#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
CCDC27	148870	broad.mit.edu	37	1	3679887	3679887	+	Silent	SNP	G	G	A	rs141116417	byFrequency	TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr1:3679887G>A	ENST00000294600.2	+	7	1254	c.1170G>A	c.(1168-1170)ccG>ccA	p.P390P		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	390	Glu-rich.		P -> L (in dbSNP:rs11806371).					p.P390P(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		gggagctgccggaggaagagg	0.627													G|||	17	0.00339457	0.0061	0.0072	5008	,	,		18613	0.0		0.004	False		,,,				2504	0.0					uc001akv.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1168-1170)CCG>CCA		coiled-coil domain containing 27		G		36,4368	39.2+/-71.8	0,36,2166	76.0	78.0	77.0		1170	-3.4	0.0	1	dbSNP_134	77	38,8560	24.0+/-70.4	0,38,4261	no	coding-synonymous	CCDC27	NM_152492.2		0,74,6427	AA,AG,GG		0.442,0.8174,0.5691		390/657	3679887	74,12928	2202	4299	6501	SO:0001819	synonymous_variant	148870							g.chr1:3679887G>A		CCDS50.1	1p36.32	2008-02-05			ENSG00000162592	ENSG00000162592			26546	protein-coding gene	gene with protein product							Standard	NM_152492		Approved	FLJ32825	uc001akv.2	Q2M243	OTTHUMG00000003504	ENST00000294600.2:c.1170G>A	1.37:g.3679887G>A							p.P390P	NM_152492	NP_689705	Q2M243	CCD27_HUMAN		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)	7	1251	+	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)	390			Glu-rich.		Q5TBV3|Q96M50	Silent	SNP	ENST00000294600.2	37	c.1170G>A	CCDS50.1																																																																																				PASS	0.627	CCDC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009740.1	NM_152492		37	27	37	27	---	---	---	---
SLC2A5	6518	broad.mit.edu	37	1	9099965	9099965	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr1:9099965G>A	ENST00000377424.4	-	7	958	c.779C>T	c.(778-780)gCg>gTg	p.A260V	SLC2A5_ENST00000535586.1_Missense_Mutation_p.A145V|SLC2A5_ENST00000536305.1_Missense_Mutation_p.A201V	NM_003039.2	NP_003030.1	P22732	GTR5_HUMAN	solute carrier family 2 (facilitated glucose/fructose transporter), member 5	260					carbohydrate metabolic process (GO:0005975)|cellular response to fructose stimulus (GO:0071332)|fructose transport (GO:0015755)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fructose transmembrane transporter activity (GO:0005353)|glucose transmembrane transporter activity (GO:0005355)	p.A260V(1)		endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GATGAAGCCCGCGGCCTTCTC	0.677																																						uc001apo.2																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|ovary(1)	3						c.(778-780)GCG>GTG		solute carrier family 2 (facilitated							27.0	29.0	28.0					1																	9099965		2203	4299	6502	SO:0001583	missense	6518				carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity	g.chr1:9099965G>A	BC001820	CCDS99.1, CCDS44054.1	1p36.2	2013-05-22			ENSG00000142583	ENSG00000142583		"""Solute carriers"""	11010	protein-coding gene	gene with protein product		138230		GLUT5		9691177	Standard	NM_003039		Approved		uc001apo.3	P22732	OTTHUMG00000001771	ENST00000377424.4:c.779C>T	1.37:g.9099965G>A	ENSP00000366641:p.Ala260Val					SLC2A5_uc010nzy.1_Missense_Mutation_p.A201V|SLC2A5_uc010nzz.1_Missense_Mutation_p.A145V|SLC2A5_uc010oaa.1_Missense_Mutation_p.A216V|SLC2A5_uc010oab.1_Missense_Mutation_p.A260V	p.A260V	NM_003039	NP_003030	P22732	GTR5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)	7	1071	-	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	260			Cytoplasmic (Potential).		Q14770|Q5T977|Q8IVB3	Missense_Mutation	SNP	ENST00000377424.4	37	c.779C>T	CCDS99.1	.	.	.	.	.	.	.	.	.	.	G	5.469	0.271633	0.10349	.	.	ENSG00000142583	ENST00000377424;ENST00000456780;ENST00000536305;ENST00000535586	T;T;T	0.75050	-0.9;-0.9;-0.9	5.38	-0.255	0.12988	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.914541	0.09462	N	0.798932	T	0.53433	0.1796	N	0.13198	0.31	0.09310	N	1	B;B;B	0.14805	0.011;0.011;0.011	B;B;B	0.19946	0.016;0.027;0.016	T	0.36696	-0.9737	10	0.27082	T	0.32	.	5.9951	0.19489	0.1567:0.0:0.2895:0.5538	.	216;201;260	B4DG19;B4DU31;P22732	.;.;GTR5_HUMAN	V	260;243;201;145	ENSP00000366641:A260V;ENSP00000440688:A201V;ENSP00000442744:A145V	ENSP00000366641:A260V	A	-	2	0	SLC2A5	9022552	0.870000	0.30015	0.025000	0.17156	0.990000	0.78478	2.188000	0.42612	-0.015000	0.14150	0.655000	0.94253	GCG		PASS	0.677	SLC2A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004932.1	NM_003039		28	47	28	47	---	---	---	---
AHDC1	27245	broad.mit.edu	37	1	27877769	27877769	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr1:27877769C>A	ENST00000247087.5	-	5	1454	c.858G>T	c.(856-858)caG>caT	p.Q286H	AHDC1_ENST00000374011.2_Missense_Mutation_p.Q286H			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	286	Pro-rich.						DNA binding (GO:0003677)	p.Q286H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GCTCTAGTGCCTGCGGGTCCA	0.716																																						uc009vsy.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(856-858)CAG>CAT		AT hook, DNA binding motif, containing 1							13.0	17.0	15.0					1																	27877769		2183	4282	6465	SO:0001583	missense	27245						DNA binding	g.chr1:27877769C>A	AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.858G>T	1.37:g.27877769C>A	ENSP00000247087:p.Gln286His					AHDC1_uc009vsz.1_Missense_Mutation_p.Q286H|AHDC1_uc001boh.1_Missense_Mutation_p.Q159H	p.Q286H	NM_001029882	NP_001025053	Q5TGY3	AHDC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)	6	1827	-		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	286			Pro-rich.		Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Missense_Mutation	SNP	ENST00000247087.5	37	c.858G>T	CCDS30652.1	.	.	.	.	.	.	.	.	.	.	C	13.28	2.190147	0.38707	.	.	ENSG00000126705	ENST00000247087;ENST00000374011	T;T	0.49432	0.78;0.78	5.28	4.36	0.52297	.	0.219879	0.22936	U	0.053842	T	0.32971	0.0847	N	0.14661	0.345	0.25870	N	0.983713	P	0.39624	0.681	B	0.41946	0.371	T	0.19516	-1.0303	10	0.87932	D	0	-12.5324	8.5534	0.33467	0.0:0.8211:0.0:0.1789	.	286	Q5TGY3	AHDC1_HUMAN	H	286	ENSP00000247087:Q286H;ENSP00000363123:Q286H	ENSP00000247087:Q286H	Q	-	3	2	AHDC1	27750356	1.000000	0.71417	0.985000	0.45067	0.989000	0.77384	1.987000	0.40687	1.201000	0.43203	0.467000	0.42956	CAG		PASS	0.716	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009523.3			36	62	36	62	---	---	---	---
SPOCD1	90853	broad.mit.edu	37	1	32262312	32262312	+	Missense_Mutation	SNP	A	A	G			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr1:32262312A>G	ENST00000360482.2	-	10	2279	c.2150T>C	c.(2149-2151)cTg>cCg	p.L717P	SPOCD1_ENST00000257100.3_Missense_Mutation_p.L210P|SPOCD1_ENST00000533231.1_Missense_Mutation_p.L717P|SPOCD1_ENST00000373648.2_3'UTR	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	717	TFIIS central. {ECO:0000255|PROSITE- ProRule:PRU00651}.				negative regulation of phosphatase activity (GO:0010923)|transcription, DNA-templated (GO:0006351)			p.L717P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		AATGATATTCAGGCCCTGAAG	0.567																																						uc001bts.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|breast(1)	6						c.(2149-2151)CTG>CCG		SPOC domain containing 1							109.0	108.0	108.0					1																	32262312		2203	4300	6503	SO:0001583	missense	90853				transcription, DNA-dependent			g.chr1:32262312A>G	AK058077	CCDS347.1, CCDS60066.1, CCDS72748.1	1p35.1	2014-06-13			ENSG00000134668	ENSG00000134668			26338	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 146"""					12477932	Standard	NM_144569		Approved	FLJ25348, PPP1R146	uc001bts.1	Q6ZMY3	OTTHUMG00000003879	ENST00000360482.2:c.2150T>C	1.37:g.32262312A>G	ENSP00000353670:p.Leu717Pro					SPOCD1_uc001btt.2_Missense_Mutation_p.L23P|SPOCD1_uc001btu.2_Missense_Mutation_p.L717P|SPOCD1_uc001btv.2_Missense_Mutation_p.L210P|SPOCD1_uc001btw.1_Missense_Mutation_p.L61P	p.L717P	NM_144569	NP_653170	Q6ZMY3	SPOC1_HUMAN		STAD - Stomach adenocarcinoma(196;0.18)	10	2208	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)	717			TFIIS central.		Q24JU3|Q6PI90|Q8N869|Q8N8U0|Q8NBC6|Q96LN6	Missense_Mutation	SNP	ENST00000360482.2	37	c.2150T>C	CCDS347.1	.	.	.	.	.	.	.	.	.	.	A	15.03	2.713207	0.48517	.	.	ENSG00000134668	ENST00000257100;ENST00000360482;ENST00000294514;ENST00000452755;ENST00000533231	T;T;T;T	0.54479	0.57;1.55;0.6;1.55	4.34	4.34	0.51931	Transcription elongation factor S-II, central domain (2);	.	.	.	.	T	0.67720	0.2923	M	0.69248	2.105	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;1.0;1.0;1.0	T	0.70528	-0.4847	9	0.72032	D	0.01	-11.3831	10.2335	0.43268	1.0:0.0:0.0:0.0	.	61;717;154;717	Q6ZMY3-4;Q6ZMY3-2;E9PPM7;Q6ZMY3	.;.;.;SPOC1_HUMAN	P	210;717;115;154;717	ENSP00000257100:L210P;ENSP00000353670:L717P;ENSP00000399778:L154P;ENSP00000435851:L717P	ENSP00000257100:L210P	L	-	2	0	SPOCD1	32034899	1.000000	0.71417	0.999000	0.59377	0.423000	0.31445	4.576000	0.60915	1.739000	0.51704	0.379000	0.24179	CTG		PASS	0.567	SPOCD1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000381912.1	NM_144569		4	417	4	417	---	---	---	---
SLC1A7	6512	broad.mit.edu	37	1	53555552	53555552	+	Silent	SNP	G	G	T			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr1:53555552G>T	ENST00000371494.4	-	9	1408	c.1281C>A	c.(1279-1281)ctC>ctA	p.L427L	SLC1A7_ENST00000488036.1_5'UTR	NM_006671.4	NP_006662.3	O00341	EAA5_HUMAN	solute carrier family 1 (glutamate transporter), member 7	427					dicarboxylic acid transport (GO:0006835)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)	p.L427L(1)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)		CCATGGTGACGAGGCCGGCCT	0.627																																					NSCLC(128;80 1811 21245 38490 51715)	uc001cuy.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(1279-1281)CTC>CTA		solute carrier family 1 (glutamate transporter),	L-Glutamic Acid(DB00142)						81.0	72.0	75.0					1																	53555552		2203	4300	6503	SO:0001819	synonymous_variant	6512					integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr1:53555552G>T	U76362	CCDS574.1, CCDS72796.1, CCDS72797.1, CCDS72798.1	1p32.3	2013-05-22			ENSG00000162383	ENSG00000162383		"""Solute carriers"""	10945	protein-coding gene	gene with protein product		604471				9108121	Standard	NM_001287597		Approved	EAAT5	uc001cuy.3	O00341	OTTHUMG00000008937	ENST00000371494.4:c.1281C>A	1.37:g.53555552G>T						SLC1A7_uc001cux.2_Silent_p.L80L	p.L427L	NM_006671	NP_006662	O00341	EAA5_HUMAN		Colorectal(1306;0.234)	9	1449	-			427			Helical; (Potential).		Q5VVZ0|Q969Z8|Q9BW45	Silent	SNP	ENST00000371494.4	37	c.1281C>A	CCDS574.1																																																																																				PASS	0.627	SLC1A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024746.1	NM_006671		120	117	120	117	---	---	---	---
SGIP1	84251	broad.mit.edu	37	1	67199524	67199524	+	Silent	SNP	C	C	A			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr1:67199524C>A	ENST00000371037.4	+	21	2069	c.1992C>A	c.(1990-1992)ccC>ccA	p.P664P	SGIP1_ENST00000371035.3_Silent_p.P454P|AL354978.1_ENST00000408728.2_RNA|SGIP1_ENST00000435165.2_Silent_p.P169P|SGIP1_ENST00000237247.6_Silent_p.P695P|SGIP1_ENST00000371039.1_Silent_p.P467P|SGIP1_ENST00000371036.3_Silent_p.P466P	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	664	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.|Necessary and sufficient to mediate interaction with CANX. {ECO:0000250}.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)	p.P467P(1)|p.P664P(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						AACAAAAACCCCAGGCTACAT	0.358																																						uc001dcr.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)	3						c.(1990-1992)CCC>CCA		SH3-domain GRB2-like (endophilin) interacting							125.0	120.0	122.0					1																	67199524		2203	4300	6503	SO:0001819	synonymous_variant	84251				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding	g.chr1:67199524C>A	AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.1992C>A	1.37:g.67199524C>A						SGIP1_uc010opd.1_Silent_p.P264P|SGIP1_uc001dcs.2_Silent_p.P264P|SGIP1_uc001dct.2_Silent_p.P266P|SGIP1_uc009wat.2_Silent_p.P458P|SGIP1_uc001dcu.2_Silent_p.P169P	p.P664P	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN			21	2209	+			664					A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Silent	SNP	ENST00000371037.4	37	c.1992C>A	CCDS30744.1																																																																																				PASS	0.358	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025395.4	NM_032291		97	118	97	118	---	---	---	---
ERICH3	127254	broad.mit.edu	37	1	75055689	75055689	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr1:75055689C>T	ENST00000326665.5	-	12	2020	c.1802G>A	c.(1801-1803)gGg>gAg	p.G601E	RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Missense_Mutation_p.G404E	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		601	Glu-rich.							p.G601E(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						TTCCCTGTCCCCCACTGCAGA	0.433																																						uc001dgg.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						c.(1801-1803)GGG>GAG		hypothetical protein LOC127254							67.0	62.0	63.0					1																	75055689		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75055689C>T																												ENST00000326665.5:c.1802G>A	1.37:g.75055689C>T	ENSP00000322609:p.Gly601Glu					uc001dgh.2_Intron|C1orf173_uc001dgi.3_Missense_Mutation_p.G395E	p.G601E	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			12	2021	-			601			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.1802G>A	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	C	0.249	-1.008024	0.02112	.	.	ENSG00000178965	ENST00000326665;ENST00000420661	T;T	0.16897	2.78;2.31	5.26	-6.11	0.02131	.	.	.	.	.	T	0.01558	0.0050	N	0.16656	0.425	0.09310	N	1	B;B	0.12013	0.002;0.005	B;B	0.12156	0.004;0.007	T	0.43925	-0.9361	9	0.02654	T	1	0.3896	6.8529	0.24024	0.1826:0.1894:0.0:0.628	.	404;601	Q5RHP9-3;Q5RHP9	.;CA173_HUMAN	E	601;404	ENSP00000322609:G601E;ENSP00000398581:G404E	ENSP00000322609:G601E	G	-	2	0	C1orf173	74828277	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.554000	0.02172	-1.408000	0.02040	-0.158000	0.13435	GGG		PASS	0.433	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			89	67	89	67	---	---	---	---
SORT1	6272	broad.mit.edu	37	1	109912202	109912202	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr1:109912202C>G	ENST00000256637.6	-	2	374	c.316G>C	c.(316-318)Gat>Cat	p.D106H	SORT1_ENST00000538502.1_5'UTR|SORT1_ENST00000482236.1_5'UTR	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1	106					endocytosis (GO:0006897)|endosome to lysosome transport (GO:0008333)|endosome transport via multivesicular body sorting pathway (GO:0032509)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose import (GO:0046323)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|myotube differentiation (GO:0014902)|negative regulation of lipoprotein lipase activity (GO:0051005)|nerve growth factor signaling pathway (GO:0038180)|neuropeptide signaling pathway (GO:0007218)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|plasma membrane to endosome transport (GO:0048227)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|vesicle organization (GO:0016050)	cell surface (GO:0009986)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network transport vesicle (GO:0030140)	enzyme binding (GO:0019899)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotensin receptor activity, non-G-protein coupled (GO:0030379)	p.D106H(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		CTGAGATCATCAAACACATGC	0.378																																						uc001dxm.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(316-318)GAT>CAT		sortilin 1 preproprotein							77.0	71.0	73.0					1																	109912202		2203	4300	6503	SO:0001583	missense	6272				endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled	g.chr1:109912202C>G	BC023542	CCDS798.1, CCDS55618.1	1p13.3	2008-05-14			ENSG00000134243	ENSG00000134243			11186	protein-coding gene	gene with protein product		602458					Standard	NM_002959		Approved	Gp95, NT3	uc001dxm.2	Q99523	OTTHUMG00000011999	ENST00000256637.6:c.316G>C	1.37:g.109912202C>G	ENSP00000256637:p.Asp106His					SORT1_uc010ovi.1_5'UTR|SORT1_uc009wfb.2_5'UTR	p.D106H	NM_002959	NP_002950	Q99523	SORT_HUMAN		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)	2	365	-		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)	106			Extracellular (Potential).		B4DWI3|C0JYZ0|Q8IZ49	Missense_Mutation	SNP	ENST00000256637.6	37	c.316G>C	CCDS798.1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.737487	0.49045	.	.	ENSG00000134243	ENST00000256637	T	0.15834	2.39	5.65	5.65	0.86999	.	0.200985	0.42821	D	0.000641	T	0.03053	0.0090	N	0.01352	-0.895	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.33701	-0.9858	10	0.49607	T	0.09	-19.7616	15.2341	0.73416	0.0:1.0:0.0:0.0	.	106	Q99523	SORT_HUMAN	H	106	ENSP00000256637:D106H	ENSP00000256637:D106H	D	-	1	0	SORT1	109713725	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.459000	0.45023	2.670000	0.90874	0.467000	0.42956	GAT		PASS	0.378	SORT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033179.1	NM_002959		7	92	7	92	---	---	---	---
TCHH	7062	broad.mit.edu	37	1	152080892	152080892	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr1:152080892C>T	ENST00000368804.1	-	2	4800	c.4801G>A	c.(4801-4803)Gaa>Aaa	p.E1601K		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1601	23 X 26 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)	p.E1601K(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCTGCTGTTCGTCCTCCATG	0.562																																						uc001ezp.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|kidney(1)|central_nervous_system(1)	5						c.(4801-4803)GAA>AAA		trichohyalin							70.0	71.0	70.0					1																	152080892		1937	4136	6073	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152080892C>T	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.4801G>A	1.37:g.152080892C>T	ENSP00000357794:p.Glu1601Lys					TCHH_uc009wne.1_Missense_Mutation_p.E1601K	p.E1601K	NM_007113	NP_009044	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	4801	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1601			23 X 26 AA approximate tandem repeats.		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.4801G>A	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	-	12.02	1.811304	0.32053	.	.	ENSG00000159450	ENST00000368804	T	0.05855	3.38	3.17	2.2	0.27929	.	.	.	.	.	T	0.02230	0.0069	L	0.46157	1.445	0.22001	N	0.999428	D	0.67145	0.996	P	0.45343	0.477	T	0.37979	-0.9682	9	0.11182	T	0.66	.	9.417	0.38528	0.0:0.7673:0.2327:0.0	.	1601	Q07283	TRHY_HUMAN	K	1601	ENSP00000357794:E1601K	ENSP00000357794:E1601K	E	-	1	0	TCHH	150347516	0.000000	0.05858	0.008000	0.14137	0.086000	0.17979	0.096000	0.15147	0.495000	0.27882	0.384000	0.25694	GAA		PASS	0.562	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		6	254	6	254	---	---	---	---
ARHGEF2	9181	broad.mit.edu	37	1	155927613	155927613	+	Missense_Mutation	SNP	T	T	C			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr1:155927613T>C	ENST00000361247.4	-	13	1705	c.1606A>G	c.(1606-1608)Aaa>Gaa	p.K536E	ARHGEF2_ENST00000368316.1_Missense_Mutation_p.K508E|ARHGEF2_ENST00000368315.4_Missense_Mutation_p.K537E|ARHGEF2_ENST00000462460.2_Missense_Mutation_p.K581E|ARHGEF2_ENST00000477754.2_Intron|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.K508E|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.K535E	NM_001162383.1|NM_001162384.1	NP_001155855.1|NP_001155856.1	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	536	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin filament organization (GO:0007015)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular hyperosmotic response (GO:0071474)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to tumor necrosis factor (GO:0071356)|establishment of mitotic spindle orientation (GO:0000132)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of necroptotic process (GO:0060546)|negative regulation of neurogenesis (GO:0050768)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cell proliferation (GO:0042127)|regulation of Rho protein signal transduction (GO:0035023)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|Rac GTPase binding (GO:0048365)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.K508E(1)		breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					AACATCCCTTTCTCCTGGTTG	0.552																																					Melanoma(178;35 2768 6610 28839)	uc001fmt.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1606-1608)AAA>GAA		Rho/Rac guanine nucleotide exchange factor 2							124.0	84.0	97.0					1																	155927613		2203	4300	6503	SO:0001583	missense	9181				actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding	g.chr1:155927613T>C	AB014551	CCDS1125.1, CCDS53375.1, CCDS53376.1	1q21-q22	2013-01-10	2009-06-12		ENSG00000116584	ENSG00000116584		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	682	protein-coding gene	gene with protein product		607560	"""rho/rac guanine nucleotide exchange factor (GEF) 2"""			9857026, 9734811	Standard	NM_004723		Approved	LFP40, GEF-H1, KIAA0651, P40	uc001fmt.2	Q92974	OTTHUMG00000017464	ENST00000361247.4:c.1606A>G	1.37:g.155927613T>C	ENSP00000354837:p.Lys536Glu					ARHGEF2_uc001fmr.2_Missense_Mutation_p.K508E|ARHGEF2_uc001fms.2_Missense_Mutation_p.K535E|ARHGEF2_uc001fmu.2_Missense_Mutation_p.K580E	p.K536E	NM_001162383	NP_001155855	Q92974	ARHG2_HUMAN			13	1724	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		536			PH.		D3DVA6|O75142|Q15079|Q5VY92|Q8TDA3|Q8WUG4|Q9H023	Missense_Mutation	SNP	ENST00000361247.4	37	c.1606A>G	CCDS53376.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.482335	0.84747	.	.	ENSG00000116584	ENST00000313695;ENST00000361247;ENST00000368315;ENST00000368316;ENST00000313667	T;T;T;T;T	0.75050	-0.9;-0.9;-0.9;-0.9;-0.9	5.28	5.28	0.74379	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.50627	D	0.000107	D	0.82972	0.5153	M	0.82323	2.585	0.37801	D	0.927712	D;D;D	0.67145	0.996;0.99;0.996	D;P;D	0.71414	0.973;0.76;0.954	D	0.85729	0.1330	10	0.56958	D	0.05	-19.5927	13.1991	0.59756	0.0:0.0:0.0:1.0	.	580;536;535	D3DVA5;Q92974;Q92974-2	.;ARHG2_HUMAN;.	E	508;536;537;508;535	ENSP00000315325:K508E;ENSP00000354837:K536E;ENSP00000357298:K537E;ENSP00000357299:K508E;ENSP00000314787:K535E	ENSP00000314787:K535E	K	-	1	0	ARHGEF2	154194237	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.696000	0.37773	2.213000	0.71641	0.528000	0.53228	AAA		PASS	0.552	ARHGEF2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046204.2	NM_004723		24	109	24	109	---	---	---	---
INSRR	3645	broad.mit.edu	37	1	156818779	156818779	+	Missense_Mutation	SNP	C	C	A	rs200179263		TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr1:156818779C>A	ENST00000368195.3	-	7	1901	c.1505G>T	c.(1504-1506)cGc>cTc	p.R502L	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	502	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.R502L(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCGCTCCCAGCGTAGCAGGAT	0.701																																						uc010pht.1																			1	Substitution - Missense(1)		lung(1)	lung(11)|ovary(5)|skin(2)|kidney(1)|central_nervous_system(1)	20						c.(1504-1506)CGC>CTC		insulin receptor-related receptor precursor							22.0	23.0	23.0					1																	156818779		2203	4300	6503	SO:0001583	missense	3645				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:156818779C>A	J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"""Fibronectin type III domain containing"""	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.1505G>T	1.37:g.156818779C>A	ENSP00000357178:p.Arg502Leu					NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	p.R502L	NM_014215	NP_055030	P14616	INSRR_HUMAN			7	1759	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		502			Fibronectin type-III 1.		O60724|Q5VZS3	Missense_Mutation	SNP	ENST00000368195.3	37	c.1505G>T	CCDS1160.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.490442	0.84962	.	.	ENSG00000027644	ENST00000368195	T	0.69175	-0.38	4.75	4.75	0.60458	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.48767	D	0.000179	T	0.60766	0.2294	.	.	.	0.40391	D	0.97954	D	0.64830	0.994	P	0.53006	0.715	T	0.62329	-0.6877	9	0.38643	T	0.18	.	10.1358	0.42706	0.0:0.9081:0.0:0.0919	.	502	P14616	INSRR_HUMAN	L	502	ENSP00000357178:R502L	ENSP00000357178:R502L	R	-	2	0	INSRR	155085403	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.864000	0.56024	2.490000	0.84030	0.561000	0.74099	CGC		PASS	0.701	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098929.1	NM_014215		10	18	10	18	---	---	---	---
SPTA1	6708	broad.mit.edu	37	1	158646059	158646059	+	Silent	SNP	C	C	T			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr1:158646059C>T	ENST00000368147.4	-	8	1164	c.984G>A	c.(982-984)gaG>gaA	p.E328E		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	328					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.E328E(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GTGTCAGCTTCTCTGCTTTAG	0.498																																						uc001fst.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(982-984)GAG>GAA		spectrin, alpha, erythrocytic 1							204.0	191.0	195.0					1																	158646059		1921	4138	6059	SO:0001819	synonymous_variant	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158646059C>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.984G>A	1.37:g.158646059C>T							p.E328E	NM_003126	NP_003117	P02549	SPTA1_HUMAN			8	1183	-	all_hematologic(112;0.0378)		328			Spectrin 4.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	ENST00000368147.4	37	c.984G>A	CCDS41423.1																																																																																				PASS	0.498	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		93	411	93	411	---	---	---	---
DNM3	26052	broad.mit.edu	37	1	171958143	171958143	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr1:171958143G>T	ENST00000355305.5	+	4	601	c.444G>T	c.(442-444)caG>caT	p.Q148H	DNM3_ENST00000367731.1_Missense_Mutation_p.Q148H|DNM3_ENST00000358155.4_Missense_Mutation_p.Q148H|DNM3_ENST00000367733.2_Missense_Mutation_p.Q148H|DNM3_ENST00000520906.1_Missense_Mutation_p.Q148H			Q9UQ16	DYN3_HUMAN	dynamin 3	148	Dynamin-type G.				endocytosis (GO:0006897)|filopodium assembly (GO:0046847)|GTP catabolic process (GO:0006184)|synapse assembly (GO:0007416)	dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.Q148H(1)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TGGGAGATCAGCCACCAGATA	0.413																																						uc001gie.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(442-444)CAG>CAT		dynamin 3 isoform a							48.0	46.0	46.0					1																	171958143		1926	4154	6080	SO:0001583	missense	26052				endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding	g.chr1:171958143G>T	AL136712	CCDS44276.1, CCDS60356.1	1q24.1	2013-01-10			ENSG00000197959	ENSG00000197959		"""Pleckstrin homology (PH) domain containing"""	29125	protein-coding gene	gene with protein product	"""Dyna III"""	611445				10048485	Standard	NM_015569		Approved	KIAA0820	uc001gie.4	Q9UQ16	OTTHUMG00000034913	ENST00000355305.5:c.444G>T	1.37:g.171958143G>T	ENSP00000347457:p.Gln148His					DNM3_uc001gid.3_Missense_Mutation_p.Q148H|DNM3_uc009wwb.2_Missense_Mutation_p.Q148H|DNM3_uc001gif.2_Missense_Mutation_p.Q148H	p.Q148H	NM_015569	NP_056384	Q9UQ16	DYN3_HUMAN			4	620	+			148					A9Z1Y1|O14982|O95555|Q1MTM8|Q5W129|Q6P2G1|Q9H0P3|Q9H548|Q9NQ68|Q9NQN6	Missense_Mutation	SNP	ENST00000355305.5	37	c.444G>T		.	.	.	.	.	.	.	.	.	.	G	24.1	4.499252	0.85069	.	.	ENSG00000197959	ENST00000359070;ENST00000358155;ENST00000367733;ENST00000355305;ENST00000367731;ENST00000520906;ENST00000523513	D;D;D;D;D;D	0.97430	-4.38;-4.38;-4.38;-4.38;-4.38;-4.38	5.9	4.99	0.66335	.	0.000000	0.85682	D	0.000000	D	0.98576	0.9524	M	0.92169	3.28	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.99686	1.1000	10	0.87932	D	0	.	13.9919	0.64372	0.0731:0.0:0.9269:0.0	.	148;148;148;148	E5RHK8;Q9UQ16-2;Q9UQ16-3;Q6P2G1	.;.;.;.	H	148;148;148;148;148;148;38	ENSP00000350876:Q148H;ENSP00000356707:Q148H;ENSP00000347457:Q148H;ENSP00000356705:Q148H;ENSP00000429701:Q148H;ENSP00000429416:Q38H	ENSP00000347457:Q148H	Q	+	3	2	DNM3	170224766	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.475000	0.53136	1.496000	0.48567	0.650000	0.86243	CAG		PASS	0.413	DNM3-003	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000084531.1	NM_015569		18	17	18	17	---	---	---	---
DNM3	26052	broad.mit.edu	37	1	172357850	172357850	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr1:172357850G>A	ENST00000355305.5	+	20	2598	c.2441G>A	c.(2440-2442)cGt>cAt	p.R814H	DNM3_ENST00000367731.1_Missense_Mutation_p.R804H|DNM3_ENST00000358155.4_Missense_Mutation_p.R808H			Q9UQ16	DYN3_HUMAN	dynamin 3	814					endocytosis (GO:0006897)|filopodium assembly (GO:0046847)|GTP catabolic process (GO:0006184)|synapse assembly (GO:0007416)	dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.R808H(1)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						GTCCCATTCCGTCCAGGCCCA	0.647																																						uc001gie.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(2422-2424)CGT>CAT		dynamin 3 isoform a							37.0	42.0	40.0					1																	172357850		1905	4118	6023	SO:0001583	missense	26052				endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding	g.chr1:172357850G>A	AL136712	CCDS44276.1, CCDS60356.1	1q24.1	2013-01-10			ENSG00000197959	ENSG00000197959		"""Pleckstrin homology (PH) domain containing"""	29125	protein-coding gene	gene with protein product	"""Dyna III"""	611445				10048485	Standard	NM_015569		Approved	KIAA0820	uc001gie.4	Q9UQ16	OTTHUMG00000034913	ENST00000355305.5:c.2441G>A	1.37:g.172357850G>A	ENSP00000347457:p.Arg814His					DNM3_uc001gif.2_Missense_Mutation_p.R804H|DNM3_uc001gih.1_Missense_Mutation_p.R164H	p.R808H	NM_015569	NP_056384	Q9UQ16	DYN3_HUMAN			20	2599	+			814					A9Z1Y1|O14982|O95555|Q1MTM8|Q5W129|Q6P2G1|Q9H0P3|Q9H548|Q9NQ68|Q9NQN6	Missense_Mutation	SNP	ENST00000355305.5	37	c.2423G>A		.	.	.	.	.	.	.	.	.	.	G	12.85	2.061394	0.36373	.	.	ENSG00000197959	ENST00000359070;ENST00000358155;ENST00000355305;ENST00000367731;ENST00000485254	T;T;T;T	0.61510	0.1;0.1;0.1;0.1	5.4	4.49	0.54785	.	0.000000	0.85682	D	0.000000	T	0.54983	0.1892	M	0.78049	2.395	0.80722	D	1	D;D;D	0.54601	0.967;0.957;0.957	B;P;P	0.48598	0.227;0.583;0.583	T	0.64037	-0.6501	10	0.66056	D	0.02	.	13.0176	0.58766	0.0785:0.0:0.9215:0.0	.	814;804;808	Q9UQ16;Q9UQ16-2;Q9UQ16-3	DYN3_HUMAN;.;.	H	818;808;814;804;177	ENSP00000350876:R808H;ENSP00000347457:R814H;ENSP00000356705:R804H;ENSP00000429165:R177H	ENSP00000347457:R814H	R	+	2	0	DNM3	170624473	1.000000	0.71417	1.000000	0.80357	0.065000	0.16274	6.204000	0.72143	1.283000	0.44513	0.655000	0.94253	CGT		PASS	0.647	DNM3-003	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000084531.1	NM_015569		17	29	17	29	---	---	---	---
PAPPA2	60676	broad.mit.edu	37	1	176709266	176709266	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr1:176709266G>A	ENST00000367662.3	+	14	5249	c.4085G>A	c.(4084-4086)cGc>cAc	p.R1362H		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1362					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.R1362H(1)|p.R1362L(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						ACATCCTCCCGCATTGGTCTT	0.507																																						uc001gkz.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(4084-4086)CGC>CAC		pappalysin 2 isoform 1							125.0	122.0	123.0					1																	176709266		2015	4171	6186	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176709266G>A	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.4085G>A	1.37:g.176709266G>A	ENSP00000356634:p.Arg1362His					PAPPA2_uc009www.2_RNA	p.R1362H	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			14	5249	+			1362					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.4085G>A	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	g	0.015	-1.551502	0.00918	.	.	ENSG00000116183	ENST00000367662	T	0.01527	4.8	5.91	0.778	0.18543	.	0.619901	0.18472	N	0.140183	T	0.00384	0.0012	N	0.00170	-1.935	0.09310	N	0.999995	B	0.02656	0.0	B	0.01281	0.0	T	0.44667	-0.9313	10	0.02654	T	1	-2.0411	2.2711	0.04091	0.498:0.2523:0.1425:0.1072	.	1362	Q9BXP8	PAPP2_HUMAN	H	1362	ENSP00000356634:R1362H	ENSP00000356634:R1362H	R	+	2	0	PAPPA2	174975889	0.116000	0.22171	0.024000	0.17045	0.052000	0.14988	0.692000	0.25482	0.139000	0.18822	-0.285000	0.09966	CGC		PASS	0.507	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			25	158	25	158	---	---	---	---
IARS2	55699	broad.mit.edu	37	1	220315157	220315157	+	Silent	SNP	A	A	G			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr1:220315157A>G	ENST00000302637.5	+	20	2531	c.2427A>G	c.(2425-2427)gaA>gaG	p.E809E	IARS2_ENST00000366922.1_Silent_p.E737E|IARS2_ENST00000467924.1_3'UTR	NM_018060.3	NP_060530.3	Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	809					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)	p.E809E(1)		NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	TCTATTGTGAAAAGGAAAATG	0.413																																						uc001hmc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)	4						c.(2425-2427)GAA>GAG		mitochondrial isoleucine tRNA synthetase	L-Isoleucine(DB00167)						198.0	198.0	198.0					1																	220315157		2203	4300	6503	SO:0001819	synonymous_variant	55699				isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity	g.chr1:220315157A>G	AK022665	CCDS1523.1	1q41	2011-07-01	2007-02-26		ENSG00000067704	ENSG00000067704	6.1.1.5	"""Aminoacyl tRNA synthetases / Class I"""	29685	protein-coding gene	gene with protein product	"""isoleucine tRNA ligase 2, mitochondrial"""	612801					Standard	NM_018060		Approved	FLJ10326	uc001hmc.3	Q9NSE4	OTTHUMG00000037287	ENST00000302637.5:c.2427A>G	1.37:g.220315157A>G						IARS2_uc001hmd.2_Silent_p.E145E	p.E809E	NM_018060	NP_060530	Q9NSE4	SYIM_HUMAN		GBM - Glioblastoma multiforme(131;0.0554)	20	2531	+			809					B2RPG8|Q1M2P9|Q6PI85|Q7L439|Q86WU9|Q96D91|Q9H9Q8|Q9NW42	Silent	SNP	ENST00000302637.5	37	c.2427A>G	CCDS1523.1																																																																																				PASS	0.413	IARS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018060		8	454	8	454	---	---	---	---
