1726C>A	19.37:g.57868963C>A	ENSP00000282286:p.Gln576Lys					ZNF304_uc010etw.2_Missense_Mutation_p.Q623K|ZNF304_uc010etx.2_Missense_Mutation_p.Q534K	p.Q576K	NM_020657	NP_065708	Q9HCX3	ZN304_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)	3	2114	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	576			C2H2-type 14.			Missense_Mutation	SNP	ENST00000282286.5	37	c.1726C>A	CCDS12950.1	.	.	.	.	.	.	.	.	.	.	C	1.261	-0.615831	0.03663	.	.	ENSG00000131845	ENST00000282286;ENST00000391705;ENST00000443917	T;T;T	0.15017	2.46;2.46;2.46	3.67	2.59	0.31030	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06781	0.0173	N	0.05230	-0.09	0.09310	N	1	B;B	0.21452	0.018;0.056	B;B	0.27170	0.077;0.014	T	0.41520	-0.9504	9	0.05620	T	0.96	.	6.3819	0.21540	0.3656:0.4561:0.1783:0.0	.	576;623	Q9HCX3;E7EQD3	ZN304_HUMAN;.	K	576;576;623	ENSP00000282286:Q576K;ENSP00000375586:Q576K;ENSP00000401642:Q623K	ENSP00000282286:Q576K	Q	+	1	0	ZNF304	62560775	0.000000	0.05858	0.033000	0.17914	0.893000	0.52053	-1.051000	0.03507	1.076000	0.40961	0.650000	0.86243	CAA		PASS	0.483	ZNF304-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465785.1			3	53	3	53	---	---	---	---
PLCB1	23236	broad.mit.edu	37	20	8628584	8628584	+	Missense_Mutation	SNP	C	C	T	rs142186851		TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr20:8628584C>T	ENST00000338037.6	+	6	529	c.502C>T	c.(502-504)Cgt>Tgt	p.R168C	PLCB1_ENST00000378637.2_Missense_Mutation_p.R168C|PLCB1_ENST00000378641.3_Missense_Mutation_p.R168C	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	168					activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)	p.R168C(2)		NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TCCAGAAGGGCGTATTCCTCT	0.348																																						uc002wnb.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12						c.(502-504)CGT>TGT		phosphoinositide-specific phospholipase C beta 1		C	CYS/ARG,CYS/ARG	0,4406		0,0,2203	92.0	89.0	90.0		502,502	4.9	1.0	20	dbSNP_134	90	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PLCB1	NM_015192.2,NM_182734.1	180,180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	168/1217,168/1174	8628584	1,13005	2203	4300	6503	SO:0001583	missense	23236				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	g.chr20:8628584C>T	AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.502C>T	20.37:g.8628584C>T	ENSP00000338185:p.Arg168Cys					PLCB1_uc010zrb.1_Missense_Mutation_p.R67C|PLCB1_uc010gbv.1_Missense_Mutation_p.R168C|PLCB1_uc002wmz.1_Missense_Mutation_p.R168C|PLCB1_uc002wna.2_Missense_Mutation_p.R168C|PLCB1_uc002wnc.1_Missense_Mutation_p.R67C	p.R168C	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN			6	505	+			168					D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	ENST00000338037.6	37	c.502C>T	CCDS13102.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.398162	0.83120	0.0	1.16E-4	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000404098;ENST00000441163;ENST00000535719	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	5.89	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.66307	0.2776	M	0.63428	1.95	0.80722	D	1	P;P;D;D	0.89917	0.908;0.792;0.982;1.0	B;B;B;D	0.87578	0.223;0.097;0.44;0.998	T	0.68364	-0.5428	10	0.87932	D	0	.	16.0838	0.81023	0.1346:0.8654:0.0:0.0	.	67;168;168;167	B4DRC6;Q9NQ66;Q9NQ66-2;B1AK73	.;PLCB1_HUMAN;.;.	C	168;168;168;167;88;88	ENSP00000367908:R168C;ENSP00000338185:R168C;ENSP00000367904:R168C;ENSP00000384001:R167C	ENSP00000338185:R168C	R	+	1	0	PLCB1	8576584	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.986000	0.56937	2.793000	0.96121	0.561000	0.74099	CGT		PASS	0.348	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3			4	116	4	116	---	---	---	---
PTPRT	11122	broad.mit.edu	37	20	41306584	41306584	+	Nonsense_Mutation	SNP	G	G	A			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr20:41306584G>A	ENST00000373187.1	-	7	1074	c.1075C>T	c.(1075-1077)Cga>Tga	p.R359*	PTPRT_ENST00000373198.4_Nonsense_Mutation_p.R359*|PTPRT_ENST00000356100.2_Nonsense_Mutation_p.R359*|PTPRT_ENST00000373193.3_Nonsense_Mutation_p.R359*|PTPRT_ENST00000373201.1_Nonsense_Mutation_p.R359*|PTPRT_ENST00000373190.1_Nonsense_Mutation_p.R359*|PTPRT_ENST00000373184.1_Nonsense_Mutation_p.R359*			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	359	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)	p.R359*(2)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				AGGAGCACTCGGATCTCATAC	0.567																																						uc002xkg.2																			2	Substitution - Nonsense(2)		large_intestine(1)|lung(1)	skin(8)|ovary(7)|lung(5)	20						c.(1075-1077)CGA>TGA		protein tyrosine phosphatase, receptor type, T							117.0	117.0	117.0					20																	41306584		1966	4169	6135	SO:0001587	stop_gained	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:41306584G>A	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.1075C>T	20.37:g.41306584G>A	ENSP00000362283:p.Arg359*					PTPRT_uc010ggj.2_Nonsense_Mutation_p.R359*	p.R359*	NM_007050	NP_008981	O14522	PTPRT_HUMAN			7	1259	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	359			Extracellular (Potential).|Fibronectin type-III 1.		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Nonsense_Mutation	SNP	ENST00000373187.1	37	c.1075C>T	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	G	40	8.324907	0.98759	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	.	.	.	5.42	5.42	0.78866	.	0.066160	0.64402	D	0.000019	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	.	14.1077	0.65101	0.0:0.0:0.8122:0.1878	.	.	.	.	X	359	.	ENSP00000348408:R359X	R	-	1	2	PTPRT	40739998	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	3.162000	0.50755	2.705000	0.92388	0.655000	0.94253	CGA		PASS	0.567	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			18	104	18	104	---	---	---	---
SCAF4	57466	broad.mit.edu	37	21	33067159	33067159	+	Silent	SNP	T	T	C			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr21:33067159T>C	ENST00000286835.7	-	10	1585	c.1203A>G	c.(1201-1203)caA>caG	p.Q401Q	SCAF4_ENST00000434667.3_Silent_p.Q386Q|SCAF4_ENST00000399804.1_Silent_p.Q401Q	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	401						nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.Q401Q(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						GTGGTTCATTTTGTGCCTGAA	0.433																																						uc002ypd.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1201-1203)CAA>CAG		splicing factor, arginine/serine-rich 15 isoform							105.0	100.0	102.0					21																	33067159		2203	4300	6503	SO:0001819	synonymous_variant	57466					nucleus	nucleotide binding|RNA binding	g.chr21:33067159T>C	AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"""RNA binding motif (RRM) containing"""	19304	protein-coding gene	gene with protein product			"""splicing factor, arginine/serine-rich 15"""	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.1203A>G	21.37:g.33067159T>C						SFRS15_uc002ype.2_Silent_p.Q401Q|SFRS15_uc010glu.2_Silent_p.Q386Q|SFRS15_uc002ypf.1_Silent_p.Q75Q	p.Q401Q	NM_020706	NP_065757	O95104	SFR15_HUMAN			10	1629	-			401					C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Silent	SNP	ENST00000286835.7	37	c.1203A>G	CCDS33537.1																																																																																				PASS	0.433	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000192659.1	XM_047889		11	56	11	56	---	---	---	---