APOB	338	broad.mit.edu	37	2	21230881	21230881	+	Silent	SNP	G	G	A			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr2:21230881G>A	ENST00000233242.1	-	26	8986	c.8859C>T	c.(8857-8859)ccC>ccT	p.P2953P		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2953					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.P2953P(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGAAGTGAGGGGTCCTTCTA	0.423																																						uc002red.2																			1	Substitution - coding silent(1)		lung(1)	ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(8857-8859)CCC>CCT		apolipoprotein B precursor	Atorvastatin(DB01076)						150.0	152.0	151.0					2																	21230881		2203	4300	6503	SO:0001819	synonymous_variant	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21230881G>A	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.8859C>T	2.37:g.21230881G>A							p.P2953P	NM_000384	NP_000375	P04114	APOB_HUMAN			26	8987	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		2953					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	c.8859C>T	CCDS1703.1																																																																																				PASS	0.423	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			67	469	67	469	---	---	---	---
APOB	338	broad.mit.edu	37	2	21231883	21231883	+	Silent	SNP	G	G	A			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr2:21231883G>A	ENST00000233242.1	-	26	7984	c.7857C>T	c.(7855-7857)gtC>gtT	p.V2619V		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2619					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.V2619V(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGTTAGGGGGACTATAAAAT	0.413																																						uc002red.2																			1	Substitution - coding silent(1)		lung(1)	ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(7855-7857)GTC>GTT		apolipoprotein B precursor	Atorvastatin(DB01076)						77.0	82.0	80.0					2																	21231883		2203	4300	6503	SO:0001819	synonymous_variant	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21231883G>A	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.7857C>T	2.37:g.21231883G>A							p.V2619V	NM_000384	NP_000375	P04114	APOB_HUMAN			26	7985	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		2619					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	c.7857C>T	CCDS1703.1																																																																																				PASS	0.413	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			84	261	84	261	---	---	---	---
WDR43	23160	broad.mit.edu	37	2	29145784	29145784	+	Splice_Site	SNP	G	G	A			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr2:29145784G>A	ENST00000407426.3	+	7	905		c.e7-1			NM_015131.1	NP_055946.1	Q15061	WDR43_HUMAN	WD repeat domain 43							nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.?(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	20	Acute lymphoblastic leukemia(172;0.155)					TTTTCTTTTAGCCTGTCAAGT	0.363																																						uc002rmo.2																			1	Unknown(1)		lung(1)	ovary(1)	1						c.e7-1		WD repeat domain 43							135.0	124.0	128.0					2																	29145784		1863	4096	5959	SO:0001630	splice_region_variant	23160					nucleolus		g.chr2:29145784G>A	D87716	CCDS46251.1	2p23.3	2013-01-09			ENSG00000163811	ENSG00000163811		"""WD repeat domain containing"""	28945	protein-coding gene	gene with protein product	"""UTP5, small subunit (SSU) processome component, homolog (yeast)"""					7584026, 7584028, 17699751	Standard	NM_015131		Approved	KIAA0007, NET12, UTP5	uc002rmo.2	Q15061	OTTHUMG00000152015	ENST00000407426.3:c.850-1G>A	2.37:g.29145784G>A							p.P284_splice	NM_015131	NP_055946	Q15061	WDR43_HUMAN			7	882	+	Acute lymphoblastic leukemia(172;0.155)							Q15395|Q92577	Splice_Site	SNP	ENST00000407426.3	37	c.850_splice	CCDS46251.1	.	.	.	.	.	.	.	.	.	.	G	19.89	3.910874	0.72983	.	.	ENSG00000163811	ENST00000407426;ENST00000296126	.	.	.	5.85	5.85	0.93711	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1669	0.98153	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	WDR43	28999288	1.000000	0.71417	0.999000	0.59377	0.736000	0.42039	6.862000	0.75484	2.770000	0.95276	0.650000	0.86243	.		PASS	0.363	WDR43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324865.1	XM_087089	Intron	20	59	20	59	---	---	---	---
WDR43	23160	broad.mit.edu	37	2	29152477	29152477	+	Silent	SNP	T	T	C			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr2:29152477T>C	ENST00000407426.3	+	11	1394	c.1338T>C	c.(1336-1338)gaT>gaC	p.D446D	SNORD53_SNORD92_ENST00000577887.1_RNA|SNORD53_ENST00000579969.1_RNA|Y_RNA_ENST00000410292.1_RNA	NM_015131.1	NP_055946.1	Q15061	WDR43_HUMAN	WD repeat domain 43	446						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.D489D(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	20	Acute lymphoblastic leukemia(172;0.155)					GAGCAATGGATATAGACACAC	0.378																																						uc002rmo.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1336-1338)GAT>GAC		WD repeat domain 43							96.0	93.0	94.0					2																	29152477		1839	4099	5938	SO:0001819	synonymous_variant	23160					nucleolus		g.chr2:29152477T>C	D87716	CCDS46251.1	2p23.3	2013-01-09			ENSG00000163811	ENSG00000163811		"""WD repeat domain containing"""	28945	protein-coding gene	gene with protein product	"""UTP5, small subunit (SSU) processome component, homolog (yeast)"""					7584026, 7584028, 17699751	Standard	NM_015131		Approved	KIAA0007, NET12, UTP5	uc002rmo.2	Q15061	OTTHUMG00000152015	ENST00000407426.3:c.1338T>C	2.37:g.29152477T>C							p.D446D	NM_015131	NP_055946	Q15061	WDR43_HUMAN			11	1370	+	Acute lymphoblastic leukemia(172;0.155)		446					Q15395|Q92577	Silent	SNP	ENST00000407426.3	37	c.1338T>C	CCDS46251.1																																																																																				PASS	0.378	WDR43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324865.1	XM_087089		38	32	38	32	---	---	---	---
NRXN1	9378	broad.mit.edu	37	2	50463966	50463966	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr2:50463966G>C	ENST00000406316.2	-	18	4983	c.3507C>G	c.(3505-3507)gaC>gaG	p.D1169E	NRXN1_ENST00000404971.1_Missense_Mutation_p.D1209E|NRXN1_ENST00000401669.2_Missense_Mutation_p.D1169E|NRXN1_ENST00000405472.3_Missense_Mutation_p.D1161E|NRXN1_ENST00000401710.1_Missense_Mutation_p.D187E|NRXN1_ENST00000342183.5_Missense_Mutation_p.D134E|NRXN1_ENST00000402717.3_Missense_Mutation_p.D1161E|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406859.3_Missense_Mutation_p.D1169E	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1169	Laminin G-like 6. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)	p.D1169E(1)|p.D1209E(1)|p.D134E(1)|p.D1210E(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CTGAAGAACTGTCCACTCGCA	0.418																																						uc010fbp.2																			4	Substitution - Missense(4)		lung(4)	ovary(2)	2						c.(400-402)GAC>GAG		neurexin 1 isoform beta precursor							120.0	107.0	111.0					2																	50463966		2203	4300	6503	SO:0001583	missense	9378				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding	g.chr2:50463966G>C	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.3507C>G	2.37:g.50463966G>C	ENSP00000384311:p.Asp1169Glu					NRXN1_uc002rxb.3_Missense_Mutation_p.D841E|NRXN1_uc010fbq.2_Missense_Mutation_p.D1209E|NRXN1_uc002rxe.3_Missense_Mutation_p.D1169E|NRXN1_uc002rxc.1_RNA	p.D134E	NM_138735	NP_620072	P58400	NRX1B_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		2	1209	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	134			Extracellular (Potential).|Laminin G-like.		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.402C>G	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	G	13.10	2.135975	0.37728	.	.	ENSG00000179915	ENST00000342183;ENST00000536347;ENST00000401710;ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T;T;T	0.78364	-1.04;-1.17;-1.17;-1.17;-1.17;-1.17;-1.17;-1.17	5.68	5.68	0.88126	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.64402	U	0.000006	T	0.78610	0.4310	L	0.27944	0.81	0.34691	D	0.725747	B;B;D;B	0.67145	0.21;0.215;0.996;0.243	B;B;D;B	0.64237	0.052;0.105;0.923;0.147	T	0.80006	-0.1563	10	0.25751	T	0.34	.	14.0092	0.64486	0.072:0.0:0.928:0.0	.	1209;134;1169;1161	Q9ULB1-3;P58400;F8WB18;A7E294	.;NRX1B_HUMAN;.;.	E	134;88;187;1209;1169;1161;1169;1210;1161;1169	ENSP00000341184:D134E;ENSP00000385580:D187E;ENSP00000385142:D1209E;ENSP00000384311:D1169E;ENSP00000434015:D1161E;ENSP00000385017:D1169E;ENSP00000385434:D1161E;ENSP00000385681:D1169E	ENSP00000341184:D134E	D	-	3	2	NRXN1	50317470	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.309000	0.43699	2.679000	0.91253	0.650000	0.86243	GAC		PASS	0.418	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			65	76	65	76	---	---	---	---
SPTBN1	6711	broad.mit.edu	37	2	54856622	54856622	+	Missense_Mutation	SNP	A	A	T			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr2:54856622A>T	ENST00000356805.4	+	14	2632	c.2351A>T	c.(2350-2352)aAg>aTg	p.K784M	SPTBN1_ENST00000333896.5_Missense_Mutation_p.K771M	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	784					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)	p.K784M(1)|p.K771M(1)		NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			TCTCTGGTCAAGAAACACAAG	0.567																																						uc002rxu.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8						c.(2350-2352)AAG>ATG		spectrin, beta, non-erythrocytic 1 isoform 1							97.0	96.0	96.0					2																	54856622		2203	4300	6503	SO:0001583	missense	6711				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54856622A>T		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.2351A>T	2.37:g.54856622A>T	ENSP00000349259:p.Lys784Met					SPTBN1_uc002rxv.1_Missense_Mutation_p.K784M|SPTBN1_uc002rxx.2_Missense_Mutation_p.K771M	p.K784M	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	Lung(47;0.24)		14	2600	+			784			Spectrin 5.		B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	ENST00000356805.4	37	c.2351A>T	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	A	18.49	3.634828	0.67130	.	.	ENSG00000115306	ENST00000356805;ENST00000333896	T;T	0.56103	0.48;0.48	5.78	3.41	0.39046	.	0.254748	0.39615	N	0.001312	T	0.71592	0.3358	M	0.85542	2.76	0.42919	D	0.994281	D;D	0.76494	0.976;0.999	D;D	0.76575	0.967;0.988	T	0.72659	-0.4226	10	0.87932	D	0	.	9.0354	0.36284	0.7921:0.0:0.2079:0.0	.	771;784	Q01082-3;Q01082	.;SPTB2_HUMAN	M	784;771	ENSP00000349259:K784M;ENSP00000334156:K771M	ENSP00000334156:K771M	K	+	2	0	SPTBN1	54710126	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	0.936000	0.28938	0.467000	0.27218	0.533000	0.62120	AAG		PASS	0.567	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			102	313	102	313	---	---	---	---
CLHC1	130162	broad.mit.edu	37	2	55436644	55436644	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr2:55436644C>G	ENST00000401408.1	-	7	1055	c.710G>C	c.(709-711)aGa>aCa	p.R237T	CLHC1_ENST00000406076.1_Missense_Mutation_p.R115T|CLHC1_ENST00000407122.1_Missense_Mutation_p.R237T|CLHC1_ENST00000406437.2_Intron|CLHC1_ENST00000494539.1_Intron	NM_152385.2	NP_689598.2	Q8NHS4	CLHC1_HUMAN	clathrin heavy chain linker domain containing 1	237								p.R237T(2)									TATCTGCAGTCTTTGATGACT	0.313																																						uc002ryi.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)	3						c.(709-711)AGA>ACA		hypothetical protein LOC130162 isoform 1							78.0	83.0	81.0					2																	55436644		2203	4299	6502	SO:0001583	missense	130162						binding	g.chr2:55436644C>G		CCDS33201.1, CCDS46287.1	2p16.1	2012-08-03	2012-08-03	2012-08-03	ENSG00000162994	ENSG00000162994			26453	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 63"""	C2orf63			Standard	NM_152385		Approved	FLJ31438	uc002ryi.2	Q8NHS4	OTTHUMG00000151918	ENST00000401408.1:c.710G>C	2.37:g.55436644C>G	ENSP00000384869:p.Arg237Thr					C2orf63_uc002ryh.2_Intron|C2orf63_uc002ryj.2_Missense_Mutation_p.R115T	p.R237T	NM_152385	NP_689598	Q8NHS4	CB063_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.179)|Lung(47;0.189)		7	1056	-			237					B2RDV1|Q53R93|Q8N403	Missense_Mutation	SNP	ENST00000401408.1	37	c.710G>C	CCDS33201.1	.	.	.	.	.	.	.	.	.	.	C	6.411	0.443862	0.12164	.	.	ENSG00000162994	ENST00000407122;ENST00000401408;ENST00000406076	T;T;T	0.19250	2.18;2.18;2.16	5.48	-0.0185	0.13964	.	0.227351	0.32935	N	0.005468	T	0.17408	0.0418	L	0.53249	1.67	0.41491	D	0.988222	P	0.46706	0.883	B	0.39419	0.299	T	0.04621	-1.0938	10	0.59425	D	0.04	-5.9577	8.9577	0.35827	0.0:0.5593:0.0:0.4407	.	237	Q8NHS4	CB063_HUMAN	T	237;237;115	ENSP00000385778:R237T;ENSP00000384869:R237T;ENSP00000385512:R115T	ENSP00000384869:R237T	R	-	2	0	C2orf63	55290148	0.976000	0.34144	0.377000	0.26055	0.040000	0.13550	0.210000	0.17455	0.040000	0.15660	-0.140000	0.14226	AGA		PASS	0.313	CLHC1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324412.4	NM_152385		6	356	6	356	---	---	---	---
MTHFD2	10797	broad.mit.edu	37	2	74437170	74437170	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr2:74437170C>T	ENST00000394053.2	+	5	744	c.664C>T	c.(664-666)Ccc>Tcc	p.P222S	MTHFD2_ENST00000394050.3_Missense_Mutation_p.P58S|MTHFD2_ENST00000409601.1_Missense_Mutation_p.P181S|MTHFD2_ENST00000409804.1_Intron|MTHFD2_ENST00000264090.4_Missense_Mutation_p.P120S	NM_006636.3	NP_006627.2	P13995	MTDC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase	222					folic acid-containing compound biosynthetic process (GO:0009396)|one-carbon metabolic process (GO:0006730)|tetrahydrofolate metabolic process (GO:0046653)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	magnesium ion binding (GO:0000287)|methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NAD+) activity (GO:0004487)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)|phosphate ion binding (GO:0042301)	p.P120S(1)|p.P222S(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6					Tetrahydrofolic acid(DB00116)	GCATGAACGTCCCGGAGGTAA	0.463																																						uc002skk.2																			2	Substitution - Missense(2)		lung(2)		0						c.(664-666)CCC>TCC		methylenetetrahydrofolate dehydrogenase 2	NADH(DB00157)|Tetrahydrofolic acid(DB00116)						64.0	66.0	65.0					2																	74437170		1898	4131	6029	SO:0001583	missense	10797				folic acid-containing compound biosynthetic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	magnesium ion binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity|methylenetetrahydrofolate dehydrogenase (NADP+) activity|phosphate binding|protein binding	g.chr2:74437170C>T	X16396	CCDS1935.2	2p13.1	2008-05-02			ENSG00000065911	ENSG00000065911			7434	protein-coding gene	gene with protein product		604887				2587219, 8218174	Standard	NR_027405		Approved		uc002skk.3	P13995	OTTHUMG00000129814	ENST00000394053.2:c.664C>T	2.37:g.74437170C>T	ENSP00000377617:p.Pro222Ser					MTHFD2_uc002skj.2_Missense_Mutation_p.P120S|MTHFD2_uc010yro.1_Missense_Mutation_p.P120S|MTHFD2_uc010ffb.2_Missense_Mutation_p.P181S|MTHFD2_uc010yrp.1_Missense_Mutation_p.P58S	p.P222S	NM_006636	NP_006627	P13995	MTDC_HUMAN			5	743	+			222					Q53G90|Q53GV5|Q53S36|Q7Z650	Missense_Mutation	SNP	ENST00000394053.2	37	c.664C>T	CCDS1935.2	.	.	.	.	.	.	.	.	.	.	C	20.8	4.055749	0.75960	.	.	ENSG00000065911	ENST00000394053;ENST00000264090;ENST00000394050;ENST00000409601	T;T;T;T	0.28454	2.16;2.17;1.61;1.93	5.49	5.49	0.81192	Tetrahydrofolate dehydrogenase/cyclohydrolase, NAD(P)-binding domain (1);NAD(P)-binding domain (1);	0.052263	0.85682	D	0.000000	T	0.27241	0.0668	L	0.28400	0.85	0.80722	D	1	B;B	0.29341	0.242;0.242	B;B	0.32393	0.145;0.145	T	0.02958	-1.1089	10	0.38643	T	0.18	.	16.9648	0.86282	0.0:1.0:0.0:0.0	.	181;222	B8ZZU9;P13995	.;MTDC_HUMAN	S	222;120;58;181	ENSP00000377617:P222S;ENSP00000264090:P120S;ENSP00000377614:P58S;ENSP00000386542:P181S	ENSP00000264090:P120S	P	+	1	0	MTHFD2	74290678	1.000000	0.71417	0.951000	0.38953	0.995000	0.86356	7.207000	0.77899	2.873000	0.98535	0.644000	0.83932	CCC		PASS	0.463	MTHFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252045.2			25	62	25	62	---	---	---	---
CTNNA2	1496	broad.mit.edu	37	2	80101302	80101302	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr2:80101302G>A	ENST00000402739.4	+	5	691	c.686G>A	c.(685-687)cGc>cAc	p.R229H	CTNNA2_ENST00000540488.1_Missense_Mutation_p.R229H|CTNNA2_ENST00000361291.4_Missense_Mutation_p.R263H|CTNNA2_ENST00000466387.1_Missense_Mutation_p.R229H|CTNNA2_ENST00000541047.1_Missense_Mutation_p.R229H|CTNNA2_ENST00000496558.1_Missense_Mutation_p.R229H	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	229					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.R229H(2)		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						GCATTTCTCCGCCACCCAGAT	0.572																																						uc010ysh.1																			2	Substitution - Missense(2)		lung(2)	pancreas(4)|lung(3)|breast(1)|skin(1)	9						c.(685-687)CGC>CAC		catenin, alpha 2 isoform 1							51.0	55.0	54.0					2																	80101302		2074	4217	6291	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.chr2:80101302G>A		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.686G>A	2.37:g.80101302G>A	ENSP00000384638:p.Arg229His					CTNNA2_uc010yse.1_Missense_Mutation_p.R229H|CTNNA2_uc010ysf.1_Missense_Mutation_p.R229H|CTNNA2_uc010ysg.1_Missense_Mutation_p.R229H	p.R229H	NM_004389	NP_004380	P26232	CTNA2_HUMAN			5	691	+			229					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37	c.686G>A		.	.	.	.	.	.	.	.	.	.	G	29.4	5.006542	0.93287	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488	T;T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66;0.66	5.7	5.7	0.88788	.	0.060024	0.64402	D	0.000002	T	0.73697	0.3620	M	0.88450	2.955	0.80722	D	1	D;D;D	0.63880	0.993;0.991;0.991	P;P;P	0.62885	0.908;0.742;0.742	T	0.78048	-0.2356	10	0.66056	D	0.02	.	19.8448	0.96704	0.0:0.0:1.0:0.0	.	229;229;229	P26232;P26232-3;P26232-2	CTNA2_HUMAN;.;.	H	229;229;263;229;229;229	ENSP00000418191:R229H;ENSP00000419295:R229H;ENSP00000355398:R263H;ENSP00000384638:R229H;ENSP00000444675:R229H;ENSP00000441705:R229H	ENSP00000355398:R263H	R	+	2	0	CTNNA2	79954810	1.000000	0.71417	1.000000	0.80357	0.796000	0.44982	8.062000	0.89475	2.686000	0.91538	0.650000	0.86243	CGC		PASS	0.572	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		13	116	13	116	---	---	---	---
CD8B	926	broad.mit.edu	37	2	87085229	87085229	+	Silent	SNP	G	G	A			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr2:87085229G>A	ENST00000390655.6	-	2	412	c.354C>T	c.(352-354)atC>atT	p.I118I	CD8B_ENST00000431506.2_Intron|CD8B_ENST00000349455.3_Silent_p.I118I|CD8B_ENST00000393761.2_Silent_p.I118I|CD8B_ENST00000393759.2_Silent_p.I118I|CD8B_ENST00000331469.2_Silent_p.I118I	NM_004931.4	NP_004922.1	P10966	CD8B_HUMAN	CD8b molecule	118	Ig-like V-type.				immune response (GO:0006955)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|MHC class I protein binding (GO:0042288)	p.I118I(2)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	13						GGCTCCCGACGATCATGCAGA	0.542																																						uc002srz.2																			2	Substitution - coding silent(2)		lung(2)	upper_aerodigestive_tract(1)|skin(1)	2						c.(352-354)ATC>ATT		CD8b antigen isoform 5 precursor							113.0	110.0	111.0					2																	87085229		2203	4300	6503	SO:0001819	synonymous_variant	926				immune response|regulation of defense response to virus by virus|regulation of immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway|viral reproduction	early endosome|extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding	g.chr2:87085229G>A		CCDS1994.1, CCDS1995.1, CCDS42708.1, CCDS1997.1, CCDS54376.1	2p12	2013-01-11	2006-03-28	2006-03-09	ENSG00000172116	ENSG00000172116		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1707	protein-coding gene	gene with protein product		186730	"""CD8 antigen, beta polypeptide 1 (p37)"""	CD8B1		1541829	Standard	NM_172213		Approved		uc002srw.3	P10966	OTTHUMG00000130264	ENST00000390655.6:c.354C>T	2.37:g.87085229G>A						RMND5A_uc002srs.3_Intron|CD8B_uc002srw.2_Silent_p.I118I|CD8B_uc002srx.2_Silent_p.I118I|CD8B_uc002sry.2_Silent_p.I118I|CD8B_uc010fgt.2_Silent_p.I118I|CD8B_uc002ssa.2_Silent_p.I118I|CD8B_uc010yto.1_Silent_p.I118I	p.I118I	NM_004931	NP_004922	P10966	CD8B_HUMAN			2	404	-			118			Ig-like V-type.|Extracellular (Potential).		P14860|P14861|Q15980|Q496E0|Q496E1|Q496E2|Q9UDB4|Q9UDB5|Q9UDB6|Q9UDB7|Q9UDB8|Q9UDB9|Q9UDC0|Q9UQ55	Silent	SNP	ENST00000390655.6	37	c.354C>T	CCDS1997.1																																																																																				PASS	0.542	CD8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330402.1	NM_172099		23	468	23	468	---	---	---	---
KIAA1211L	343990	broad.mit.edu	37	2	99449396	99449396	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr2:99449396C>T	ENST00000397899.2	-	4	635	c.304G>A	c.(304-306)Gga>Aga	p.G102R	KIAA1211L_ENST00000462314.1_Intron	NM_207362.2	NP_997245.2	Q6NV74	K121L_HUMAN	KIAA1211-like	102								p.G102R(1)									GCGTCCTGTCCGGACTCAGGA	0.547																																						uc002szf.1																			1	Substitution - Missense(1)		lung(1)		0						c.(304-306)GGA>AGA		hypothetical protein LOC343990							133.0	145.0	141.0					2																	99449396		1932	4131	6063	SO:0001583	missense	343990							g.chr2:99449396C>T	BC068277	CCDS42720.1	2q11.2	2012-08-03	2012-08-03	2012-08-03	ENSG00000196872	ENSG00000196872			33454	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 55"""	C2orf55			Standard	NM_207362		Approved	MGC42367	uc002szf.1	Q6NV74	OTTHUMG00000153171	ENST00000397899.2:c.304G>A	2.37:g.99449396C>T	ENSP00000380996:p.Gly102Arg						p.G102R	NM_207362	NP_997245	Q6NV74	CB055_HUMAN			4	598	-			102						Missense_Mutation	SNP	ENST00000397899.2	37	c.304G>A	CCDS42720.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.933629	0.73442	.	.	ENSG00000196872	ENST00000397899;ENST00000423771;ENST00000428096;ENST00000415261	T	0.46063	0.88	4.82	3.92	0.45320	.	0.000000	0.46145	D	0.000315	T	0.59197	0.2176	M	0.63843	1.955	0.27825	N	0.941662	D	0.89917	1.0	D	0.79784	0.993	T	0.53019	-0.8497	10	0.72032	D	0.01	-9.9826	12.73	0.57193	0.0:0.9185:0.0:0.0815	.	102	Q6NV74	CB055_HUMAN	R	102;130;116;116	ENSP00000380996:G102R	ENSP00000380996:G102R	G	-	1	0	C2orf55	98815828	0.909000	0.30893	0.994000	0.49952	0.969000	0.65631	2.112000	0.41892	2.487000	0.83934	0.561000	0.74099	GGA		PASS	0.547	KIAA1211L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329933.1	NM_207362		12	778	12	778	---	---	---	---
EIF5B	9669	broad.mit.edu	37	2	99977788	99977788	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr2:99977788G>A	ENST00000289371.6	+	4	626	c.424G>A	c.(424-426)Gat>Aat	p.D142N		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	142	Poly-Asp.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)	p.D142N(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TGATGATGATGATTTTAACAA	0.333																																					Colon(162;2388 2567 2705 3444)	uc002tab.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(424-426)GAT>AAT		eukaryotic translation initiation factor 5B							73.0	76.0	75.0					2																	99977788		1823	4080	5903	SO:0001583	missense	9669				regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity	g.chr2:99977788G>A	AF078035	CCDS42721.1	2q11.2	2012-09-20			ENSG00000158417	ENSG00000158417			30793	protein-coding gene	gene with protein product	"""translation initiation factor IF2"""	606086				10200264, 10432305	Standard	XM_005264075		Approved	IF2, KIAA0741, DKFZp434I036, FLJ10524	uc002tab.3	O60841	OTTHUMG00000153242	ENST00000289371.6:c.424G>A	2.37:g.99977788G>A	ENSP00000289371:p.Asp142Asn						p.D142N	NM_015904	NP_056988	O60841	IF2P_HUMAN			4	608	+			142			Poly-Asp.		O95805|Q53RV7|Q53SI8|Q9UF81|Q9UMN7	Missense_Mutation	SNP	ENST00000289371.6	37	c.424G>A	CCDS42721.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.854261	0.51270	.	.	ENSG00000158417	ENST00000289371	T	0.46819	0.86	5.51	3.61	0.41365	.	.	.	.	.	T	0.27697	0.0681	N	0.12182	0.205	0.27692	N	0.946083	B	0.27498	0.18	B	0.19391	0.025	T	0.04961	-1.0915	8	.	.	.	-30.3882	11.8415	0.52357	0.0699:0.1245:0.8056:0.0	.	142	O60841	IF2P_HUMAN	N	142	ENSP00000289371:D142N	.	D	+	1	0	EIF5B	99344220	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.644000	0.46613	2.578000	0.87016	0.650000	0.86243	GAT		PASS	0.333	EIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330364.2	NM_015904		14	318	14	318	---	---	---	---
AFF3	3899	broad.mit.edu	37	2	100170874	100170874	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr2:100170874C>T	ENST00000409236.2	-	22	3570	c.3458G>A	c.(3457-3459)cGc>cAc	p.R1153H	AFF3_ENST00000317233.4_Missense_Mutation_p.R1153H|AFF3_ENST00000356421.2_Missense_Mutation_p.R1178H|AFF3_ENST00000409579.1_Missense_Mutation_p.R1178H			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	1153					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)	p.R1178H(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						CTGGTGGATGCGCTGTGGGAT	0.632																																						uc002tag.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6						c.(3457-3459)CGC>CAC		AF4/FMR2 family, member 3 isoform 1							123.0	107.0	113.0					2																	100170874		2203	4300	6503	SO:0001583	missense	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100170874C>T	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.3458G>A	2.37:g.100170874C>T	ENSP00000387207:p.Arg1153His					AFF3_uc002taf.2_Missense_Mutation_p.R1178H	p.R1153H	NM_002285	NP_002276	P51826	AFF3_HUMAN			23	3694	-			1153					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	ENST00000409236.2	37	c.3458G>A	CCDS42723.1	.	.	.	.	.	.	.	.	.	.	C	36	5.770594	0.96914	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000445815	T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.82365	0.5021	M	0.75264	2.295	0.80722	D	1	P;D	0.89917	0.806;1.0	P;D	0.91635	0.538;0.999	T	0.82416	-0.0468	10	0.49607	T	0.09	.	19.3609	0.94438	0.0:1.0:0.0:0.0	.	1153;1178	P51826;P51826-2	AFF3_HUMAN;.	H	1153;1178;1178;1153;179	ENSP00000317421:R1153H;ENSP00000348793:R1178H;ENSP00000386834:R1178H;ENSP00000387207:R1153H;ENSP00000416685:R179H	ENSP00000317421:R1153H	R	-	2	0	AFF3	99537306	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.786000	0.85741	2.569000	0.86673	0.655000	0.94253	CGC		PASS	0.632	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		5	358	5	358	---	---	---	---
GPR17	2840	broad.mit.edu	37	2	128408404	128408404	+	Missense_Mutation	SNP	T	T	C			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr2:128408404T>C	ENST00000272644.3	+	3	253	c.179T>C	c.(178-180)aTg>aCg	p.M60T	LIMS2_ENST00000410038.1_5'Flank|LIMS2_ENST00000545738.2_Intron|GPR17_ENST00000544369.1_Missense_Mutation_p.M60T|LIMS2_ENST00000409455.1_Intron|LIMS2_ENST00000355119.4_Intron|GPR17_ENST00000393018.3_Missense_Mutation_p.M60T|LIMS2_ENST00000324938.5_Intron|LIMS2_ENST00000409254.1_5'Flank|LIMS2_ENST00000409808.2_Intron|GPR17_ENST00000486700.1_3'UTR|LIMS2_ENST00000410011.1_Intron	NM_001161416.1|NM_001161417.1|NM_005291.2	NP_001154888.1|NP_001154889.1|NP_005282.1	Q13304	GPR17_HUMAN	G protein-coupled receptor 17	60					chemokine-mediated signaling pathway (GO:0070098)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)	p.M60T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)		ctggagaacatgctgttcgcc	0.557											OREG0014966	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc010yzn.1																			1	Substitution - Missense(1)		lung(1)		0						c.(178-180)ATG>ACG		G protein-coupled receptor 17 isoform a							126.0	119.0	121.0					2																	128408404		2203	4300	6503	SO:0001583	missense	2840					integral to plasma membrane	chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled	g.chr2:128408404T>C		CCDS2148.1	2q21	2014-01-30			ENSG00000144230	ENSG00000144230		"""GPCR / Class A : Orphans"""	4471	protein-coding gene	gene with protein product		603071				8558062	Standard	NM_001161415		Approved		uc002tpc.3	Q13304	OTTHUMG00000131533	ENST00000272644.3:c.179T>C	2.37:g.128408404T>C	ENSP00000272644:p.Met60Thr		OREG0014966	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1564	LIMS2_uc002tow.2_5'Flank|LIMS2_uc002tox.2_Intron|LIMS2_uc010fmb.2_Intron|LIMS2_uc002toy.2_Intron|LIMS2_uc010yzm.1_Intron|LIMS2_uc002tpa.2_Intron|LIMS2_uc002toz.2_Intron|LIMS2_uc002tpb.2_Intron|GPR17_uc002tpc.2_Missense_Mutation_p.M60T|GPR17_uc010yzo.1_Missense_Mutation_p.M32T|GPR17_uc002tpd.2_Missense_Mutation_p.M32T	p.M60T	NM_001161415	NP_001154887	Q13304	GPR17_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0677)	4	790	+	Colorectal(110;0.1)	Ovarian(717;0.15)	60			Extracellular (Potential).		A8K9L0|B2R9X0|Q8N5S7|Q9UDZ6|Q9UE21	Missense_Mutation	SNP	ENST00000272644.3	37	c.179T>C	CCDS2148.1	.	.	.	.	.	.	.	.	.	.	t	2.989	-0.208567	0.06140	.	.	ENSG00000144230	ENST00000544369;ENST00000339805;ENST00000272644;ENST00000423019;ENST00000393018	T;T;T;T	0.35789	1.29;1.29;1.29;1.29	5.17	2.77	0.32553	.	0.520684	0.21304	N	0.076760	T	0.14874	0.0359	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30679	-0.9970	10	0.07990	T	0.79	.	7.4232	0.27083	0.0:0.2644:0.0:0.7356	.	60	Q13304	GPR17_HUMAN	T	60;32;60;60;60	ENSP00000442982:M60T;ENSP00000272644:M60T;ENSP00000387970:M60T;ENSP00000376741:M60T	ENSP00000272644:M60T	M	+	2	0	GPR17	128124874	0.707000	0.27866	0.058000	0.19502	0.962000	0.63368	1.639000	0.37176	0.401000	0.25424	0.533000	0.62120	ATG		PASS	0.557	GPR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254390.1			111	185	111	185	---	---	---	---
LCT	3938	broad.mit.edu	37	2	136555660	136555660	+	Missense_Mutation	SNP	T	T	C			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr2:136555660T>C	ENST00000264162.2	-	13	4925	c.4915A>G	c.(4915-4917)Aat>Gat	p.N1639D		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1639	4 X approximate repeats.		N -> S (in dbSNP:rs2322659). {ECO:0000269|PubMed:1902057}.		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.N1639D(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)	ATCACCTCATTGTAATCTCCA	0.582											OREG0014998	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002tuu.1																			1	Substitution - Missense(1)		lung(1)	ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1)	13						c.(4915-4917)AAT>GAT		lactase-phlorizin hydrolase preproprotein							121.0	109.0	113.0					2																	136555660		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.chr2:136555660T>C	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.4915A>G	2.37:g.136555660T>C	ENSP00000264162:p.Asn1639Asp		OREG0014998	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1626		p.N1639D	NM_002299	NP_002290	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	13	4926	-			1639			Extracellular (Potential).|4.|4 X approximate repeats.		Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	c.4915A>G	CCDS2178.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.57|14.57	2.574067|2.574067	0.45902|0.45902	.|.	.|.	ENSG00000115850|ENSG00000115850	ENST00000264162|ENST00000455227	T|.	0.32272|.	1.46|.	5.76|5.76	-2.8|-2.8	0.05823|0.05823	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);|.	0.634460|.	0.18103|.	N|.	0.151626|.	T|T	0.46367|0.46367	0.1389|0.1389	L|L	0.43757|0.43757	1.38|1.38	0.19300|0.19300	N|N	0.999976|0.999976	P|.	0.40083|.	0.702|.	P|.	0.48552|.	0.581|.	T|T	0.52859|0.52859	-0.8519|-0.8519	10|6	0.42905|0.87932	T|D	0.14|0	0.1499|0.1499	12.9454|12.9454	0.58369|0.58369	0.0932:0.0:0.5955:0.3113|0.0932:0.0:0.5955:0.3113	.|.	1639|.	P09848|.	LPH_HUMAN|.	D|R	1639|1003	ENSP00000264162:N1639D|.	ENSP00000264162:N1639D|ENSP00000391231:Q1003R	N|Q	-|-	1|2	0|0	LCT|LCT	136272130|136272130	0.937000|0.937000	0.31787|0.31787	0.005000|0.005000	0.12908|0.12908	0.965000|0.965000	0.64279|0.64279	1.503000|1.503000	0.35715|0.35715	-0.768000|-0.768000	0.04626|0.04626	0.533000|0.533000	0.62120|0.62120	AAT|CAA		PASS	0.582	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		97	145	97	145	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141526894	141526894	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr2:141526894C>A	ENST00000389484.3	-	35	6617	c.5646G>T	c.(5644-5646)atG>atT	p.M1882I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1882					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.M1882I(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GAACAGAGTACATAAGAAATG	0.383										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			1	Substitution - Missense(1)		lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(5644-5646)ATG>ATT		low density lipoprotein-related protein 1B							67.0	66.0	66.0					2																	141526894		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141526894C>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.5646G>T	2.37:g.141526894C>A	ENSP00000374135:p.Met1882Ile	TSP Lung(27;0.18)					p.M1882I	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	35	6618	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	1882			Extracellular (Potential).		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.5646G>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	11.97	1.796747	0.31777	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.90444	-2.67	5.59	5.59	0.84812	Six-bladed beta-propeller, TolB-like (1);	0.049324	0.85682	D	0.000000	T	0.81616	0.4860	N	0.04820	-0.15	0.45914	D	0.998751	B	0.15473	0.013	B	0.12837	0.008	T	0.75485	-0.3301	10	0.18710	T	0.47	.	19.5947	0.95530	0.0:1.0:0.0:0.0	.	1882	Q9NZR2	LRP1B_HUMAN	I	1882;1820	ENSP00000374135:M1882I	ENSP00000374135:M1882I	M	-	3	0	LRP1B	141243364	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.713000	0.61895	2.636000	0.89361	0.655000	0.94253	ATG		PASS	0.383	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		35	50	35	50	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141625227	141625227	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr2:141625227C>G	ENST00000389484.3	-	27	5482	c.4511G>C	c.(4510-4512)aGt>aCt	p.S1504T		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1504					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.S1504T(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTGAATCACACTGACATTCTG	0.478										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			1	Substitution - Missense(1)		lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(4510-4512)AGT>ACT		low density lipoprotein-related protein 1B							209.0	183.0	192.0					2																	141625227		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141625227C>G	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.4511G>C	2.37:g.141625227C>G	ENSP00000374135:p.Ser1504Thr	TSP Lung(27;0.18)				LRP1B_uc010fnl.1_Missense_Mutation_p.S686T	p.S1504T	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	27	5483	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	1504			Extracellular (Potential).|LDL-receptor class B 13.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.4511G>C	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	7.604	0.673485	0.14776	.	.	ENSG00000168702	ENST00000389484;ENST00000544579;ENST00000434794	D;D	0.90676	-2.71;-2.71	5.42	5.42	0.78866	Six-bladed beta-propeller, TolB-like (1);	0.061302	0.64402	D	0.000004	T	0.74794	0.3763	N	0.00793	-1.18	0.40161	D	0.977069	B;B	0.17465	0.001;0.022	B;B	0.14023	0.004;0.01	T	0.72843	-0.4170	10	0.10902	T	0.67	.	19.2069	0.93734	0.0:1.0:0.0:0.0	.	687;1504	Q96NT6;Q9NZR2	.;LRP1B_HUMAN	T	1504;1442;649	ENSP00000374135:S1504T;ENSP00000413239:S649T	ENSP00000374135:S1504T	S	-	2	0	LRP1B	141341697	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.484000	0.53201	2.547000	0.85894	0.655000	0.94253	AGT		PASS	0.478	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		29	258	29	258	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141751623	141751623	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr2:141751623C>A	ENST00000389484.3	-	16	3556	c.2585G>T	c.(2584-2586)tGg>tTg	p.W862L	Y_RNA_ENST00000365022.1_RNA	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	862	LDL-receptor class A 3. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.W862L(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATCACATTTCCACCGAGCTTG	0.428										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			1	Substitution - Missense(1)		lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(2584-2586)TGG>TTG		low density lipoprotein-related protein 1B							137.0	129.0	132.0					2																	141751623		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141751623C>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.2585G>T	2.37:g.141751623C>A	ENSP00000374135:p.Trp862Leu	TSP Lung(27;0.18)				LRP1B_uc010fnl.1_Intron	p.W862L	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	16	3557	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	862			Extracellular (Potential).|LDL-receptor class A 3.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.2585G>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	32	5.132371	0.94473	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.95656	-3.77	5.8	5.8	0.92144	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.64402	U	0.000001	D	0.97074	0.9044	L	0.55743	1.74	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96169	0.9121	10	0.38643	T	0.18	.	20.062	0.97678	0.0:1.0:0.0:0.0	.	862	Q9NZR2	LRP1B_HUMAN	L	862;800	ENSP00000374135:W862L	ENSP00000374135:W862L	W	-	2	0	LRP1B	141468093	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.727000	0.84838	2.730000	0.93505	0.563000	0.77884	TGG		PASS	0.428	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		52	135	52	135	---	---	---	---