DYRK1A	1859	broad.mit.edu	37	21	38862490	38862490	+	Silent	SNP	C	C	G			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr21:38862490C>G	ENST00000398960.2	+	6	753	c.678C>G	c.(676-678)cgC>cgG	p.R226R	DYRK1A_ENST00000321219.8_Silent_p.R226R|DYRK1A_ENST00000339659.4_Silent_p.R217R|DYRK1A_ENST00000398956.2_Silent_p.R226R|DYRK1A_ENST00000338785.3_Silent_p.R226R|DYRK1A_ENST00000455387.2_5'UTR|DYRK1A_ENST00000451934.1_Silent_p.R226R	NM_001396.3|NM_130438.2	NP_001387.2|NP_569122.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	226	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				circadian rhythm (GO:0007623)|mitotic cell cycle (GO:0000278)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|nervous system development (GO:0007399)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of protein deacetylation (GO:0090312)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|tau protein binding (GO:0048156)	p.R226R(1)		breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						ATTTGAAACGCCACTTTATGT	0.348																																					Melanoma(114;464 1602 31203 43785 45765)	uc002ywk.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(1)|breast(1)	4						c.(676-678)CGC>CGG		dual-specificity tyrosine-(Y)-phosphorylation							54.0	58.0	57.0					21																	38862490		2203	4299	6502	SO:0001819	synonymous_variant	1859				nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity	g.chr21:38862490C>G	U52373	CCDS13653.1, CCDS13654.1, CCDS42925.1, CCDS42926.1	21q22.13	2010-04-21			ENSG00000157540	ENSG00000157540			3091	protein-coding gene	gene with protein product		600855		DYRK1, DYRK, MNBH		9284911	Standard	NM_130436		Approved		uc002ywk.3	Q13627	OTTHUMG00000086657	ENST00000398960.2:c.678C>G	21.37:g.38862490C>G						DYRK1A_uc002ywi.2_Silent_p.R226R|DYRK1A_uc002ywj.2_Silent_p.R217R|DYRK1A_uc002ywl.2_Silent_p.R226R|DYRK1A_uc002ywm.2_Silent_p.R226R|DYRK1A_uc011aei.1_5'UTR	p.R226R	NM_001396	NP_001387	Q13627	DYR1A_HUMAN			6	753	+			226			Protein kinase.		O60769|Q92582|Q92810|Q9UNM5	Silent	SNP	ENST00000398960.2	37	c.678C>G	CCDS42925.1																																																																																				PASS	0.348	DYRK1A-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194804.1	NM_001396		3	79	3	79	---	---	---	---
PCNT	5116	broad.mit.edu	37	21	47822383	47822383	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr21:47822383A>T	ENST00000359568.5	+	27	5208	c.5101A>T	c.(5101-5103)Aac>Tac	p.N1701Y	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1701					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)		p.N1701Y(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					TGAGGAAGAGAACACGAGCTT	0.493																																						uc002zji.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(2)|pancreas(2)	8						c.(5101-5103)AAC>TAC		pericentrin							92.0	89.0	90.0					21																	47822383		2203	4300	6503	SO:0001583	missense	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47822383A>T	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.5101A>T	21.37:g.47822383A>T	ENSP00000352572:p.Asn1701Tyr					PCNT_uc002zjj.2_Missense_Mutation_p.N1583Y	p.N1701Y	NM_006031	NP_006022	O95613	PCNT_HUMAN			27	5208	+	Breast(49;0.112)		1701			Potential.		O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	c.5101A>T	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	A	9.910	1.209355	0.22205	.	.	ENSG00000160299	ENST00000359568	T	0.01902	4.57	4.63	4.63	0.57726	.	.	.	.	.	T	0.06826	0.0174	L	0.61218	1.895	0.20307	N	0.999912	P;P	0.43231	0.801;0.7	P;P	0.54100	0.742;0.557	T	0.21999	-1.0229	9	0.49607	T	0.09	.	6.9416	0.24496	0.8958:0.0:0.1042:0.0	.	1583;1701	O95613-2;O95613	.;PCNT_HUMAN	Y	1701	ENSP00000352572:N1701Y	ENSP00000352572:N1701Y	N	+	1	0	PCNT	46646811	0.989000	0.36119	0.563000	0.28383	0.006000	0.05464	2.962000	0.49176	1.721000	0.51461	0.460000	0.39030	AAC		PASS	0.493	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		6	65	6	65	---	---	---	---
PIWIL3	440822	broad.mit.edu	37	22	25115789	25115789	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr22:25115789C>T	ENST00000332271.5	-	20	2874	c.2458G>A	c.(2458-2460)Gac>Aac	p.D820N	PIWIL3_ENST00000527701.1_Missense_Mutation_p.D702N|PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000533313.1_Missense_Mutation_p.D702N	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	820	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				cell differentiation (GO:0030154)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)	p.D820N(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CCAATCGTGTCATAGATGACG	0.378																																						uc003abd.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(2458-2460)GAC>AAC		piwi-like 3							99.0	95.0	96.0					22																	25115789		2203	4300	6503	SO:0001583	missense	440822				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding	g.chr22:25115789C>T	AB079368	CCDS33623.1	22q11.23	2013-02-15	2013-02-15		ENSG00000184571	ENSG00000184571		"""Argonaute/PIWI family"""	18443	protein-coding gene	gene with protein product		610314	"""piwi-like 3 (Drosophila)"""			12906857	Standard	NM_001008496		Approved	HIWI3	uc003abd.2	Q7Z3Z3	OTTHUMG00000150788	ENST00000332271.5:c.2458G>A	22.37:g.25115789C>T	ENSP00000330031:p.Asp820Asn					PIWIL3_uc011ajx.1_Missense_Mutation_p.D702N|PIWIL3_uc011ajy.1_Missense_Mutation_p.D702N|PIWIL3_uc010gut.1_Missense_Mutation_p.D811N	p.D820N	NM_001008496	NP_001008496	Q7Z3Z3	PIWL3_HUMAN			20	2875	-			820			Piwi.			Missense_Mutation	SNP	ENST00000332271.5	37	c.2458G>A	CCDS33623.1	.	.	.	.	.	.	.	.	.	.	C	12.86	2.065819	0.36470	.	.	ENSG00000184571	ENST00000332271;ENST00000533313;ENST00000527701	T;T;T	0.38722	1.12;1.12;1.12	2.81	1.78	0.24846	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.57198	0.2037	M	0.69823	2.125	0.52099	D	0.99994	D;D;D	0.89917	1.0;0.988;1.0	D;D;D	0.97110	1.0;0.968;1.0	T	0.55835	-0.8078	10	0.51188	T	0.08	-22.423	7.9749	0.30149	0.0:0.8699:0.0:0.1301	.	702;811;820	E9PIP6;B4DYF7;Q7Z3Z3	.;.;PIWL3_HUMAN	N	820;702;702	ENSP00000330031:D820N;ENSP00000431843:D702N;ENSP00000435718:D702N	ENSP00000330031:D820N	D	-	1	0	PIWIL3	23445789	1.000000	0.71417	0.040000	0.18447	0.033000	0.12548	6.130000	0.71663	0.755000	0.32990	-0.258000	0.10820	GAC		PASS	0.378	PIWIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320084.2	NM_001008496		8	63	8	63	---	---	---	---
ISX	91464	broad.mit.edu	37	22	35478545	35478545	+	Silent	SNP	C	C	T			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr22:35478545C>T	ENST00000308700.6	+	2	1216	c.264C>T	c.(262-264)acC>acT	p.T88T	ISX_ENST00000404699.2_Silent_p.T88T	NM_001008494.1	NP_001008494.1	Q2M1V0	ISX_HUMAN	intestine-specific homeobox	88					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of vitamin A metabolic process (GO:1901738)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.T88T(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4)	26						TTCGTACCACCTTCACCACTG	0.562																																						uc003anj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(2)	5						c.(262-264)ACC>ACT		intestine-specific homeobox							155.0	123.0	134.0					22																	35478545		2203	4300	6503	SO:0001819	synonymous_variant	91464					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:35478545C>T	AK025181	CCDS33640.1	22q12.3	2011-06-20			ENSG00000175329	ENSG00000175329		"""Homeoboxes / PRD class"""	28084	protein-coding gene	gene with protein product		612019					Standard	NM_001008494		Approved	RAXLX	uc003anj.3	Q2M1V0	OTTHUMG00000150962	ENST00000308700.6:c.264C>T	22.37:g.35478545C>T						ISX_uc011amg.1_Silent_p.T76T	p.T88T	NM_001008494	NP_001008494	Q2M1V0	ISX_HUMAN			2	1215	+			88			Homeobox.		Q68DJ5	Silent	SNP	ENST00000308700.6	37	c.264C>T	CCDS33640.1																																																																																				PASS	0.562	ISX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320662.1	NM_001008494		12	102	12	102	---	---	---	---
CACNA1I	8911	broad.mit.edu	37	22	39994197	39994197	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr22:39994197G>T	ENST00000402142.3	+	2	278	c.278G>T	c.(277-279)tGc>tTc	p.C93F	CACNA1I_ENST00000401624.1_Missense_Mutation_p.C93F|CACNA1I_ENST00000336649.4_Missense_Mutation_p.C93F|CACNA1I_ENST00000400164.3_Missense_Mutation_p.C93F|CACNA1I_ENST00000407673.1_Missense_Mutation_p.C93F|CACNA1I_ENST00000404898.1_Missense_Mutation_p.C93F	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	93					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.C93F(2)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	CTGCTGAACTGCGTGACACTT	0.647																																						uc003ayc.2																			2	Substitution - Missense(2)		lung(2)	breast(1)|central_nervous_system(1)	2						c.(277-279)TGC>TTC		calcium channel, voltage-dependent, T type,	Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)						80.0	86.0	84.0					22																	39994197		2169	4255	6424	SO:0001583	missense	8911				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	g.chr22:39994197G>T	AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.278G>T	22.37:g.39994197G>T	ENSP00000385019:p.Cys93Phe					CACNA1I_uc003ayd.2_Missense_Mutation_p.C93F|CACNA1I_uc003aye.2_Missense_Mutation_p.C8F|CACNA1I_uc003ayf.2_Missense_Mutation_p.C8F	p.C93F	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN			2	278	+	Melanoma(58;0.0749)		93			Helical; Name=S1 of repeat I; (Potential).|I.		B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Missense_Mutation	SNP	ENST00000402142.3	37	c.278G>T	CCDS46710.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.289102	0.80914	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.97480	-4.4;-4.4;-4.4;-4.4;-4.4;-4.4	4.03	4.03	0.46877	.	0.184629	0.48286	D	0.000199	D	0.98213	0.9409	M	0.78049	2.395	0.80722	D	1	P;B;P;D	0.76494	0.651;0.229;0.944;0.999	B;B;B;D	0.80764	0.299;0.436;0.413;0.994	D	0.99410	1.0930	10	0.87932	D	0	.	16.4377	0.83882	0.0:0.0:1.0:0.0	.	93;93;93;93	Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4	.;.;.;CAC1I_HUMAN	F	93	ENSP00000385019:C93F;ENSP00000384093:C93F;ENSP00000383887:C93F;ENSP00000385680:C93F;ENSP00000337829:C93F;ENSP00000383028:C93F	ENSP00000337829:C93F	C	+	2	0	CACNA1I	38324143	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.530000	0.98051	2.095000	0.63458	0.549000	0.68633	TGC		PASS	0.647	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	NM_001003406		3	16	3	16	---	---	---	---
IL17REL	400935	broad.mit.edu	37	22	50438983	50438983	+	Silent	SNP	G	G	T			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr22:50438983G>T	ENST00000389983.2	-	6	522	c.258C>A	c.(256-258)gcC>gcA	p.A86A	IL17REL_ENST00000341280.5_Silent_p.A86A	NM_001001694.2	NP_001001694.2	Q6ZVW7	I17EL_HUMAN	interleukin 17 receptor E-like	86								p.A86A(1)		endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		AGAGGTGCTGGGCCACGCTCA	0.652																																						uc003bje.1																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(256-258)GCC>GCA		interleukin 17 receptor E-like							77.0	72.0	74.0					22																	50438983		2203	4300	6503	SO:0001819	synonymous_variant	400935							g.chr22:50438983G>T	AK123987	CCDS33679.1	22q13.33	2009-01-13			ENSG00000188263	ENSG00000188263			33808	protein-coding gene	gene with protein product		613414					Standard	NM_001001694		Approved	FLJ41993	uc003bje.1	Q6ZVW7	OTTHUMG00000150242	ENST00000389983.2:c.258C>A	22.37:g.50438983G>T							p.A86A	NM_001001694	NP_001001694	Q6ZVW7	I17EL_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)	6	490	-		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)	86					A6NCN4|A6PVC1	Silent	SNP	ENST00000389983.2	37	c.258C>A	CCDS33679.1																																																																																				PASS	0.652	IL17REL-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317011.1	NM_001001694		19	92	19	92	---	---	---	---
MAPK11	5600	broad.mit.edu	37	22	50704662	50704662	+	Nonsense_Mutation	SNP	G	G	C	rs570272844		TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr22:50704662G>C	ENST00000330651.6	-	9	855	c.755C>G	c.(754-756)tCa>tGa	p.S252*	MAPK11_ENST00000449719.2_3'UTR|MAPK11_ENST00000495277.1_5'Flank	NM_002751.5	NP_002742.3	Q15759	MK11_HUMAN	mitogen-activated protein kinase 11	252	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|gene expression (GO:0010467)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mRNA metabolic process (GO:0016071)|muscle cell differentiation (GO:0042692)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of muscle cell differentiation (GO:0051149)|Ras protein signal transduction (GO:0007265)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674)	p.S252W(1)		breast(1)|central_nervous_system(1)|lung(4)	6		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Regorafenib(DB08896)	CACGTGTTCTGAGGAGATTTT	0.607																																					GBM(9;634 739 50668)	uc003bkr.2																			1	Substitution - Missense(1)		lung(1)	lung(1)|breast(1)	2						c.(754-756)TCA>TGA		mitogen-activated protein kinase 11							65.0	54.0	58.0					22																	50704662		2188	4293	6481	SO:0001587	stop_gained	5600				activation of MAPK activity|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding	g.chr22:50704662G>C	Y14440	CCDS14090.1	22q13.33	2011-06-09			ENSG00000185386	ENSG00000185386	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6873	protein-coding gene	gene with protein product		602898		PRKM11		9218798	Standard	NM_002751		Approved	p38-2, p38Beta, SAPK2	uc003bkr.3	Q15759	OTTHUMG00000150226	ENST00000330651.6:c.755C>G	22.37:g.50704662G>C	ENSP00000333685:p.Ser252*					MAPK11_uc010hax.2_Nonsense_Mutation_p.S74*|MAPK11_uc011ars.1_RNA|MAPK11_uc010hay.1_RNA|MAPK11_uc011art.1_3'UTR|MAPK11_uc010haz.2_3'UTR	p.S252*	NM_002751	NP_002742	Q15759	MK11_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	9	813	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	252			Protein kinase.		A8K730|B0LPG1|B7Z630|E7ETQ1|L7RT27|O00284|O15472|Q2XNF2	Nonsense_Mutation	SNP	ENST00000330651.6	37	c.755C>G	CCDS14090.1	.	.	.	.	.	.	.	.	.	.	g	21.7	4.182858	0.78677	.	.	ENSG00000185386	ENST00000330651	.	.	.	4.22	4.22	0.49857	.	0.000000	0.64402	U	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	12.1123	0.53846	0.0:0.0:1.0:0.0	.	.	.	.	X	252	.	ENSP00000333685:S252X	S	-	2	0	MAPK11	49046789	0.999000	0.42202	0.997000	0.53966	0.559000	0.35586	4.783000	0.62403	1.926000	0.55796	0.479000	0.44913	TCA		PASS	0.607	MAPK11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316900.1			4	11	4	11	---	---	---	---