NEB	4703	broad.mit.edu	37	2	152500339	152500339	+	Missense_Mutation	SNP	T	T	A			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr2:152500339T>A	ENST00000172853.10	-	57	8096	c.7949A>T	c.(7948-7950)cAg>cTg	p.Q2650L	NEB_ENST00000409198.1_Missense_Mutation_p.Q2650L|NEB_ENST00000427231.2_Missense_Mutation_p.Q2650L|NEB_ENST00000397345.3_Missense_Mutation_p.Q2650L|NEB_ENST00000603639.1_Missense_Mutation_p.Q2650L|NEB_ENST00000604864.1_Missense_Mutation_p.Q2650L			P20929	NEBU_HUMAN	nebulin	2650					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.Q2650L(2)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CACATCGCTCTGGAGGTCATA	0.478																																						uc010fnx.2																			2	Substitution - Missense(2)		lung(2)	ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20						c.(7948-7950)CAG>CTG		nebulin isoform 3							141.0	134.0	136.0					2																	152500339		1965	4163	6128	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152500339T>A	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.7949A>T	2.37:g.152500339T>A	ENSP00000172853:p.Gln2650Leu						p.Q2650L	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	57	8140	-			2650			Nebulin 71.		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.7949A>T		.	.	.	.	.	.	.	.	.	.	T	26.5	4.741971	0.89573	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.48836	0.8;0.8;0.8;0.8	5.67	5.67	0.87782	.	0.132905	0.50627	D	0.000104	T	0.67088	0.2856	M	0.83384	2.64	0.80722	D	1	P	0.46859	0.885	P	0.55222	0.771	T	0.72447	-0.4291	10	0.72032	D	0.01	.	15.902	0.79384	0.0:0.0:0.0:1.0	.	2650	P20929	NEBU_HUMAN	L	2650	ENSP00000386259:Q2650L;ENSP00000380505:Q2650L;ENSP00000416578:Q2650L;ENSP00000172853:Q2650L	ENSP00000172853:Q2650L	Q	-	2	0	NEB	152208585	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	5.101000	0.64566	2.158000	0.67659	0.455000	0.32223	CAG		PASS	0.478	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		89	162	89	162	---	---	---	---
CACNB4	785	broad.mit.edu	37	2	152727093	152727093	+	Silent	SNP	C	C	T	rs370926360		TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr2:152727093C>T	ENST00000539935.1	-	8	718	c.651G>A	c.(649-651)ccG>ccA	p.P217P	CACNB4_ENST00000201943.5_Silent_p.P217P|CACNB4_ENST00000360283.6_Silent_p.P184P|CACNB4_ENST00000534999.1_Silent_p.P183P|CACNB4_ENST00000397327.2_Silent_p.P170P|CACNB4_ENST00000427385.1_Silent_p.P199P	NM_000726.3|NM_001145798.1	NP_000717.2|NP_001139270.1	O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4 subunit	217					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|cAMP metabolic process (GO:0046058)|cellular calcium ion homeostasis (GO:0006874)|detection of light stimulus involved in visual perception (GO:0050908)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|membrane depolarization (GO:0051899)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|neuronal action potential propagation (GO:0019227)|Peyer's patch development (GO:0048541)|regulation of voltage-gated calcium channel activity (GO:1901385)|spleen development (GO:0048536)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)|transport (GO:0006810)	cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.P217P(2)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	GACGCATTGACGGTACAACAT	0.498																																						uc002tya.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(649-651)CCG>CCA		calcium channel, voltage-dependent, beta 4	Verapamil(DB00661)	C	,,,	0,4214		0,0,2107	87.0	87.0	87.0		651,597,549,651	-1.1	1.0	2		87	1,8445		0,1,4222	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CACNB4	NM_000726.3,NM_001005746.2,NM_001005747.2,NM_001145798.1	,,,	0,1,6329	TT,TC,CC		0.0118,0.0,0.0079	,,,	217/521,199/503,183/487,217/459	152727093	1,12659	2107	4223	6330	SO:0001819	synonymous_variant	785				axon guidance|membrane depolarization|synaptic transmission	cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr2:152727093C>T	AF038852	CCDS46426.1, CCDS46427.1, CCDS46428.1, CCDS54409.1	2q22-q23	2009-09-04			ENSG00000182389	ENSG00000182389		"""Calcium channel subunits"""	1404	protein-coding gene	gene with protein product		601949				9628818	Standard	NM_000726		Approved	EJM4	uc002tya.3	O00305	OTTHUMG00000155091	ENST00000539935.1:c.651G>A	2.37:g.152727093C>T						CACNB4_uc002txy.2_Silent_p.P183P|CACNB4_uc002txz.2_Silent_p.P199P|CACNB4_uc010fnz.2_Silent_p.P217P|CACNB4_uc002tyb.2_Silent_p.P183P	p.P217P	NM_000726	NP_000717	O00305	CACB4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.156)	8	719	-			217					A7BJ74|A8K1Y4|B4DG40|O60515|Q6B000|Q96L40	Silent	SNP	ENST00000539935.1	37	c.651G>A	CCDS46426.1																																																																																				PASS	0.498	CACNB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000338385.4	NM_000726.3		11	38	11	38	---	---	---	---
GALNT13	114805	broad.mit.edu	37	2	154996876	154996876	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr2:154996876C>A	ENST00000392825.3	+	4	736	c.169C>A	c.(169-171)Cca>Aca	p.P57T	GALNT13_ENST00000409237.1_Missense_Mutation_p.P57T	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	polypeptide N-acetylgalactosaminyltransferase 13	57					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.P57T(2)		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						CCAAGAAGGGCCAGGAGAAAT	0.358																																						uc002tyr.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6						c.(169-171)CCA>ACA		UDP-N-acetyl-alpha-D-galactosamine:polypeptide							107.0	110.0	109.0					2																	154996876		2203	4300	6503	SO:0001583	missense	114805					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:154996876C>A	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.169C>A	2.37:g.154996876C>A	ENSP00000376570:p.Pro57Thr					GALNT13_uc002tyt.3_Missense_Mutation_p.P57T|GALNT13_uc010foc.1_5'UTR	p.P57T	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN			4	736	+			57			Lumenal (Potential).		Q08ER7|Q68VI8|Q6ZWG1|Q96PX0|Q9UIE5	Missense_Mutation	SNP	ENST00000392825.3	37	c.169C>A	CCDS2199.1	.	.	.	.	.	.	.	.	.	.	C	18.00	3.524626	0.64747	.	.	ENSG00000144278	ENST00000392825;ENST00000409237	T;T	0.57107	0.49;0.42	6.13	6.13	0.99165	.	0.103731	0.64402	D	0.000002	T	0.66187	0.2764	M	0.83312	2.635	0.80722	D	1	P;P	0.52692	0.955;0.865	B;P	0.47346	0.439;0.544	T	0.70666	-0.4809	10	0.62326	D	0.03	.	19.4039	0.94641	0.0:1.0:0.0:0.0	.	57;57	Q08ER7;Q8IUC8	.;GLT13_HUMAN	T	57	ENSP00000376570:P57T;ENSP00000387239:P57T	ENSP00000376570:P57T	P	+	1	0	GALNT13	154705122	1.000000	0.71417	0.998000	0.56505	0.282000	0.26991	7.747000	0.85070	2.932000	0.99384	0.644000	0.83932	CCA		PASS	0.358	GALNT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254870.2	NM_052917		6	108	6	108	---	---	---	---
SLC4A10	57282	broad.mit.edu	37	2	162661006	162661006	+	Missense_Mutation	SNP	A	A	G			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr2:162661006A>G	ENST00000446997.1	+	3	271	c.178A>G	c.(178-180)Aaa>Gaa	p.K60E	SLC4A10_ENST00000415876.2_Missense_Mutation_p.K60E|SLC4A10_ENST00000272716.5_Missense_Mutation_p.K60E|SLC4A10_ENST00000375514.5_Missense_Mutation_p.K71E|SLC4A10_ENST00000535165.1_Missense_Mutation_p.K60E|SLC4A10_ENST00000421911.1_Missense_Mutation_p.K60E|SLC4A10_ENST00000493021.1_3'UTR	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	60					bicarbonate transport (GO:0015701)|chloride transport (GO:0006821)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|symporter activity (GO:0015293)	p.K60E(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60					Sodium bicarbonate(DB01390)	GGGAGGAAGAAAAAGCCATCG	0.438																																						uc002ubx.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(2)|pancreas(1)	5						c.(178-180)AAA>GAA		solute carrier family 4, sodium bicarbonate							112.0	110.0	111.0					2																	162661006		1895	4121	6016	SO:0001583	missense	57282				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity	g.chr2:162661006A>G		CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290		"""Solute carriers"""	13811	protein-coding gene	gene with protein product		605556	"""solute carrier family 4, sodium bicarbonate transporter-like, member 10"""			10964153, 18319254	Standard	NM_022058		Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	ENST00000446997.1:c.178A>G	2.37:g.162661006A>G	ENSP00000393066:p.Lys60Glu					SLC4A10_uc010fpa.1_Missense_Mutation_p.K72E|SLC4A10_uc010zcr.1_RNA|SLC4A10_uc002uby.3_Missense_Mutation_p.K60E|SLC4A10_uc010zcs.1_Missense_Mutation_p.K71E	p.K60E	NM_022058	NP_071341	Q6U841	S4A10_HUMAN			3	362	+			60			Cytoplasmic (Potential).		B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Missense_Mutation	SNP	ENST00000446997.1	37	c.178A>G	CCDS54411.1	.	.	.	.	.	.	.	.	.	.	A	16.69	3.194409	0.58017	.	.	ENSG00000144290	ENST00000375514;ENST00000415876;ENST00000535165;ENST00000272716;ENST00000449513;ENST00000446997;ENST00000421911;ENST00000415711	T;T;T;T;T;T	0.79352	-1.26;-1.26;0.61;-1.25;-1.25;-1.25	5.36	5.36	0.76844	.	0.087789	0.85682	D	0.000000	T	0.56277	0.1974	N	0.02539	-0.55	0.34874	D	0.743847	B;B;B;B	0.06786	0.0;0.001;0.0;0.0	B;B;B;B	0.08055	0.003;0.003;0.003;0.001	T	0.61123	-0.7126	10	0.34782	T	0.22	.	15.6526	0.77110	1.0:0.0:0.0:0.0	.	71;60;60;60	F8W675;E7EW28;Q6U841-2;Q6U841	.;.;.;S4A10_HUMAN	E	71;60;60;60;60;60;60;60	ENSP00000364664:K71E;ENSP00000395797:K60E;ENSP00000437527:K60E;ENSP00000272716:K60E;ENSP00000393066:K60E;ENSP00000404486:K60E	ENSP00000272716:K60E	K	+	1	0	SLC4A10	162369252	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.917000	0.87498	2.169000	0.68431	0.374000	0.22700	AAA		PASS	0.438	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333090.1	NM_022058		10	48	10	48	---	---	---	---
LRP2	4036	broad.mit.edu	37	2	170062966	170062966	+	Missense_Mutation	SNP	T	T	G			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr2:170062966T>G	ENST00000263816.3	-	39	7549	c.7264A>C	c.(7264-7266)Atg>Ctg	p.M2422L		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2422					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.M2422L(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	TCTAGAGACATGACAGTTCTT	0.413																																						uc002ues.2																			1	Substitution - Missense(1)		lung(1)	ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(7264-7266)ATG>CTG		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						92.0	94.0	93.0					2																	170062966		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170062966T>G		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.7264A>C	2.37:g.170062966T>G	ENSP00000263816:p.Met2422Leu						p.M2422L	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	39	7477	-			2422			Extracellular (Potential).		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.7264A>C	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	T	7.102	0.574233	0.13623	.	.	ENSG00000081479	ENST00000263816	D	0.90676	-2.71	5.87	-0.00495	0.14019	Six-bladed beta-propeller, TolB-like (1);	0.361955	0.28425	N	0.015393	T	0.70579	0.3240	N	0.02916	-0.46	0.54753	D	0.999989	B	0.06786	0.001	B	0.04013	0.001	T	0.51545	-0.8692	10	0.39692	T	0.17	.	0.9325	0.01338	0.1536:0.3512:0.1519:0.3432	.	2422	P98164	LRP2_HUMAN	L	2422	ENSP00000263816:M2422L	ENSP00000263816:M2422L	M	-	1	0	LRP2	169771212	0.955000	0.32602	0.000000	0.03702	0.003000	0.03518	2.123000	0.41996	-0.316000	0.08690	0.482000	0.46254	ATG		PASS	0.413	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		74	128	74	128	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179474028	179474028	+	Nonsense_Mutation	SNP	G	G	A			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr2:179474028G>A	ENST00000591111.1	-	223	47310	c.47086C>T	c.(47086-47088)Cga>Tga	p.R15696*	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.R17337*|TTN_ENST00000460472.2_Nonsense_Mutation_p.R8272*|TTN_ENST00000359218.5_Nonsense_Mutation_p.R8397*|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.R8464*|TTN_ENST00000342992.6_Nonsense_Mutation_p.R14769*|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589907.1_RNA			Q8WZ42	TITIN_HUMAN	titin	15696	Ig-like 98.				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.R14769*(2)|p.R8272*(1)|p.R8464*(1)|p.R8397*(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)			AGAGAATCTCGGACGCGTAGC	0.453																																						uc010zfg.1																			5	Substitution - Nonsense(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.(44305-44307)CGA>TGA		titin isoform N2-A							107.0	105.0	105.0					2																	179474028		1929	4130	6059	SO:0001587	stop_gained	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179474028G>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.47086C>T	2.37:g.179474028G>A	ENSP00000465570:p.Arg15696*					uc002ump.1_Intron|TTN_uc010zfh.1_Nonsense_Mutation_p.R8464*|TTN_uc010zfi.1_Nonsense_Mutation_p.R8397*|TTN_uc010zfj.1_Nonsense_Mutation_p.R8272*	p.R14769*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		222	44529	-			15696					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	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.44305C>T		.	.	.	.	.	.	.	.	.	.	G	60	40.950042	0.99985	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.4442	0.67338	0.0:0.0:0.8527:0.1473	.	.	.	.	X	14769;8272;8464;8397;8272	.	ENSP00000340554:R8464X	R	-	1	2	TTN	179182273	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.644000	0.46613	2.621000	0.88768	0.558000	0.71614	CGA		PASS	0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		21	30	21	30	---	---	---	---
CCDC141	285025	broad.mit.edu	37	2	179736925	179736925	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr2:179736925G>T	ENST00000420890.2	-	13	2131	c.2014C>A	c.(2014-2016)Ctt>Att	p.L672I	CCDC141_ENST00000295723.5_Missense_Mutation_p.L97I	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	672								p.L97I(1)|p.L672I(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			GTGGCTTTAAGCTGCCATGCC	0.458																																						uc002unf.1																			2	Substitution - Missense(2)		lung(2)	ovary(7)|pancreas(2)|skin(1)	10						c.(289-291)CTT>ATT		coiled-coil domain containing 141							147.0	121.0	130.0					2																	179736925		2203	4300	6503	SO:0001583	missense	285025						protein binding	g.chr2:179736925G>T	AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26821	protein-coding gene	gene with protein product	"""coiled-coil protein associated with myosin II and DISC1"""					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000420890.2:c.2014C>A	2.37:g.179736925G>T	ENSP00000395995:p.Leu672Ile						p.L97I	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)		3	346	-			97			Potential.		H7C0P1|J3KNW6|Q8N8H3	Missense_Mutation	SNP	ENST00000420890.2	37	c.289C>A		.	.	.	.	.	.	.	.	.	.	G	15.51	2.853718	0.51270	.	.	ENSG00000163492	ENST00000420890;ENST00000343876;ENST00000295723;ENST00000443758;ENST00000446116	T;T;T;T	0.48522	0.81;1.4;1.39;1.45	5.51	2.71	0.32032	.	0.695035	0.12337	N	0.477884	T	0.30696	0.0773	L	0.32530	0.975	0.09310	N	1	P	0.36909	0.573	B	0.31442	0.13	T	0.10428	-1.0630	10	0.35671	T	0.21	-0.0221	5.9477	0.19227	0.1819:0.177:0.6411:0.0	.	97	Q6ZP82	CC141_HUMAN	I	672;116;97;672;607	ENSP00000395995:L672I;ENSP00000344627:L116I;ENSP00000295723:L97I;ENSP00000390190:L672I	ENSP00000295723:L97I	L	-	1	0	CCDC141	179445170	0.803000	0.28956	0.020000	0.16555	0.823000	0.46562	1.226000	0.32563	0.680000	0.31366	0.558000	0.71614	CTT		PASS	0.458	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173648		10	69	10	69	---	---	---	---
DNAJC10	54431	broad.mit.edu	37	2	183608387	183608387	+	Silent	SNP	G	G	A			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr2:183608387G>A	ENST00000264065.7	+	14	1669	c.1254G>A	c.(1252-1254)ccG>ccA	p.P418P		NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	418	Trxb 2.				cell redox homeostasis (GO:0045454)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATPase activity (GO:0032781)|protein folding in endoplasmic reticulum (GO:0034975)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|chaperone binding (GO:0051087)|disulfide oxidoreductase activity (GO:0015036)|Hsp70 protein binding (GO:0030544)|misfolded protein binding (GO:0051787)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide oxidoreductase activity (GO:0015035)	p.P418P(1)		breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TTTTTCAGCCGTCTCTAGCAG	0.333																																					Pancreas(56;860 1183 25669 35822 48585)	uc002uow.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|large_intestine(1)|breast(1)|skin(1)	4						c.(1252-1254)CCG>CCA		DnaJ (Hsp40) homolog, subfamily C, member 10							154.0	146.0	149.0					2																	183608387		2203	4300	6503	SO:0001819	synonymous_variant	54431				apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding	g.chr2:183608387G>A		CCDS33345.1, CCDS74613.1	2q32.1	2011-11-23			ENSG00000077232	ENSG00000077232		"""Heat shock proteins / DNAJ (HSP40)"", ""Protein disulfide isomerases"""	24637	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 19"""	607987				12411443, 12446677	Standard	NM_018981		Approved	ERdj5, PDIA19	uc002uow.2	Q8IXB1	OTTHUMG00000154209	ENST00000264065.7:c.1254G>A	2.37:g.183608387G>A						DNAJC10_uc002uox.1_RNA|DNAJC10_uc002uoy.1_RNA|DNAJC10_uc002uoz.1_Silent_p.P372P|DNAJC10_uc010fro.1_RNA	p.P418P	NM_018981	NP_061854	Q8IXB1	DJC10_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)		14	1669	+			418					Q17RJ6|Q3B7W8|Q4ZG06|Q53QT7|Q6UWZ6|Q86T61|Q8NC82|Q8TD87|Q96K38|Q96K44|Q96K54|Q9NSY6	Silent	SNP	ENST00000264065.7	37	c.1254G>A	CCDS33345.1																																																																																				PASS	0.333	DNAJC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334418.2	NM_018981		11	233	11	233	---	---	---	---
DNAH7	56171	broad.mit.edu	37	2	196681528	196681528	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr2:196681528C>A	ENST00000312428.6	-	51	9685	c.9585G>T	c.(9583-9585)aaG>aaT	p.K3195N		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3195					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)	p.K3195N(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TGGTGTCAATCTTTTTCTCTG	0.418																																						uc002utj.3																			1	Substitution - Missense(1)		lung(1)	skin(10)|ovary(2)	12						c.(9583-9585)AAG>AAT		dynein, axonemal, heavy chain 7							147.0	149.0	149.0					2																	196681528		1880	4111	5991	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196681528C>A	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.9585G>T	2.37:g.196681528C>A	ENSP00000311273:p.Lys3195Asn						p.K3195N	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			51	9686	-			3195					B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.9585G>T	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	C	11.70	1.718190	0.30503	.	.	ENSG00000118997	ENST00000312428	T	0.54279	0.58	5.11	4.24	0.50183	.	0.047738	0.85682	D	0.000000	T	0.57007	0.2024	M	0.77313	2.365	0.80722	D	1	B	0.22983	0.078	B	0.31442	0.13	T	0.58561	-0.7615	10	0.45353	T	0.12	.	13.1561	0.59518	0.0:0.9225:0.0:0.0775	.	3195	Q8WXX0	DYH7_HUMAN	N	3195	ENSP00000311273:K3195N	ENSP00000311273:K3195N	K	-	3	2	DNAH7	196389773	1.000000	0.71417	0.993000	0.49108	0.248000	0.25809	2.616000	0.46376	1.384000	0.46424	0.591000	0.81541	AAG		PASS	0.418	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		16	132	16	132	---	---	---	---
DNAH7	56171	broad.mit.edu	37	2	196729055	196729055	+	Missense_Mutation	SNP	G	G	C	rs376122638		TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr2:196729055G>C	ENST00000312428.6	-	41	7424	c.7324C>G	c.(7324-7326)Cgc>Ggc	p.R2442G		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2442	AAA 4. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)	p.R2442G(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TCCCGCTGGCGATCTAACTGA	0.448																																						uc002utj.3																			1	Substitution - Missense(1)		lung(1)	skin(10)|ovary(2)	12						c.(7324-7326)CGC>GGC		dynein, axonemal, heavy chain 7							170.0	166.0	167.0					2																	196729055		1991	4165	6156	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196729055G>C	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.7324C>G	2.37:g.196729055G>C	ENSP00000311273:p.Arg2442Gly						p.R2442G	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			41	7425	-			2442			AAA 4 (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.7324C>G	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.992559	0.74703	.	.	ENSG00000118997	ENST00000312428	T	0.23950	1.88	5.34	5.34	0.76211	Dynein heavy chain, P-loop containing D4 domain (1);	0.000000	0.85682	D	0.000000	T	0.55337	0.1914	M	0.80028	2.48	0.80722	D	1	D	0.69078	0.997	D	0.74348	0.983	T	0.58719	-0.7587	10	0.72032	D	0.01	.	18.8307	0.92137	0.0:0.0:1.0:0.0	.	2442	Q8WXX0	DYH7_HUMAN	G	2442	ENSP00000311273:R2442G	ENSP00000311273:R2442G	R	-	1	0	DNAH7	196437300	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	2.740000	0.47418	2.785000	0.95823	0.650000	0.86243	CGC		PASS	0.448	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		9	121	9	121	---	---	---	---
MDH1B	130752	broad.mit.edu	37	2	207629992	207629992	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr2:207629992C>T	ENST00000374412.3	-	1	279	c.4G>A	c.(4-6)Gcc>Acc	p.A2T	FASTKD2_ENST00000403094.3_5'Flank|MDH1B_ENST00000454776.2_Missense_Mutation_p.A2T|MDH1B_ENST00000449792.1_5'UTR|FASTKD2_ENST00000402774.3_5'Flank|MDH1B_ENST00000392214.2_Missense_Mutation_p.A2T|FASTKD2_ENST00000236980.6_5'Flank	NM_001039845.1|NM_001282940.1	NP_001034934.1|NP_001269869.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	2					carbohydrate metabolic process (GO:0005975)|malate metabolic process (GO:0006108)|tricarboxylic acid cycle (GO:0006099)		malate dehydrogenase activity (GO:0016615)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)	p.A2T(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		ACGAATTTGGCCATGGTCGAG	0.647																																					Pancreas(76;29 1355 28675 37177 51207)	uc002vbs.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|kidney(1)	4						c.(4-6)GCC>ACC		malate dehydrogenase 1B, NAD (soluble)							56.0	60.0	59.0					2																	207629992		2203	4300	6503	SO:0001583	missense	130752				carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity	g.chr2:207629992C>T		CCDS33365.1, CCDS63102.1	2q33.3	2008-05-27			ENSG00000138400	ENSG00000138400			17836	protein-coding gene	gene with protein product							Standard	NM_001039845		Approved	FLJ25341, RP11-95H11	uc002vbs.3	Q5I0G3	OTTHUMG00000132918	ENST00000374412.3:c.4G>A	2.37:g.207629992C>T	ENSP00000363533:p.Ala2Thr					MDH1B_uc010ziw.1_RNA|MDH1B_uc010fui.2_Missense_Mutation_p.A2T|MDH1B_uc010fuj.2_5'UTR|MDH1B_uc002vbt.2_RNA|FASTKD2_uc002vbu.2_5'Flank|FASTKD2_uc002vbv.2_5'Flank|FASTKD2_uc002vbx.2_5'Flank|FASTKD2_uc002vbw.1_5'Flank	p.A2T	NM_001039845	NP_001034934	Q5I0G3	MDH1B_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)	1	59	-			2					A8K8M1|Q53TK9|Q8IV51	Missense_Mutation	SNP	ENST00000374412.3	37	c.4G>A	CCDS33365.1	.	.	.	.	.	.	.	.	.	.	C	17.55	3.417787	0.62622	.	.	ENSG00000138400	ENST00000374412;ENST00000454776;ENST00000392214	T;T	0.36340	1.26;1.26	4.08	3.2	0.36748	.	0.135841	0.48767	D	0.000172	T	0.53578	0.1805	M	0.66939	2.045	0.34952	D	0.751368	D;D	0.76494	0.999;0.997	D;D	0.69479	0.964;0.952	T	0.67589	-0.5632	10	0.87932	D	0	-3.3208	10.8346	0.46679	0.0:0.9079:0.0:0.0921	.	2;2	Q5I0G3-2;Q5I0G3	.;MDH1B_HUMAN	T	2	ENSP00000363533:A2T;ENSP00000389916:A2T	ENSP00000363533:A2T	A	-	1	0	MDH1B	207338237	1.000000	0.71417	1.000000	0.80357	0.277000	0.26821	2.427000	0.44740	1.309000	0.44985	0.462000	0.41574	GCC		PASS	0.647	MDH1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256429.2	NM_001039845		4	150	4	150	---	---	---	---
XRCC5	7520	broad.mit.edu	37	2	216981498	216981498	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr2:216981498G>T	ENST00000392133.3	+	5	713	c.252G>T	c.(250-252)atG>atT	p.M84I	XRCC5_ENST00000392132.2_Missense_Mutation_p.M84I			P13010	XRCC5_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)	84					brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to fatty acid (GO:0071398)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|hematopoietic stem cell differentiation (GO:0060218)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|positive regulation of type I interferon production (GO:0032481)|response to drug (GO:0042493)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear chromosome, telomeric region (GO:0000784)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|telomeric DNA binding (GO:0042162)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)	p.M84I(1)		endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		GACATCTGATGCTACCAGATT	0.438								Non-homologous end-joining																														uc002vfy.2																			1	Substitution - Missense(1)		lung(1)	lung(1)|kidney(1)	2						c.(250-252)ATG>ATT	Direct_reversal_of_damage|NHEJ	ATP-dependent DNA helicase II							171.0	153.0	159.0					2																	216981498		2203	4300	6503	SO:0001583	missense	7520				double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding	g.chr2:216981498G>T	AF039597	CCDS2402.1	2q35	2008-07-31	2008-07-31		ENSG00000079246	ENSG00000079246			12833	protein-coding gene	gene with protein product	"""Ku autoantigen, 80kDa"""	194364	"""X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining; Ku autoantigen, 80kD)"""			9636207, 9214634	Standard	NM_021141		Approved	KU80, KARP-1, Ku86, KUB2	uc002vfy.3	P13010	OTTHUMG00000133059	ENST00000392133.3:c.252G>T	2.37:g.216981498G>T	ENSP00000375978:p.Met84Ile					XRCC5_uc002vfz.2_5'Flank	p.M84I	NM_021141	NP_066964	P13010	XRCC5_HUMAN		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)	3	392	+		Renal(323;0.0328)	84					A8K3X5|Q0Z7V0|Q4VBQ5|Q53HH7|Q7M4N0|Q9UCQ0|Q9UCQ1	Missense_Mutation	SNP	ENST00000392133.3	37	c.252G>T	CCDS2402.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.956248	0.73902	.	.	ENSG00000079246	ENST00000392133;ENST00000392132;ENST00000417391	T;T	0.29655	1.56;1.56	5.8	5.8	0.92144	Ku70/Ku80, N-terminal alpha/beta (1);von Willebrand factor, type A (1);	0.173710	0.64402	D	0.000010	T	0.41465	0.1160	M	0.72118	2.19	0.80722	D	1	B	0.31655	0.334	B	0.36808	0.233	T	0.18745	-1.0327	10	0.39692	T	0.17	.	19.0588	0.93078	0.0:0.0:1.0:0.0	.	84	P13010	XRCC5_HUMAN	I	84;84;71	ENSP00000375978:M84I;ENSP00000375977:M84I	ENSP00000375977:M84I	M	+	3	0	XRCC5	216689743	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	9.476000	0.97823	2.744000	0.94065	0.655000	0.94253	ATG		PASS	0.438	XRCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256675.3	NM_021141		122	227	122	227	---	---	---	---
SPEG	10290	broad.mit.edu	37	2	220342650	220342650	+	Missense_Mutation	SNP	G	G	A	rs200758666		TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr2:220342650G>A	ENST00000312358.7	+	22	4982	c.4850G>A	c.(4849-4851)cGc>cAc	p.R1617H	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1617	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R1617H(1)		breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		TACTTGCGGCGCATAGTGGAG	0.652													G|||	1	0.000199681	0.0	0.0	5008	,	,		17069	0.0		0.001	False		,,,				2504	0.0					uc010fwg.2																			1	Substitution - Missense(1)		lung(1)	stomach(9)|ovary(4)|central_nervous_system(1)	14						c.(4849-4851)CGC>CAC		SPEG complex locus		G	HIS/ARG	0,4070		0,0,2035	92.0	97.0	95.0		4850	5.2	1.0	2		95	1,8371		0,1,4185	no	missense	SPEG	NM_005876.4	29	0,1,6220	AA,AG,GG		0.0119,0.0,0.0080	probably-damaging	1617/3268	220342650	1,12441	2035	4186	6221	SO:0001583	missense	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220342650G>A	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.4850G>A	2.37:g.220342650G>A	ENSP00000311684:p.Arg1617His						p.R1617H	NM_005876	NP_005867	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	22	4850	+		Renal(207;0.0183)	1617			Protein kinase 1.		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	ENST00000312358.7	37	c.4850G>A	CCDS42824.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	15.05	2.719284	0.48728	0.0	1.19E-4	ENSG00000072195	ENST00000312358;ENST00000265327	T	0.42513	0.97	5.24	5.24	0.73138	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	0.39985	N	0.001204	T	0.62233	0.2411	L	0.58583	1.82	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.63924	-0.6527	10	0.87932	D	0	.	17.181	0.86855	0.0:0.0:1.0:0.0	.	1617	Q15772	SPEG_HUMAN	H	1617	ENSP00000311684:R1617H	ENSP00000265327:R1617H	R	+	2	0	SPEG	220050894	1.000000	0.71417	0.955000	0.39395	0.554000	0.35429	5.205000	0.65186	2.724000	0.93272	0.563000	0.77884	CGC		PASS	0.652	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		6	516	6	516	---	---	---	---
ANO7	50636	broad.mit.edu	37	2	242149889	242149889	+	Missense_Mutation	SNP	C	C	T	rs184837414	byFrequency	TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr2:242149889C>T	ENST00000274979.8	+	15	1730	c.1627C>T	c.(1627-1629)Cgc>Tgc	p.R543C	ANO7_ENST00000402430.3_Missense_Mutation_p.R542C	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	543					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)	p.R543C(1)		NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						TTAGGCCTCTCGCATCGCCAG	0.637													C|||	2	0.000399361	0.0	0.0014	5008	,	,		16885	0.0		0.001	False		,,,				2504	0.0					uc002wax.2																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|central_nervous_system(1)	3						c.(1627-1629)CGC>TGC		transmembrane protein 16G isoform NGEP long							96.0	83.0	87.0					2																	242149889		2203	4300	6503	SO:0001583	missense	50636					cell junction|chloride channel complex|cytosol	chloride channel activity	g.chr2:242149889C>T	AY617079	CCDS33423.1, CCDS46563.1	2q37.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000146205	ENSG00000146205		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	31677	protein-coding gene	gene with protein product		605096	"""transmembrane protein 16G"""	PCANAP5, TMEM16G		14981236, 15375614, 24692353	Standard	NM_001001891		Approved	NGEP, PCANAP5L, IPCA-5	uc002wax.2	Q6IWH7	OTTHUMG00000151702	ENST00000274979.8:c.1627C>T	2.37:g.242149889C>T	ENSP00000274979:p.Arg543Cys						p.R543C	NM_001001891	NP_001001891	Q6IWH7	ANO7_HUMAN			15	1730	+			543			Extracellular (Potential).		Q6IWH6	Missense_Mutation	SNP	ENST00000274979.8	37	c.1627C>T	CCDS33423.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	12.68	2.012072	0.35511	.	.	ENSG00000146205	ENST00000274979;ENST00000402430	T;T	0.64618	-0.11;-0.11	3.49	0.146	0.14833	.	1.252990	0.05724	N	0.598293	T	0.73860	0.3641	L	0.58669	1.825	0.09310	N	0.999999	D	0.76494	0.999	D	0.67725	0.953	T	0.61426	-0.7065	10	0.38643	T	0.18	.	11.0423	0.47838	0.6442:0.3558:0.0:0.0	.	543	Q6IWH7	ANO7_HUMAN	C	543;542	ENSP00000274979:R543C;ENSP00000385418:R542C	ENSP00000274979:R543C	R	+	1	0	ANO7	241798562	0.003000	0.15002	0.000000	0.03702	0.123000	0.20343	-0.039000	0.12124	-0.263000	0.09378	0.313000	0.20887	CGC		PASS	0.637	ANO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323509.1	NM_001001891		50	104	50	104	---	---	---	---
TADA3	10474	broad.mit.edu	37	3	9831550	9831550	+	Missense_Mutation	SNP	T	T	G			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr3:9831550T>G	ENST00000301964.2	-	3	863	c.305A>C	c.(304-306)aAg>aCg	p.K102T	ARPC4_ENST00000287613.7_5'Flank|TADA3_ENST00000343450.2_Missense_Mutation_p.K102T|ARPC4_ENST00000498623.2_5'Flank|ARPC4_ENST00000397261.3_5'Flank|TADA3_ENST00000440161.1_Missense_Mutation_p.K102T|TADA3_ENST00000492635.1_5'UTR	NM_006354.2	NP_006345.1	O75528	TADA3_HUMAN	transcriptional adaptor 3	102					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|intracellular estrogen receptor signaling pathway (GO:0030520)|mitotic nuclear division (GO:0007067)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of histone deacetylation (GO:0031063)|regulation of protein phosphorylation (GO:0001932)|regulation of protein stability (GO:0031647)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of tubulin deacetylation (GO:0090043)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|intracellular (GO:0005622)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.K102T(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16						TTTCTGCTTCTTGGGCTTCCC	0.552																																						uc003bsx.1																			1	Substitution - Missense(1)		lung(1)		0						c.(304-306)AAG>ACG		transcriptional adaptor 3 isoform a							82.0	76.0	78.0					3																	9831550		2203	4300	6503	SO:0001583	missense	10474				estrogen receptor signaling pathway|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	ligand-dependent nuclear receptor binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity	g.chr3:9831550T>G	AF069733	CCDS2583.1, CCDS2584.1	3p25.3	2010-08-13	2009-10-02	2009-10-02	ENSG00000171148	ENSG00000171148			19422	protein-coding gene	gene with protein product		602945	"""transcriptional adaptor 3 (NGG1 homolog, yeast)-like"""	TADA3L		9674425, 11707411	Standard	NM_006354		Approved	FLJ20221, FLJ21329, ADA3, hADA3, NGG1	uc010hcn.2	O75528	OTTHUMG00000128440	ENST00000301964.2:c.305A>C	3.37:g.9831550T>G	ENSP00000307684:p.Lys102Thr					TADA3_uc010hcn.1_Missense_Mutation_p.K102T|TADA3_uc003bsy.2_Missense_Mutation_p.K102T|ARPC4_uc003bsz.1_5'Flank|ARPC4_uc003bta.1_5'Flank|ARPC4_uc003btb.1_5'Flank|ARPC4_uc003btc.1_5'Flank	p.K102T	NM_006354	NP_006345	O75528	TADA3_HUMAN			3	853	-			102					Q6FI83|Q9UFS2	Missense_Mutation	SNP	ENST00000301964.2	37	c.305A>C	CCDS2583.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.191541	0.78902	.	.	ENSG00000171148	ENST00000301964;ENST00000440161;ENST00000343450	.	.	.	5.53	5.53	0.82687	.	0.045285	0.85682	D	0.000000	T	0.58278	0.2111	L	0.45581	1.43	0.80722	D	1	P	0.51057	0.941	P	0.46796	0.527	T	0.61584	-0.7033	9	0.52906	T	0.07	-0.2824	15.6519	0.77104	0.0:0.0:0.0:1.0	.	102	O75528	TADA3_HUMAN	T	102	.	ENSP00000307684:K102T	K	-	2	0	TADA3	9806550	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.356000	0.79445	2.095000	0.63458	0.533000	0.62120	AAG		PASS	0.552	TADA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250236.1			107	141	107	141	---	---	---	---