ARSA	410	broad.mit.edu	37	22	51065062	51065062	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr22:51065062C>G	ENST00000547307.1	-	4	1210	c.805G>C	c.(805-807)Ggg>Cgg	p.G269R	ARSA_ENST00000395621.3_Missense_Mutation_p.G271R|ARSA_ENST00000453344.2_Missense_Mutation_p.G185R|ARSA_ENST00000216124.5_Missense_Mutation_p.G271R|ARSA_ENST00000547805.1_Missense_Mutation_p.G269R|ARSA_ENST00000356098.5_Missense_Mutation_p.G271R|ARSA_ENST00000395619.3_Missense_Mutation_p.G271R			P15289	ARSA_HUMAN	arylsulfatase A	269					autophagy (GO:0006914)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to methylmercury (GO:0051597)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum lumen (GO:0005788)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|cerebroside-sulfatase activity (GO:0004098)|sulfuric ester hydrolase activity (GO:0008484)	p.G269R(1)		endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1)	9		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Micafungin(DB01141)|Suramin(DB04786)	TCAAGCAGCCCCAGGTCCCCT	0.642																																						uc003bnb.3																			1	Substitution - Missense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(805-807)GGG>CGG		arylsulfatase A isoform a precursor	Micafungin(DB01141)						46.0	44.0	45.0					22																	51065062		2203	4300	6503	SO:0001583	missense	410					lysosome	arylsulfatase activity|calcium ion binding|cerebroside-sulfatase activity	g.chr22:51065062C>G	X52150	CCDS14100.1, CCDS46736.1, CCDS14100.2	22q13.33	2013-09-19			ENSG00000100299	ENSG00000100299	3.1.6.8	"""Arylsulfatase family"""	713	protein-coding gene	gene with protein product	"""metachromatic leucodystrophy"""	607574				15772092	Standard	NM_000487		Approved		uc003bmz.5	P15289	OTTHUMG00000150180	ENST00000547307.1:c.805G>C	22.37:g.51065062C>G	ENSP00000448440:p.Gly269Arg					ARSA_uc003bna.3_Missense_Mutation_p.G185R|ARSA_uc003bnc.3_Missense_Mutation_p.G269R|ARSA_uc003bnd.3_Missense_Mutation_p.G269R|ARSA_uc003bmz.3_Missense_Mutation_p.G269R|ARSA_uc010hbf.2_3'UTR	p.G269R	NM_001085426	NP_001078895	P15289	ARSA_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	5	1058	-		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	269					B2RCA6|B7XD04|F8WCC8|Q6ICI5|Q96CJ0	Missense_Mutation	SNP	ENST00000547307.1	37	c.805G>C		.	.	.	.	.	.	.	.	.	.	C	23.8	4.459651	0.84317	.	.	ENSG00000100299	ENST00000356098;ENST00000216124;ENST00000547307;ENST00000547805;ENST00000395621;ENST00000453344;ENST00000395619	D;D;D;D;D;D;D	0.97791	-4.54;-4.54;-4.54;-4.54;-4.54;-4.54;-4.54	5.25	5.25	0.73442	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.98732	0.9574	M	0.86864	2.845	0.80722	D	1	D	0.71674	0.998	D	0.68353	0.957	D	0.99605	1.0979	10	0.66056	D	0.02	.	16.3401	0.83079	0.0:1.0:0.0:0.0	.	269	P15289	ARSA_HUMAN	R	271;271;269;269;271;185;271	ENSP00000348406:G271R;ENSP00000216124:G271R;ENSP00000448440:G269R;ENSP00000448932:G269R;ENSP00000378983:G271R;ENSP00000412542:G185R;ENSP00000378981:G271R	ENSP00000216124:G271R	G	-	1	0	ARSA	49411928	0.999000	0.42202	0.996000	0.52242	0.769000	0.43574	4.568000	0.60857	2.469000	0.83416	0.407000	0.27541	GGG		PASS	0.642	ARSA-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_000487		4	44	4	44	---	---	---	---
SHANK3	85358	broad.mit.edu	37	22	51117757	51117757	+	Silent	SNP	C	C	T	rs374349808		TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr22:51117757C>T	ENST00000414786.2	+	7	1013	c.786C>T	c.(784-786)caC>caT	p.H262H	SHANK3_ENST00000445220.2_Silent_p.H262H|SHANK3_ENST00000262795.3_Silent_p.H262H			Q9BYB0	SHAN3_HUMAN	SH3 and multiple ankyrin repeat domains 3	262					adult behavior (GO:0030534)|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|brain morphogenesis (GO:0048854)|dendritic spine morphogenesis (GO:0060997)|guanylate kinase-associated protein clustering (GO:0097117)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell volume (GO:0045794)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glutamate receptor signaling pathway (GO:1900451)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse structural plasticity (GO:0051835)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density assembly (GO:0097107)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of long term synaptic depression (GO:1900452)|regulation of long-term synaptic potentiation (GO:1900271)|social behavior (GO:0035176)|striatal medium spiny neuron differentiation (GO:0021773)|synapse assembly (GO:0007416)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)	p.H262H(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		GCTTTGGGCACGTGCAGCATC	0.652																																						uc003bne.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(784-786)CAC>CAT		SH3 and multiple ankyrin repeat domains 3		C		0,4344		0,0,2172	33.0	41.0	38.0		786	-8.5	0.7	22		38	2,8538		0,2,4268	no	coding-synonymous	SHANK3	NM_001080420.1		0,2,6440	TT,TC,CC		0.0234,0.0,0.0155		262/1748	51117757	2,12882	2172	4270	6442	SO:0001819	synonymous_variant	85358							g.chr22:51117757C>T	AB051437		22q13.3	2013-11-14			ENSG00000251322	ENSG00000251322		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14294	protein-coding gene	gene with protein product	"""proline rich synapse associated protein 2"", ""shank postsynaptic density protein"""	606230				11258795, 11431708, 10806096, 17173049	Standard	NM_033517		Approved	SPANK-2, prosap2, KIAA1650, PSAP2	uc031ryd.1	Q9BYB0	OTTHUMG00000150169	ENST00000414786.2:c.786C>T	22.37:g.51117757C>T							p.H262H	NM_001080420	NP_001073889	F2Z3L0	F2Z3L0_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.22)	7	786	+		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)	262					D7UT47|Q8TET3	Silent	SNP	ENST00000414786.2	37	c.786C>T																																																																																					PASS	0.652	SHANK3-001	KNOWN	non_canonical_polymorphism|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000316674.2	NM_001080420		12	35	12	35	---	---	---	---