SCN5A	6331	broad.mit.edu	37	3	38592834	38592834	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr3:38592834C>T	ENST00000333535.4	-	28	5178	c.5029G>A	c.(5029-5031)Gcc>Acc	p.A1677T	SCN5A_ENST00000423572.2_Missense_Mutation_p.A1676T|SCN5A_ENST00000414099.2_Missense_Mutation_p.A1659T|SCN5A_ENST00000443581.1_Missense_Mutation_p.A1676T|SCN5A_ENST00000450102.2_Missense_Mutation_p.A1623T|SCN5A_ENST00000413689.1_Missense_Mutation_p.A1677T|SCN5A_ENST00000425664.1_Missense_Mutation_p.A1659T|SCN5A_ENST00000451551.2_Missense_Mutation_p.A1623T|SCN5A_ENST00000449557.2_Missense_Mutation_p.A1623T|SCN5A_ENST00000455624.2_Missense_Mutation_p.A1644T|SCN5A_ENST00000464652.1_5'Flank			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1677					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)	p.A1677T(2)		NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	GCGAAGTTGGCCATGCCAAAG	0.552																																						uc003cio.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9						c.(5029-5031)GCC>ACC		voltage-gated sodium channel type V alpha	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						175.0	172.0	173.0					3																	38592834		2203	4300	6503	SO:0001583	missense	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38592834C>T	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.5029G>A	3.37:g.38592834C>T	ENSP00000328968:p.Ala1677Thr					SCN5A_uc003cin.2_Missense_Mutation_p.A1676T|SCN5A_uc003cil.3_Missense_Mutation_p.A1677T|SCN5A_uc010hhi.2_Missense_Mutation_p.A1659T|SCN5A_uc010hhk.2_Missense_Mutation_p.A1644T|SCN5A_uc011ayr.1_Missense_Mutation_p.A1623T	p.A1677T	NM_198056	NP_932173	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	28	5223	-	Medulloblastoma(35;0.163)		1677			Helical; Name=S5 of repeat IV; (Potential).		A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	c.5029G>A	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	C	16.76	3.212458	0.58452	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.98474	-4.95;-4.95;-4.95;-4.95;-4.95;-4.95;-4.95;-4.95;-4.95;-4.95	4.11	4.11	0.48088	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97473	0.9173	N	0.25245	0.725	0.45161	D	0.998173	P;D;P;P;P;B	0.76494	0.587;0.999;0.756;0.886;0.702;0.109	P;D;P;P;P;B	0.85130	0.475;0.997;0.627;0.643;0.674;0.071	D	0.97465	1.0037	10	0.72032	D	0.01	.	12.0948	0.53748	0.1717:0.8283:0.0:0.0	.	1623;1644;1659;1677;1676;1677	E9PEF3;E9PHB6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;SCN5A_HUMAN;.;.	T	1659;1676;1677;1623;1676;1659;1677;1644;1623;1623	ENSP00000398962:A1659T;ENSP00000398266:A1676T;ENSP00000410257:A1677T;ENSP00000388797:A1623T;ENSP00000397915:A1676T;ENSP00000416634:A1659T;ENSP00000328968:A1677T;ENSP00000399524:A1644T;ENSP00000403355:A1623T;ENSP00000413996:A1623T	ENSP00000328968:A1677T	A	-	1	0	SCN5A	38567838	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.971000	0.29396	2.306000	0.77630	0.655000	0.94253	GCC		PASS	0.552	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		7	891	7	891	---	---	---	---
SCN10A	6336	broad.mit.edu	37	3	38740051	38740051	+	Silent	SNP	G	G	A			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr3:38740051G>A	ENST00000449082.2	-	27	4659	c.4660C>T	c.(4660-4662)Ctg>Ttg	p.L1554L		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1554					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.L1554L(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	GAAAAAATCAGGCCTTTAAAA	0.443																																						uc003ciq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10						c.(4660-4662)CTG>TTG		sodium channel, voltage-gated, type X, alpha	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						45.0	46.0	46.0					3																	38740051		2203	4300	6503	SO:0001819	synonymous_variant	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38740051G>A	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.4660C>T	3.37:g.38740051G>A							p.L1554L	NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	27	4660	-			1554			IV.|Helical; Name=S3 of repeat IV; (Potential).		A6NDQ1	Silent	SNP	ENST00000449082.2	37	c.4660C>T	CCDS33736.1																																																																																				PASS	0.443	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		73	246	73	246	---	---	---	---
ULK4	54986	broad.mit.edu	37	3	41439615	41439615	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr3:41439615C>A	ENST00000301831.4	-	35	4095	c.3633G>T	c.(3631-3633)gaG>gaT	p.E1211D		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	1211					cilium morphogenesis (GO:0060271)|epithelial cilium movement (GO:0003351)|microtubule cytoskeleton organization (GO:0000226)|regulation of JNK cascade (GO:0046328)|regulation of MAPK cascade (GO:0043408)|regulation of neuron migration (GO:2001222)|regulation of neuron projection development (GO:0010975)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase C signaling (GO:0090036)|ventricular system development (GO:0021591)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.E1211D(1)|p.E363D(1)		breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		CCTTTGGGTCCTCCTTGGATG	0.493																																						uc003ckv.3																			2	Substitution - Missense(2)		lung(2)		0						c.(3631-3633)GAG>GAT		unc-51-like kinase 4							95.0	95.0	95.0					3																	41439615		1891	4108	5999	SO:0001583	missense	54986						ATP binding|protein serine/threonine kinase activity	g.chr3:41439615C>A	AK000581	CCDS43071.1	3p22.1	2013-07-02	2013-07-02		ENSG00000168038	ENSG00000168038			15784	protein-coding gene	gene with protein product			"""unc-51-like kinase 4 (C. elegans)"""			12477932	Standard	NM_017886		Approved	FLJ20574, REC01035, FAM7C1	uc003ckv.4	Q96C45	OTTHUMG00000156210	ENST00000301831.4:c.3633G>T	3.37:g.41439615C>A	ENSP00000301831:p.Glu1211Asp						p.E1211D	NM_017886	NP_060356	Q96C45	ULK4_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.214)	35	3834	-			1211					A6NF15|Q8IW79|Q9NWV6|Q9UF96	Missense_Mutation	SNP	ENST00000301831.4	37	c.3633G>T	CCDS43071.1	.	.	.	.	.	.	.	.	.	.	C	3.758	-0.050282	0.07407	.	.	ENSG00000168038	ENST00000301831	T	0.60797	0.16	5.7	2.99	0.34606	Armadillo-like helical (1);Armadillo-type fold (1);	0.452338	0.16338	U	0.218813	T	0.35595	0.0937	N	0.19112	0.55	0.80722	D	1	B	0.23937	0.094	B	0.15870	0.014	T	0.06770	-1.0808	10	0.25106	T	0.35	.	5.2822	0.15682	0.0:0.5601:0.1371:0.3027	.	1211	Q96C45	ULK4_HUMAN	D	1211	ENSP00000301831:E1211D	ENSP00000301831:E1211D	E	-	3	2	ULK4	41414619	0.209000	0.23505	0.890000	0.34922	0.212000	0.24457	0.071000	0.14594	0.363000	0.24346	-0.448000	0.05591	GAG		PASS	0.493	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343490.1	XM_929989		222	188	222	188	---	---	---	---
RTP3	83597	broad.mit.edu	37	3	46542119	46542119	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr3:46542119C>G	ENST00000296142.3	+	2	1001	c.429C>G	c.(427-429)atC>atG	p.I143M		NM_031440.1	NP_113628.1	Q9BQQ7	RTP3_HUMAN	receptor (chemosensory) transporter protein 3	143					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|protein targeting to membrane (GO:0006612)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.I143M(1)		endometrium(1)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		TCAAGGACATCTCTCTTGAAG	0.483																																						uc003cps.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(427-429)ATC>ATG		transmembrane protein 7							105.0	108.0	107.0					3																	46542119		2203	4300	6503	SO:0001583	missense	83597				detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding	g.chr3:46542119C>G	AJ312776	CCDS2740.1	3p21.3	2014-02-20	2006-11-21	2006-02-07	ENSG00000163825	ENSG00000163825		"""Receptor transporter proteins"""	15572	protein-coding gene	gene with protein product	"""zinc finger, 3CxxC-type 3"""	607181	"""transmembrane protein 7"", ""receptor transporter protein 3"""	TMEM7		16271481, 15550249, 16720576	Standard	NM_031440		Approved	LTM1, Z3CXXC3	uc003cps.1	Q9BQQ7	OTTHUMG00000133483	ENST00000296142.3:c.429C>G	3.37:g.46542119C>G	ENSP00000296142:p.Ile143Met						p.I143M	NM_031440	NP_113628	Q9BQQ7	RTP3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)	2	497	+			143			Cytoplasmic (Potential).		A2RRP6	Missense_Mutation	SNP	ENST00000296142.3	37	c.429C>G	CCDS2740.1	.	.	.	.	.	.	.	.	.	.	C	11.34	1.610995	0.28712	.	.	ENSG00000163825	ENST00000296142	T	0.21734	1.99	3.45	-0.988	0.10245	.	0.842392	0.10391	N	0.680449	T	0.36026	0.0952	M	0.62723	1.935	0.09310	N	1	D	0.71674	0.998	D	0.68621	0.959	T	0.19811	-1.0294	10	0.46703	T	0.11	-9.1633	6.934	0.24457	0.0:0.3635:0.5245:0.1119	.	143	Q9BQQ7	RTP3_HUMAN	M	143	ENSP00000296142:I143M	ENSP00000296142:I143M	I	+	3	3	RTP3	46517123	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.731000	0.04909	-0.350000	0.08262	-0.502000	0.04539	ATC		PASS	0.483	RTP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257379.2	NM_031440		117	324	117	324	---	---	---	---
CACNA1D	776	broad.mit.edu	37	3	53787697	53787697	+	Silent	SNP	A	A	T			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr3:53787697A>T	ENST00000350061.5	+	29	4285	c.3774A>T	c.(3772-3774)gcA>gcT	p.A1258A	CACNA1D_ENST00000288139.4_Silent_p.A1278A|CACNA1D_ENST00000422281.2_Silent_p.A1258A|CACNA1D_ENST00000540742.1_Silent_p.A165A	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1258					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)	p.A1278A(1)		breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	AAGTCATCGCATTTAAGCCTA	0.458																																						uc003dgv.3																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11						c.(3772-3774)GCA>GCT		calcium channel, voltage-dependent, L type,	Verapamil(DB00661)						157.0	128.0	138.0					3																	53787697		2203	4300	6503	SO:0001819	synonymous_variant	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53787697A>T	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.3774A>T	3.37:g.53787697A>T						CACNA1D_uc003dgu.3_Silent_p.A1278A|CACNA1D_uc003dgy.3_Silent_p.A1258A|CACNA1D_uc003dgw.3_Silent_p.A925A|CACNA1D_uc003dgx.1_Silent_p.A406A	p.A1258A	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	29	3937	+			1258			IV.|Helical; Name=S2 of repeat IV; (Potential).		B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Silent	SNP	ENST00000350061.5	37	c.3774A>T	CCDS46848.1																																																																																				PASS	0.458	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		45	89	45	89	---	---	---	---
ZBTB11	27107	broad.mit.edu	37	3	101390001	101390001	+	Missense_Mutation	SNP	T	T	A			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr3:101390001T>A	ENST00000312938.4	-	3	1331	c.751A>T	c.(751-753)Agt>Tgt	p.S251C	ZBTB11_ENST00000461821.1_3'UTR	NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	251	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				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.S251C(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						GCCTCATGACTGGAAACAGCT	0.368																																						uc003dve.3																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(751-753)AGT>TGT		zinc finger protein ZNF-U69274							61.0	59.0	59.0					3																	101390001		2203	4300	6503	SO:0001583	missense	27107				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:101390001T>A	U69274	CCDS2943.1	3q12.3	2013-01-09			ENSG00000066422	ENSG00000066422		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	16740	protein-coding gene	gene with protein product							Standard	NM_014415		Approved	ZNF-U69274, ZNF913	uc003dve.4	O95625	OTTHUMG00000159133	ENST00000312938.4:c.751A>T	3.37:g.101390001T>A	ENSP00000326200:p.Ser251Cys					ZBTB11_uc003dvf.2_3'UTR	p.S251C	NM_014415	NP_055230	O95625	ZBT11_HUMAN			3	981	-			251			BTB.		Q2NKP9	Missense_Mutation	SNP	ENST00000312938.4	37	c.751A>T	CCDS2943.1	.	.	.	.	.	.	.	.	.	.	T	27.4	4.827530	0.90955	.	.	ENSG00000066422	ENST00000312938	T	0.69435	-0.4	5.48	5.48	0.80851	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.045485	0.85682	D	0.000000	T	0.80347	0.4606	M	0.68728	2.09	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.82647	-0.0354	10	0.87932	D	0	-12.1098	15.5729	0.76354	0.0:0.0:0.0:1.0	.	251	O95625	ZBT11_HUMAN	C	251	ENSP00000326200:S251C	ENSP00000326200:S251C	S	-	1	0	ZBTB11	102872691	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.983000	0.70540	2.092000	0.63282	0.533000	0.62120	AGT		PASS	0.368	ZBTB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353441.2	NM_014415		26	143	26	143	---	---	---	---
MYH15	22989	broad.mit.edu	37	3	108124257	108124257	+	Missense_Mutation	SNP	A	A	T			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr3:108124257A>T	ENST00000273353.3	-	34	4780	c.4724T>A	c.(4723-4725)cTt>cAt	p.L1575H		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1575						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.L1575H(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CAAGAGTTCAAGCTGGAAATG	0.318																																						uc003dxa.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(2)	7						c.(4723-4725)CTT>CAT		myosin, heavy polypeptide 15							65.0	62.0	63.0					3																	108124257		1810	4067	5877	SO:0001583	missense	22989					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr3:108124257A>T	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.4724T>A	3.37:g.108124257A>T	ENSP00000273353:p.Leu1575His						p.L1575H	NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN			34	4781	-			1575			Potential.			Missense_Mutation	SNP	ENST00000273353.3	37	c.4724T>A	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	A	11.89	1.773820	0.31411	.	.	ENSG00000144821	ENST00000273353	T	0.80033	-1.33	5.28	-0.0309	0.13912	Myosin tail (1);	.	.	.	.	D	0.86977	0.6063	M	0.81179	2.53	0.39436	D	0.967168	D	0.89917	1.0	D	0.79108	0.992	D	0.84460	0.0593	9	0.87932	D	0	.	7.2945	0.26385	0.5262:0.2421:0.0:0.2318	.	1575	Q9Y2K3	MYH15_HUMAN	H	1575	ENSP00000273353:L1575H	ENSP00000273353:L1575H	L	-	2	0	MYH15	109606947	1.000000	0.71417	0.012000	0.15200	0.011000	0.07611	5.003000	0.63959	-0.138000	0.11434	-1.137000	0.01932	CTT		PASS	0.318	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		26	59	26	59	---	---	---	---
KIAA2018	205717	broad.mit.edu	37	3	113374483	113374483	+	Missense_Mutation	SNP	G	G	A	rs377443949		TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr3:113374483G>A	ENST00000478658.1	-	5	6063	c.6046C>T	c.(6046-6048)Ctc>Ttc	p.L2016F	KIAA2018_ENST00000316407.4_Missense_Mutation_p.L2016F|KIAA2018_ENST00000491165.1_Intron			Q68DE3	K2018_HUMAN	KIAA2018	2016						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)	p.L2016F(1)		NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						CCAGTAGAGAGAGGAAGATGG	0.463																																						uc003eam.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(6046-6048)CTC>TTC		hypothetical protein LOC205717		G	PHE/LEU	0,3868		0,0,1934	55.0	54.0	55.0		6046	6.0	1.0	3		55	1,8265		0,1,4132	no	missense	KIAA2018	NM_001009899.2	22	0,1,6066	AA,AG,GG		0.0121,0.0,0.0082	probably-damaging	2016/2246	113374483	1,12133	1934	4133	6067	SO:0001583	missense	205717				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr3:113374483G>A	AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.6046C>T	3.37:g.113374483G>A	ENSP00000420721:p.Leu2016Phe					KIAA2018_uc003eal.2_Missense_Mutation_p.L1960F	p.L2016F	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN			7	6457	-			2016					Q7Z3L9|Q8IVF3|Q9H8T4	Missense_Mutation	SNP	ENST00000478658.1	37	c.6046C>T	CCDS43133.1	.	.	.	.	.	.	.	.	.	.	G	18.02	3.530634	0.64860	0.0	1.21E-4	ENSG00000176542	ENST00000316407;ENST00000478658	T;T	0.25085	1.82;1.82	6.04	6.04	0.98038	.	0.000000	0.64402	D	0.000002	T	0.44644	0.1303	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.23048	-1.0199	10	0.66056	D	0.02	-7.3039	20.5948	0.99439	0.0:0.0:1.0:0.0	.	2016	Q68DE3	K2018_HUMAN	F	2016	ENSP00000320794:L2016F;ENSP00000420721:L2016F	ENSP00000320794:L2016F	L	-	1	0	KIAA2018	114857173	1.000000	0.71417	1.000000	0.80357	0.808000	0.45660	7.272000	0.78516	2.873000	0.98535	0.563000	0.77884	CTC		PASS	0.463	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899		28	91	28	91	---	---	---	---
PRKCI	5584	broad.mit.edu	37	3	170016900	170016900	+	Splice_Site	SNP	T	T	G			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr3:170016900T>G	ENST00000295797.4	+	17	2008		c.e17+2			NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota						actin filament organization (GO:0007015)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell junction organization (GO:0045216)|cellular response to insulin stimulus (GO:0032869)|cytoskeleton organization (GO:0007010)|establishment of apical/basal cell polarity (GO:0035089)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|eye photoreceptor cell development (GO:0042462)|Golgi vesicle budding (GO:0048194)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of glucose import (GO:0046326)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|protein targeting to membrane (GO:0006612)|response to interleukin-1 (GO:0070555)|secretion (GO:0046903)|tight junction assembly (GO:0070830)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)	ATP binding (GO:0005524)|phospholipid binding (GO:0005543)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)	p.?(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		Tamoxifen(DB00675)	AGATGACGAGTAAGTAATTCT	0.323																																						uc003fgs.2																			1	Unknown(1)		lung(1)	lung(2)|ovary(1)|breast(1)|skin(1)	5						c.e17+2		protein kinase C, iota							57.0	54.0	55.0					3																	170016900		2203	4300	6503	SO:0001630	splice_region_variant	5584				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding	g.chr3:170016900T>G		CCDS3212.2	3q26.3	2008-07-18			ENSG00000163558	ENSG00000163558	2.7.11.13		9404	protein-coding gene	gene with protein product		600539		DXS1179E		7607695, 11978974	Standard	NM_002740		Approved	PKCI	uc003fgs.2	P41743	OTTHUMG00000150214	ENST00000295797.4:c.1703+2T>G	3.37:g.170016900T>G						PRKCI_uc003fgt.2_Splice_Site_p.D123_splice	p.D568_splice	NM_002740	NP_002731	P41743	KPCI_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		17	1941	+	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)							D3DNQ4|Q8WW06	Splice_Site	SNP	ENST00000295797.4	37	c.1703_splice	CCDS3212.2	.	.	.	.	.	.	.	.	.	.	T	12.00	1.806858	0.31961	.	.	ENSG00000163558	ENST00000295797	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3938	0.74774	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	PRKCI	171499594	1.000000	0.71417	1.000000	0.80357	0.046000	0.14306	7.669000	0.83911	2.094000	0.63399	0.528000	0.53228	.		PASS	0.323	PRKCI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316866.3	NM_002740	Intron	18	197	18	197	---	---	---	---
SPATA16	83893	broad.mit.edu	37	3	172642018	172642018	+	Missense_Mutation	SNP	T	T	C			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr3:172642018T>C	ENST00000351008.3	-	8	1501	c.1318A>G	c.(1318-1320)Att>Gtt	p.I440V		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	440					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)		p.I440V(1)		breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			GTGCTTCTAATAAAATCCAAT	0.348																																						uc003fin.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1318-1320)ATT>GTT		spermatogenesis associated 16							106.0	106.0	106.0					3																	172642018		2203	4300	6503	SO:0001583	missense	83893				cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding	g.chr3:172642018T>C	AF345909	CCDS3221.1	3q26.31	2009-01-05			ENSG00000144962	ENSG00000144962			29935	protein-coding gene	gene with protein product		609856				12529416, 17847006	Standard	NM_031955		Approved	NYD-SP12	uc003fin.4	Q9BXB7	OTTHUMG00000156865	ENST00000351008.3:c.1318A>G	3.37:g.172642018T>C	ENSP00000341765:p.Ile440Val						p.I440V	NM_031955	NP_114161	Q9BXB7	SPT16_HUMAN	LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)		8	1476	-	Ovarian(172;0.00319)|Breast(254;0.197)		440					Q0R0N4|Q0R0S0|Q0R0W2|Q0R129|Q0R131|Q0R140|Q0R1B8|Q0R1G5|Q0R1I2|Q0R1J6|Q0R1S4|Q0R202|Q0R280|Q0R2F8|Q0R2N6|Q0R2N7|Q0R2R0|Q0R2R1|Q0R2S3|Q0R2S4|Q0R2S5|Q0R2T4|Q0R2T7|Q0R2U2|Q0R2U8|Q0R2U9|Q0R2V5|Q0R2V7|Q8NE67	Missense_Mutation	SNP	ENST00000351008.3	37	c.1318A>G	CCDS3221.1	.	.	.	.	.	.	.	.	.	.	T	14.27	2.485638	0.44147	.	.	ENSG00000144962	ENST00000351008	T	0.17213	2.29	5.81	5.81	0.92471	.	0.079417	0.53938	D	0.000049	T	0.19327	0.0464	L	0.29908	0.895	0.30549	N	0.765649	P	0.45715	0.865	P	0.46585	0.521	T	0.03957	-1.0989	10	0.72032	D	0.01	-14.2683	14.4037	0.67068	0.0:0.0:0.0:1.0	.	440	Q9BXB7	SPT16_HUMAN	V	440	ENSP00000341765:I440V	ENSP00000341765:I440V	I	-	1	0	SPATA16	174124712	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.356000	0.66052	2.221000	0.72209	0.455000	0.32223	ATT		PASS	0.348	SPATA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346322.1	NM_031955		11	440	11	440	---	---	---	---
CCDC39	339829	broad.mit.edu	37	3	180366114	180366114	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr3:180366114C>A	ENST00000442201.2	-	10	1320	c.1201G>T	c.(1201-1203)Gtg>Ttg	p.V401L	CCDC39_ENST00000273654.4_Missense_Mutation_p.V485L	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	401					axonemal dynein complex assembly (GO:0070286)|cilium-dependent cell motility (GO:0060285)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)		p.V401L(1)|p.V485L(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	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)			TTAAACAGCACACCTTTTATG	0.313																																						uc010hxe.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)	4						c.(1201-1203)GTG>TTG		coiled-coil domain containing 39							143.0	134.0	137.0					3																	180366114		1835	4072	5907	SO:0001583	missense	339829				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton		g.chr3:180366114C>A	BC047103	CCDS46964.1	3q26.33	2012-07-27			ENSG00000145075	ENSG00000145075			25244	protein-coding gene	gene with protein product		613798				21131972	Standard	NM_181426		Approved	DKFZp434A128, CILD14, FAP59	uc010hxe.3	Q9UFE4	OTTHUMG00000157857	ENST00000442201.2:c.1201G>T	3.37:g.180366114C>A	ENSP00000405708:p.Val401Leu					CCDC39_uc003fkn.2_RNA	p.V401L	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		10	1316	-	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		401			Potential.		B4E2H1	Missense_Mutation	SNP	ENST00000442201.2	37	c.1201G>T	CCDS46964.1	.	.	.	.	.	.	.	.	.	.	C	7.284	0.609606	0.14066	.	.	ENSG00000145075	ENST00000273654;ENST00000442201	T;T	0.76968	-1.06;-1.06	5.41	3.59	0.41128	.	0.282509	0.34046	N	0.004310	T	0.62122	0.2402	L	0.31926	0.97	0.23435	N	0.997685	B	0.25441	0.126	B	0.22386	0.039	T	0.46091	-0.9216	10	0.22706	T	0.39	-6.647	6.5771	0.22573	0.0:0.5589:0.2935:0.1476	.	401	Q9UFE4	CCD39_HUMAN	L	485;401	ENSP00000273654:V485L;ENSP00000405708:V401L	ENSP00000273654:V485L	V	-	1	0	CCDC39	181848808	0.008000	0.16893	0.614000	0.29051	0.474000	0.32979	0.332000	0.19751	1.263000	0.44181	0.563000	0.77884	GTG		PASS	0.313	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349783.3	XM_291028		28	455	28	455	---	---	---	---
ATP11B	23200	broad.mit.edu	37	3	182605445	182605445	+	Missense_Mutation	SNP	T	T	A			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr3:182605445T>A	ENST00000323116.5	+	24	3047	c.2787T>A	c.(2785-2787)agT>agA	p.S929R		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	929					aminophospholipid transport (GO:0015917)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|ion transmembrane transporter activity (GO:0015075)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.S929R(1)		breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			TGATATATAGTCTTTTGGAAC	0.343																																						uc003flb.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(2785-2787)AGT>AGA		ATPase, class VI, type 11B							142.0	141.0	142.0					3																	182605445		2203	4294	6497	SO:0001583	missense	23200				aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr3:182605445T>A	AF156548	CCDS33896.1	3q27	2010-04-20	2007-09-19		ENSG00000058063	ENSG00000058063		"""ATPases / P-type"""	13553	protein-coding gene	gene with protein product		605869	"""ATPase, Class VI, type 11B"""			10231032, 11015572	Standard	NM_014616		Approved	ATPIF, ATPIR, KIAA0956	uc003flb.3	Q9Y2G3	OTTHUMG00000158295	ENST00000323116.5:c.2787T>A	3.37:g.182605445T>A	ENSP00000321195:p.Ser929Arg					ATP11B_uc003flc.2_Missense_Mutation_p.S513R|ATP11B_uc011bqm.1_Missense_Mutation_p.S210T|ATP11B_uc010hxf.1_Missense_Mutation_p.S91R	p.S929R	NM_014616	NP_055431	Q9Y2G3	AT11B_HUMAN	all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)		24	3044	+	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		929			Helical; (Potential).		Q96FN1|Q9UKK7	Missense_Mutation	SNP	ENST00000323116.5	37	c.2787T>A	CCDS33896.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	27.9|27.9	4.876388|4.876388	0.91664|0.91664	.|.	.|.	ENSG00000058063|ENSG00000058063	ENST00000323116;ENST00000482070|ENST00000498086	D;D|.	0.89415|.	-2.51;-2.38|.	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	0.039567|.	0.85682|.	D|.	0.000000|.	D|D	0.83566|0.83566	0.5282|0.5282	M|M	0.89601|0.89601	3.045|3.045	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.999;0.997|.	D;D|.	0.83275|.	0.996;0.961|.	D|D	0.86870|0.86870	0.2035|0.2035	10|5	0.87932|.	D|.	0|.	.|.	15.4307|15.4307	0.75092|0.75092	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	503;929|.	B3KSJ2;Q9Y2G3|.	.;AT11B_HUMAN|.	R|D	929;144|730	ENSP00000321195:S929R;ENSP00000417124:S144R|.	ENSP00000321195:S929R|.	S|V	+|+	3|2	2|0	ATP11B|ATP11B	184088139|184088139	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	3.297000|3.297000	0.51810|0.51810	2.052000|2.052000	0.61016|0.61016	0.460000|0.460000	0.39030|0.39030	AGT|GTC		PASS	0.343	ATP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350598.1	NM_014616		27	517	27	517	---	---	---	---
EIF4G1	1981	broad.mit.edu	37	3	184039421	184039421	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr3:184039421C>T	ENST00000346169.2	+	10	1320	c.1049C>T	c.(1048-1050)cCt>cTt	p.P350L	EIF4G1_ENST00000424196.1_Missense_Mutation_p.P357L|EIF4G1_ENST00000392537.2_Missense_Mutation_p.P263L|EIF4G1_ENST00000350481.5_Missense_Mutation_p.P186L|EIF4G1_ENST00000435046.2_Missense_Mutation_p.P154L|EIF4G1_ENST00000319274.6_Missense_Mutation_p.P350L|EIF4G1_ENST00000414031.1_Missense_Mutation_p.P310L|EIF4G1_ENST00000427845.1_Missense_Mutation_p.P263L|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000434061.2_Missense_Mutation_p.P154L|EIF4G1_ENST00000342981.4_Missense_Mutation_p.P350L|EIF4G1_ENST00000441154.1_Missense_Mutation_p.P186L|EIF4G1_ENST00000411531.1_Missense_Mutation_p.P310L|EIF4G1_ENST00000352767.3_Missense_Mutation_p.P357L|EIF4G1_ENST00000382330.3_Missense_Mutation_p.P357L	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	350					cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.P350L(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCTCCCACCCCTTTGGCATCT	0.532																																						uc003fnp.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7						c.(1048-1050)CCT>CTT		eukaryotic translation initiation factor 4							97.0	96.0	96.0					3																	184039421		2203	4300	6503	SO:0001583	missense	1981				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr3:184039421C>T	D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.1049C>T	3.37:g.184039421C>T	ENSP00000316879:p.Pro350Leu					EIF4G1_uc003fno.1_Missense_Mutation_p.P291L|EIF4G1_uc010hxw.1_Missense_Mutation_p.P186L|EIF4G1_uc003fnt.2_Missense_Mutation_p.P61L|EIF4G1_uc003fnq.2_Missense_Mutation_p.P263L|EIF4G1_uc003fnr.2_Missense_Mutation_p.P186L|EIF4G1_uc010hxx.2_Missense_Mutation_p.P357L|EIF4G1_uc003fns.2_Missense_Mutation_p.P310L|EIF4G1_uc010hxy.2_Missense_Mutation_p.P357L|EIF4G1_uc003fnv.3_Missense_Mutation_p.P350L|EIF4G1_uc003fnu.3_Missense_Mutation_p.P350L|EIF4G1_uc003fnw.2_Missense_Mutation_p.P357L|EIF4G1_uc003fnx.2_Missense_Mutation_p.P154L|EIF4G1_uc003fny.3_Missense_Mutation_p.P154L	p.P350L	NM_198241	NP_937884	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		10	1247	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		350					D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	ENST00000346169.2	37	c.1049C>T	CCDS3259.1	.	.	.	.	.	.	.	.	.	.	C	4.620	0.115313	0.08831	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000450424;ENST00000421110;ENST00000382330;ENST00000426123;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000444861;ENST00000441154;ENST00000434061;ENST00000427607;ENST00000457456;ENST00000435046	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.46451	3.82;3.84;3.69;2.8;2.8;3.83;2.95;3.62;3.83;3.74;3.83;3.82;3.83;3.82;2.4;3.65;3.72;0.87;1.08;3.74	5.2	4.32	0.51571	.	0.822874	0.11509	N	0.556895	T	0.27933	0.0688	N	0.19112	0.55	0.09310	N	0.999999	B;B;B;B	0.20052	0.041;0.0;0.041;0.0	B;B;B;B	0.21917	0.037;0.0;0.037;0.0	T	0.04153	-1.0973	10	0.45353	T	0.12	-3.4932	7.3142	0.26491	0.0:0.8515:0.0:0.1485	.	357;350;350;357	E9PFM1;D3DNT2;Q04637;B2RU10	.;.;IF4G1_HUMAN;.	L	350;310;263;350;357;357;291;186;357;263;350;350;357;310;186;186;154;154;154;154	ENSP00000316879:P350L;ENSP00000391935:P310L;ENSP00000376320:P263L;ENSP00000391412:P350L;ENSP00000413159:P357L;ENSP00000371767:P357L;ENSP00000403269:P291L;ENSP00000317600:P186L;ENSP00000338020:P357L;ENSP00000407682:P263L;ENSP00000343450:P350L;ENSP00000323737:P350L;ENSP00000416255:P357L;ENSP00000395974:P310L;ENSP00000398145:P186L;ENSP00000399858:P186L;ENSP00000411826:P154L;ENSP00000409545:P154L;ENSP00000399969:P154L;ENSP00000404754:P154L	ENSP00000323737:P350L	P	+	2	0	EIF4G1	185522115	0.000000	0.05858	0.021000	0.16686	0.062000	0.15995	0.776000	0.26704	2.861000	0.98227	0.655000	0.94253	CCT		PASS	0.532	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		77	832	77	832	---	---	---	---
ATP13A4	84239	broad.mit.edu	37	3	193185167	193185167	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr3:193185167G>T	ENST00000342695.4	-	10	1374	c.1052C>A	c.(1051-1053)aCa>aAa	p.T351K	ATP13A4_ENST00000295548.3_Missense_Mutation_p.T351K|ATP13A4_ENST00000392443.3_Missense_Mutation_p.T351K	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	351						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.T351K(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		GATAACCTCTGTTCCACAGAA	0.493																																						uc003ftd.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1051-1053)ACA>AAA		ATPase type 13A4							108.0	100.0	103.0					3																	193185167		2203	4300	6503	SO:0001583	missense	84239				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193185167G>T	AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"""ATPases / P-type"""	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.1052C>A	3.37:g.193185167G>T	ENSP00000339182:p.Thr351Lys					ATP13A4_uc003fte.1_Missense_Mutation_p.T351K|ATP13A4_uc011bsr.1_5'UTR|ATP13A4_uc010hzi.2_RNA|ATP13A4_uc003ftf.3_Missense_Mutation_p.T57K	p.T351K	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)	10	1160	-	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		351			Extracellular (Potential).		B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Missense_Mutation	SNP	ENST00000342695.4	37	c.1052C>A	CCDS3304.2	.	.	.	.	.	.	.	.	.	.	G	35	5.502876	0.96371	.	.	ENSG00000127249	ENST00000392443;ENST00000342695;ENST00000295548	D;D;D	0.93659	-3.26;-3.26;-3.26	6.16	6.16	0.99307	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.98090	0.9370	H	0.98218	4.175	0.80722	D	1	D;D;D	0.57899	0.972;0.981;0.973	P;P;D	0.63113	0.844;0.856;0.911	D	0.98616	1.0665	9	.	.	.	-9.6006	19.848	0.96722	0.0:0.0:1.0:0.0	.	351;351;351	Q4VNC1-3;Q4VNC1-2;Q4VNC1	.;.;AT134_HUMAN	K	351	ENSP00000376238:T351K;ENSP00000339182:T351K;ENSP00000295548:T351K	.	T	-	2	0	ATP13A4	194667861	1.000000	0.71417	0.956000	0.39512	0.973000	0.67179	9.712000	0.98738	2.937000	0.99478	0.650000	0.86243	ACA		PASS	0.493	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4	NM_032279		29	324	29	324	---	---	---	---
CLNK	116449	broad.mit.edu	37	4	10509582	10509582	+	Splice_Site	SNP	C	C	T			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr4:10509582C>T	ENST00000226951.6	-	17	1224		c.e17+1		CLNK_ENST00000515667.1_Splice_Site	NM_052964.2	NP_443196.2	Q7Z7G1	CLNK_HUMAN	cytokine-dependent hematopoietic cell linker						immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|positive regulation of signal transduction (GO:0009967)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	intracellular (GO:0005622)	SH3/SH2 adaptor activity (GO:0005070)	p.?(2)		NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						GAAGGCATTACCTTGTTCTCC	0.433																																					GBM(87;402 1286 6949 13902 35851)	uc003gmo.3																			2	Unknown(2)		lung(2)	ovary(1)	1						c.e17+1		mast cell immunoreceptor signal transducer							111.0	101.0	104.0					4																	10509582		1949	4165	6114	SO:0001630	splice_region_variant	116449				immune response|intracellular signal transduction	intracellular	SH3/SH2 adaptor activity	g.chr4:10509582C>T	AB032369	CCDS47024.1	4p16.1	2013-02-14			ENSG00000109684	ENSG00000109684		"""SH2 domain containing"""	17438	protein-coding gene	gene with protein product	"""mast cell immunoreceptor signal transducer"""	611434				10562326, 10744659	Standard	NM_052964		Approved	MIST	uc003gmo.4	Q7Z7G1	OTTHUMG00000160062	ENST00000226951.6:c.984+1G>A	4.37:g.10509582C>T							p.K328_splice	NM_052964	NP_443196	Q7Z7G1	CLNK_HUMAN			17	1121	-								Q05C27|Q9P2U9	Splice_Site	SNP	ENST00000226951.6	37	c.984_splice	CCDS47024.1	.	.	.	.	.	.	.	.	.	.	C	14.15	2.448350	0.43429	.	.	ENSG00000109684	ENST00000226951;ENST00000515667;ENST00000429087	.	.	.	5.33	5.33	0.75918	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9056	0.70715	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CLNK	10118680	1.000000	0.71417	1.000000	0.80357	0.413000	0.31143	3.835000	0.55805	2.653000	0.90120	0.561000	0.74099	.		PASS	0.433	CLNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359047.1	NM_052964	Intron	12	24	12	24	---	---	---	---