CSF2RA	1438	broad.mit.edu	37	X	1409284	1409284	+	Silent	SNP	G	G	A			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chrX:1409284G>A	ENST00000381524.3	+	7	714	c.528G>A	c.(526-528)gtG>gtA	p.V176V	BX649553.4_ENST00000580687.1_RNA|CSF2RA_ENST00000501036.2_Silent_p.V43V|CSF2RA_ENST00000355432.3_Silent_p.V176V|CSF2RA_ENST00000381509.3_Silent_p.V176V|CSF2RA_ENST00000381500.1_Silent_p.V176V|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000417535.2_Silent_p.V176V|CSF2RA_ENST00000432318.2_Silent_p.V176V|CSF2RA_ENST00000361536.3_Silent_p.V176V|BX649553.3_ENST00000581137.1_RNA|CSF2RA_ENST00000381529.3_Silent_p.V176V|CSF2RA_ENST00000355805.2_Silent_p.V176V			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	176					response to ethanol (GO:0045471)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)	p.V176V(3)		central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	GAACCCATGTGGGATGTCACC	0.433																																					Esophageal Squamous(131;723 1707 25334 40494 41806)	uc010nct.2																			3	Substitution - coding silent(3)		lung(3)	ovary(2)	2						c.(526-528)GTG>GTA		colony stimulating factor 2 receptor alpha chain	Sargramostim(DB00020)						304.0	293.0	297.0					X																	1409284		2203	4296	6499	SO:0001819	synonymous_variant	1438					extracellular region|integral to plasma membrane	cytokine receptor activity	g.chrX:1409284G>A	M64445	CCDS35190.1, CCDS35191.1, CCDS35192.1, CCDS35193.1, CCDS55359.1, CCDS55360.1, CCDS55361.1	Xp22.32 and Yp11.3	2014-09-17			ENSG00000198223	ENSG00000198223		"""CD molecules"", ""Pseudoautosomal regions / PAR1"""	2435	protein-coding gene	gene with protein product		306250, 425000		CSF2R		1702217	Standard	NM_006140		Approved	CD116	uc010ncv.2	P15509	OTTHUMG00000012533	ENST00000381524.3:c.528G>A	X.37:g.1409284G>A						CSF2RA_uc011mhb.1_Silent_p.V176V|CSF2RA_uc004cpq.2_Silent_p.V176V|CSF2RA_uc004cpn.2_Silent_p.V176V|CSF2RA_uc004cpo.2_Silent_p.V176V|CSF2RA_uc010ncu.2_RNA|CSF2RA_uc011mhc.1_Silent_p.V43V|CSF2RA_uc004cpp.2_Silent_p.V176V|CSF2RA_uc010ncv.2_Silent_p.V176V|CSF2RA_uc004cpr.2_Silent_p.V176V	p.V176V	NM_001161529	NP_001155001	P15509	CSF2R_HUMAN			8	850	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	176			Extracellular (Potential).		A7J003|A8KAM1|B4DW68|J3JS76|J3JS77|O00207|Q14429|Q14430|Q14431|Q16564	Silent	SNP	ENST00000381524.3	37	c.528G>A	CCDS35191.1																																																																																				PASS	0.433	CSF2RA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000035013.2			41	263	41	263	---	---	---	---
MAGEB2	4113	broad.mit.edu	37	X	30236741	30236741	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chrX:30236741G>T	ENST00000378988.4	+	2	145	c.44G>T	c.(43-45)cGc>cTc	p.R15L		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	15								p.R15L(2)		breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						CGTGAGAAACGCCGCAAGGCC	0.542																																						uc004dbz.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(43-45)CGC>CTC		melanoma antigen family B, 2							42.0	40.0	40.0					X																	30236741		2202	4300	6502	SO:0001583	missense	4113						protein binding	g.chrX:30236741G>T	AF015766	CCDS14219.1	Xp21.3	2009-03-17			ENSG00000099399	ENSG00000099399			6809	protein-coding gene	gene with protein product	"""DSS/AHC critical interval MAGE superfamily 6"", ""melanoma-associated antigen B2"", ""cancer/testis antigen family 3, member 2"""	300098				9441743	Standard	NM_002364		Approved	DAM6, MAGE-XP-2, MGC26438, CT3.2	uc004dbz.3	O15479	OTTHUMG00000021319	ENST00000378988.4:c.44G>T	X.37:g.30236741G>T	ENSP00000368273:p.Arg15Leu						p.R15L	NM_002364	NP_002355	O15479	MAGB2_HUMAN			2	147	+			15					O75860	Missense_Mutation	SNP	ENST00000378988.4	37	c.44G>T	CCDS14219.1	.	.	.	.	.	.	.	.	.	.	G	14.94	2.683920	0.47991	.	.	ENSG00000099399	ENST00000378988	T	0.06768	3.26	3.43	2.57	0.30868	Melanoma associated antigen, MAGE, N-terminal (1);	0.563705	0.15565	N	0.255729	T	0.29817	0.0745	M	0.90650	3.135	0.09310	N	1	D	0.89917	1.0	D	0.77557	0.99	T	0.06285	-1.0835	10	0.66056	D	0.02	.	5.9451	0.19213	0.1464:0.0:0.8536:0.0	.	15	O15479	MAGB2_HUMAN	L	15	ENSP00000368273:R15L	ENSP00000368273:R15L	R	+	2	0	MAGEB2	30146662	0.183000	0.23186	0.102000	0.21198	0.013000	0.08279	0.883000	0.28200	0.839000	0.34971	-0.322000	0.08575	CGC		PASS	0.542	MAGEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056157.1	NM_002364		5	9	5	9	---	---	---	---
SYTL5	94122	broad.mit.edu	37	X	37953630	37953630	+	Missense_Mutation	SNP	C	C	A	rs187009472		TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chrX:37953630C>A	ENST00000357972.5	+	8	1460	c.914C>A	c.(913-915)aCt>aAt	p.T305N	SYTL5_ENST00000456733.2_Missense_Mutation_p.T305N|TM4SF2_ENST00000465127.1_Intron|SYTL5_ENST00000297875.2_Missense_Mutation_p.T305N			Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5	305					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	metal ion binding (GO:0046872)	p.T305N(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						CGCAGAAACACTTCTGGCACA	0.423																																						uc004ddu.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(913-915)ACT>AAT		synaptotagmin-like 5 isoform 1							121.0	98.0	106.0					X																	37953630		2202	4300	6502	SO:0001583	missense	94122				intracellular protein transport	membrane	metal ion binding|Rab GTPase binding	g.chrX:37953630C>A		CCDS14244.1, CCDS55399.1	Xp21.1	2008-02-05			ENSG00000147041	ENSG00000147041			15589	protein-coding gene	gene with protein product	"""exophilin 9"""						Standard	NM_138780		Approved		uc004ddx.3	Q8TDW5	OTTHUMG00000033176	ENST00000357972.5:c.914C>A	X.37:g.37953630C>A	ENSP00000350657:p.Thr305Asn					SYTL5_uc004ddv.2_Missense_Mutation_p.T305N|SYTL5_uc004ddx.2_Missense_Mutation_p.T305N	p.T305N	NM_001163335	NP_001156807	Q8TDW5	SYTL5_HUMAN			9	1448	+			305					A2RRF2	Missense_Mutation	SNP	ENST00000357972.5	37	c.914C>A	CCDS14244.1	.	.	.	.	.	.	.	.	.	.	C	2.495	-0.316568	0.05422	.	.	ENSG00000147041	ENST00000297875;ENST00000357972;ENST00000456733	T;T;T	0.20881	2.04;2.04;2.31	4.86	3.99	0.46301	.	0.824419	0.11352	N	0.572869	T	0.18173	0.0436	L	0.51422	1.61	0.09310	N	1	B;B	0.11235	0.002;0.004	B;B	0.08055	0.003;0.003	T	0.34700	-0.9818	10	0.17369	T	0.5	0.7282	7.0808	0.25229	0.0:0.7878:0.0:0.2122	.	305;305	A2RRF2;Q8TDW5	.;SYTL5_HUMAN	N	305	ENSP00000297875:T305N;ENSP00000350657:T305N;ENSP00000395220:T305N	ENSP00000297875:T305N	T	+	2	0	SYTL5	37838574	0.000000	0.05858	0.002000	0.10522	0.194000	0.23727	0.046000	0.14035	0.834000	0.34852	0.513000	0.50165	ACT		PASS	0.423	SYTL5-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080883.1	NM_138780		9	35	9	35	---	---	---	---
BRWD3	254065	broad.mit.edu	37	X	79945466	79945466	+	Splice_Site	SNP	C	C	A			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chrX:79945466C>A	ENST00000373275.4	-	32	3944	c.3728G>T	c.(3727-3729)gGg>gTg	p.G1243V	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1243					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)			p.G1243V(1)		breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TGCTTCTTACCCAATAAATCG	0.294																																						uc004edt.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(3727-3729)GGG>GTG		bromodomain and WD repeat domain containing 3							77.0	64.0	69.0					X																	79945466		2202	4299	6501	SO:0001630	splice_region_variant	254065							g.chrX:79945466C>A		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.3728+1G>T	X.37:g.79945466C>A						BRWD3_uc010nmi.1_RNA|BRWD3_uc004edo.2_Missense_Mutation_p.G839V|BRWD3_uc004edp.2_Missense_Mutation_p.G1072V|BRWD3_uc004edq.2_Missense_Mutation_p.G839V|BRWD3_uc010nmj.1_Missense_Mutation_p.G839V|BRWD3_uc004edr.2_Missense_Mutation_p.G913V|BRWD3_uc004eds.2_Missense_Mutation_p.G839V|BRWD3_uc004edu.2_Missense_Mutation_p.G913V|BRWD3_uc004edv.2_Missense_Mutation_p.G839V|BRWD3_uc004edw.2_Missense_Mutation_p.G839V|BRWD3_uc004edx.2_Missense_Mutation_p.G839V|BRWD3_uc004edy.2_Missense_Mutation_p.G839V|BRWD3_uc004edz.2_Missense_Mutation_p.G913V|BRWD3_uc004eea.2_Missense_Mutation_p.G913V|BRWD3_uc004eeb.2_Missense_Mutation_p.G839V	p.G1243V	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN			32	3991	-			1243					C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	c.3728G>T	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.044510	0.75732	.	.	ENSG00000165288	ENST00000373275	T	0.54071	0.59	4.44	4.44	0.53790	Bromodomain (2);	0.101008	0.64402	D	0.000002	T	0.59335	0.2186	M	0.69823	2.125	0.80722	D	1	P	0.51449	0.945	P	0.47251	0.542	T	0.64114	-0.6483	9	.	.	.	-9.9241	16.5629	0.84570	0.0:1.0:0.0:0.0	.	1243	Q6RI45	BRWD3_HUMAN	V	1243	ENSP00000362372:G1243V	.	G	-	2	0	BRWD3	79832122	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.543000	0.67225	2.170000	0.68504	0.594000	0.82650	GGG		PASS	0.294	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252	Missense_Mutation	5	26	5	26	---	---	---	---
PCDH11X	27328	broad.mit.edu	37	X	91134254	91134254	+	Silent	SNP	G	G	T			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chrX:91134254G>T	ENST00000373094.1	+	2	3860	c.3015G>T	c.(3013-3015)gtG>gtT	p.V1005V	PCDH11X_ENST00000298274.8_Silent_p.V1005V|PCDH11X_ENST00000373088.1_Silent_p.V1005V|PCDH11X_ENST00000373097.1_Silent_p.V1005V|PCDH11X_ENST00000361724.1_Silent_p.V1005V|PCDH11X_ENST00000361655.2_Silent_p.V1005V|PCDH11X_ENST00000504220.2_Silent_p.V1005V|PCDH11X_ENST00000395337.2_Silent_p.V1005V|PCDH11X_ENST00000406881.1_Silent_p.V1005V	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1005					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V1005V(3)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						AGGTACCTGTGTCCGTACACA	0.413																																					NSCLC(38;925 1092 2571 38200 45895)	uc004efk.1																			3	Substitution - coding silent(3)		lung(3)	large_intestine(2)	2						c.(3013-3015)GTG>GTT		protocadherin 11 X-linked isoform c							161.0	129.0	140.0					X																	91134254		2203	4300	6503	SO:0001819	synonymous_variant	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91134254G>T	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.3015G>T	X.37:g.91134254G>T						PCDH11X_uc004efl.1_Silent_p.V1005V|PCDH11X_uc004efo.1_Silent_p.V1005V|PCDH11X_uc010nmv.1_Silent_p.V1005V|PCDH11X_uc004efm.1_Silent_p.V1005V|PCDH11X_uc004efn.1_Silent_p.V1005V|PCDH11X_uc004efh.1_Silent_p.V1005V|PCDH11X_uc004efj.1_Silent_p.V1005V	p.V1005V	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN			2	3860	+			1005			Cytoplasmic (Potential).		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Silent	SNP	ENST00000373094.1	37	c.3015G>T	CCDS14461.1																																																																																				PASS	0.413	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		33	83	33	83	---	---	---	---
AMOT	154796	broad.mit.edu	37	X	112033995	112033995	+	Nonsense_Mutation	SNP	G	G	A			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chrX:112033995G>A	ENST00000524145.1	-	8	2016	c.1942C>T	c.(1942-1944)Cag>Tag	p.Q648*	AMOT_ENST00000371959.3_Nonsense_Mutation_p.Q648*|AMOT_ENST00000304758.1_Nonsense_Mutation_p.Q239*|AMOT_ENST00000371962.1_Nonsense_Mutation_p.Q416*|AMOT_ENST00000371958.1_Nonsense_Mutation_p.Q416*			Q4VCS5	AMOT_HUMAN	angiomotin	648					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)	p.Q239*(1)|p.Q648*(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						TTGGTGGGCTGACAGTTGCCC	0.512																																						uc004epr.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(1)	1						c.(1942-1944)CAG>TAG		angiomotin isoform 1							107.0	93.0	98.0					X																	112033995		2203	4300	6503	SO:0001587	stop_gained	154796				actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction|tight junction	angiostatin binding|protein binding|receptor activity	g.chrX:112033995G>A	AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.1942C>T	X.37:g.112033995G>A	ENSP00000429013:p.Gln648*					AMOT_uc004eps.2_Nonsense_Mutation_p.Q239*	p.Q648*	NM_001113490	NP_001106962	Q4VCS5	AMOT_HUMAN			7	1942	-			648			Potential.		Q504X5|Q9HD27|Q9UPT1	Nonsense_Mutation	SNP	ENST00000524145.1	37	c.1942C>T	CCDS48154.1	.	.	.	.	.	.	.	.	.	.	G	36	5.661337	0.96734	.	.	ENSG00000126016	ENST00000304758;ENST00000371959;ENST00000371962;ENST00000524145;ENST00000371958	.	.	.	6.08	6.08	0.98989	.	0.105286	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	-14.6972	18.3623	0.90379	0.0:0.0:1.0:0.0	.	.	.	.	X	239;648;416;648;416	.	ENSP00000305557:Q239X	Q	-	1	0	AMOT	111920651	1.000000	0.71417	0.974000	0.42286	0.058000	0.15608	9.845000	0.99498	2.562000	0.86427	0.600000	0.82982	CAG		PASS	0.512	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378570.1	NM_133265		16	45	16	45	---	---	---	---
TENM1	10178	broad.mit.edu	37	X	123518273	123518273	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chrX:123518273A>G	ENST00000371130.3	-	29	6550	c.6487T>C	c.(6487-6489)Tct>Cct	p.S2163P	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000422452.2_Missense_Mutation_p.S2170P	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	2163					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.S2165P(1)									TCATTTACAGAAACAGTCTGA	0.433																																						uc004euj.2																			1	Substitution - Missense(1)		lung(1)	ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						c.(6487-6489)TCT>CCT		odz, odd Oz/ten-m homolog 1 isoform 3							159.0	142.0	147.0					X																	123518273		2203	4300	6503	SO:0001583	missense	10178				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	g.chrX:123518273A>G	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.6487T>C	X.37:g.123518273A>G	ENSP00000360171:p.Ser2163Pro					ODZ1_uc011muj.1_Missense_Mutation_p.S2169P|ODZ1_uc010nqy.2_Missense_Mutation_p.S2170P	p.S2163P	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN			29	6551	-			2163			YD 17.|Extracellular (Potential).		B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.6487T>C	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	A	15.16	2.749917	0.49257	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.86366	-2.11;-2.07	5.46	4.22	0.49857	.	0.116821	0.64402	D	0.000011	D	0.87680	0.6238	L	0.56769	1.78	0.58432	D	0.999998	D;D;D	0.60575	0.988;0.988;0.979	P;P;P	0.51806	0.598;0.676;0.68	D	0.87374	0.2352	10	0.46703	T	0.11	.	11.2509	0.49026	0.8493:0.1507:0.0:0.0	.	2169;2170;2163	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	P	2163;2170	ENSP00000360171:S2163P;ENSP00000403954:S2170P	ENSP00000360171:S2163P	S	-	1	0	ODZ1	123345954	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	5.111000	0.64628	1.819000	0.53055	0.441000	0.28932	TCT		PASS	0.433	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		3	89	3	89	---	---	---	---