BOD1L1	259282	broad.mit.edu	37	4	13603126	13603126	+	Nonsense_Mutation	SNP	C	C	A			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr4:13603126C>A	ENST00000040738.5	-	10	5533	c.5398G>T	c.(5398-5400)Gga>Tga	p.G1800*		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	1800						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.G1800*(1)									GGCCCCTCTCCATCTTCTGTT	0.502																																						uc003gmz.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(5)|breast(1)	6						c.(5398-5400)GGA>TGA		biorientation of chromosomes in cell division							190.0	196.0	194.0					4																	13603126		2203	4300	6503	SO:0001587	stop_gained	259282						DNA binding	g.chr4:13603126C>A	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.5398G>T	4.37:g.13603126C>A	ENSP00000040738:p.Gly1800*					BOD1L_uc010idr.1_Nonsense_Mutation_p.G1137*	p.G1800*	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN			10	5515	-			1800					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Nonsense_Mutation	SNP	ENST00000040738.5	37	c.5398G>T	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	C	44	10.935828	0.99491	.	.	ENSG00000038219	ENST00000040738	.	.	.	4.84	4.0	0.46444	.	0.000000	0.56097	D	0.000028	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-13.6422	12.9687	0.58499	0.0:0.9208:0.0:0.0792	.	.	.	.	X	1800	.	ENSP00000040738:G1800X	G	-	1	0	BOD1L	13212224	0.237000	0.23815	0.129000	0.21949	0.406000	0.30931	1.807000	0.38902	1.019000	0.39547	0.561000	0.74099	GGA		PASS	0.502	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		207	317	207	317	---	---	---	---
SHISA3	152573	broad.mit.edu	37	4	42403074	42403074	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr4:42403074C>A	ENST00000319234.4	+	2	541	c.323C>A	c.(322-324)gCg>gAg	p.A108E		NM_001080505.1	NP_001073974.1	A0PJX4	SHSA3_HUMAN	shisa family member 3	108					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.A108E(1)		endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	12						ATCTTCATTGCGTTCATCATC	0.498																																						uc003gwp.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(322-324)GCG>GAG		shisa homolog 3 precursor							216.0	216.0	216.0					4																	42403074		2203	4300	6503	SO:0001583	missense	152573				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane		g.chr4:42403074C>A	BC012029	CCDS33979.1	4p13	2013-07-31	2013-07-31		ENSG00000178343	ENSG00000178343		"""Shisa homologs"""	25159	protein-coding gene	gene with protein product			"""shisa homolog 3 (Xenopus laevis)"""				Standard	NM_001080505		Approved	hShisa3	uc003gwp.3	A0PJX4	OTTHUMG00000161043	ENST00000319234.4:c.323C>A	4.37:g.42403074C>A	ENSP00000326445:p.Ala108Glu						p.A108E	NM_001080505	NP_001073974	A0PJX4	SHSA3_HUMAN			2	541	+			108			Helical; (Potential).		A0PJX3|Q96EQ5	Missense_Mutation	SNP	ENST00000319234.4	37	c.323C>A	CCDS33979.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.020000	0.93462	.	.	ENSG00000178343	ENST00000319234	T	0.45276	0.9	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.66925	0.2839	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.71151	-0.4676	10	0.72032	D	0.01	-21.5645	17.9622	0.89089	0.0:1.0:0.0:0.0	.	108	A0PJX4	SHSA3_HUMAN	E	108	ENSP00000326445:A108E	ENSP00000326445:A108E	A	+	2	0	SHISA3	42097831	1.000000	0.71417	0.896000	0.35187	0.992000	0.81027	7.651000	0.83577	2.582000	0.87167	0.655000	0.94253	GCG		PASS	0.498	SHISA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363539.1	NM_001080505		221	314	221	314	---	---	---	---
ATP10D	57205	broad.mit.edu	37	4	47527587	47527587	+	Missense_Mutation	SNP	A	A	C			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr4:47527587A>C	ENST00000273859.3	+	5	973	c.704A>C	c.(703-705)gAt>gCt	p.D235A	ATP10D_ENST00000504445.1_Missense_Mutation_p.D235A	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	235					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|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.D235A(1)		NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						TCTGAAGTTGATCCTGAGAAG	0.338																																						uc003gxk.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(703-705)GAT>GCT		ATPase, class V, type 10D							76.0	76.0	76.0					4																	47527587		2203	4300	6503	SO:0001583	missense	57205				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:47527587A>C	AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"""ATPases / P-type"""	13549	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10D"""			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.704A>C	4.37:g.47527587A>C	ENSP00000273859:p.Asp235Ala					ATP10D_uc003gxj.3_Missense_Mutation_p.D235A	p.D235A	NM_020453	NP_065186	Q9P241	AT10D_HUMAN			5	868	+			235			Cytoplasmic (Potential).		A2RRC8|D6REN2|Q8NC70|Q96SR3	Missense_Mutation	SNP	ENST00000273859.3	37	c.704A>C	CCDS3476.1	.	.	.	.	.	.	.	.	.	.	A	14.16	2.452599	0.43531	.	.	ENSG00000145246	ENST00000273859;ENST00000504445	T;T	0.74209	-0.82;-0.82	5.76	5.76	0.90799	ATPase, P-type, ATPase-associated domain (1);	0.173164	0.51477	D	0.000096	T	0.75317	0.3833	L	0.60845	1.875	0.28254	N	0.925152	P;B	0.37233	0.588;0.261	B;B	0.42062	0.374;0.159	T	0.73467	-0.3973	10	0.52906	T	0.07	-24.2219	15.5501	0.76145	1.0:0.0:0.0:0.0	.	235;235	Q9P241;Q6PEW3	AT10D_HUMAN;.	A	235	ENSP00000273859:D235A;ENSP00000420909:D235A	ENSP00000273859:D235A	D	+	2	0	ATP10D	47222344	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	5.254000	0.65457	2.315000	0.78130	0.533000	0.62120	GAT		PASS	0.338	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1	NM_020453		38	49	38	49	---	---	---	---
SRD5A3	79644	broad.mit.edu	37	4	56225538	56225538	+	Missense_Mutation	SNP	T	T	C			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr4:56225538T>C	ENST00000264228.4	+	2	475	c.247T>C	c.(247-249)Tca>Cca	p.S83P	SRD5A3_ENST00000514398.1_3'UTR	NM_024592.4	NP_078868.1	Q9H8P0	PORED_HUMAN	steroid 5 alpha-reductase 3	83					androgen biosynthetic process (GO:0006702)|cellular protein metabolic process (GO:0044267)|dolichol metabolic process (GO:0019348)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|polyprenol catabolic process (GO:0016095)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	3-oxo-5-alpha-steroid 4-dehydrogenase activity (GO:0003865)|cholestenone 5-alpha-reductase activity (GO:0047751)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)	p.S83P(1)		cervix(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.0179)		Spironolactone(DB00421)	TTATATCATCTCAGTGCTGTG	0.423																																						uc003hau.2																			1	Substitution - Missense(1)		lung(1)		0						c.(247-249)TCA>CCA		steroid 5 alpha-reductase 3							301.0	287.0	292.0					4																	56225538		2203	4300	6503	SO:0001583	missense	79644				androgen biosynthetic process|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|polyprenol catabolic process	endoplasmic reticulum membrane|integral to membrane	3-oxo-5-alpha-steroid 4-dehydrogenase activity|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor	g.chr4:56225538T>C	AK023414	CCDS3498.1	4q12	2009-07-21			ENSG00000128039	ENSG00000128039			25812	protein-coding gene	gene with protein product		611715				17986282	Standard	NM_024592		Approved	FLJ13352, SRD5A2L, SRD5A2L1	uc003hau.3	Q9H8P0	OTTHUMG00000128733	ENST00000264228.4:c.247T>C	4.37:g.56225538T>C	ENSP00000264228:p.Ser83Pro						p.S83P	NM_024592	NP_078868	Q9H8P0	PORED_HUMAN	Epithelial(7;0.0179)		2	342	+	all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101)		83			Helical; (Potential).		Q4W5Q6	Missense_Mutation	SNP	ENST00000264228.4	37	c.247T>C	CCDS3498.1	.	.	.	.	.	.	.	.	.	.	T	13.04	2.118385	0.37339	.	.	ENSG00000128039	ENST00000264228;ENST00000505210	T;T	0.39997	1.05;2.04	5.23	4.02	0.46733	.	0.000000	0.85682	D	0.000000	T	0.46444	0.1393	M	0.83012	2.62	0.58432	D	0.999995	B	0.30914	0.3	B	0.28916	0.096	T	0.47799	-0.9089	10	0.49607	T	0.09	.	12.3747	0.55273	0.0:0.0:0.141:0.859	.	83	Q9H8P0	PORED_HUMAN	P	83;58	ENSP00000264228:S83P;ENSP00000424714:S58P	ENSP00000264228:S83P	S	+	1	0	SRD5A3	55920295	1.000000	0.71417	0.825000	0.32803	0.540000	0.34992	4.251000	0.58778	0.895000	0.36342	0.460000	0.39030	TCA		PASS	0.423	SRD5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250644.2	NM_024592		14	840	14	840	---	---	---	---
CLOCK	9575	broad.mit.edu	37	4	56301641	56301641	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr4:56301641G>T	ENST00000309964.4	-	22	2732	c.2482C>A	c.(2482-2484)Caa>Aaa	p.Q828K	CLOCK_ENST00000513440.1_Missense_Mutation_p.Q828K|CLOCK_ENST00000381322.1_Missense_Mutation_p.Q828K	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	828	Interaction with NR3C1. {ECO:0000250|UniProtKB:O08785}.|Poly-Gln.				cellular response to ionizing radiation (GO:0071479)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA damage checkpoint (GO:0000077)|histone acetylation (GO:0016573)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of transcription, DNA-templated (GO:0045892)|photoperiodism (GO:0009648)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|chromosome (GO:0005694)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone acetyltransferase activity (GO:0004402)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.Q828K(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			CGGCTGAGTTGCTGCTGTTGC	0.527																																						uc003haz.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(2482-2484)CAA>AAA		clock							263.0	222.0	236.0					4																	56301641		2203	4300	6503	SO:0001583	missense	9575				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr4:56301641G>T	AF011568	CCDS3500.1	4q12	2012-12-07	2012-12-07		ENSG00000134852	ENSG00000134852		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	2082	protein-coding gene	gene with protein product		601851	"""clock (mouse) homolog"", ""clock homolog (mouse)"""			10198158	Standard	NM_001267843		Approved	KIAA0334, KAT13D, bHLHe8	uc003hba.2	O15516	OTTHUMG00000102141	ENST00000309964.4:c.2482C>A	4.37:g.56301641G>T	ENSP00000308741:p.Gln828Lys					CLOCK_uc003hba.1_Missense_Mutation_p.Q828K|CLOCK_uc010igu.1_RNA	p.Q828K	NM_004898	NP_004889	O15516	CLOCK_HUMAN	LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)		24	3408	-	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		828			Poly-Gln.		A0AV01|A2I2N9|O14516|Q9UIT8	Missense_Mutation	SNP	ENST00000309964.4	37	c.2482C>A	CCDS3500.1	.	.	.	.	.	.	.	.	.	.	G	11.12	1.545026	0.27652	.	.	ENSG00000134852	ENST00000309964;ENST00000381322;ENST00000513440	T;T;T	0.04454	3.62;3.62;3.62	5.67	5.67	0.87782	.	0.361683	0.32769	N	0.005675	T	0.06690	0.0171	L	0.50333	1.59	0.47123	D	0.999327	B	0.09022	0.002	B	0.04013	0.001	T	0.28744	-1.0034	10	0.07030	T	0.85	.	19.3716	0.94490	0.0:0.0:1.0:0.0	.	828	O15516	CLOCK_HUMAN	K	828	ENSP00000308741:Q828K;ENSP00000370723:Q828K;ENSP00000426983:Q828K	ENSP00000308741:Q828K	Q	-	1	0	CLOCK	55996398	1.000000	0.71417	0.997000	0.53966	0.432000	0.31715	6.507000	0.73717	2.670000	0.90874	0.655000	0.94253	CAA		PASS	0.527	CLOCK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361993.2	NM_004898		16	232	16	232	---	---	---	---
POLR2B	5431	broad.mit.edu	37	4	57889495	57889495	+	Splice_Site	SNP	G	G	A			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr4:57889495G>A	ENST00000381227.1	+	20	2928		c.e20-1		POLR2B_ENST00000441246.2_Splice_Site|POLR2B_ENST00000314595.5_Splice_Site|POLR2B_ENST00000431623.2_Splice_Site			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa						7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonucleoside binding (GO:0032549)	p.?(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					TTTCCTCACAGGCATGAGGCA	0.438																																						uc003hcl.1																			1	Unknown(1)		lung(1)	ovary(2)	2						c.e19-1		DNA directed RNA polymerase II polypeptide B							75.0	69.0	71.0					4																	57889495		2203	4300	6503	SO:0001630	splice_region_variant	5431				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	g.chr4:57889495G>A		CCDS3511.1	4q12	2013-01-21	2002-08-29		ENSG00000047315	ENSG00000047315		"""RNA polymerase subunits"""	9188	protein-coding gene	gene with protein product		180661	"""polymerase (RNA) II (DNA directed) polypeptide B (140kD)"""			1518060, 8034326	Standard	NM_000938		Approved	RPB2	uc003hcl.1	P30876	OTTHUMG00000128771	ENST00000381227.1:c.2516-1G>A	4.37:g.57889495G>A						POLR2B_uc011cae.1_Splice_Site_p.G832_splice|POLR2B_uc011caf.1_Splice_Site_p.G764_splice|POLR2B_uc003hcm.1_Splice_Site_p.G332_splice	p.G839_splice	NM_000938	NP_000929	P30876	RPB2_HUMAN			19	2559	+	Glioma(25;0.08)|all_neural(26;0.181)							A8K1A8|Q8IZ61	Splice_Site	SNP	ENST00000381227.1	37	c.2516_splice	CCDS3511.1	.	.	.	.	.	.	.	.	.	.	G	17.02	3.282619	0.59867	.	.	ENSG00000047315	ENST00000381227;ENST00000431623;ENST00000441246;ENST00000314595	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6296	0.95694	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	POLR2B	57584252	1.000000	0.71417	0.984000	0.44739	0.603000	0.37013	9.657000	0.98554	2.873000	0.98535	0.563000	0.77884	.		PASS	0.438	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250692.1	NM_000938	Intron	44	113	44	113	---	---	---	---
FAM175A	84142	broad.mit.edu	37	4	84391519	84391519	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr4:84391519G>A	ENST00000321945.7	-	5	421	c.313C>T	c.(313-315)Cat>Tat	p.H105Y	FAM175A_ENST00000506553.1_Missense_Mutation_p.H56Y|FAM175A_ENST00000505489.1_5'UTR	NM_139076.2	NP_620775.2	Q6UWZ7	F175A_HUMAN	family with sequence similarity 175, member A	105	MPN-like.				chromatin modification (GO:0016568)|double-strand break repair (GO:0006302)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of DNA repair (GO:0045739)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|nucleus (GO:0005634)	polyubiquitin binding (GO:0031593)	p.H105Y(1)|p.H105D(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	13						TGATCTGAATGACGACGGAAT	0.333																																						uc003hou.2																			2	Substitution - Missense(2)		lung(2)	kidney(1)	1						c.(313-315)CAT>TAT		coiled-coil domain containing 98							111.0	120.0	117.0					4																	84391519		2203	4300	6503	SO:0001583	missense	84142				chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of DNA repair|response to ionizing radiation	BRCA1-A complex	polyubiquitin binding	g.chr4:84391519G>A	AK023676	CCDS3605.2	4q21.23	2008-10-31	2008-07-02	2008-07-02	ENSG00000163322	ENSG00000163322			25829	protein-coding gene	gene with protein product	"""Abraxas protein"""	611143	"""coiled-coil domain containing 98"""	CCDC98		12975309, 17525340	Standard	NM_139076		Approved	FLJ13614, ABRA1	uc003hou.2	Q6UWZ7	OTTHUMG00000130429	ENST00000321945.7:c.313C>T	4.37:g.84391519G>A	ENSP00000369857:p.His105Tyr					FAM175A_uc003hot.2_5'Flank|FAM175A_uc003hov.2_5'UTR	p.H105Y	NM_139076	NP_620775	Q6UWZ7	F175A_HUMAN			5	378	-			105			MPN-like.		A5JJ07|Q9H8I1|Q9H9N4	Missense_Mutation	SNP	ENST00000321945.7	37	c.313C>T	CCDS3605.2	.	.	.	.	.	.	.	.	.	.	G	23.0	4.364748	0.82463	.	.	ENSG00000163322	ENST00000321945;ENST00000506553;ENST00000511801	T;T	0.44083	0.93;0.93	5.9	4.98	0.66077	.	0.044508	0.85682	D	0.000000	T	0.39064	0.1064	N	0.22421	0.69	0.80722	D	1	D	0.53745	0.962	P	0.51453	0.67	T	0.22871	-1.0204	10	0.72032	D	0.01	-16.2008	11.6302	0.51168	0.0:0.0:0.619:0.381	.	105	Q6UWZ7	F175A_HUMAN	Y	105;56;56	ENSP00000369857:H105Y;ENSP00000426763:H56Y	ENSP00000369857:H105Y	H	-	1	0	FAM175A	84610543	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.392000	0.66272	2.786000	0.95864	0.563000	0.77884	CAT		PASS	0.333	FAM175A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252818.1	NM_139076		139	360	139	360	---	---	---	---
TRAM1L1	133022	broad.mit.edu	37	4	118005478	118005478	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr4:118005478C>A	ENST00000310754.4	-	1	1258	c.1072G>T	c.(1072-1074)Gta>Tta	p.V358L		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	358					protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.V358L(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						GGACAGTCTACTCTATTTGAA	0.383																																						uc003ibv.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1072-1074)GTA>TTA		translocation associated membrane protein 1-like							148.0	153.0	152.0					4																	118005478		2203	4300	6503	SO:0001583	missense	133022				protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane		g.chr4:118005478C>A	AK074617	CCDS3707.1	4q26	2008-02-05			ENSG00000174599	ENSG00000174599			28371	protein-coding gene	gene with protein product						12477932	Standard	NM_152402		Approved	MGC26568	uc003ibv.4	Q8N609	OTTHUMG00000132956	ENST00000310754.4:c.1072G>T	4.37:g.118005478C>A	ENSP00000309402:p.Val358Leu						p.V358L	NM_152402	NP_689615	Q8N609	TR1L1_HUMAN			1	1259	-			358			Cytoplasmic (Potential).		Q8N2L7	Missense_Mutation	SNP	ENST00000310754.4	37	c.1072G>T	CCDS3707.1	.	.	.	.	.	.	.	.	.	.	C	7.105	0.574793	0.13623	.	.	ENSG00000174599	ENST00000310754	T	0.42131	0.98	3.74	-0.24	0.13047	.	0.321554	0.34603	N	0.003840	T	0.15565	0.0375	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.08411	-1.0723	10	0.25106	T	0.35	-14.2684	1.7732	0.03016	0.1633:0.4741:0.1596:0.203	.	358	Q8N609	TR1L1_HUMAN	L	358	ENSP00000309402:V358L	ENSP00000309402:V358L	V	-	1	0	TRAM1L1	118224926	0.995000	0.38212	0.000000	0.03702	0.629000	0.37895	1.028000	0.30128	-0.087000	0.12528	-0.142000	0.14014	GTA		PASS	0.383	TRAM1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256513.1	NM_152402		191	334	191	334	---	---	---	---
TRAM1L1	133022	broad.mit.edu	37	4	118005532	118005532	+	Nonsense_Mutation	SNP	T	T	A			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr4:118005532T>A	ENST00000310754.4	-	1	1204	c.1018A>T	c.(1018-1020)Aga>Tga	p.R340*		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	340					protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.R340*(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						TTAGAAGATCTCGACCGTTTC	0.398																																						uc003ibv.3																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(1)	1						c.(1018-1020)AGA>TGA		translocation associated membrane protein 1-like							156.0	161.0	160.0					4																	118005532		2203	4300	6503	SO:0001587	stop_gained	133022				protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane		g.chr4:118005532T>A	AK074617	CCDS3707.1	4q26	2008-02-05			ENSG00000174599	ENSG00000174599			28371	protein-coding gene	gene with protein product						12477932	Standard	NM_152402		Approved	MGC26568	uc003ibv.4	Q8N609	OTTHUMG00000132956	ENST00000310754.4:c.1018A>T	4.37:g.118005532T>A	ENSP00000309402:p.Arg340*						p.R340*	NM_152402	NP_689615	Q8N609	TR1L1_HUMAN			1	1205	-			340			Cytoplasmic (Potential).		Q8N2L7	Nonsense_Mutation	SNP	ENST00000310754.4	37	c.1018A>T	CCDS3707.1	.	.	.	.	.	.	.	.	.	.	T	18.15	3.560012	0.65538	.	.	ENSG00000174599	ENST00000310754	.	.	.	3.92	0.0183	0.14116	.	152.950000	0.00166	N	0.000008	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-30.2263	4.582	0.12264	0.0:0.1083:0.3986:0.4931	.	.	.	.	X	340	.	ENSP00000309402:R340X	R	-	1	2	TRAM1L1	118224980	0.000000	0.05858	0.004000	0.12327	0.132000	0.20833	0.373000	0.20484	0.021000	0.15133	0.528000	0.53228	AGA		PASS	0.398	TRAM1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256513.1	NM_152402		216	320	216	320	---	---	---	---
FBXW7	55294	broad.mit.edu	37	4	153247252	153247252	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr4:153247252C>T	ENST00000281708.4	-	10	2779	c.1550G>A	c.(1549-1551)gGa>gAa	p.G517E	FBXW7_ENST00000603548.1_Missense_Mutation_p.G517E|FBXW7_ENST00000263981.5_Missense_Mutation_p.G437E|FBXW7_ENST00000393956.3_Missense_Mutation_p.G341E|FBXW7_ENST00000603841.1_Missense_Mutation_p.G517E|FBXW7_ENST00000296555.5_Missense_Mutation_p.G399E	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	517					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.G517E(2)|p.G399E(1)|p.G437E(1)|p.G278E(1)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				ATCATATGCTCCACTAACAAC	0.443			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	uc003ims.2				Rec	yes		4	4q31.3	55294	Mis|N|D|F	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""			"""E, L"""			colorectal|endometrial|T-ALL		6	Substitution - Missense(5)|Unknown(1)		lung(5)|haematopoietic_and_lymphoid_tissue(1)	haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1)	308						c.(1549-1551)GGA>GAA		F-box and WD repeat domain containing 7 isoform							190.0	183.0	186.0					4																	153247252		2203	4300	6503	SO:0001583	missense	55294				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding	g.chr4:153247252C>T	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1550G>A	4.37:g.153247252C>T	ENSP00000281708:p.Gly517Glu					FBXW7_uc011cii.1_Missense_Mutation_p.G517E|FBXW7_uc003imt.2_Missense_Mutation_p.G517E|FBXW7_uc011cih.1_Missense_Mutation_p.G341E|FBXW7_uc003imq.2_Missense_Mutation_p.G437E|FBXW7_uc003imr.2_Missense_Mutation_p.G399E	p.G517E	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN			10	1699	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	517			WD 4.		B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	c.1550G>A	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	C	31	5.068689	0.93950	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.72051	-0.62;-0.62;-0.62;-0.62	5.72	5.72	0.89469	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.91506	0.7318	H	0.98936	4.375	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.94215	0.7462	10	0.87932	D	0	-19.3185	20.2406	0.98372	0.0:1.0:0.0:0.0	.	341;517;399;437	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	E	517;399;437;341	ENSP00000281708:G517E;ENSP00000296555:G399E;ENSP00000263981:G437E;ENSP00000377528:G341E	ENSP00000263981:G437E	G	-	2	0	FBXW7	153466702	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.744000	0.85034	2.857000	0.98124	0.650000	0.86243	GGA		PASS	0.443	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			99	145	99	145	---	---	---	---
SLC6A3	6531	broad.mit.edu	37	5	1441537	1441537	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr5:1441537C>A	ENST00000270349.9	-	3	482	c.355G>T	c.(355-357)Gcc>Tcc	p.A119S	SLC6A3_ENST00000453492.2_Missense_Mutation_p.A119S	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	119					adenohypophysis development (GO:0021984)|aging (GO:0007568)|cation transmembrane transport (GO:0098655)|cell death (GO:0008219)|dopamine biosynthetic process (GO:0042416)|dopamine catabolic process (GO:0042420)|dopamine transport (GO:0015872)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|neurotransmitter biosynthetic process (GO:0042136)|positive regulation of multicellular organism growth (GO:0040018)|prepulse inhibition (GO:0060134)|regulation of dopamine metabolic process (GO:0042053)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|sensory perception of smell (GO:0007608)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine transmembrane transporter activity (GO:0005329)|dopamine:sodium symporter activity (GO:0005330)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)	p.A119S(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	TGGCCGAGGGCCAGCTCCATG	0.582																																						uc003jck.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(2)|pancreas(1)	6						c.(355-357)GCC>TCC		solute carrier family 6 (neurotransmitter	Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)						57.0	52.0	53.0					5																	1441537		2203	4300	6503	SO:0001583	missense	6531				cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body		g.chr5:1441537C>A		CCDS3863.1	5p15.3	2013-07-19	2013-07-19		ENSG00000142319	ENSG00000142319		"""Solute carriers"""	11049	protein-coding gene	gene with protein product	"""dopamine transporter"""	126455	"""solute carrier family 6 (neurotransmitter transporter, dopamine), member 3"", ""dopamine transporter 1"""	DAT1		1406597	Standard	NM_001044		Approved	DAT	uc003jck.3	Q01959	OTTHUMG00000131016	ENST00000270349.9:c.355G>T	5.37:g.1441537C>A	ENSP00000270349:p.Ala119Ser						p.A119S	NM_001044	NP_001035	Q01959	SC6A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		3	476	-			119					A2RUN4|Q14996	Missense_Mutation	SNP	ENST00000270349.9	37	c.355G>T	CCDS3863.1	.	.	.	.	.	.	.	.	.	.	C	17.57	3.422221	0.62622	.	.	ENSG00000142319	ENST00000270349;ENST00000453492;ENST00000513308	T;T;T	0.75260	-0.92;-0.92;-0.92	3.64	3.64	0.41730	.	0.057802	0.64402	N	0.000002	T	0.71417	0.3337	L	0.46567	1.45	0.58432	D	0.999994	B	0.28933	0.228	B	0.38683	0.279	T	0.70521	-0.4849	10	0.37606	T	0.19	.	13.1558	0.59516	0.0:1.0:0.0:0.0	.	119	Q01959	SC6A3_HUMAN	S	119;119;45	ENSP00000270349:A119S;ENSP00000399806:A119S;ENSP00000429101:A45S	ENSP00000270349:A119S	A	-	1	0	SLC6A3	1494537	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.082000	0.76851	1.735000	0.51646	0.561000	0.74099	GCC		PASS	0.582	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253650.3	NM_001044		15	115	15	115	---	---	---	---
CTNND2	1501	broad.mit.edu	37	5	11411724	11411724	+	Silent	SNP	G	G	T	rs143717087	byFrequency	TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr5:11411724G>T	ENST00000304623.8	-	5	552	c.363C>A	c.(361-363)ctC>ctA	p.L121L	CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000511377.1_Silent_p.L30L|CTNND2_ENST00000359640.2_Silent_p.L121L|CTNND2_ENST00000503622.1_Silent_p.L30L	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	121					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.L121L(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CCACCAGCTCGAGACCTGTTG	0.368																																						uc003jfa.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						c.(361-363)CTC>CTA		catenin (cadherin-associated protein), delta 2							117.0	109.0	111.0					5																	11411724		2203	4300	6503	SO:0001819	synonymous_variant	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11411724G>T	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.363C>A	5.37:g.11411724G>T						CTNND2_uc010itt.2_Silent_p.L30L|CTNND2_uc011cmy.1_Silent_p.L30L|CTNND2_uc011cmz.1_5'UTR|CTNND2_uc010itu.1_RNA	p.L121L	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN			5	508	-			121					B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Silent	SNP	ENST00000304623.8	37	c.363C>A	CCDS3881.1																																																																																				PASS	0.368	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		25	139	25	139	---	---	---	---
CDH12	1010	broad.mit.edu	37	5	21783478	21783478	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr5:21783478G>A	ENST00000382254.1	-	11	2468	c.1382C>T	c.(1381-1383)gCg>gTg	p.A461V	CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000522262.1_Missense_Mutation_p.A421V|CDH12_ENST00000504376.2_Missense_Mutation_p.A461V	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	461	Cadherin 4. {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)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A461V(1)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						AACTTTACTCGCAATTATGGA	0.378										HNSCC(59;0.17)																												uc010iuc.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1381-1383)GCG>GTG		cadherin 12, type 2 preproprotein							155.0	152.0	153.0					5																	21783478		2203	4300	6503	SO:0001583	missense	1010				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:21783478G>A	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.1382C>T	5.37:g.21783478G>A	ENSP00000371689:p.Ala461Val	HNSCC(59;0.17)				CDH12_uc011cno.1_Missense_Mutation_p.A421V|CDH12_uc003jgk.2_Missense_Mutation_p.A461V	p.A461V	NM_004061	NP_004052	P55289	CAD12_HUMAN			8	1840	-			461			Extracellular (Potential).|Cadherin 4.		B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	ENST00000382254.1	37	c.1382C>T	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.854073	0.91355	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.73363	-0.74;-0.74;-0.74	5.54	5.54	0.83059	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.86397	0.5923	M	0.76727	2.345	0.80722	D	1	D;D	0.76494	0.999;0.986	D;P	0.70935	0.971;0.667	D	0.87460	0.2407	10	0.87932	D	0	.	19.4807	0.95008	0.0:0.0:1.0:0.0	.	421;461	B7Z2U6;P55289	.;CAD12_HUMAN	V	461;461;421	ENSP00000423577:A461V;ENSP00000371689:A461V;ENSP00000428786:A421V	ENSP00000371689:A461V	A	-	2	0	CDH12	21819235	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.360000	0.97119	2.597000	0.87782	0.655000	0.94253	GCG		PASS	0.378	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		32	295	32	295	---	---	---	---
HCN1	348980	broad.mit.edu	37	5	45262532	45262532	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr5:45262532G>A	ENST00000303230.4	-	8	2221	c.2164C>T	c.(2164-2166)Ccc>Tcc	p.P722S		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	722					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.P722S(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GAGGCGGTGGGGGAGGCATAG	0.662																																						uc003jok.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2164-2166)CCC>TCC		hyperpolarization activated cyclic							35.0	36.0	35.0					5																	45262532		2203	4300	6503	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45262532G>A	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.2164C>T	5.37:g.45262532G>A	ENSP00000307342:p.Pro722Ser						p.P722S	NM_021072	NP_066550	O60741	HCN1_HUMAN			8	2189	-			722			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000303230.4	37	c.2164C>T	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	G	14.20	2.463837	0.43736	.	.	ENSG00000164588	ENST00000303230	T	0.71103	-0.54	5.52	5.52	0.82312	.	0.092906	0.46758	D	0.000265	T	0.63200	0.2491	L	0.43152	1.355	0.34772	D	0.733809	P	0.38922	0.651	B	0.33521	0.165	T	0.69030	-0.5253	10	0.23302	T	0.38	.	19.4505	0.94865	0.0:0.0:1.0:0.0	.	722	O60741	HCN1_HUMAN	S	722	ENSP00000307342:P722S	ENSP00000307342:P722S	P	-	1	0	HCN1	45298289	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	6.581000	0.74045	2.597000	0.87782	0.655000	0.94253	CCC		PASS	0.662	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		36	55	36	55	---	---	---	---
IPO11	51194	broad.mit.edu	37	5	61802098	61802098	+	Nonsense_Mutation	SNP	C	C	T			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr5:61802098C>T	ENST00000325324.6	+	19	1865	c.1696C>T	c.(1696-1698)Cag>Tag	p.Q566*	IPO11_ENST00000409296.3_Nonsense_Mutation_p.Q606*|KIF2A_ENST00000509663.2_Intron	NM_016338.4	NP_057422.3	Q9UI26	IPO11_HUMAN	importin 11	566					ribosomal protein import into nucleus (GO:0006610)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)	p.Q566*(1)		endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		ACTACTTTTTCAGTTACTGCA	0.333																																						uc003jtc.2																			1	Substitution - Nonsense(1)		lung(1)	lung(2)|skin(2)	4						c.(1696-1698)CAG>TAG		Ran binding protein 11 isoform 2							85.0	81.0	82.0					5																	61802098		2203	4300	6503	SO:0001587	stop_gained	51194					cytoplasm|nucleus	protein binding	g.chr5:61802098C>T	AF111109	CCDS34167.1, CCDS47217.1	5q12.1	2008-09-19			ENSG00000086200	ENSG00000086200		"""Importins"""	20628	protein-coding gene	gene with protein product		610889					Standard	NM_016338		Approved	RanBP11	uc011cqr.2	Q9UI26	OTTHUMG00000154400	ENST00000325324.6:c.1696C>T	5.37:g.61802098C>T	ENSP00000316651:p.Gln566*					IPO11_uc011cqr.1_Nonsense_Mutation_p.Q606*|IPO11_uc003jtd.1_RNA	p.Q566*	NM_016338	NP_057422	Q9UI26	IPO11_HUMAN		Lung(70;0.0613)	19	1886	+		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)	566			HEAT 7.		A6NGJ5|B4DZ73|D3DW98|Q8N5R2|Q9NSJ6|Q9NVB1	Nonsense_Mutation	SNP	ENST00000325324.6	37	c.1696C>T	CCDS34167.1	.	.	.	.	.	.	.	.	.	.	C	39	7.866467	0.98534	.	.	ENSG00000086200	ENST00000325324;ENST00000409296;ENST00000540553	.	.	.	5.53	5.53	0.82687	.	0.051438	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.3917	0.94585	0.0:1.0:0.0:0.0	.	.	.	.	X	566;606;136	.	ENSP00000316651:Q566X	Q	+	1	0	IPO11	61837855	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.197000	0.65141	2.744000	0.94065	0.655000	0.94253	CAG		PASS	0.333	IPO11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335062.1	NM_016338		18	67	18	67	---	---	---	---
SCAMP1	9522	broad.mit.edu	37	5	77771402	77771402	+	Missense_Mutation	SNP	A	A	T			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr5:77771402A>T	ENST00000538629.1	+	9	1085	c.928A>T	c.(928-930)Aac>Tac	p.N310Y	SCAMP1_ENST00000339292.4_3'UTR	NM_004866.4	NP_004857.4	O15126	SCAM1_HUMAN	secretory carrier membrane protein 1	310					endocytosis (GO:0006897)|exocytosis (GO:0006887)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)	clathrin-coated vesicle (GO:0030136)|integral component of membrane (GO:0016021)|recycling endosome membrane (GO:0055038)|synaptic vesicle membrane (GO:0030672)|trans-Golgi network (GO:0005802)|zymogen granule membrane (GO:0042589)							all_lung(232;0.000397)|Lung NSC(167;0.00105)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;1.9e-46)|Epithelial(54;9.4e-43)|all cancers(79;1.12e-37)		TGTGATGTCCAACAAAACTGT	0.458																																						uc003kfl.2																			0					0						c.(928-930)AAC>TAC		secretory carrier membrane protein 1							76.0	73.0	74.0					5																	77771402		1942	4133	6075	SO:0001583	missense	9522				post-Golgi vesicle-mediated transport|protein transport	integral to membrane|recycling endosome membrane|trans-Golgi network	protein binding	g.chr5:77771402A>T	AF038966	CCDS75264.1	5q14.1	2013-02-21			ENSG00000085365	ENSG00000085365		"""Secretory carrier membrane proteins"""	10563	protein-coding gene	gene with protein product		606911				9378760	Standard	NM_004866		Approved	SCAMP37	uc003kfl.3	O15126	OTTHUMG00000162479	ENST00000538629.1:c.928A>T	5.37:g.77771402A>T	ENSP00000475496:p.Asn310Tyr					SCAMP1_uc010jaa.2_RNA|SCAMP1_uc011ctc.1_RNA|SCAMP1_uc011ctd.1_RNA|SCAMP1_uc003kfm.2_RNA|SCAMP1_uc003kfn.2_Missense_Mutation_p.N48Y	p.N310Y	NM_004866	NP_004857	O15126	SCAM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.9e-46)|Epithelial(54;9.4e-43)|all cancers(79;1.12e-37)	11	1085	+		all_lung(232;0.000397)|Lung NSC(167;0.00105)|Ovarian(174;0.0105)|Prostate(461;0.214)	310			Cytoplasmic (Potential).		O43587|Q6FG23|Q96BX1|Q96QK5	Missense_Mutation	SNP	ENST00000538629.1	37	c.928A>T																																																																																					PASS	0.458	SCAMP1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_004866		4	21	4	21	---	---	---	---