TMEM185A	84548	broad.mit.edu	37	X	148685677	148685677	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chrX:148685677G>T	ENST00000316916.8	-	4	787	c.483C>A	c.(481-483)gaC>gaA	p.D161E	TMEM185A_ENST00000536359.1_Missense_Mutation_p.D102E|TMEM185A_ENST00000507237.1_Missense_Mutation_p.D161E	NM_032508.2	NP_115897.1	Q8NFB2	T185A_HUMAN	transmembrane protein 185A	161						dendrite (GO:0030425)|integral component of membrane (GO:0016021)		p.D161E(1)		kidney(1)|large_intestine(3)|lung(10)|ovary(1)	15	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GGATGATCTTGTCCAGTCTTA	0.299																																						uc011mxq.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(481-483)GAC>GAA		transmembrane protein 185A							72.0	66.0	68.0					X																	148685677		2202	4296	6498	SO:0001583	missense	84548					integral to membrane		g.chrX:148685677G>T	AF353675	CCDS14689.1, CCDS55523.1, CCDS76041.1	Xq28	2014-01-28	2007-02-05	2007-02-05	ENSG00000155984	ENSG00000269556			17125	protein-coding gene	gene with protein product		300031	"""chromosome X open reading frame 13"", ""family with sequence similarity 11, member A"""	CXorf13, FAM11A		12404111	Standard	NM_032508		Approved		uc022cgl.1	Q8NFB2	OTTHUMG00000022625	ENST00000316916.8:c.483C>A	X.37:g.148685677G>T	ENSP00000359449:p.Asp161Glu					HSFX2_uc004fdl.2_Intron|HSFX1_uc004fdm.2_Intron|TMEM185A_uc011mxp.1_Missense_Mutation_p.D102E|TMEM185A_uc004fdo.2_Intron|TMEM185A_uc004fdp.3_Missense_Mutation_p.D78E	p.D161E	NM_032508	NP_115897	Q8NFB2	T185A_HUMAN			5	794	-	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)		161			Helical; (Potential).		B3KTZ3|Q3SYH1|Q96CW3|Q96KE8	Missense_Mutation	SNP	ENST00000316916.8	37	c.483C>A	CCDS14689.1	.	.	.	.	.	.	.	.	.	.	g	18.77	3.695088	0.68386	.	.	ENSG00000155984	ENST00000316916;ENST00000536359;ENST00000507237	T;T;T	0.35421	1.31;1.31;1.31	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.57227	0.2039	M	0.81942	2.565	0.80722	D	1	P;P;D	0.71674	0.716;0.837;0.998	B;B;D	0.65140	0.434;0.429;0.932	T	0.62817	-0.6774	10	0.87932	D	0	-14.362	9.8417	0.41002	0.1082:0.0:0.8918:0.0	.	161;102;161	Q8NFB2;F5H5U0;E7EMM1	T185A_HUMAN;.;.	E	161;102;161	ENSP00000359449:D161E;ENSP00000443119:D102E;ENSP00000427766:D161E	ENSP00000359449:D161E	D	-	3	2	TMEM185A	148493472	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.555000	0.53727	2.039000	0.60335	0.591000	0.81541	GAC		PASS	0.299	TMEM185A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058710.4	NM_032508		5	74	5	74	---	---	---	---
MAGEA8	4107	broad.mit.edu	37	X	149013524	149013524	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chrX:149013524T>C	ENST00000542674.1	+	3	999	c.478T>C	c.(478-480)Tgc>Cgc	p.C160R	MAGEA8_ENST00000535454.1_Missense_Mutation_p.C160R|MAGEA8_ENST00000286482.1_Missense_Mutation_p.C160R	NM_001166401.1	NP_001159873.1	P43361	MAGA8_HUMAN	melanoma antigen family A, 8	160	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.C160R(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)					AGCCTCTGAGTGCATGCAGGT	0.483																																						uc004fdw.1																			1	Substitution - Missense(1)		lung(1)		0						c.(478-480)TGC>CGC		melanoma antigen family A, 8							85.0	78.0	80.0					X																	149013524		2203	4298	6501	SO:0001583	missense	4107							g.chrX:149013524T>C		CCDS14692.1	Xq28	2009-03-13			ENSG00000156009	ENSG00000156009			6806	protein-coding gene	gene with protein product	"""MAGE-8 antigen"", ""cancer/testis antigen family 1, member 8"""	300341		MAGE8		8575766	Standard	NM_005364		Approved	MGC2182, CT1.8	uc004fdw.2	P43361	OTTHUMG00000022635	ENST00000542674.1:c.478T>C	X.37:g.149013524T>C	ENSP00000443776:p.Cys160Arg						p.C160R	NM_005364	NP_005355	P43361	MAGA8_HUMAN			3	693	+	Acute lymphoblastic leukemia(192;6.56e-05)		160			MAGE.		Q9BUN9	Missense_Mutation	SNP	ENST00000542674.1	37	c.478T>C	CCDS14692.1	.	.	.	.	.	.	.	.	.	.	.	10.72	1.429425	0.25726	.	.	ENSG00000156009	ENST00000535454;ENST00000542674;ENST00000286482	T;T;T	0.04406	3.63;3.63;3.63	0.963	-0.915	0.10494	.	0.463675	0.25202	N	0.032379	T	0.03827	0.0108	N	0.20685	0.6	0.41201	D	0.986377	P	0.37688	0.605	P	0.46940	0.532	T	0.55528	-0.8127	10	0.24483	T	0.36	.	2.7696	0.05330	0.4182:0.0:0.0:0.5818	.	160	P43361	MAGA8_HUMAN	R	160	ENSP00000438293:C160R;ENSP00000443776:C160R;ENSP00000286482:C160R	ENSP00000286482:C160R	C	+	1	0	MAGEA8	148774182	0.000000	0.05858	0.657000	0.29651	0.611000	0.37282	-0.457000	0.06745	-0.261000	0.09405	0.151000	0.16131	TGC		PASS	0.483	MAGEA8-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058728.1	NM_005364		5	67	5	67	---	---	---	---
VAMP7	6845	broad.mit.edu	37	X	155127863	155127863	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chrX:155127863C>G	ENST00000286448.6	+	4	457	c.292C>G	c.(292-294)Ctt>Gtt	p.L98V	VAMP7_ENST00000460621.1_Missense_Mutation_p.L57V|VAMP7_ENST00000262640.6_Missense_Mutation_p.L98V|VAMP7_ENST00000479687.1_3'UTR	NM_001145149.2|NM_005638.5	NP_001138621.1|NP_005629.1	P51809	VAMP7_HUMAN	vesicle-associated membrane protein 7	98	Longin. {ECO:0000255|PROSITE- ProRule:PRU00231}.			L -> P (in Ref. 5; BAD96514). {ECO:0000305}.	calcium ion-dependent exocytosis (GO:0017156)|endosome to lysosome transport (GO:0008333)|eosinophil degranulation (GO:0043308)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi to plasma membrane protein transport (GO:0043001)|membrane organization (GO:0061024)|neutrophil degranulation (GO:0043312)|phagocytosis, engulfment (GO:0006911)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of protein targeting to vacuolar membrane (GO:1900483)|SNARE complex assembly (GO:0035493)|triglyceride transport (GO:0034197)|vesicle fusion (GO:0006906)|vesicle fusion with Golgi apparatus (GO:0048280)|vesicle-mediated transport (GO:0016192)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|synapse (GO:0045202)		p.L98V(2)		large_intestine(1)|lung(8)	9	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ACAGACAGCACTTCCATATGC	0.393																																						uc004fnr.2																			2	Substitution - Missense(2)		lung(2)		0						c.