GPR98	84059	broad.mit.edu	37	5	89968522	89968522	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr5:89968522C>A	ENST00000405460.2	+	22	5008	c.4912C>A	c.(4912-4914)Cct>Act	p.P1638T	GPR98_ENST00000450321.2_3'UTR	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1638	Calx-beta 11. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.P1638T(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TACATTCCTTCCTTGGCAGAG	0.378																																						uc003kju.2																			1	Substitution - Missense(1)		lung(1)	ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(4912-4914)CCT>ACT		G protein-coupled receptor 98 precursor							180.0	162.0	168.0					5																	89968522		1866	4108	5974	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89968522C>A	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.4912C>A	5.37:g.89968522C>A	ENSP00000384582:p.Pro1638Thr					GPR98_uc003kjt.2_5'UTR|GPR98_uc010jba.1_RNA	p.P1638T	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	22	5008	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	1638			Calx-beta 11.|Extracellular (Potential).		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.4912C>A	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.802969	0.90623	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.37058	1.22	6.07	6.07	0.98685	Na-Ca exchanger/integrin-beta4 (1);	0.000000	0.85682	D	0.000000	T	0.64260	0.2582	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.63501	-0.6623	10	0.66056	D	0.02	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	1638	Q8WXG9	GPR98_HUMAN	T	1638	ENSP00000384582:P1638T	ENSP00000296619:P1638T	P	+	1	0	GPR98	90004278	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.225000	0.78051	2.885000	0.99019	0.655000	0.94253	CCT		PASS	0.378	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		81	194	81	194	---	---	---	---
GPR98	84059	broad.mit.edu	37	5	89989705	89989705	+	Splice_Site	SNP	A	A	T			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr5:89989705A>T	ENST00000405460.2	+	33	7229		c.e33-1			NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98						detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.?(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TCCACATTTTAGCGGAGGGCA	0.398																																						uc003kju.2																			1	Unknown(1)		lung(1)	ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.e33-2		G protein-coupled receptor 98 precursor							34.0	33.0	33.0					5																	89989705		1874	4095	5969	SO:0001630	splice_region_variant	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89989705A>T	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.7134-1A>T	5.37:g.89989705A>T						GPR98_uc003kjt.2_Splice_Site_p.S84_splice|GPR98_uc003kjv.2_5'Flank	p.S2378_splice	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	33	7230	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)						O75171|Q8TF58|Q9H0X5|Q9UL61	Splice_Site	SNP	ENST00000405460.2	37	c.7134_splice	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.166843	0.78339	.	.	ENSG00000164199	ENST00000405460;ENST00000296619	.	.	.	6.08	6.08	0.98989	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6512	0.85203	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GPR98	90025461	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.108000	0.94275	2.333000	0.79357	0.482000	0.46254	.		PASS	0.398	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119	Intron	10	21	10	21	---	---	---	---
LNPEP	4012	broad.mit.edu	37	5	96358154	96358154	+	Missense_Mutation	SNP	T	T	C			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr5:96358154T>C	ENST00000231368.5	+	14	3219	c.2527T>C	c.(2527-2529)Ttt>Ctt	p.F843L	LNPEP_ENST00000395770.3_Missense_Mutation_p.F829L	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	843					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-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-cell signaling (GO:0007267)|female pregnancy (GO:0007565)|membrane organization (GO:0061024)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|early endosome lumen (GO:0031905)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.F843L(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		CATGAAACTGTTTGATGACTG	0.443																																						uc003kmv.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)	4						c.(2527-2529)TTT>CTT		leucyl/cystinyl aminopeptidase isoform 1							100.0	91.0	94.0					5																	96358154		2203	4300	6503	SO:0001583	missense	4012				cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr5:96358154T>C	D50810	CCDS4087.1, CCDS43346.1	5q15	2011-07-25			ENSG00000113441	ENSG00000113441	3.4.11.3		6656	protein-coding gene	gene with protein product	"""cystinyl aminopeptidase"", ""placental leucine aminopeptidase"""	151300				8550619	Standard	NM_175920		Approved	CAP, PLAP, P-LAP	uc003kmw.1	Q9UIQ6	OTTHUMG00000128719	ENST00000231368.5:c.2527T>C	5.37:g.96358154T>C	ENSP00000231368:p.Phe843Leu					LNPEP_uc003kmw.1_Missense_Mutation_p.F829L	p.F843L	NM_005575	NP_005566	Q9UIQ6	LCAP_HUMAN		COAD - Colon adenocarcinoma(37;0.072)	14	3041	+		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)	843			Extracellular (Potential).		O00769|Q15145|Q59H76|Q9TNQ2|Q9TNQ3|Q9UIQ7	Missense_Mutation	SNP	ENST00000231368.5	37	c.2527T>C	CCDS4087.1	.	.	.	.	.	.	.	.	.	.	T	27.0	4.793027	0.90453	.	.	ENSG00000113441	ENST00000231368;ENST00000395770	T;T	0.06608	3.28;3.28	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.21468	0.0517	M	0.66378	2.025	0.80722	D	1	D	0.56287	0.975	P	0.61722	0.893	T	0.00065	-1.2149	10	0.87932	D	0	.	14.8705	0.70453	0.0:0.0:0.0:1.0	.	843	Q9UIQ6	LCAP_HUMAN	L	843;829	ENSP00000231368:F843L;ENSP00000379117:F829L	ENSP00000231368:F843L	F	+	1	0	LNPEP	96383910	1.000000	0.71417	0.992000	0.48379	0.593000	0.36681	6.702000	0.74628	2.326000	0.78906	0.533000	0.62120	TTT		PASS	0.443	LNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250624.1	NM_005575		4	81	4	81	---	---	---	---
PCDHGA5	56110	broad.mit.edu	37	5	140744389	140744389	+	Silent	SNP	G	G	T			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr5:140744389G>T	ENST00000518069.1	+	1	492	c.492G>T	c.(490-492)gtG>gtT	p.V164V	PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	164	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V164V(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGTGGGTGTGAACTCTCTCC	0.517																																						uc003lju.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)	4						c.(490-492)GTG>GTT		protocadherin gamma subfamily A, 5 isoform 1							53.0	56.0	55.0					5																	140744389		2029	4182	6211	SO:0001819	synonymous_variant	56110				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140744389G>T	AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"""Cadherins / Protocadherins : Clustered"""	8703	other	protocadherin	"""cadherin ME3"""	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.492G>T	5.37:g.140744389G>T						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc011das.1_Silent_p.V164V	p.V164V	NM_018918	NP_061741	Q9Y5G8	PCDG5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	492	+			164			Extracellular (Potential).|Cadherin 2.		Q2M3F5|Q9Y5D2	Silent	SNP	ENST00000518069.1	37	c.492G>T	CCDS54925.1																																																																																				PASS	0.517	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374742.1	NM_018918		21	67	21	67	---	---	---	---
PCDHGB3	56102	broad.mit.edu	37	5	140751506	140751506	+	Silent	SNP	C	C	T			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr5:140751506C>T	ENST00000576222.1	+	1	1676	c.1545C>T	c.(1543-1545)ttC>ttT	p.F515F	PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_5'Flank|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	515	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGTGGTGTTCGCGCAGCGAG	0.672																																						uc003ljw.1																			0					0						c.(1543-1545)TTC>TTT		protocadherin gamma subfamily B, 3 isoform 1							45.0	50.0	48.0					5																	140751506		2107	4237	6344	SO:0001819	synonymous_variant	56102				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140751506C>T	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.1545C>T	5.37:g.140751506C>T						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGA6_uc003ljy.1_5'Flank|PCDHGB3_uc011dat.1_Silent_p.F515F|PCDHGA6_uc011dau.1_5'Flank	p.F515F	NM_018924	NP_061747	Q9Y5G1	PCDGF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1545	+			515			Extracellular (Potential).|Cadherin 5.		A7E229|Q9Y5C7	Silent	SNP	ENST00000576222.1	37	c.1545C>T	CCDS58980.1																																																																																				PASS	0.672	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924		37	100	37	100	---	---	---	---
PCDHGC4	56098	broad.mit.edu	37	5	140865131	140865131	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr5:140865131C>T	ENST00000306593.1	+	1	391	c.391C>T	c.(391-393)Ccc>Tcc	p.P131S	PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGC3_ENST00000308177.3_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1	Q9Y5F7	PCDGL_HUMAN	protocadherin gamma subfamily C, 4	131	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P131S(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGATCACGCCCCCCGTTTTCC	0.572																																						uc003lky.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(391-393)CCC>TCC		protocadherin gamma subfamily C, 4 isoform 1							74.0	76.0	76.0					5																	140865131		2203	4300	6503	SO:0001583	missense	56098				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140865131C>T	AF152525	CCDS4262.1, CCDS75349.1	5q31	2010-01-26			ENSG00000242419	ENSG00000242419		"""Cadherins / Protocadherins : Clustered"""	8717	other	protocadherin		606305				10380929	Standard	NM_018928		Approved	PCDH-GAMMA-C4		Q9Y5F7	OTTHUMG00000129625	ENST00000306593.1:c.391C>T	5.37:g.140865131C>T	ENSP00000306918:p.Pro131Ser					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lkv.1_Intron|PCDHGC3_uc003lkw.1_Intron|PCDHGC4_uc011dbb.1_Missense_Mutation_p.P131S	p.P131S	NM_018928	NP_061751	Q9Y5F7	PCDGL_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	391	+			131			Cadherin 1.|Extracellular (Potential).		Q495T2|Q9Y5C3	Missense_Mutation	SNP	ENST00000306593.1	37	c.391C>T	CCDS4262.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.833335	0.91036	.	.	ENSG00000242419	ENST00000306593	T	0.72282	-0.64	5.0	5.0	0.66597	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	D	0.91064	0.7188	H	0.98738	4.315	0.50467	D	0.999875	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94628	0.7819	9	0.87932	D	0	.	18.4946	0.90860	0.0:1.0:0.0:0.0	.	131;131	Q9Y5F7-2;Q9Y5F7	.;PCDGL_HUMAN	S	131	ENSP00000306918:P131S	ENSP00000306918:P131S	P	+	1	0	PCDHGC4	140845315	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.872000	0.69636	2.596000	0.87737	0.561000	0.74099	CCC		PASS	0.572	PCDHGC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251820.1	NM_018928		44	217	44	217	---	---	---	---
RELL2	285613	broad.mit.edu	37	5	141019991	141019991	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr5:141019991C>A	ENST00000297164.3	+	6	2092	c.892C>A	c.(892-894)Cag>Aag	p.Q298K	RELL2_ENST00000444782.1_Missense_Mutation_p.Q298K|RELL2_ENST00000521367.1_Intron|RELL2_ENST00000518025.1_3'UTR|FCHSD1_ENST00000523856.1_5'UTR|FCHSD1_ENST00000435817.2_3'UTR|RELL2_ENST00000518856.1_Missense_Mutation_p.Q232K	NM_173828.4	NP_776189.3	Q8NC24	RELL2_HUMAN	RELT-like 2	298					positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.Q298K(1)		large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCTCTACCACAGGGAGCAGG	0.517																																						uc003lli.2																			1	Substitution - Missense(1)		lung(1)		0						c.(892-894)CAG>AAG		RELT-like 2							163.0	143.0	150.0					5																	141019991		2203	4300	6503	SO:0001583	missense	285613					integral to membrane|plasma membrane		g.chr5:141019991C>A	AK054889	CCDS4265.1	5q31.3	2011-10-11	2007-06-15	2007-06-15	ENSG00000164620	ENSG00000164620			26902	protein-coding gene	gene with protein product		611213	"""chromosome 5 open reading frame 16"""	C5orf16		12975309, 16389068	Standard	NM_173828		Approved	FLJ90583	uc003lli.3	Q8NC24	OTTHUMG00000129612	ENST00000297164.3:c.892C>A	5.37:g.141019991C>A	ENSP00000297164:p.Gln298Lys					RELL2_uc003llh.2_Missense_Mutation_p.Q298K|RELL2_uc003llg.2_Missense_Mutation_p.Q232K|RELL2_uc010jgf.2_Intron|FCHSD1_uc010jgg.2_3'UTR|FCHSD1_uc003llj.2_RNA|FCHSD1_uc003llk.2_3'UTR	p.Q298K	NM_001130029	NP_001123501	Q8NC24	RELL2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		7	1740	+			298					D3DQE2|Q6P4E7|Q6UXY2	Missense_Mutation	SNP	ENST00000297164.3	37	c.892C>A	CCDS4265.1	.	.	.	.	.	.	.	.	.	.	C	0.746	-0.774555	0.02951	.	.	ENSG00000164620	ENST00000444782;ENST00000297164;ENST00000518856	T;T;T	0.13196	2.62;2.62;2.61	4.91	4.01	0.46588	.	1.685080	0.03334	N	0.193769	T	0.08891	0.0220	N	0.08118	0	0.80722	D	1	B	0.10296	0.003	B	0.06405	0.002	T	0.19192	-1.0313	10	0.16896	T	0.51	0.8004	10.3031	0.43663	0.0:0.7831:0.2169:0.0	.	298	Q8NC24	RELL2_HUMAN	K	298;298;232	ENSP00000409443:Q298K;ENSP00000297164:Q298K;ENSP00000427992:Q232K	ENSP00000297164:Q298K	Q	+	1	0	RELL2	141000175	0.038000	0.19896	0.967000	0.41034	0.871000	0.50021	1.043000	0.30316	2.549000	0.85964	0.655000	0.94253	CAG		PASS	0.517	RELL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251807.2	NM_173828		39	180	39	180	---	---	---	---
FAM71B	153745	broad.mit.edu	37	5	156592781	156592781	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr5:156592781G>C	ENST00000302938.4	-	1	494	c.399C>G	c.(397-399)caC>caG	p.H133Q		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	133						nucleus (GO:0005634)		p.H133Q(1)		NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCTCATGATCGTGGATGGAGA	0.527																																						uc003lwn.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)|skin(1)	6						c.(397-399)CAC>CAG		family with sequence similarity 71, member B							84.0	88.0	87.0					5																	156592781		2203	4300	6503	SO:0001583	missense	153745					nucleus		g.chr5:156592781G>C		CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.399C>G	5.37:g.156592781G>C	ENSP00000305596:p.His133Gln						p.H133Q	NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		1	499	-	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	133					Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP	ENST00000302938.4	37	c.399C>G	CCDS4335.1	.	.	.	.	.	.	.	.	.	.	G	9.906	1.208320	0.22205	.	.	ENSG00000170613	ENST00000302938	T	0.24151	1.87	4.56	-4.47	0.03525	.	0.240423	0.35585	N	0.003111	T	0.39809	0.1092	M	0.72118	2.19	0.21553	N	0.999649	D	0.62365	0.991	D	0.64042	0.921	T	0.32079	-0.9920	10	0.48119	T	0.1	-16.0053	12.2217	0.54437	0.7355:0.0:0.2645:0.0	.	133	Q8TC56	FA71B_HUMAN	Q	133	ENSP00000305596:H133Q	ENSP00000305596:H133Q	H	-	3	2	FAM71B	156525359	0.017000	0.18338	0.044000	0.18714	0.207000	0.24258	-0.605000	0.05661	-0.946000	0.03677	-0.136000	0.14681	CAC		PASS	0.527	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899		26	100	26	100	---	---	---	---
EBF1	1879	broad.mit.edu	37	5	158250303	158250303	+	Missense_Mutation	SNP	T	T	C			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr5:158250303T>C	ENST00000313708.6	-	8	941	c.659A>G	c.(658-660)aAt>aGt	p.N220S	EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000380654.4_Missense_Mutation_p.N197S|EBF1_ENST00000517373.1_Missense_Mutation_p.N220S	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	220					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.N220S(1)	HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCCATCCACATTGACTGTCGT	0.433			T	HMGA2	lipoma																																	uc010jip.2				Dom	yes		5	5q34	1879	T	early B-cell factor 1			M	HMGA2		lipoma	HMGA2/EBF1(2)	1	Substitution - Missense(1)		lung(1)	soft_tissue(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5						c.(658-660)AAT>AGT		early B-cell factor							74.0	60.0	65.0					5																	158250303		2203	4300	6503	SO:0001583	missense	1879				multicellular organismal development	nucleus	DNA binding|metal ion binding	g.chr5:158250303T>C	AF208502	CCDS4343.1	5q34	2008-02-05	2006-09-26	2006-09-26	ENSG00000164330	ENSG00000164330			3126	protein-coding gene	gene with protein product		164343	"""early B-cell factor"""	EBF		8012110	Standard	NM_024007		Approved	OLF1	uc010jip.3	Q9UH73	OTTHUMG00000130304	ENST00000313708.6:c.659A>G	5.37:g.158250303T>C	ENSP00000322898:p.Asn220Ser					EBF1_uc011ddw.1_Missense_Mutation_p.N87S|EBF1_uc011ddx.1_Missense_Mutation_p.N220S|EBF1_uc003lxl.3_Missense_Mutation_p.N197S	p.N220S	NM_024007	NP_076870	Q9UH73	COE1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		8	961	-	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	220					Q8IW11	Missense_Mutation	SNP	ENST00000313708.6	37	c.659A>G	CCDS4343.1	.	.	.	.	.	.	.	.	.	.	T	2.364	-0.345856	0.05208	.	.	ENSG00000164330	ENST00000318060;ENST00000313708;ENST00000380654;ENST00000517373	T;T;T	0.41400	1.03;1.02;1.0	5.52	5.52	0.82312	.	0.049671	0.85682	D	0.000000	T	0.14874	0.0359	N	0.00642	-1.3	0.40623	D	0.981785	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.0;0.0;0.001	T	0.22661	-1.0210	10	0.08599	T	0.76	-7.6939	15.6488	0.77076	0.0:0.0:0.0:1.0	.	220;206;220;197	A8K0Z7;B4E2U8;Q9UH73;Q9UH73-2	.;.;COE1_HUMAN;.	S	220;220;197;220	ENSP00000322898:N220S;ENSP00000370029:N197S;ENSP00000428020:N220S	ENSP00000322898:N220S	N	-	2	0	EBF1	158182881	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.936000	0.63506	2.069000	0.61940	0.533000	0.62120	AAT		PASS	0.433	EBF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252649.1	NM_024007		15	61	15	61	---	---	---	---
PFN3	345456	broad.mit.edu	37	5	176827199	176827199	+	Nonsense_Mutation	SNP	C	C	A			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr5:176827199C>A	ENST00000358571.2	-	1	438	c.379G>T	c.(379-381)Gaa>Taa	p.E127*	F12_ENST00000514943.1_5'Flank	NM_001029886.2	NP_001025057.1	P60673	PROF3_HUMAN	profilin 3	127					actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	lipid binding (GO:0008289)	p.E127*(1)		lung(1)	1	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	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)			CGTATGAGTTCGTGCACCGTC	0.711																																						uc003mgl.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(379-381)GAA>TAA		profilin 3							19.0	21.0	20.0					5																	176827199		2095	4225	6320	SO:0001587	stop_gained	345456				actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin binding	g.chr5:176827199C>A	AC090063	CCDS34301.1	5q35.2	2008-08-26			ENSG00000196570	ENSG00000196570			18627	protein-coding gene	gene with protein product		612812				11867228	Standard	NM_001029886		Approved		uc003mgl.2	P60673	OTTHUMG00000163408	ENST00000358571.2:c.379G>T	5.37:g.176827199C>A	ENSP00000351379:p.Glu127*						p.E127*	NM_001029886	NP_001025057	P60673	PROF3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		1	439	-	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	127					A2RUL3	Nonsense_Mutation	SNP	ENST00000358571.2	37	c.379G>T	CCDS34301.1	.	.	.	.	.	.	.	.	.	.	C	12.72	2.023181	0.35701	.	.	ENSG00000196570	ENST00000358571	.	.	.	4.76	1.67	0.24075	.	0.515705	0.18977	N	0.125997	.	.	.	.	.	.	0.36829	D	0.886803	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	5.9747	0.19371	0.0:0.4757:0.4129:0.1115	.	.	.	.	X	127	.	ENSP00000351379:E127X	E	-	1	0	PFN3	176759805	0.214000	0.23563	0.978000	0.43139	0.179000	0.23085	0.760000	0.26475	0.968000	0.38212	0.485000	0.47835	GAA		PASS	0.711	PFN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373234.1	NM_001029886		5	48	5	48	---	---	---	---
TBC1D9B	23061	broad.mit.edu	37	5	179297373	179297373	+	Silent	SNP	G	G	A			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr5:179297373G>A	ENST00000356834.3	-	16	2644	c.2607C>T	c.(2605-2607)gcC>gcT	p.A869A	TBC1D9B_ENST00000519746.1_Silent_p.A45A|TBC1D9B_ENST00000355235.3_Silent_p.A869A|TBC1D9B_ENST00000444477.2_Silent_p.A27A	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	869						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)	p.A869A(2)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTGTCAGGCTGGCAAAGAGTT	0.632																																						uc003mlh.2																			2	Substitution - coding silent(2)		lung(2)	breast(1)|skin(1)	2						c.(2605-2607)GCC>GCT		TBC1 domain family, member 9B (with GRAM domain)							96.0	95.0	96.0					5																	179297373		2203	4300	6503	SO:0001819	synonymous_variant	23061					integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity	g.chr5:179297373G>A	AB014576	CCDS4450.1, CCDS43408.1	5q35.3	2013-01-10			ENSG00000197226	ENSG00000197226		"""EF-hand domain containing"""	29097	protein-coding gene	gene with protein product						9734811	Standard	NM_198868		Approved	KIAA0676	uc003mlh.3	Q66K14	OTTHUMG00000130911	ENST00000356834.3:c.2607C>T	5.37:g.179297373G>A						TBC1D9B_uc003mli.2_Silent_p.A869A|TBC1D9B_uc003mlj.2_Silent_p.A869A|TBC1D9B_uc003mlg.2_Silent_p.A45A|TBC1D9B_uc011dgv.1_Silent_p.A45A|TBC1D9B_uc011dgw.1_Silent_p.A45A|TBC1D9B_uc003mlk.1_Silent_p.A27A	p.A869A	NM_198868	NP_942568	Q66K14	TBC9B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		16	2644	-	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	869					D3DWQ5|D3DWQ6|O75163|Q53EY0|Q6MZI2|Q96H49	Silent	SNP	ENST00000356834.3	37	c.2607C>T	CCDS43408.1																																																																																				PASS	0.632	TBC1D9B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253501.3	NM_015043		71	234	71	234	---	---	---	---
CDKAL1	54901	broad.mit.edu	37	6	20955785	20955785	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr6:20955785C>T	ENST00000378610.1	+	8	888	c.878C>T	c.(877-879)aCa>aTa	p.T293I	CDKAL1_ENST00000274695.4_Missense_Mutation_p.T293I|CDKAL1_ENST00000378624.4_Missense_Mutation_p.T223I			Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein 1-like 1	293					maintenance of translational fidelity (GO:1990145)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|N6-threonylcarbomyladenosine methylthiotransferase activity (GO:0035598)	p.T293I(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			CTTGGCATGACAAATCCGCCC	0.498																																						uc003ndc.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(877-879)ACA>ATA		CDK5 regulatory subunit associated protein							123.0	118.0	120.0					6																	20955785		2203	4300	6503	SO:0001583	missense	54901				RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity	g.chr6:20955785C>T	AK000349	CCDS4546.1	6p22.2	2008-02-05			ENSG00000145996	ENSG00000145996			21050	protein-coding gene	gene with protein product		611259					Standard	NM_017774		Approved	FLJ20342	uc003ndd.2	Q5VV42	OTTHUMG00000014340	ENST00000378610.1:c.878C>T	6.37:g.20955785C>T	ENSP00000367873:p.Thr293Ile					CDKAL1_uc003ndd.1_Missense_Mutation_p.T293I|CDKAL1_uc003nde.1_Missense_Mutation_p.T223I	p.T293I	NM_017774	NP_060244	Q5VV42	CDKAL_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)		10	1052	+	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		293					A8K6S0|Q6P385|Q6ZR27|Q9NXB3	Missense_Mutation	SNP	ENST00000378610.1	37	c.878C>T	CCDS4546.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.674754	0.88445	.	.	ENSG00000145996	ENST00000274695;ENST00000378624;ENST00000378610	T;T;T	0.23754	1.89;1.89;1.89	5.41	5.41	0.78517	Elongator protein 3/MiaB/NifB (1);Radical SAM, alpha/beta horseshoe (1);Radical SAM (1);	0.000000	0.85682	D	0.000000	T	0.30386	0.0763	N	0.20610	0.595	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.994	T	0.29397	-1.0013	10	0.87932	D	0	.	19.216	0.93778	0.0:1.0:0.0:0.0	.	223;293	Q5VV42-2;Q5VV42	.;CDKAL_HUMAN	I	293;223;293	ENSP00000274695:T293I;ENSP00000367889:T223I;ENSP00000367873:T293I	ENSP00000274695:T293I	T	+	2	0	CDKAL1	21063764	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.270000	0.78493	2.529000	0.85273	0.650000	0.86243	ACA		PASS	0.498	CDKAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039986.1	NM_017774		6	280	6	280	---	---	---	---
DCDC2	51473	broad.mit.edu	37	6	24357739	24357739	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr6:24357739G>C	ENST00000378454.3	-	1	541	c.240C>G	c.(238-240)atC>atG	p.I80M	KAAG1_ENST00000274766.1_5'UTR	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	80	Doublecortin 1. {ECO:0000255|PROSITE- ProRule:PRU00072}.				cellular defense response (GO:0006968)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|neuron migration (GO:0001764)|visual learning (GO:0008542)			p.I80M(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				CCCCGCTCTGGATCTGGTCTA	0.612																																						uc003ndx.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(238-240)ATC>ATG		doublecortin domain containing 2							44.0	42.0	43.0					6																	24357739		2203	4300	6503	SO:0001583	missense	51473				cellular defense response|intracellular signal transduction|neuron migration			g.chr6:24357739G>C	AB032980	CCDS4550.1	6p22.1	2008-02-05			ENSG00000146038	ENSG00000146038			18141	protein-coding gene	gene with protein product		605755				10601354, 10574461	Standard	NM_001195610		Approved	RU2, KIAA1154, DCDC2A	uc003ndx.3	Q9UHG0	OTTHUMG00000016275	ENST00000378454.3:c.240C>G	6.37:g.24357739G>C	ENSP00000367715:p.Ile80Met					DCDC2_uc003ndy.2_Missense_Mutation_p.I80M|KAAG1_uc003ndz.1_5'UTR	p.I80M	NM_016356	NP_057440	Q9UHG0	DCDC2_HUMAN			1	542	-		Ovarian(999;0.101)	80			Doublecortin 1.		Q5VTR8|Q5VTR9|Q86W35|Q9UFD1|Q9UHG1|Q9ULR6	Missense_Mutation	SNP	ENST00000378454.3	37	c.240C>G	CCDS4550.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.81|13.81	2.347338|2.347338	0.41599|0.41599	.|.	.|.	ENSG00000146038|ENSG00000146038	ENST00000378454;ENST00000451359|ENST00000436313	D|.	0.93076|.	-3.16|.	5.57|5.57	-1.56|-1.56	0.08532|0.08532	Doublecortin domain (5);|.	0.291638|.	0.33772|.	N|.	0.004566|.	T|T	0.40694|0.40694	0.1127|0.1127	M|M	0.68317|0.68317	2.08|2.08	0.80722|0.80722	D|D	1|1	P|.	0.47841|.	0.901|.	P|.	0.46585|.	0.521|.	T|T	0.47032|0.47032	-0.9148|-0.9148	10|5	0.87932|.	D|.	0|.	-10.8103|-10.8103	2.8048|2.8048	0.05424|0.05424	0.4008:0.1776:0.3253:0.0963|0.4008:0.1776:0.3253:0.0963	.|.	80|.	Q9UHG0|.	DCDC2_HUMAN|.	M|C	80|48	ENSP00000367715:I80M|.	ENSP00000367715:I80M|.	I|S	-|-	3|2	3|0	DCDC2|DCDC2	24465718|24465718	0.987000|0.987000	0.35691|0.35691	0.985000|0.985000	0.45067|0.45067	0.932000|0.932000	0.56968|0.56968	0.266000|0.266000	0.18534|0.18534	-0.205000|-0.205000	0.10219|0.10219	-0.218000|-0.218000	0.12543|0.12543	ATC|TCC		PASS	0.612	DCDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043604.1	NM_016356		5	183	5	183	---	---	---	---
OR2B6	26212	broad.mit.edu	37	6	27925954	27925954	+	Silent	SNP	G	G	A			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr6:27925954G>A	ENST00000244623.1	+	1	936	c.936G>A	c.(934-936)aaG>aaA	p.K312K		NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B, member 6	312						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K312K(1)		endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCTTAATCAAGAAATAAGAAA	0.343																																						uc011dkx.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(934-936)AAG>AAA		olfactory receptor, family 2, subfamily B,							47.0	47.0	47.0					6																	27925954		2203	4299	6502	SO:0001819	synonymous_variant	26212				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:27925954G>A	U86275	CCDS4642.1	6p22.1	2012-08-09			ENSG00000124657	ENSG00000124657		"""GPCR / Class A : Olfactory receptors"""	8241	protein-coding gene	gene with protein product				OR2B6P, OR2B1, OR2B1P, OR2B5		9500546	Standard	NM_012367		Approved	OR6-31, dJ408B20.2, OR5-40, OR5-41	uc011dkx.2	P58173	OTTHUMG00000014497	ENST00000244623.1:c.936G>A	6.37:g.27925954G>A							p.K312K	NM_012367	NP_036499	P58173	OR2B6_HUMAN			1	936	+			312			Cytoplasmic (Potential).		O43883|Q6IF89|Q9H5B0	Silent	SNP	ENST00000244623.1	37	c.936G>A	CCDS4642.1																																																																																				PASS	0.343	OR2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040165.1			20	123	20	123	---	---	---	---
MUC21	394263	broad.mit.edu	37	6	30955025	30955025	+	Missense_Mutation	SNP	G	G	A	rs55763085		TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr6:30955025G>A	ENST00000376296.3	+	2	1314	c.1073G>A	c.(1072-1074)aGc>aAc	p.S358N	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	358	28 X 15 AA approximate tandem repeats.|Ser-rich.				cellular protein metabolic process (GO:0044267)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S358N(1)		NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						AGTGGGGCCAGCACAGCCACC	0.642																																						uc003nsh.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1072-1074)AGC>AAC		mucin 21 precursor							135.0	134.0	135.0					6																	30955025		2202	4298	6500	SO:0001583	missense	394263					integral to membrane|plasma membrane		g.chr6:30955025G>A	AK056612	CCDS34388.1	6p21.33	2008-05-14	2008-05-14	2008-05-14	ENSG00000204544	ENSG00000204544		"""Mucins"""	21661	protein-coding gene	gene with protein product	"""epiglycanin"""		"""chromosome 6 open reading frame 205"""	C6orf205		17977904	Standard	NM_001010909		Approved	bCX31G15.2	uc003nsh.2	Q5SSG8	OTTHUMG00000031216	ENST00000376296.3:c.1073G>A	6.37:g.30955025G>A	ENSP00000365473:p.Ser358Asn					MUC21_uc003nsi.1_RNA	p.S358N	NM_001010909	NP_001010909	Q5SSG8	MUC21_HUMAN			2	1324	+			358			Ser-rich.|28 X 15 AA approximate tandem repeats.|22.|Extracellular (Potential).		B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Missense_Mutation	SNP	ENST00000376296.3	37	c.1073G>A	CCDS34388.1	.	.	.	.	.	.	.	.	.	.	g	11.44	1.638585	0.29157	.	.	ENSG00000204544	ENST00000450707;ENST00000376296	T	0.02863	4.13	4.44	1.37	0.22104	.	.	.	.	.	T	0.00724	0.0024	N	0.17082	0.46	0.09310	N	1	B	0.27498	0.18	B	0.29176	0.099	T	0.47509	-0.9112	9	0.36615	T	0.2	-6.2264	7.3385	0.26623	0.0985:0.4534:0.448:0.0	rs55763085	358	Q5SSG8	MUC21_HUMAN	N	208;358	ENSP00000365473:S358N	ENSP00000365473:S358N	S	+	2	0	MUC21	31063004	0.000000	0.05858	0.067000	0.19924	0.130000	0.20726	-0.612000	0.05616	0.590000	0.29694	-0.192000	0.12808	AGC		PASS	0.642	MUC21-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000128579.3	NM_001010909		5	443	5	443	---	---	---	---
UHRF1BP1	54887	broad.mit.edu	37	6	34789719	34789719	+	Missense_Mutation	SNP	A	A	T			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr6:34789719A>T	ENST00000192788.5	+	3	404	c.233A>T	c.(232-234)cAc>cTc	p.H78L	Y_RNA_ENST00000383990.1_RNA|UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.H78L	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	78							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)	p.H78L(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						TTGAAGACACACCCTATTTGC	0.463																																						uc003oju.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(232-234)CAC>CTC		ICBP90 binding protein 1							131.0	121.0	124.0					6																	34789719		1949	4163	6112	SO:0001583	missense	54887							g.chr6:34789719A>T	AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 107"""	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.233A>T	6.37:g.34789719A>T	ENSP00000192788:p.His78Leu					UHRF1BP1_uc010jvm.1_RNA|UHRF1BP1_uc010jvn.2_RNA	p.H78L	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN			3	467	+			78					Q9NXE0	Missense_Mutation	SNP	ENST00000192788.5	37	c.233A>T	CCDS43455.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.298743	0.81025	.	.	ENSG00000065060	ENST00000192788;ENST00000452449	D;D	0.82167	-1.58;-1.58	5.75	5.75	0.90469	.	0.109437	0.64402	D	0.000005	D	0.87877	0.6288	M	0.73598	2.24	0.40073	D	0.976035	D	0.63046	0.992	D	0.64687	0.928	D	0.89266	0.3601	10	0.59425	D	0.04	-19.2093	14.6334	0.68673	1.0:0.0:0.0:0.0	.	78	Q6BDS2	URFB1_HUMAN	L	78	ENSP00000192788:H78L;ENSP00000400628:H78L	ENSP00000192788:H78L	H	+	2	0	UHRF1BP1	34897697	1.000000	0.71417	0.930000	0.37139	0.973000	0.67179	5.789000	0.69029	2.196000	0.70406	0.374000	0.22700	CAC		PASS	0.463	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	NM_017754		50	289	50	289	---	---	---	---
DEF6	50619	broad.mit.edu	37	6	35277562	35277562	+	Missense_Mutation	SNP	A	A	G			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr6:35277562A>G	ENST00000316637.5	+	2	217	c.212A>G	c.(211-213)tAc>tGc	p.Y71C	DEF6_ENST00000542066.1_5'UTR	NM_022047.3	NP_071330.3	Q9H4E7	DEFI6_HUMAN	differentially expressed in FDCP 6 homolog (mouse)	71						cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.Y71C(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						TACATGCCCTACCTCAACAAG	0.582																																						uc003okk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(211-213)TAC>TGC		differentially expressed in FDCP 6 homolog							143.0	107.0	119.0					6																	35277562		2203	4300	6503	SO:0001583	missense	50619					cytoplasm|nucleus|plasma membrane		g.chr6:35277562A>G	AJ276095	CCDS4802.1	6p21.33-p21.1	2013-01-10	2001-11-28		ENSG00000023892	ENSG00000023892		"""Pleckstrin homology (PH) domain containing"""	2760	protein-coding gene	gene with protein product	"""SWAP-70-like adaptor protein of T cells"""	610094	"""differentially expressed in FDCP (mouse homolog) 6"""			19251698	Standard	NM_022047		Approved	IBP, SLAT, SWAP70L	uc003okk.3	Q9H4E7	OTTHUMG00000014563	ENST00000316637.5:c.212A>G	6.37:g.35277562A>G	ENSP00000319831:p.Tyr71Cys					DEF6_uc010jvs.2_Missense_Mutation_p.Y71C|DEF6_uc010jvt.2_5'UTR	p.Y71C	NM_022047	NP_071330	Q9H4E7	DEFI6_HUMAN			2	251	+			71					Q86VF4	Missense_Mutation	SNP	ENST00000316637.5	37	c.212A>G	CCDS4802.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.441689	0.83993	.	.	ENSG00000023892	ENST00000394658;ENST00000316637	D	0.85955	-2.05	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	D	0.91382	0.7281	M	0.83953	2.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.92943	0.6374	10	0.87932	D	0	-22.958	15.1136	0.72380	1.0:0.0:0.0:0.0	.	71;71	B2RBP7;Q9H4E7	.;DEFI6_HUMAN	C	71	ENSP00000319831:Y71C	ENSP00000319831:Y71C	Y	+	2	0	DEF6	35385540	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.189000	0.94928	1.980000	0.57719	0.533000	0.62120	TAC		PASS	0.582	DEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040276.1	NM_022047		44	94	44	94	---	---	---	---
PPARD	5467	broad.mit.edu	37	6	35393786	35393786	+	Missense_Mutation	SNP	G	G	A	rs200904269		TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr6:35393786G>A	ENST00000311565.4	+	9	1605	c.1256G>A	c.(1255-1257)cGg>cAg	p.R419Q	PPARD_ENST00000360694.3_Missense_Mutation_p.R419Q|PPARD_ENST00000448077.2_Missense_Mutation_p.R380Q|PPARD_ENST00000540939.1_Missense_Mutation_p.R316Q|PPARD_ENST00000418635.2_Missense_Mutation_p.R321Q	NM_001171818.1	NP_001165289.1	Q03181	PPARD_HUMAN	peroxisome proliferator-activated receptor delta	419	Ligand-binding.				adipose tissue development (GO:0060612)|anagen (GO:0042640)|apoptotic signaling pathway (GO:0097190)|axon ensheathment (GO:0008366)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cell-substrate adhesion (GO:0031589)|cellular response to hypoxia (GO:0071456)|cholesterol metabolic process (GO:0008203)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|fatty acid beta-oxidation (GO:0006635)|fatty acid catabolic process (GO:0009062)|fatty acid transport (GO:0015908)|gene expression (GO:0010467)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|heart development (GO:0007507)|intracellular receptor signaling pathway (GO:0030522)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)|lipid metabolic process (GO:0006629)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of inflammatory response (GO:0050728)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid biosynthetic process (GO:0008654)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epidermis development (GO:0045684)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasodilation (GO:0045909)|proteoglycan metabolic process (GO:0006029)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to activity (GO:0014823)|response to glucose (GO:0009749)|response to vitamin A (GO:0033189)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vitamin A metabolic process (GO:0006776)|wound healing (GO:0042060)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|linoleic acid binding (GO:0070539)|lipid binding (GO:0008289)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.R419Q(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23					Bezafibrate(DB01393)|Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)	ATGATGCAGCGGATCAAGAAG	0.607																																						uc003okm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1255-1257)CGG>CAG		peroxisome proliferative activated receptor,	Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)						104.0	88.0	94.0					6																	35393786		2203	4300	6503	SO:0001583	missense	5467				apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr6:35393786G>A	L07592	CCDS4803.1, CCDS4804.1, CCDS54994.1, CCDS54995.1	6p21.2	2013-01-16	2006-10-17		ENSG00000112033	ENSG00000112033		"""Nuclear hormone receptors"""	9235	protein-coding gene	gene with protein product		600409	"""peroxisome proliferative activated receptor, delta"""			1333051	Standard	NM_177435		Approved	NUC1, NUCII, FAAR, NR1C2	uc003okm.3	Q03181	OTTHUMG00000014567	ENST00000311565.4:c.1256G>A	6.37:g.35393786G>A	ENSP00000310928:p.Arg419Gln					PPARD_uc003okn.2_Missense_Mutation_p.R419Q|PPARD_uc011dtb.1_Missense_Mutation_p.R380Q|PPARD_uc011dtc.1_Missense_Mutation_p.R321Q	p.R419Q	NM_006238	NP_006229	Q03181	PPARD_HUMAN			8	1565	+			419			Ligand-binding.		A8K6J6|B4E3V3|B6ZGS1|B7Z3W1|E9PE18|Q5D1P0|Q7Z5K0|Q9BUD4	Missense_Mutation	SNP	ENST00000311565.4	37	c.1256G>A	CCDS4803.1	.	.	.	.	.	.	.	.	.	.	G	11.87	1.766885	0.31320	.	.	ENSG00000112033	ENST00000448077;ENST00000360694;ENST00000418635;ENST00000311565;ENST00000540939	T;T;T;T;T	0.69926	-0.44;-0.44;-0.44;-0.44;-0.44	5.05	4.05	0.47172	Nuclear hormone receptor, ligand-binding (2);	0.468029	0.23046	N	0.052545	T	0.17704	0.0425	N	0.14661	0.345	0.24640	N	0.993577	P;P;P	0.49783	0.858;0.718;0.928	B;B;B	0.32980	0.156;0.101;0.101	T	0.06162	-1.0842	10	0.11794	T	0.64	.	5.9726	0.19361	0.2365:0.0:0.7635:0.0	.	321;380;419	E9PE18;B7Z3W1;Q03181	.;.;PPARD_HUMAN	Q	380;419;321;419;316	ENSP00000414372:R380Q;ENSP00000353916:R419Q;ENSP00000413314:R321Q;ENSP00000310928:R419Q;ENSP00000443759:R316Q	ENSP00000310928:R419Q	R	+	2	0	PPARD	35501764	1.000000	0.71417	0.999000	0.59377	0.919000	0.55068	3.490000	0.53245	2.340000	0.79590	0.561000	0.74099	CGG		PASS	0.607	PPARD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040288.1	NM_006238		13	170	13	170	---	---	---	---
SAYSD1	55776	broad.mit.edu	37	6	39073367	39073367	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr6:39073367G>C	ENST00000229903.4	-	2	492	c.393C>G	c.(391-393)ttC>ttG	p.F131L	SAYSD1_ENST00000373249.1_Missense_Mutation_p.F64L	NM_018322.1	NP_060792.1	Q9NPB0	SMDC1_HUMAN	SAYSVFN motif domain containing 1	131						cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)		p.F131L(1)									ACATCCAATAGAACAAGGACA	0.502																																						uc003ook.1																			1	Substitution - Missense(1)		lung(1)		0						c.(391-393)TTC>TTG		hypothetical protein LOC55776							183.0	178.0	180.0					6																	39073367		2203	4300	6503	SO:0001583	missense	55776					integral to membrane		g.chr6:39073367G>C	BC022007	CCDS4840.1	6p21.1	2011-12-13	2011-12-13	2011-12-13	ENSG00000112167	ENSG00000112167			21025	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 64"""	C6orf64			Standard	XM_005249222		Approved	FLJ11101	uc003ook.1	Q9NPB0	OTTHUMG00000014641	ENST00000229903.4:c.393C>G	6.37:g.39073367G>C	ENSP00000229903:p.Phe131Leu					C6orf64_uc011dty.1_RNA|C6orf64_uc003oom.1_RNA	p.F131L	NM_018322	NP_060792	Q9NPB0	CF064_HUMAN			2	393	-			131					Q9H0D8	Missense_Mutation	SNP	ENST00000229903.4	37	c.393C>G	CCDS4840.1	.	.	.	.	.	.	.	.	.	.	G	14.45	2.538736	0.45176	.	.	ENSG00000112167	ENST00000373249;ENST00000229903	.	.	.	6.08	4.28	0.50868	Uncharacterised domain SAYSvFN (1);	0.047145	0.85682	D	0.000000	T	0.38480	0.1042	L	0.43152	1.355	0.51012	D	0.999909	D	0.52996	0.957	P	0.49752	0.621	T	0.12528	-1.0544	9	0.36615	T	0.2	-18.9043	9.1431	0.36917	0.2362:0.0:0.7638:0.0	.	131	Q9NPB0	CF064_HUMAN	L	64;131	.	ENSP00000229903:F131L	F	-	3	2	C6orf64	39181345	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.452000	0.35156	2.894000	0.99253	0.655000	0.94253	TTC		PASS	0.502	SAYSD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040448.1	NM_018322		78	525	78	525	---	---	---	---
MEP1A	4224	broad.mit.edu	37	6	46800830	46800830	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr6:46800830G>C	ENST00000230588.4	+	11	1173	c.1164G>C	c.(1162-1164)tgG>tgC	p.W388C		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	388	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|meprin A complex (GO:0017090)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.W388C(1)|p.W388*(1)		NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			ACCACAATTGGAAAATTGCCC	0.463																																						uc010jzh.1																			2	Substitution - Missense(1)|Substitution - Nonsense(1)		lung(1)|kidney(1)	pancreas(2)|ovary(1)	3						c.(1162-1164)TGG>TGC		meprin A alpha precursor							92.0	92.0	92.0					6																	46800830		2203	4300	6503	SO:0001583	missense	4224				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding	g.chr6:46800830G>C		CCDS4918.1	6p12-p11	2010-10-18			ENSG00000112818	ENSG00000112818	3.4.24.18		7015	protein-coding gene	gene with protein product		600388				7774936	Standard	NM_005588		Approved	PPHA	uc010jzh.1	Q16819	OTTHUMG00000014790	ENST00000230588.4:c.1164G>C	6.37:g.46800830G>C	ENSP00000230588:p.Trp388Cys					MEP1A_uc011dwg.1_Missense_Mutation_p.W110C|MEP1A_uc011dwh.1_Missense_Mutation_p.W416C|MEP1A_uc011dwi.1_Missense_Mutation_p.W288C	p.W388C	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	Lung(136;0.192)		11	1206	+			388			Extracellular (Potential).|MAM.		A2RRM4|B0AZP9|B2RCS2|Q8TDC9|Q9H1R1	Missense_Mutation	SNP	ENST00000230588.4	37	c.1164G>C	CCDS4918.1	.	.	.	.	.	.	.	.	.	.	G	16.44	3.123649	0.56613	.	.	ENSG00000112818	ENST00000230588	T	0.54071	0.59	5.57	5.57	0.84162	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.000000	0.85682	D	0.000000	T	0.79873	0.4521	H	0.95816	3.725	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85642	0.1277	10	0.87932	D	0	-13.7877	19.5623	0.95376	0.0:0.0:1.0:0.0	.	416;388	B7ZL91;Q16819	.;MEP1A_HUMAN	C	388	ENSP00000230588:W388C	ENSP00000230588:W388C	W	+	3	0	MEP1A	46908789	1.000000	0.71417	1.000000	0.80357	0.308000	0.27856	9.869000	0.99810	2.619000	0.88677	0.650000	0.86243	TGG		PASS	0.463	MEP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040803.1	NM_005588		43	299	43	299	---	---	---	---
LGSN	51557	broad.mit.edu	37	6	63990933	63990933	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr6:63990933C>T	ENST00000370657.4	-	4	556	c.523G>A	c.(523-525)Gtg>Atg	p.V175M	LGSN_ENST00000370658.5_Missense_Mutation_p.V175M			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	175					glutamine biosynthetic process (GO:0006542)	plasma membrane (GO:0005886)	glutamate-ammonia ligase activity (GO:0004356)	p.V175M(1)		NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TCACCAGTCACAGTGAAGGTA	0.458																																						uc003peh.2																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(523-525)GTG>ATG		lengsin, lens protein with glutamine synthetase	L-Glutamic Acid(DB00142)						115.0	106.0	109.0					6																	63990933		2203	4300	6503	SO:0001583	missense	51557				glutamine biosynthetic process		glutamate-ammonia ligase activity	g.chr6:63990933C>T	AF242388	CCDS4964.1, CCDS55027.1	6q12	2013-09-19	2008-09-19	2008-09-19	ENSG00000146166	ENSG00000146166			21016	protein-coding gene	gene with protein product		611470	"""glutamate-ammonia ligase (glutamine synthetase) domain containing 1"""	GLULD1		12107412	Standard	NM_016571		Approved	LGS	uc003peh.3	Q5TDP6	OTTHUMG00000014946	ENST00000370657.4:c.523G>A	6.37:g.63990933C>T	ENSP00000359691:p.Val175Met					LGSN_uc003pei.2_Missense_Mutation_p.V175M	p.V175M	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN			4	557	-			175					A1L421|Q0PVN9|Q0PVP0|Q9NYJ0	Missense_Mutation	SNP	ENST00000370657.4	37	c.523G>A	CCDS4964.1	.	.	.	.	.	.	.	.	.	.	C	11.31	1.600324	0.28534	.	.	ENSG00000146166	ENST00000370658;ENST00000370657	T;T	0.44083	0.93;0.93	5.7	4.73	0.59995	Glutamine synthetase, beta-Grasp (2);	0.249920	0.43110	D	0.000613	T	0.41949	0.1181	L	0.40543	1.245	0.38358	D	0.944539	D;D	0.89917	1.0;0.969	D;P	0.80764	0.994;0.893	T	0.40720	-0.9548	10	0.62326	D	0.03	-19.0585	8.3828	0.32481	0.0:0.8025:0.0:0.1975	.	175;175	Q5TDP6-2;Q5TDP6	.;LGSN_HUMAN	M	175	ENSP00000359692:V175M;ENSP00000359691:V175M	ENSP00000359691:V175M	V	-	1	0	LGSN	64048892	0.758000	0.28405	0.707000	0.30419	0.028000	0.11728	1.451000	0.35145	2.695000	0.91970	0.650000	0.86243	GTG		PASS	0.458	LGSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041076.2	NM_016571		47	100	47	100	---	---	---	---
RIMS1	22999	broad.mit.edu	37	6	73000538	73000538	+	Silent	SNP	G	G	A			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr6:73000538G>A	ENST00000521978.1	+	25	3711	c.3711G>A	c.(3709-3711)tcG>tcA	p.S1237S	RIMS1_ENST00000264839.7_Intron|RIMS1_ENST00000520567.1_Intron|RIMS1_ENST00000518273.1_Intron|RIMS1_ENST00000538414.1_Intron|RIMS1_ENST00000401910.3_Intron|RIMS1_ENST00000523963.1_Intron|RIMS1_ENST00000425662.2_Intron|RIMS1_ENST00000517960.1_Intron|RIMS1_ENST00000491071.2_Intron|RIMS1_ENST00000517827.1_Intron|RIMS1_ENST00000522291.1_Intron|RIMS1_ENST00000348717.5_Intron	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1237					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)	p.S1237S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CTGGAGGGTCGGCGCCACCTT	0.552																																						uc003pga.2																			1	Substitution - coding silent(1)		lung(1)	ovary(7)|pancreas(2)|breast(1)	10						c.(3709-3711)TCG>TCA		regulating synaptic membrane exocytosis 1							76.0	79.0	78.0					6																	73000538		2124	4227	6351	SO:0001819	synonymous_variant	22999				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr6:73000538G>A	AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.3711G>A	6.37:g.73000538G>A						RIMS1_uc011dyb.1_Intron|RIMS1_uc003pgc.2_Intron|RIMS1_uc010kaq.2_Intron|RIMS1_uc011dyc.1_Intron|RIMS1_uc010kar.2_Intron|RIMS1_uc011dyd.1_Intron|RIMS1_uc003pgf.2_Intron|RIMS1_uc003pgg.2_Intron|RIMS1_uc003pgi.2_Intron|RIMS1_uc003pgh.2_Intron|RIMS1_uc003pgd.2_Intron|RIMS1_uc003pge.2_Intron|RIMS1_uc011dye.1_Intron|RIMS1_uc011dyf.1_Intron	p.S1237S	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN			25	3788	+		all_epithelial(107;0.179)|all_hematologic(105;0.212)	1237					A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Silent	SNP	ENST00000521978.1	37	c.3711G>A	CCDS47449.1																																																																																				PASS	0.552	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1			15	39	15	39	---	---	---	---
SCML4	256380	broad.mit.edu	37	6	108066209	108066209	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr6:108066209C>T	ENST00000369020.3	-	5	871	c.626G>A	c.(625-627)aGg>aAg	p.R209K	SCML4_ENST00000369022.2_Missense_Mutation_p.R151K|SCML4_ENST00000479803.1_5'Flank|SCML4_ENST00000369021.3_Missense_Mutation_p.R180K	NM_198081.3	NP_932347.2	Q8N228	SCML4_HUMAN	sex comb on midleg-like 4 (Drosophila)	209					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R209K(1)|p.R180K(1)		endometrium(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(1)	25		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)		ACTGCAGCCCCTGGGGAAGGG	0.612																																						uc010kdf.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(625-627)AGG>AAG		sex comb on midleg-like 4							84.0	73.0	76.0					6																	108066209		2203	4300	6503	SO:0001583	missense	256380				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr6:108066209C>T		CCDS5060.2, CCDS69163.1, CCDS75500.1	6q21	2013-01-10			ENSG00000146285	ENSG00000146285		"""Sterile alpha motif (SAM) domain containing"""	21397	protein-coding gene	gene with protein product							Standard	NM_001286409		Approved	dJ47M23.1	uc010kdf.3	Q8N228	OTTHUMG00000015313	ENST00000369020.3:c.626G>A	6.37:g.108066209C>T	ENSP00000358016:p.Arg209Lys					SCML4_uc003prz.3_Missense_Mutation_p.R151K|SCML4_uc011eam.1_Missense_Mutation_p.R209K|SCML4_uc003psa.3_Missense_Mutation_p.R180K	p.R209K	NM_198081	NP_932347	Q8N228	SCML4_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)	5	877	-		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)	209					B0QZ10|B0QZ11|B7ZBX3|Q5JXD0|Q5T0T6|Q8IYY6	Missense_Mutation	SNP	ENST00000369020.3	37	c.626G>A	CCDS5060.2	.	.	.	.	.	.	.	.	.	.	C	10.48	1.361727	0.24684	.	.	ENSG00000146285	ENST00000369022;ENST00000369020;ENST00000369021;ENST00000440927	T;T;T;T	0.41400	1.04;1.03;1.03;1.0	5.38	3.46	0.39613	.	0.273206	0.36740	N	0.002433	T	0.08268	0.0206	N	0.22421	0.69	0.25119	N	0.99066	B;B;B	0.23591	0.001;0.036;0.088	B;B;B	0.24006	0.002;0.028;0.05	T	0.25745	-1.0123	10	0.10636	T	0.68	.	4.4142	0.11448	0.0:0.5976:0.0:0.4024	.	209;209;180	B4E0X3;Q8N228;Q8N228-3	.;SCML4_HUMAN;.	K	151;209;180;180	ENSP00000358018:R151K;ENSP00000358016:R209K;ENSP00000358017:R180K;ENSP00000404688:R180K	ENSP00000358016:R209K	R	-	2	0	SCML4	108172902	0.153000	0.22777	0.986000	0.45419	0.937000	0.57800	0.700000	0.25601	1.503000	0.48686	0.655000	0.94253	AGG		PASS	0.612	SCML4-005	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000041700.3	XM_171128		83	150	83	150	---	---	---	---
HS3ST5	222537	broad.mit.edu	37	6	114378471	114378471	+	Missense_Mutation	SNP	A	A	G			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr6:114378471A>G	ENST00000312719.5	-	5	2179	c.991T>C	c.(991-993)Ttt>Ctt	p.F331L	HS3ST5_ENST00000411826.1_Missense_Mutation_p.F331L|RP3-399L15.3_ENST00000519270.1_RNA|RP3-399L15.3_ENST00000523087.1_RNA|RP3-399L15.3_ENST00000519104.1_RNA			Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 5	331					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|negative regulation of coagulation (GO:0050819)|protein sulfation (GO:0006477)|regulation of viral entry into host cell (GO:0046596)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)	p.F331L(1)		breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		TTTTGATTAAAAGGATGAAAG	0.413																																						uc003pwg.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(991-993)TTT>CTT		heparan sulfate (glucosamine)							64.0	67.0	66.0					6																	114378471		2203	4300	6503	SO:0001583	missense	222537				heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding	g.chr6:114378471A>G	AF503292	CCDS34517.1	6q21	2011-11-16			ENSG00000249853	ENSG00000249853		"""Sulfotransferases, membrane-bound"""	19419	protein-coding gene	gene with protein product		609407				12138164	Standard	NM_153612		Approved	3-OST-5	uc003pwg.4	Q8IZT8	OTTHUMG00000015412	ENST00000312719.5:c.991T>C	6.37:g.114378471A>G	ENSP00000427888:p.Phe331Leu					uc003pwf.2_Intron|HS3ST5_uc003pwh.3_Missense_Mutation_p.F331L	p.F331L	NM_153612	NP_705840	Q8IZT8	HS3S5_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)	2	1023	-		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)	331			Lumenal (Potential).		A8K1J2|Q52LI2|Q8N285	Missense_Mutation	SNP	ENST00000312719.5	37	c.991T>C	CCDS34517.1	.	.	.	.	.	.	.	.	.	.	A	16.50	3.141663	0.57044	.	.	ENSG00000249853	ENST00000312719;ENST00000411826	T;T	0.54071	0.59;0.59	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.29749	0.0743	L	0.31752	0.955	0.54753	D	0.999986	P	0.46859	0.885	B	0.40901	0.343	T	0.07366	-1.0776	10	0.29301	T	0.29	.	16.5446	0.84426	1.0:0.0:0.0:0.0	.	331	Q8IZT8	HS3S5_HUMAN	L	331	ENSP00000427888:F331L;ENSP00000440332:F331L	ENSP00000427888:F331L	F	-	1	0	HS3ST5	114485164	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	6.353000	0.73032	2.311000	0.77944	0.533000	0.62120	TTT		PASS	0.413	HS3ST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041911.2	NM_153612		44	239	44	239	---	---	---	---
LATS1	9113	broad.mit.edu	37	6	150001043	150001043	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr6:150001043C>T	ENST00000543571.1	-	5	3108	c.2561G>A	c.(2560-2562)aGa>aAa	p.R854K	LATS1_ENST00000253339.5_Missense_Mutation_p.R854K|LATS1_ENST00000542747.1_5'UTR	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1									p.R854K(2)		central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		GTGTGTCCATCTGAAGCCAGT	0.289																																						uc003qmu.1																			2	Substitution - Missense(2)		lung(2)	lung(5)|central_nervous_system(1)	6						c.(2560-2562)AGA>AAA		LATS homolog 1							65.0	66.0	65.0					6																	150001043		2203	4300	6503	SO:0001583	missense	9113				cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity	g.chr6:150001043C>T	AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023			6514	protein-coding gene	gene with protein product		603473	"""LATS (large tumor suppressor, Drosophila) homolog 1"", ""LATS, large tumor suppressor, homolog 1 (Drosophila)"""			9988268, 15122335	Standard	NM_004690		Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.2561G>A	6.37:g.150001043C>T	ENSP00000437550:p.Arg854Lys					LATS1_uc010kif.1_Missense_Mutation_p.R749K|LATS1_uc003qmv.1_Missense_Mutation_p.R854K	p.R854K	NM_004690	NP_004681	O95835	LATS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)	5	3109	-		Ovarian(120;0.0164)	854			Protein kinase.			Missense_Mutation	SNP	ENST00000543571.1	37	c.2561G>A	CCDS34551.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.982026	0.93044	.	.	ENSG00000131023	ENST00000543571;ENST00000253339	T;T	0.55052	0.54;0.54	5.65	5.65	0.86999	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	0.000020	T	0.36220	0.0959	N	0.16037	0.36	0.80722	D	1	B	0.32731	0.382	P	0.45119	0.47	T	0.29882	-0.9997	9	.	.	.	.	20.0781	0.97751	0.0:1.0:0.0:0.0	.	854	O95835	LATS1_HUMAN	K	854	ENSP00000437550:R854K;ENSP00000253339:R854K	.	R	-	2	0	LATS1	150042736	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.817000	0.96982	0.563000	0.77884	AGA		PASS	0.289	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043923.4	NM_004690		29	130	29	130	---	---	---	---
SLC29A4	222962	broad.mit.edu	37	7	5331402	5331402	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr7:5331402C>T	ENST00000396872.3	+	5	655	c.494C>T	c.(493-495)gCc>gTc	p.A165V	SLC29A4_ENST00000406453.3_Missense_Mutation_p.P153S|SLC29A4_ENST00000297195.4_Missense_Mutation_p.A165V			Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4	165					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)	p.A165V(1)		breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)	Metformin(DB00331)	CGGGACCAGGCCTACGCCATC	0.637																																						uc003sod.2																			1	Substitution - Missense(1)		lung(1)	liver(1)	1						c.(493-495)GCC>GTC		solute carrier family 29 (nucleoside							66.0	63.0	64.0					7																	5331402		2203	4300	6503	SO:0001583	missense	222962				nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity	g.chr7:5331402C>T	AK075422	CCDS5340.1, CCDS75561.1	7p22.2	2013-07-17	2013-07-17		ENSG00000164638	ENSG00000164638		"""Solute carriers"""	23097	protein-coding gene	gene with protein product		609149	"""solute carrier family 29 (nucleoside transporters), member 4"""			12838422	Standard	NM_153247		Approved	FLJ34923, ENT4	uc003soc.3	Q7RTT9	OTTHUMG00000023797	ENST00000396872.3:c.494C>T	7.37:g.5331402C>T	ENSP00000380081:p.Ala165Val					SLC29A4_uc011jwg.1_RNA|SLC29A4_uc003soc.2_Missense_Mutation_p.A165V|SLC29A4_uc003soe.2_Missense_Mutation_p.P153S	p.A165V	NM_153247	NP_694979	Q7RTT9	S29A4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)	5	655	+		Ovarian(82;0.0175)	165			Cytoplasmic (Potential).		Q6PJ08|Q86WY8|Q8NAR3|Q8NBM2	Missense_Mutation	SNP	ENST00000396872.3	37	c.494C>T	CCDS5340.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	24.3|24.3	4.513203|4.513203	0.85389|0.85389	.|.	.|.	ENSG00000164638|ENSG00000164638	ENST00000396872;ENST00000297195|ENST00000406453	T;T|T	0.34472|0.61627	1.36;1.36|0.09	4.41|4.41	4.41|4.41	0.53225|0.53225	Major facilitator superfamily domain, general substrate transporter (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.61035|0.61035	0.2315|0.2315	M|M	0.78916|0.78916	2.43|2.43	0.24754|0.24754	N|N	0.992963|0.992963	P|B	0.41624|0.22909	0.757|0.077	B|B	0.39185|0.25140	0.293|0.058	T|T	0.54516|0.54516	-0.8282|-0.8282	9|8	.|.	.|.	.|.	-16.6461|-16.6461	15.189|15.189	0.73028|0.73028	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	165|153	Q7RTT9|Q7RTT9-2	S29A4_HUMAN|.	V|S	165|153	ENSP00000380081:A165V;ENSP00000297195:A165V|ENSP00000385845:P153S	.|.	A|P	+|+	2|1	0|0	SLC29A4|SLC29A4	5297928|5297928	1.000000|1.000000	0.71417|0.71417	0.937000|0.937000	0.37676|0.37676	0.932000|0.932000	0.56968|0.56968	7.361000|7.361000	0.79497|0.79497	2.005000|2.005000	0.58758|0.58758	0.511000|0.511000	0.50034|0.50034	GCC|CCT		PASS	0.637	SLC29A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060118.6	NM_153247		49	159	49	159	---	---	---	---
DGKB	1607	broad.mit.edu	37	7	14661004	14661004	+	Splice_Site	SNP	T	T	C			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr7:14661004T>C	ENST00000403951.2	-	15	1705	c.1286A>G	c.(1285-1287)cAg>cGg	p.Q429R	DGKB_ENST00000258767.5_Splice_Site_p.Q429R|DGKB_ENST00000402815.1_Splice_Site_p.Q428R|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000444700.2_Splice_Site_p.Q410R|DGKB_ENST00000399322.3_Splice_Site_p.Q429R|DGKB_ENST00000406247.3_Splice_Site_p.Q429R|DGKB_ENST00000407950.1_Splice_Site_p.Q421R			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	429					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)	p.Q429R(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						AAATCATACCTGCAGGCCTTG	0.363																																						uc003ssz.2																			1	Substitution - Missense(1)		lung(1)	lung(5)|ovary(4)|breast(2)|skin(1)	12						c.(1285-1287)CAG>CGG		diacylglycerol kinase, beta isoform 1	Phosphatidylserine(DB00144)						105.0	91.0	95.0					7																	14661004		1826	4071	5897	SO:0001630	splice_region_variant	1607				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding	g.chr7:14661004T>C	AB018261	CCDS47547.1, CCDS47548.1	7p21.2	2013-01-10	2002-08-29		ENSG00000136267	ENSG00000136267	2.7.1.107	"""EF-hand domain containing"""	2850	protein-coding gene	gene with protein product		604070	"""diacylglycerol kinase, beta (90kD)"""	DAGK2		7689223	Standard	NM_004080		Approved	KIAA0718, DGK, DGK-BETA	uc003ssz.3	Q9Y6T7	OTTHUMG00000152477	ENST00000403951.2:c.1287+1A>G	7.37:g.14661004T>C						DGKB_uc011jxt.1_Missense_Mutation_p.Q410R|DGKB_uc003sta.2_Missense_Mutation_p.Q429R|DGKB_uc011jxu.1_Missense_Mutation_p.Q428R	p.Q429R	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN			14	1473	-			429					A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Missense_Mutation	SNP	ENST00000403951.2	37	c.1286A>G	CCDS47547.1	.	.	.	.	.	.	.	.	.	.	T	12.38	1.921364	0.33908	.	.	ENSG00000136267	ENST00000403951;ENST00000399322;ENST00000258767;ENST00000402815;ENST00000407950;ENST00000444700;ENST00000406247	T;T;T;T;T;T;T	0.79749	-1.21;-1.21;-1.21;-1.2;-1.2;-1.21;-1.3	4.85	4.85	0.62838	.	0.082386	0.50627	D	0.000106	T	0.71558	0.3354	L	0.41906	1.305	0.50813	D	0.999892	B;B;B;B	0.22746	0.021;0.008;0.008;0.074	B;B;B;B	0.17979	0.019;0.017;0.017;0.02	T	0.66428	-0.5926	10	0.12766	T	0.61	.	14.7204	0.69302	0.0:0.0:0.0:1.0	.	428;410;429;429	B7ZL83;C9JTC0;Q9Y6T7-2;Q9Y6T7	.;.;.;DGKB_HUMAN	R	429;429;429;428;421;410;429	ENSP00000385780:Q429R;ENSP00000382260:Q429R;ENSP00000258767:Q429R;ENSP00000384909:Q428R;ENSP00000385031:Q421R;ENSP00000388451:Q410R;ENSP00000386066:Q429R	ENSP00000258767:Q429R	Q	-	2	0	DGKB	14627529	1.000000	0.71417	0.999000	0.59377	0.622000	0.37654	6.813000	0.75231	1.940000	0.56252	0.254000	0.18369	CAG		PASS	0.363	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000326356.2	NM_004080	Missense_Mutation	17	29	17	29	---	---	---	---
CPVL	54504	broad.mit.edu	37	7	29152388	29152388	+	Missense_Mutation	SNP	A	A	T			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr7:29152388A>T	ENST00000409850.1	-	7	866	c.220T>A	c.(220-222)Tat>Aat	p.Y74N	CPVL_ENST00000265394.5_Missense_Mutation_p.Y74N|CPVL_ENST00000488891.2_5'UTR|CPVL_ENST00000396276.3_Missense_Mutation_p.Y74N			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	74						extracellular vesicular exosome (GO:0070062)	serine-type carboxypeptidase activity (GO:0004185)	p.Y74N(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						AAGCCGGCATAACTCTTCATG	0.453																																						uc003szv.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(220-222)TAT>AAT		serine carboxypeptidase vitellogenic-like							98.0	90.0	92.0					7																	29152388		2203	4300	6503	SO:0001583	missense	54504				proteolysis		protein binding|serine-type carboxypeptidase activity	g.chr7:29152388A>T	AF106704	CCDS5419.1	7p15.1	2012-02-10			ENSG00000106066	ENSG00000106066			14399	protein-coding gene	gene with protein product	"""carboxypeptidase WUG"", ""vitellogenic carboxypeptidase-like protein"", ""CP-Mac carboxypeptidase"""	609780				11401439	Standard	XM_005249786		Approved		uc003szw.3	Q9H3G5	OTTHUMG00000023669	ENST00000409850.1:c.220T>A	7.37:g.29152388A>T	ENSP00000387164:p.Tyr74Asn					CPVL_uc003szw.2_Missense_Mutation_p.Y74N|CPVL_uc003szx.2_Missense_Mutation_p.Y74N	p.Y74N	NM_031311	NP_112601	Q9H3G5	CPVL_HUMAN			3	339	-			74					A4D1A4|Q6UX20|Q8NBL7|Q96AR7|Q9HB41	Missense_Mutation	SNP	ENST00000409850.1	37	c.220T>A	CCDS5419.1	.	.	.	.	.	.	.	.	.	.	A	17.07	3.295944	0.60086	.	.	ENSG00000106066	ENST00000265394;ENST00000396276;ENST00000409850;ENST00000448959;ENST00000447426	D;D;D;D;D	0.87887	-2.31;-2.31;-2.31;-2.31;-2.31	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.94955	0.8368	M	0.92122	3.275	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95945	0.8950	10	0.87932	D	0	2.3136	15.1839	0.72982	1.0:0.0:0.0:0.0	.	74	Q9H3G5	CPVL_HUMAN	N	74;74;74;4;4	ENSP00000265394:Y74N;ENSP00000379572:Y74N;ENSP00000387164:Y74N;ENSP00000409036:Y4N;ENSP00000395690:Y4N	ENSP00000265394:Y74N	Y	-	1	0	CPVL	29118913	1.000000	0.71417	0.688000	0.30117	0.118000	0.20060	8.133000	0.89605	2.227000	0.72691	0.459000	0.35465	TAT		PASS	0.453	CPVL-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328305.1	NM_019029		41	125	41	125	---	---	---	---
FAM188B	84182	broad.mit.edu	37	7	30868295	30868295	+	Splice_Site	SNP	G	G	A			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr7:30868295G>A	ENST00000265299.6	+	6	1151	c.1074G>A	c.(1072-1074)agG>agA	p.R358R	INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	358								p.R358R(1)		endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TATTTTCCAGGAAAAATCAGT	0.522																																						uc003tbt.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1072-1074)AGG>AGA		hypothetical protein LOC84182							134.0	135.0	135.0					7																	30868295		1958	4160	6118	SO:0001630	splice_region_variant	84182							g.chr7:30868295G>A	AK026027	CCDS43565.1	7p14.3	2010-08-17	2009-07-14	2009-07-14	ENSG00000106125	ENSG00000106125			21916	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 67"""	C7orf67			Standard	NM_032222		Approved	FLJ22374	uc003tbt.3	Q4G0A6	OTTHUMG00000152800	ENST00000265299.6:c.1074-1G>A	7.37:g.30868295G>A						FAM188B_uc010kwe.2_Silent_p.R329R	p.R358R	NM_032222	NP_115598	Q4G0A6	F188B_HUMAN			6	1151	+			358					Q71AZ7|Q9H6D2	Silent	SNP	ENST00000265299.6	37	c.1074G>A	CCDS43565.1																																																																																				PASS	0.522	FAM188B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327962.1	NM_032222	Silent	135	404	135	404	---	---	---	---
ABCA13	154664	broad.mit.edu	37	7	48522715	48522715	+	Silent	SNP	T	T	A			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr7:48522715T>A	ENST00000435803.1	+	47	13161	c.13137T>A	c.(13135-13137)gcT>gcA	p.A4379A	ABCA13_ENST00000544596.1_Silent_p.A109A	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4379					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.A4379A(1)|p.A4324A(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						CCAGTGAAGCTGGAGGTGCAA	0.373																																						uc003toq.2																			2	Substitution - coding silent(2)		lung(2)	ovary(5)|central_nervous_system(4)|skin(1)	10						c.(13135-13137)GCT>GCA		ATP binding cassette, sub-family A (ABC1),							93.0	84.0	87.0					7																	48522715		1829	4100	5929	SO:0001819	synonymous_variant	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48522715T>A	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.13137T>A	7.37:g.48522715T>A						ABCA13_uc010kys.1_Silent_p.A1454A|ABCA13_uc010kyt.1_RNA|ABCA13_uc010kyu.1_Silent_p.A109A	p.A4379A	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			47	13162	+			4379					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	ENST00000435803.1	37	c.13137T>A	CCDS47584.1																																																																																				PASS	0.373	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		15	36	15	36	---	---	---	---
HGF	3082	broad.mit.edu	37	7	81392130	81392130	+	Silent	SNP	G	G	A			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr7:81392130G>A	ENST00000222390.5	-	2	373	c.147C>T	c.(145-147)acC>acT	p.T49T	HGF_ENST00000444829.2_Silent_p.T49T|HGF_ENST00000354224.6_Silent_p.T49T|HGF_ENST00000453411.1_Silent_p.T49T|HGF_ENST00000457544.2_Silent_p.T49T|HGF_ENST00000453018.1_5'UTR|HGF_ENST00000423064.2_Silent_p.T49T	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	49	PAN. {ECO:0000255|PROSITE- ProRule:PRU00315}.				activation of MAPK activity (GO:0000187)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epithelial to mesenchymal transition (GO:0001837)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|hyaluronan metabolic process (GO:0030212)|liver development (GO:0001889)|mitotic nuclear division (GO:0007067)|myoblast proliferation (GO:0051450)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of hydrogen peroxide-mediated programmed cell death (GO:1901299)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|organ regeneration (GO:0031100)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	catalytic activity (GO:0003824)|chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)	p.T49T(1)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						TTTTGATTAGGGTAGTCTTTG	0.299																																						uc003uhl.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(2)	4						c.(145-147)ACC>ACT		hepatocyte growth factor isoform 1							180.0	162.0	168.0					7																	81392130		2203	4298	6501	SO:0001819	synonymous_variant	3082				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	g.chr7:81392130G>A		CCDS5597.1, CCDS47626.1, CCDS47627.1, CCDS47628.1, CCDS47629.1	7q21.1	2009-09-11			ENSG00000019991	ENSG00000019991			4893	protein-coding gene	gene with protein product	"""hepatopoietin A"", ""fibroblast-derived tumor cytotoxic factor"", ""scatter factor"", ""lung fibroblast-derived mitogen"""	142409	"""deafness, autosomal recessive 39"""	DFNB39		1837206, 19576567	Standard	XM_006715956		Approved	SF, F-TCF, HGFB, HPTA	uc003uhl.3	P14210	OTTHUMG00000023804	ENST00000222390.5:c.147C>T	7.37:g.81392130G>A						HGF_uc003uhm.2_Silent_p.T49T|HGF_uc003uhn.1_Silent_p.T49T|HGF_uc003uho.1_Silent_p.T49T|HGF_uc003uhp.2_Silent_p.T49T	p.T49T	NM_000601	NP_000592	P14210	HGF_HUMAN			2	312	-			49			PAN.		A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Silent	SNP	ENST00000222390.5	37	c.147C>T	CCDS5597.1																																																																																				PASS	0.299	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253315.2	NM_000601		33	97	33	97	---	---	---	---
SLC25A40	55972	broad.mit.edu	37	7	87477196	87477196	+	Silent	SNP	T	T	A			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr7:87477196T>A	ENST00000341119.5	-	7	775	c.429A>T	c.(427-429)atA>atT	p.I143I		NM_018843.3	NP_061331.2	Q8TBP6	S2540_HUMAN	solute carrier family 25, member 40	143					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)		p.I143I(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	17	Esophageal squamous(14;0.00202)					CAACAATTGGTATGCAGGTTT	0.348																																						uc003uje.2																			1	Substitution - coding silent(1)		lung(1)	haematopoietic_and_lymphoid_tissue(1)	1						c.(427-429)ATA>ATT		mitochondrial carrier family protein							55.0	54.0	54.0					7																	87477196		2203	4300	6503	SO:0001819	synonymous_variant	55972				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr7:87477196T>A	AF125531	CCDS5610.1	7q21.12	2013-05-22			ENSG00000075303	ENSG00000075303		"""Solute carriers"""	29680	protein-coding gene	gene with protein product		610821				16949250	Standard	NM_018843		Approved	MCFP	uc003uje.3	Q8TBP6	OTTHUMG00000131033	ENST00000341119.5:c.429A>T	7.37:g.87477196T>A							p.I143I	NM_018843	NP_061331	Q8TBP6	S2540_HUMAN			7	780	-	Esophageal squamous(14;0.00202)		143			Helical; Name=3; (Potential).|Solcar 2.		A8K483|D6W5P6|Q53GB1|Q9UHR1	Silent	SNP	ENST00000341119.5	37	c.429A>T	CCDS5610.1																																																																																				PASS	0.348	SLC25A40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253677.5	NM_018843		31	80	31	80	---	---	---	---