(292-294)CTT>GTT		vesicle-associated membrane protein 7 isoform 1							256.0	240.0	246.0					X																	155127863		2203	4296	6499	SO:0001583	missense	6845				calcium ion-dependent exocytosis|endosome to lysosome transport|eosinophil degranulation|ER to Golgi vesicle-mediated transport|neutrophil degranulation|phagocytosis, engulfment|post-Golgi vesicle-mediated transport|protein transport|vesicle fusion	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|phagocytic vesicle membrane|plasma membrane|SNARE complex|transport vesicle membrane	protein binding	g.chrX:155127863C>G	AJ295938	CCDS14770.4, CCDS48199.1, CCDS55548.1	Xq28 and Yq12	2013-02-13	2007-12-05	2007-12-05	ENSG00000124333	ENSG00000124333		"""Pseudoautosomal regions / PAR2"", ""Vesicle-associated membrane proteins"""	11486	protein-coding gene	gene with protein product		300053	"""synaptobrevin-like 1"""	SYBL1		8640232, 11440841	Standard	NM_001145149		Approved	VAMP-7, TI-VAMP	uc004fns.3	P51809	OTTHUMG00000022679	ENST00000286448.6:c.292C>G	X.37:g.155127863C>G	ENSP00000286448:p.Leu98Val					VAMP7_uc004fnt.2_Missense_Mutation_p.L57V|VAMP7_uc011naa.1_Missense_Mutation_p.L59V|VAMP7_uc011nab.1_5'UTR|VAMP7_uc004fns.2_Missense_Mutation_p.L98V|VAMP7_uc011nac.1_Missense_Mutation_p.L31V	p.L98V	NM_005638	NP_005629	P51809	VAMP7_HUMAN			4	466	+	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		98	L -> P (in Ref. 5; BAD96514).		Longin.|Cytoplasmic (Potential).		Q53GY7|Q7Z409|Q9H4A7	Missense_Mutation	SNP	ENST00000286448.6	37	c.292C>G	CCDS14770.4	.	.	.	.	.	.	.	.	.	.	C	12.76	2.033159	0.35893	.	.	ENSG00000124333	ENST00000286448;ENST00000262640;ENST00000460621	T;T;T	0.21543	2.0;2.0;2.0	3.07	3.07	0.35406	Longin (2);Longin-like (1);	0.000000	0.85682	D	0.000000	T	0.15478	0.0373	.	.	.	0.09310	N	1	B;B;B;B;B	0.28233	0.153;0.05;0.204;0.062;0.006	B;B;B;B;B	0.31101	0.124;0.058;0.076;0.026;0.016	T	0.17899	-1.0354	9	0.31617	T	0.26	.	11.4078	0.49908	0.0:1.0:0.0:0.0	.	31;59;57;98;98	B4DE96;B4DIH9;P51809-3;P51809-2;P51809	.;.;.;.;VAMP7_HUMAN	V	98;98;57	ENSP00000286448:L98V;ENSP00000262640:L98V;ENSP00000427822:L57V	ENSP00000262640:L98V	L	+	1	0	VAMP7	154781057	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	5.792000	0.69052	1.824000	0.53156	0.287000	0.19450	CTT		PASS	0.393	VAMP7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058843.1	NM_005638		13	156	13	156	---	---	---	---
LINC01347	731275	broad.mit.edu	37	1	243251439	243251439	+	lincRNA	DEL	T	T	-			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr1:243251439delT	ENST00000417964.1	-	0	663																											aaaaaaaaaaTTCCTTTGGGA	0.458																																						uc001hzq.1																			0													Homo sapiens cDNA FLJ52610 complete cds.																																						0							g.chr1:243251439delT																													1.37:g.243251439delT														8		-									RNA	DEL	ENST00000417964.1	37	c.1193delA																																																																																						0.458	RP11-261C10.3-006	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000096168.1			4	2	4	2	---	---	---	---
WNT6	7475	broad.mit.edu	37	2	219724790	219724792	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr2:219724790_219724792delGCT	ENST00000233948.3	+	1	247_249	c.30_32delGCT	c.(28-33)gggctg>ggg	p.L17del	WNT6_ENST00000486233.1_3'UTR	NM_006522.3	NP_006513.1	Q9Y6F9	WNT6_HUMAN	wingless-type MMTV integration site family, member 6	17					axis specification (GO:0009798)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|cornea development in camera-type eye (GO:0061303)|epithelial-mesenchymal cell signaling (GO:0060684)|nephron tubule formation (GO:0072079)|neuron differentiation (GO:0030182)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of gene expression (GO:0010628)|positive regulation of tooth mineralization (GO:0070172)|positive regulation of transcription, DNA-templated (GO:0045893)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)	p.L17delL(1)		large_intestine(1)|ovary(2)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCCGCCTCGGGCTGCTGCTGCTG	0.773																																						uc002vjc.1																			1	Deletion - In frame(1)		central_nervous_system(1)	ovary(2)|skin(1)	3						c.(28-33)GGGCTG>GGG		wingless-type MMTV integration site family,				68,3608		1,66,1771						1.6	0.4			5	195,7107		11,173,3467	no	coding	WNT6	NM_006522.3		12,239,5238	A1A1,A1R,RR		2.6705,1.8498,2.3957				263,10715				SO:0001651	inframe_deletion	7475				anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|cornea development in camera-type eye|neuron differentiation|odontogenesis of dentine-containing tooth|positive regulation of gene expression|positive regulation of tooth mineralization|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity	g.chr2:219724790_219724792delGCT	AF079522	CCDS2425.1	2q35	2008-05-23			ENSG00000115596	ENSG00000115596		"""Wingless-type MMTV integration sites"""	12785	protein-coding gene	gene with protein product		604663				10343101, 11350055	Standard	NM_006522		Approved		uc002vjc.1	Q9Y6F9	OTTHUMG00000133082	ENST00000233948.3:c.30_32delGCT	2.37:g.219724799_219724801delGCT	ENSP00000233948:p.Leu17del						p.L17del	NM_006522	NP_006513	Q9Y6F9	WNT6_HUMAN		Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	1	245_247	+		Renal(207;0.0474)	17					Q9H1J6|Q9H238	In_Frame_Del	DEL	ENST00000233948.3	37	c.30_32delGCT	CCDS2425.1																																																																																					0.773	WNT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256727.2	NM_006522		4	2	4	2	---	---	---	---
KRTAP2-4	85294	broad.mit.edu	37	17	39221759	39221773	+	In_Frame_Del	DEL	GCAGGGGGGCCGGCA	GCAGGGGGGCCGGCA	-	rs368479035|rs200935003|rs200113657|rs532535358|rs349782	byFrequency	TCGA-60-2709-01A-21D-1817-08	TCGA-60-2709-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4f321c92-ae27-4253-bd8b-4505ba8c7dc4	288537e6-f3c2-47bd-9597-72438bf457a7	g.chr17:39221759_39221773delGCAGGGGGGCCGGCA	ENST00000394015.2	-	1	358_372	c.325_339delTGCCGGCCCCCCTGC	c.(325-339)tgccggcccccctgcdel	p.CRPPC109del		NM_033184.3	NP_149440.1	Q9BYR9	KRA24_HUMAN	keratin associated protein 2-4	109	10 X 5 AA repeats of C-C-[CDPQRW]- [ADPRS]-[CIPSTV].					keratin filament (GO:0045095)				skin(1)	1		Breast(137;0.000496)|Myeloproliferative disorder(1115;0.204)	STAD - Stomach adenocarcinoma(17;0.000371)			TCGGCTGGCCGCAGGGGGGCCGGCAGCAGGGGGAC	0.66														90	0.0179712	0.0038	0.0202	5008	,	,		17196	0.0308		0.0288	False		,,,				2504	0.0112					uc002hvy.2																			0					0						c.(325-339)TGCCGGCCCCCCTGCdel		keratin associated protein 2-4				32,2788		10,12,1388						4.5	1.0			17	146,5894		14,118,2888	no	coding	KRTAP2-4	NM_033184.3		24,130,4276	A1A1,A1R,RR		2.4172,1.1348,2.009				178,8682				SO:0001651	inframe_deletion	85294					keratin filament		g.chr17:39221759_39221773delGCAGGGGGGCCGGCA	AJ406930		17q21.2	2012-04-19			ENSG00000213417	ENSG00000213417		"""Keratin associated proteins"""	18891	protein-coding gene	gene with protein product						11279113	Standard	NM_033184		Approved	KAP2.4	uc002hvy.3	Q9BYR9	OTTHUMG00000133594	ENST00000394015.2:c.325_339delTGCCGGCCCCCCTGC	17.37:g.39221759_39221773delGCAGGGGGGCCGGCA	ENSP00000377583:p.Cys109_Cys113del						p.CRPPC109del	NM_033184	NP_149440	Q9BYR9	KRA24_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	359_373	-		Breast(137;0.000496)|Myeloproliferative disorder(1115;0.204)	109_113					Q495J2	In_Frame_Del	DEL	ENST00000394015.2	37	c.325_339delTGCCGGCCCCCCTGC	CCDS32648.1																																																																																					0.660	KRTAP2-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257698.1	NM_033184		4	2	4	2	---	---	---	---