TFPI2	7980	broad.mit.edu	37	7	93519463	93519463	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr7:93519463C>T	ENST00000222543.5	-	2	569	c.257G>A	c.(256-258)tGc>tAc	p.C86Y	AC002076.10_ENST00000435257.1_RNA|GNGT1_ENST00000455502.1_Intron|TFPI2_ENST00000545378.1_Missense_Mutation_p.C86Y	NM_001271003.1|NM_001271004.1|NM_006528.3	NP_001257932.1|NP_001257933.1|NP_006519.1	P48307	TFPI2_HUMAN	tissue factor pathway inhibitor 2	86	BPTI/Kunitz inhibitor 1. {ECO:0000255|PROSITE-ProRule:PRU00031}.				blood coagulation (GO:0007596)	nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.C86Y(1)		endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			TATCCTCCAGCAAGCATCGTC	0.612																																						uc003umy.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(256-258)TGC>TAC		tissue factor pathway inhibitor 2 precursor							31.0	33.0	32.0					7																	93519463		2202	4300	6502	SO:0001583	missense	7980				blood coagulation	proteinaceous extracellular matrix	extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity	g.chr7:93519463C>T	L27624	CCDS5632.1	7q	2008-07-18			ENSG00000105825	ENSG00000105825			11761	protein-coding gene	gene with protein product		600033				7896752, 8945635	Standard	NM_006528		Approved	PP5, TFPI-2, REF1	uc003umy.2	P48307	OTTHUMG00000022963	ENST00000222543.5:c.257G>A	7.37:g.93519463C>T	ENSP00000222543:p.Cys86Tyr					GNGT1_uc003umx.1_Intron|TFPI2_uc003umz.1_Missense_Mutation_p.C86Y|TFPI2_uc003una.1_Missense_Mutation_p.C75Y|TFPI2_uc003unb.1_Missense_Mutation_p.C86Y|TFPI2_uc010lfg.1_Intron	p.C86Y	NM_006528	NP_006519	P48307	TFPI2_HUMAN	STAD - Stomach adenocarcinoma(171;0.000967)		2	332	-	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		86			BPTI/Kunitz inhibitor 1.		Q66ME8|Q8NAK6|Q9UC86	Missense_Mutation	SNP	ENST00000222543.5	37	c.257G>A	CCDS5632.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.352036	0.82132	.	.	ENSG00000105825	ENST00000222543;ENST00000545378;ENST00000451238	D;D;T	0.98512	-4.97;-4.97;-0.13	5.09	5.09	0.68999	Proteinase inhibitor I2, Kunitz metazoa (5);	0.000000	0.85682	D	0.000000	D	0.99515	0.9827	H	0.99525	4.61	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.97730	1.0202	10	0.87932	D	0	.	18.4832	0.90819	0.0:1.0:0.0:0.0	.	57;75;86;86	A4ZVU7;Q8NAK6;F5H3J8;P48307	.;.;.;TFPI2_HUMAN	Y	86;86;7	ENSP00000222543:C86Y;ENSP00000438861:C86Y;ENSP00000416370:C7Y	ENSP00000222543:C86Y	C	-	2	0	TFPI2	93357399	1.000000	0.71417	0.996000	0.52242	0.035000	0.12851	6.113000	0.71553	2.538000	0.85594	0.313000	0.20887	TGC		PASS	0.612	TFPI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254720.2	NM_006528		32	99	32	99	---	---	---	---
COPS6	10980	broad.mit.edu	37	7	99688910	99688910	+	Silent	SNP	C	C	T			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr7:99688910C>T	ENST00000303904.3	+	8	736	c.699C>T	c.(697-699)agC>agT	p.S233S	COPS6_ENST00000418625.1_Silent_p.S232S|MIR106B_ENST00000385301.1_RNA|MIR25_ENST00000384816.1_RNA|MIR93_ENST00000385024.1_RNA	NM_006833.4	NP_006824.2	Q7L5N1	CSN6_HUMAN	COP9 signalosome subunit 6	233	Interaction with Vpr.				cullin deneddylation (GO:0010388)|viral process (GO:0016032)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)		p.S233S(1)		breast(1)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|stomach(1)	12	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			TGCTGCACAGCCGCGTCAAGC	0.587																																						uc003usu.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(697-699)AGC>AGT		COP9 signalosome subunit 6							195.0	183.0	187.0					7																	99688910		2203	4300	6503	SO:0001819	synonymous_variant	10980				cullin deneddylation|interspecies interaction between organisms	cytoplasm|signalosome	protein binding	g.chr7:99688910C>T	BC002520	CCDS5682.1	7q22.1	2013-03-14	2013-03-14		ENSG00000168090	ENSG00000168090			21749	protein-coding gene	gene with protein product	"""COP9 subunit 6 (MOV34 homolog, 34 kD)"""	614729	"""COP9 constitutive photomorphogenic homolog subunit 6 (Arabidopsis)"""			12477932	Standard	NM_006833		Approved	MOV34-34KD, CSN6	uc003usu.3	Q7L5N1	OTTHUMG00000154632	ENST00000303904.3:c.699C>T	7.37:g.99688910C>T							p.S233S	NM_006833	NP_006824	Q7L5N1	CSN6_HUMAN	STAD - Stomach adenocarcinoma(171;0.129)		8	730	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		233			Interaction with Vpr.		A4D2A3|O15387	Silent	SNP	ENST00000303904.3	37	c.699C>T	CCDS5682.1																																																																																				PASS	0.587	COPS6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336412.3	NM_006833		6	727	6	727	---	---	---	---
ACHE	43	broad.mit.edu	37	7	100491082	100491082	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr7:100491082G>T	ENST00000412389.1	-	1	927	c.772C>A	c.(772-774)Ctg>Atg	p.L258M	ACHE_ENST00000497647.1_5'Flank|ACHE_ENST00000241069.5_Missense_Mutation_p.L258M|ACHE_ENST00000302913.4_Missense_Mutation_p.L258M|ACHE_ENST00000419336.2_Missense_Mutation_p.L258M|ACHE_ENST00000428317.1_Missense_Mutation_p.L258M|ACHE_ENST00000411582.1_Missense_Mutation_p.L258M			P22303	ACES_HUMAN	acetylcholinesterase (Yt blood group)	258					acetylcholine catabolic process (GO:0006581)|acetylcholine catabolic process in synaptic cleft (GO:0001507)|amyloid precursor protein metabolic process (GO:0042982)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|choline metabolic process (GO:0019695)|DNA replication (GO:0006260)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|negative regulation of synaptic transmission, cholinergic (GO:0032223)|nervous system development (GO:0007399)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter receptor biosynthetic process (GO:0045212)|osteoblast development (GO:0002076)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of protein secretion (GO:0050714)|protein tetramerization (GO:0051262)|receptor internalization (GO:0031623)|regulation of axonogenesis (GO:0050770)|regulation of dendrite morphogenesis (GO:0048814)|regulation of receptor recycling (GO:0001919)|response to wounding (GO:0009611)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	acetylcholine binding (GO:0042166)|acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|cholinesterase activity (GO:0004104)|collagen binding (GO:0005518)|hydrolase activity (GO:0016787)|laminin binding (GO:0043236)|protein homodimerization activity (GO:0042803)|serine hydrolase activity (GO:0017171)	p.L258M(2)		large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium(DB00944)|Dipivefrin(DB00449)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Minaprine(DB00805)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pralidoxime(DB00733)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tubocurarine(DB01199)	CCGCTCTGCAGCACGGCCCTG	0.721																																						uc003uxd.2																			2	Substitution - Missense(2)		lung(2)	skin(2)	2						c.(772-774)CTG>ATG		acetylcholinesterase isoform E4-E6 precursor	Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)						22.0	25.0	24.0					7																	100491082		2198	4297	6495	SO:0001583	missense	43				acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity	g.chr7:100491082G>T		CCDS5709.1, CCDS5710.1, CCDS64736.1	7q22	2014-07-19	2014-01-02		ENSG00000087085	ENSG00000087085	3.1.1.7	"""Blood group antigens"""	108	protein-coding gene	gene with protein product	"""Yt blood group"""	100740	"""acetylcholinesterase (YT blood group)"", ""acetylcholinesterase (Yt blood group)"", ""acetylcholinesterase"""	YT		1380483	Standard	XM_005250357		Approved		uc003uxe.3	P22303	OTTHUMG00000157033	ENST00000412389.1:c.772C>A	7.37:g.100491082G>T	ENSP00000394976:p.Leu258Met					ACHE_uc003uxe.2_Missense_Mutation_p.L258M|ACHE_uc003uxf.2_Missense_Mutation_p.L258M|ACHE_uc003uxg.2_Missense_Mutation_p.L258M|ACHE_uc003uxh.2_Missense_Mutation_p.L258M|ACHE_uc003uxi.2_Missense_Mutation_p.L258M|ACHE_uc003uxj.1_Missense_Mutation_p.L377M	p.L258M	NM_000665	NP_000656	P22303	ACES_HUMAN			1	928	-	Lung NSC(181;0.041)|all_lung(186;0.0581)		258					A4D2E2|B7ZKZ0|D6W5X7|Q16169|Q29S23|Q2M324|Q504V3|Q53F46|Q86TM9|Q86YX9|Q9BXP7	Missense_Mutation	SNP	ENST00000412389.1	37	c.772C>A	CCDS5709.1	.	.	.	.	.	.	.	.	.	.	G	2.954	-0.216075	0.06101	.	.	ENSG00000087085	ENST00000419336;ENST00000241069;ENST00000428317;ENST00000302913;ENST00000412389;ENST00000426415;ENST00000430554;ENST00000411582;ENST00000422451	T;T;T;T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54;1.54;1.54;1.54	4.95	2.66	0.31614	Carboxylesterase, type B (1);	0.143692	0.45361	N	0.000371	T	0.22742	0.0549	N	0.13003	0.285	0.48901	D	0.999725	D;P;D;D	0.62365	0.98;0.904;0.991;0.985	P;P;P;P	0.60473	0.875;0.623;0.867;0.781	T	0.39333	-0.9619	10	0.05721	T	0.95	.	4.6098	0.12397	0.19:0.0:0.6151:0.1949	.	258;258;258;258	B7WPI6;P22303-3;P22303-2;P22303	.;.;.;ACES_HUMAN	M	258	ENSP00000403474:L258M;ENSP00000241069:L258M;ENSP00000414858:L258M;ENSP00000303211:L258M;ENSP00000394976:L258M;ENSP00000397143:L258M;ENSP00000399725:L258M;ENSP00000404865:L258M	ENSP00000241069:L258M	L	-	1	2	ACHE	100329018	0.205000	0.23458	0.997000	0.53966	0.272000	0.26649	0.062000	0.14389	1.003000	0.39130	0.484000	0.47621	CTG		PASS	0.721	ACHE-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347201.1	NM_015831		27	100	27	100	---	---	---	---
PRKAR2B	5577	broad.mit.edu	37	7	106781375	106781375	+	Silent	SNP	T	T	G			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr7:106781375T>G	ENST00000265717.4	+	5	823	c.564T>G	c.(562-564)ggT>ggG	p.G188G	PRKAR2B_ENST00000393613.2_3'UTR	NM_002736.2	NP_002727.2	P31323	KAP3_HUMAN	protein kinase, cAMP-dependent, regulatory, type II, beta	188					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fatty acid metabolic process (GO:0006631)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|mitotic cell cycle (GO:0000278)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)|ubiquitin protein ligase binding (GO:0031625)	p.G188G(1)		breast(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	14						GTGACGATGGTGACAACTTTT	0.338																																						uc003vdx.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(562-564)GGT>GGG		cAMP-dependent protein kinase, regulatory							168.0	162.0	164.0					7																	106781375		2203	4300	6503	SO:0001819	synonymous_variant	5577				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport	centrosome|cytosol|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity	g.chr7:106781375T>G		CCDS5740.1	7q22.3	2010-04-22			ENSG00000005249	ENSG00000005249	2.7.11.1		9392	protein-coding gene	gene with protein product		176912		PRKAR2		1358799	Standard	NM_002736		Approved		uc003vdx.3	P31323	OTTHUMG00000137418	ENST00000265717.4:c.564T>G	7.37:g.106781375T>G							p.G188G	NM_002736	NP_002727	P31323	KAP3_HUMAN			5	739	+			188			cAMP 1.		A4D0R9	Silent	SNP	ENST00000265717.4	37	c.564T>G	CCDS5740.1																																																																																				PASS	0.338	PRKAR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268386.1			66	151	66	151	---	---	---	---
DOCK4	9732	broad.mit.edu	37	7	111638559	111638559	+	Splice_Site	SNP	C	C	T			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr7:111638559C>T	ENST00000437633.1	-	4	419		c.e4-1		DOCK4_ENST00000476846.1_Splice_Site|DOCK4_ENST00000428084.1_Splice_Site	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4						cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)	p.?(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				GAAATATACCCTGGAAAAGAA	0.393																																						uc003vfx.2																			2	Unknown(2)		lung(2)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4						c.e4-1		dedicator of cytokinesis 4							84.0	78.0	80.0					7																	111638559		1851	4097	5948	SO:0001630	splice_region_variant	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	g.chr7:111638559C>T		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.163-1G>A	7.37:g.111638559C>T						DOCK4_uc003vfy.2_Splice_Site_p.G55_splice|DOCK4_uc003vga.1_Splice_Site|DOCK4_uc010ljt.1_Splice_Site_p.G55_splice|DOCK4_uc003vgb.1_Splice_Site	p.G55_splice	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN			4	432	-		Acute lymphoblastic leukemia(1;0.0441)						O14584|O94824|Q8NB45	Splice_Site	SNP	ENST00000437633.1	37	c.163_splice	CCDS47688.1	.	.	.	.	.	.	.	.	.	.	C	19.73	3.881811	0.72294	.	.	ENSG00000128512	ENST00000352877;ENST00000428084;ENST00000437633;ENST00000445943;ENST00000342288;ENST00000544250	.	.	.	5.35	5.35	0.76521	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5859	0.84727	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DOCK4	111425795	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	7.155000	0.77445	2.681000	0.91329	0.563000	0.77884	.		PASS	0.393	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705	Intron	5	5	5	5	---	---	---	---
PDIA4	9601	broad.mit.edu	37	7	148702263	148702263	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr7:148702263G>C	ENST00000286091.4	-	9	1724	c.1492C>G	c.(1492-1494)Ctc>Gtc	p.L498V		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	498					cell redox homeostasis (GO:0045454)|chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein secretion (GO:0009306)|response to endoplasmic reticulum stress (GO:0034976)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)	poly(A) RNA binding (GO:0044822)|protein disulfide isomerase activity (GO:0003756)	p.L498V(1)		large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			AACTCGCGGAGGGTGTCAGAG	0.602																																						uc003wff.2																			1	Substitution - Missense(1)		lung(1)	lung(5)|ovary(1)	6						c.(1492-1494)CTC>GTC		protein disulfide isomerase A4 precursor							175.0	157.0	163.0					7																	148702263		2203	4300	6503	SO:0001583	missense	9601				cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr7:148702263G>C	BC001928	CCDS5893.1	7q35	2009-11-20	2005-06-29		ENSG00000155660	ENSG00000155660	5.3.4.1	"""Protein disulfide isomerases"""	30167	protein-coding gene	gene with protein product			"""protein disulfide isomerase-associated 4"""			2549034, 2002068	Standard	NM_004911		Approved	ERP70, ERP72	uc003wff.2	P13667	OTTHUMG00000150248	ENST00000286091.4:c.1492C>G	7.37:g.148702263G>C	ENSP00000286091:p.Leu498Val						p.L498V	NM_004911	NP_004902	P13667	PDIA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00385)		9	1774	-	Melanoma(164;0.15)		498					A8K4K6|Q549T6	Missense_Mutation	SNP	ENST00000286091.4	37	c.1492C>G	CCDS5893.1	.	.	.	.	.	.	.	.	.	.	G	18.47	3.631723	0.67015	.	.	ENSG00000155660	ENST00000286091	T	0.19250	2.16	5.57	5.57	0.84162	Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.49201	0.1543	M	0.84326	2.69	0.80722	D	1	D	0.57571	0.98	P	0.61533	0.89	T	0.46176	-0.9210	10	0.40728	T	0.16	.	19.54	0.95270	0.0:0.0:1.0:0.0	.	498	P13667	PDIA4_HUMAN	V	498	ENSP00000286091:L498V	ENSP00000286091:L498V	L	-	1	0	PDIA4	148333196	1.000000	0.71417	0.873000	0.34254	0.295000	0.27426	7.661000	0.83786	2.618000	0.88619	0.655000	0.94253	CTC		PASS	0.602	PDIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317077.1	NM_004911		194	588	194	588	---	---	---	---
AGAP3	116988	broad.mit.edu	37	7	150815341	150815341	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr7:150815341G>T	ENST00000463381.1	+	6	563	c.67G>T	c.(67-69)Gcc>Tcc	p.A23S	AGAP3_ENST00000476375.1_3'UTR|AGAP3_ENST00000335367.3_Missense_Mutation_p.A431S|AGAP3_ENST00000479901.1_Missense_Mutation_p.A251S|AGAP3_ENST00000397238.2_Missense_Mutation_p.A251S|AGAP3_ENST00000473312.1_Missense_Mutation_p.A251S	NM_001281300.1	NP_001268229.1	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	215					cellular response to reactive oxygen species (GO:0034614)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)	p.A251S(2)		central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						CGACAGCAGAGCCCGCAAGCT	0.597																																						uc003wjg.1																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)|ovary(1)	3						c.(751-753)GCC>TCC		centaurin, gamma 3 isoform a							66.0	76.0	72.0					7																	150815341		2142	4266	6408	SO:0001583	missense	116988				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding	g.chr7:150815341G>T	AF413079	CCDS43681.1, CCDS55185.1, CCDS64802.1	7q36.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000133612	ENSG00000133612		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16923	protein-coding gene	gene with protein product			"""centaurin, gamma 3"""	CENTG3			Standard	NM_001042535		Approved		uc003wjg.1	Q96P47	OTTHUMG00000158724	ENST00000463381.1:c.67G>T	7.37:g.150815341G>T	ENSP00000418016:p.Ala23Ser					AGAP3_uc003wje.1_Missense_Mutation_p.A23S|AGAP3_uc003wjf.1_Missense_Mutation_p.A251S|AGAP3_uc010lpy.1_Missense_Mutation_p.A251S|AGAP3_uc003wjh.1_Missense_Mutation_p.A431S	p.A251S	NM_031946	NP_114152	Q96P47	AGAP3_HUMAN			6	754	+			215			Small GTPase-like.		B3KNZ8|E9PAL8|Q59EN0|Q96RK3	Missense_Mutation	SNP	ENST00000463381.1	37	c.751G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.93|16.93	3.258611|3.258611	0.59321|0.59321	.|.	.|.	ENSG00000133612|ENSG00000133612	ENST00000463381;ENST00000473312;ENST00000479901;ENST00000397238;ENST00000335355;ENST00000335367;ENST00000468796|ENST00000469901	T;T;T;T;T;T|.	0.25250|.	1.81;1.81;1.81;1.81;1.81;1.81|.	4.03|4.03	3.15|3.15	0.36227|0.36227	.|.	0.212853|.	0.39834|.	N|.	0.001242|.	T|T	0.71668|0.71668	0.3367|0.3367	M|M	0.79011|0.79011	2.435|2.435	0.58432|0.58432	D|D	0.999992|0.999992	P;P;D;P;D|.	0.71674|.	0.902;0.94;0.984;0.95;0.998|.	D;D;D;D;D|.	0.77004|.	0.93;0.918;0.919;0.93;0.989|.	T|T	0.71358|0.71358	-0.4617|-0.4617	10|5	0.72032|.	D|.	0.01|.	.|.	10.7448|10.7448	0.46175|0.46175	0.0929:0.0:0.9071:0.0|0.0929:0.0:0.9071:0.0	.|.	251;431;251;251;23|.	C9J975;E7ESL9;Q96P47-4;E9PAL8;B3KNZ8|.	.;.;.;.;.|.	S|D	23;251;251;251;215;431;16|186	ENSP00000418016:A23S;ENSP00000418921:A251S;ENSP00000418125:A251S;ENSP00000380413:A251S;ENSP00000335589:A431S;ENSP00000418159:A16S|.	ENSP00000334157:A215S|.	A|E	+|+	1|3	0|2	AGAP3|AGAP3	150446274|150446274	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.018000|0.018000	0.09664|0.09664	7.610000|7.610000	0.82949|0.82949	0.919000|0.919000	0.36945|0.36945	0.313000|0.313000	0.20887|0.20887	GCC|GAG		PASS	0.597	AGAP3-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000351909.2	NM_031946		104	287	104	287	---	---	---	---
SH2D4A	63898	broad.mit.edu	37	8	19218777	19218777	+	Missense_Mutation	SNP	A	A	C			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr8:19218777A>C	ENST00000265807.3	+	6	1069	c.658A>C	c.(658-660)Aag>Cag	p.K220Q	SH2D4A_ENST00000519207.1_Missense_Mutation_p.K220Q|SH2D4A_ENST00000518040.1_Missense_Mutation_p.K175Q	NM_001174160.1|NM_022071.3	NP_001167631.1|NP_071354.2	Q9H788	SH24A_HUMAN	SH2 domain containing 4A	220					negative regulation of phosphatase activity (GO:0010923)	cytoplasm (GO:0005737)	phosphatase binding (GO:0019902)	p.K220Q(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1)	16				Colorectal(111;0.0732)		AGAGAGAACGAAGCAGATTTG	0.368																																						uc003wzb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(658-660)AAG>CAG		SH2 domain containing 4A							69.0	69.0	69.0					8																	19218777		2203	4300	6503	SO:0001583	missense	63898					cytoplasm|nucleus	protein binding	g.chr8:19218777A>C	AY190323	CCDS6009.1, CCDS55206.1	8p21	2013-02-14			ENSG00000104611	ENSG00000104611		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""SH2 domain containing"""	26102	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 38"""	614968					Standard	NM_022071		Approved	FLJ20967, SH2A, PPP1R38	uc003wzc.3	Q9H788	OTTHUMG00000097005	ENST00000265807.3:c.658A>C	8.37:g.19218777A>C	ENSP00000265807:p.Lys220Gln					SH2D4A_uc011kym.1_Missense_Mutation_p.K175Q|SH2D4A_uc003wzc.2_Missense_Mutation_p.K220Q	p.K220Q	NM_022071	NP_071354	Q9H788	SH24A_HUMAN		Colorectal(111;0.0732)	6	994	+			220					B4DDR1|Q5XKC1|Q6NXE9|Q86YM2|Q96C88|Q9H7F7	Missense_Mutation	SNP	ENST00000265807.3	37	c.658A>C	CCDS6009.1	.	.	.	.	.	.	.	.	.	.	A	18.17	3.563626	0.65651	.	.	ENSG00000104611	ENST00000265807;ENST00000518040;ENST00000519207;ENST00000523736	T;T;T;T	0.15718	2.4;2.4;2.4;2.4	5.61	5.61	0.85477	.	0.363557	0.29205	N	0.012829	T	0.18509	0.0444	L	0.54323	1.7	0.33502	D	0.590026	B;B	0.24426	0.103;0.027	B;B	0.20577	0.03;0.02	T	0.13072	-1.0523	10	0.46703	T	0.11	.	12.1915	0.54275	1.0:0.0:0.0:0.0	.	175;220	B4DDR1;Q9H788	.;SH24A_HUMAN	Q	220;175;220;179	ENSP00000265807:K220Q;ENSP00000429482:K175Q;ENSP00000428684:K220Q;ENSP00000428048:K179Q	ENSP00000265807:K220Q	K	+	1	0	SH2D4A	19263057	1.000000	0.71417	1.000000	0.80357	0.691000	0.40173	4.210000	0.58500	2.133000	0.65898	0.533000	0.62120	AAG		PASS	0.368	SH2D4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214094.1	NM_022071		22	35	22	35	---	---	---	---
ENTPD4	9583	broad.mit.edu	37	8	23305380	23305380	+	Silent	SNP	G	G	A			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr8:23305380G>A	ENST00000358689.4	-	4	460	c.225C>T	c.(223-225)acC>acT	p.T75T	ENTPD4_ENST00000356206.6_Silent_p.T75T|ENTPD4_ENST00000417069.2_Silent_p.T75T	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	75					UDP catabolic process (GO:0006256)	cytoplasmic vesicle (GO:0031410)|integral component of Golgi membrane (GO:0030173)|intracellular membrane-bounded organelle (GO:0043231)	uridine-diphosphatase activity (GO:0045134)	p.T75T(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		CTTCAATGTCGGTAACTCGTG	0.433																																						uc003xdl.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|kidney(1)	2						c.(223-225)ACC>ACT		ectonucleoside triphosphate diphosphohydrolase 4							198.0	150.0	166.0					8																	23305380		2203	4300	6503	SO:0001819	synonymous_variant	9583				UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity	g.chr8:23305380G>A	AJ131358	CCDS6041.1, CCDS47827.1	8p21.3	2014-05-16	2004-09-22	2004-09-22	ENSG00000197217	ENSG00000197217			14573	protein-coding gene	gene with protein product		607577	"""lysosomal apyrase-like 1"""	LYSAL1		10393803, 9205841	Standard	NM_001128930		Approved	LALP70, LAP70, KIAA0392, NTPDase-4, UDPase	uc003xdl.3	Q9Y227	OTTHUMG00000097852	ENST00000358689.4:c.225C>T	8.37:g.23305380G>A						ENTPD4_uc011kzu.1_Silent_p.T75T|ENTPD4_uc003xdm.2_Silent_p.T75T|ENTPD4_uc011kzv.1_Silent_p.T75T|ENTPD4_uc011kzw.1_Silent_p.T41T	p.T75T	NM_004901	NP_004892	Q9Y227	ENTP4_HUMAN		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)	4	389	-		Prostate(55;0.114)	75			Lumenal (Potential).		D3DSS3|O15092	Silent	SNP	ENST00000358689.4	37	c.225C>T	CCDS6041.1																																																																																				PASS	0.433	ENTPD4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215142.1	NM_004901		6	225	6	225	---	---	---	---
ESCO2	157570	broad.mit.edu	37	8	27657189	27657189	+	Silent	SNP	G	G	T			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr8:27657189G>T	ENST00000305188.8	+	10	1867	c.1629G>T	c.(1627-1629)ctG>ctT	p.L543L	ESCO2_ENST00000397418.2_Silent_p.L191L	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 2	543					chromosome segregation (GO:0007059)|double-strand break repair (GO:0006302)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|protein localization to chromatin (GO:0071168)|regulation of DNA replication (GO:0006275)	chromatin (GO:0000785)|chromocenter (GO:0010369)|Golgi apparatus (GO:0005794)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|XY body (GO:0001741)	lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|metal ion binding (GO:0046872)	p.L543L(1)		autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		TTTTCAGACTGAAGAGAAGAA	0.448									SC Phocomelia syndrome																													uc003xgg.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(1627-1629)CTG>CTT		establishment of cohesion 1 homolog 2							156.0	149.0	152.0					8																	27657189		2203	4300	6503	SO:0001819	synonymous_variant	157570	SC_Phocomelia_syndrome	Familial Cancer Database	SC-Pseudothalidomide s., incl.: Roberts s.	cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding	g.chr8:27657189G>T	AF306679	CCDS34872.1	8p21.1	2013-05-02	2013-05-02		ENSG00000171320	ENSG00000171320			27230	protein-coding gene	gene with protein product		609353	"""Roberts syndrome"", ""establishment of cohesion 1 homolog 2 (S. cerevisiae)"""	RBS		15958495, 16775838, 15821733, 16380922	Standard	XR_247122		Approved	EFO2	uc003xgg.3	Q56NI9	OTTHUMG00000163901	ENST00000305188.8:c.1629G>T	8.37:g.27657189G>T						ESCO2_uc010luy.1_RNA	p.L543L	NM_001017420	NP_001017420	Q56NI9	ESCO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)	10	1712	+		Ovarian(32;0.000953)	543					B3KW59|Q49AP4	Silent	SNP	ENST00000305188.8	37	c.1629G>T	CCDS34872.1																																																																																				PASS	0.448	ESCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376276.1	NM_001017420		5	332	5	332	---	---	---	---
NRG1	3084	broad.mit.edu	37	8	32616829	32616829	+	Silent	SNP	C	C	T	rs79631951		TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr8:32616829C>T	ENST00000405005.3	+	10	936	c.936C>T	c.(934-936)taC>taT	p.Y312Y	NRG1_ENST00000521670.1_Silent_p.Y312Y|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000539990.1_Silent_p.Y155Y|NRG1_ENST00000338921.4_Silent_p.Y320Y|NRG1_ENST00000519301.1_Silent_p.Y262Y|NRG1_ENST00000356819.4_Silent_p.Y317Y|NRG1_ENST00000523079.1_Silent_p.Y309Y|NRG1_ENST00000287845.5_Silent_p.Y283Y|NRG1_ENST00000287842.3_Silent_p.Y309Y			Q02297	NRG1_HUMAN	neuregulin 1	312					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)	p.Y317Y(1)|p.Y312Y(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		TCCAGCAATACGTATCTAAAA	0.383																																						uc003xiv.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(934-936)TAC>TAT		neuregulin 1 isoform HRG-alpha							167.0	144.0	152.0					8																	32616829		2203	4300	6503	SO:0001819	synonymous_variant	3084				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr8:32616829C>T	L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168		"""Immunoglobulin superfamily / I-set domain containing"""	7997	protein-coding gene	gene with protein product		142445	"""NRG1 intronic transcript 2 (non-protein coding)"""	HGL, NRG1-IT2		1350381, 8095334	Standard	NM_013962		Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000405005.3:c.936C>T	8.37:g.32616829C>T						NRG1_uc011lbf.1_Silent_p.Y309Y|NRG1_uc010lvo.2_Silent_p.Y309Y|NRG1_uc003xiu.2_Silent_p.Y317Y|NRG1_uc003xiw.2_Silent_p.Y309Y|NRG1_uc003xit.2_Silent_p.Y312Y|NRG1_uc010lvr.2_Silent_p.Y54Y|NRG1_uc010lvs.2_Silent_p.Y54Y|NRG1_uc010lvp.2_Silent_p.Y266Y|NRG1_uc010lvq.2_Silent_p.Y249Y|NRG1_uc011lbg.1_Silent_p.Y158Y|NRG1_uc011lbh.1_Silent_p.Y155Y|NRG1_uc003xja.2_Silent_p.Y123Y	p.Y312Y	NM_013964	NP_039258	Q02297	NRG1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)	10	1453	+		Breast(100;0.203)	312			Cytoplasmic (Potential).		A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	Silent	SNP	ENST00000405005.3	37	c.936C>T	CCDS6085.1																																																																																				PASS	0.383	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472504.1			34	116	34	116	---	---	---	---
LETM2	137994	broad.mit.edu	37	8	38257893	38257893	+	Missense_Mutation	SNP	A	A	T			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr8:38257893A>T	ENST00000379957.4	+	5	876	c.749A>T	c.(748-750)gAt>gTt	p.D250V	LETM2_ENST00000527710.1_Missense_Mutation_p.D36V|LETM2_ENST00000523983.2_Missense_Mutation_p.D203V|LETM2_ENST00000524874.1_Missense_Mutation_p.D202V|LETM2_ENST00000297720.5_Missense_Mutation_p.D155V|RP11-350N15.3_ENST00000533301.1_RNA	NM_001199659.1	NP_001186588.1	Q2VYF4	LETM2_HUMAN	leucine zipper-EF-hand containing transmembrane protein 2	250	LETM1.					integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)		p.D155V(1)|p.D250V(1)		NS(1)|large_intestine(1)|lung(3)|prostate(2)	7	all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202)	all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175)	Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114)			AAGATGGGCGATGCCTCTACA	0.438																																						uc003xlm.1																			2	Substitution - Missense(2)		lung(2)		0						c.(607-609)GAT>GTT		leucine zipper-EF-hand containing transmembrane							130.0	105.0	113.0					8																	38257893		2203	4300	6503	SO:0001583	missense	137994					integral to membrane|mitochondrial inner membrane		g.chr8:38257893A>T	AK058138	CCDS6106.1, CCDS56534.1, CCDS69466.1, CCDS75731.1	8p12	2013-01-11						"""EF-hand domain containing"""	14648	protein-coding gene	gene with protein product						11549311	Standard	NM_001286821		Approved	FLJ25409	uc003xlm.2	Q2VYF4		ENST00000379957.4:c.749A>T	8.37:g.38257893A>T	ENSP00000369291:p.Asp250Val					LETM2_uc011lbn.1_Missense_Mutation_p.D47V|LETM2_uc003xll.1_Missense_Mutation_p.D155V|LETM2_uc003xln.1_Missense_Mutation_p.D47V|LETM2_uc003xlo.1_Missense_Mutation_p.D47V	p.D203V	NM_144652	NP_653253	Q2VYF4	LETM2_HUMAN	Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114)		5	779	+	all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202)	all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175)	250			LETM1.|Mitochondrial matrix (Potential).		A6NMG3|Q8NCR2|Q96LL1	Missense_Mutation	SNP	ENST00000379957.4	37	c.608A>T		.	.	.	.	.	.	.	.	.	.	A	13.60	2.286915	0.40494	.	.	ENSG00000165046	ENST00000297720;ENST00000524874;ENST00000379957;ENST00000523983;ENST00000527710	T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94	5.77	5.77	0.91146	LETM1-like (1);	0.320619	0.36815	N	0.002383	T	0.54743	0.1877	L	0.46670	1.46	0.80722	D	1	B;B;D	0.69078	0.202;0.205;0.997	B;B;D	0.68621	0.102;0.145;0.959	T	0.53809	-0.8386	10	0.45353	T	0.12	-3.8589	12.0039	0.53248	0.8558:0.1442:0.0:0.0	.	47;250;202	B7Z7T4;Q2VYF4;E9PMA4	.;LETM2_HUMAN;.	V	155;202;250;203;36	ENSP00000297720:D155V;ENSP00000431211:D202V;ENSP00000369291:D250V;ENSP00000428765:D203V;ENSP00000434867:D36V	ENSP00000297720:D155V	D	+	2	0	LETM2	38377050	1.000000	0.71417	0.207000	0.23584	0.012000	0.07955	8.028000	0.88798	2.208000	0.71279	0.454000	0.30748	GAT		PASS	0.438	LETM2-013	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000381816.1	NM_144652		95	316	95	316	---	---	---	---
MCM4	4173	broad.mit.edu	37	8	48883428	48883428	+	Missense_Mutation	SNP	A	A	T			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr8:48883428A>T	ENST00000262105.2	+	11	2001	c.1792A>T	c.(1792-1794)Att>Ttt	p.I598F	MCM4_ENST00000523944.1_Missense_Mutation_p.I598F	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	598	MCM.				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)	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.I598F(1)		biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				GACTCTGTCCATTGCAAAGGT	0.473																																						uc003xqk.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(1792-1794)ATT>TTT		minichromosome maintenance complex component 4							75.0	67.0	70.0					8																	48883428		2203	4300	6503	SO:0001583	missense	4173				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|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding	g.chr8:48883428A>T		CCDS6143.1	8q12-q13	2008-02-05	2007-04-04		ENSG00000104738	ENSG00000104738			6947	protein-coding gene	gene with protein product		602638	"""MCM4 minichromosome maintenance deficient 4 (S. cerevisiae)"""	CDC21		7601140	Standard	NM_005914		Approved	CDC54, hCdc21, P1-Cdc21, MGC33310	uc003xql.2	P33991	OTTHUMG00000164205	ENST00000262105.2:c.1792A>T	8.37:g.48883428A>T	ENSP00000262105:p.Ile598Phe					MCM4_uc003xql.1_Missense_Mutation_p.I598F|MCM4_uc011ldi.1_Missense_Mutation_p.I585F	p.I598F	NM_182746	NP_877423	P33991	MCM4_HUMAN			12	1887	+		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)	598			MCM.		Q8NEH1|Q99658	Missense_Mutation	SNP	ENST00000262105.2	37	c.1792A>T	CCDS6143.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.251377	0.80135	.	.	ENSG00000104738	ENST00000523944;ENST00000262105;ENST00000396826;ENST00000429229	T;T	0.13420	2.59;2.59	5.73	4.56	0.56223	ATPase, AAA+ type, core (1);	0.086865	0.85682	D	0.000000	T	0.50137	0.1598	H	0.97103	3.94	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.76071	0.987;0.987	T	0.65092	-0.6252	10	0.87932	D	0	-20.1493	12.0496	0.53500	0.9324:0.0:0.0676:0.0	.	598;598	B3KMX0;P33991	.;MCM4_HUMAN	F	598;598;585;558	ENSP00000430194:I598F;ENSP00000262105:I598F	ENSP00000262105:I598F	I	+	1	0	MCM4	49045981	1.000000	0.71417	0.867000	0.34043	0.748000	0.42578	7.459000	0.80802	1.092000	0.41356	0.533000	0.62120	ATT		PASS	0.473	MCM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377791.1	NM_005914		64	146	64	146	---	---	---	---
ST18	9705	broad.mit.edu	37	8	53084631	53084631	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr8:53084631C>G	ENST00000276480.7	-	10	1473	c.790G>C	c.(790-792)Gca>Cca	p.A264P		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	264					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.A264P(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				AGGGGTTCTGCGAGAGCATTC	0.488																																						uc003xqz.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(790-792)GCA>CCA		suppression of tumorigenicity 18							95.0	99.0	98.0					8																	53084631		2203	4300	6503	SO:0001583	missense	9705					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:53084631C>G	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.790G>C	8.37:g.53084631C>G	ENSP00000276480:p.Ala264Pro					ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Missense_Mutation_p.A229P|ST18_uc011lds.1_Missense_Mutation_p.A169P|ST18_uc003xra.2_Missense_Mutation_p.A264P|ST18_uc003xrb.2_Missense_Mutation_p.A264P	p.A264P	NM_014682	NP_055497	O60284	ST18_HUMAN			5	946	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)	264					Q17RY1	Missense_Mutation	SNP	ENST00000276480.7	37	c.790G>C	CCDS6149.1	.	.	.	.	.	.	.	.	.	.	C	3.680	-0.065634	0.07273	.	.	ENSG00000147488	ENST00000276480;ENST00000517580	T;T	0.45668	0.89;0.89	5.72	-10.6	0.00265	.	2.268610	0.01088	N	0.005136	T	0.17238	0.0414	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.08554	-1.0716	10	0.30078	T	0.28	0.939	4.3133	0.10981	0.1456:0.0854:0.2791:0.49	.	264	O60284	ST18_HUMAN	P	264	ENSP00000276480:A264P;ENSP00000428521:A264P	ENSP00000276480:A264P	A	-	1	0	ST18	53247184	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.946000	0.01536	-1.835000	0.01191	0.655000	0.94253	GCA		PASS	0.488	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1			76	238	76	238	---	---	---	---
XKR4	114786	broad.mit.edu	37	8	56270299	56270299	+	Missense_Mutation	SNP	A	A	G			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr8:56270299A>G	ENST00000327381.6	+	2	968	c.868A>G	c.(868-870)Agg>Ggg	p.R290G		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	290						integral component of membrane (GO:0016021)		p.R290G(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			TGACAGATGGAGGTTTTACTG	0.433																																						uc003xsf.2																			1	Substitution - Missense(1)		lung(1)	pancreas(2)	2						c.(868-870)AGG>GGG		XK, Kell blood group complex subunit-related							188.0	172.0	178.0					8																	56270299		2203	4300	6503	SO:0001583	missense	114786					integral to membrane		g.chr8:56270299A>G	AY534241	CCDS34893.1	8q12.1	2006-01-12	2006-01-12		ENSG00000206579	ENSG00000206579			29394	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 4"""				Standard	NM_052898		Approved	KIAA1889	uc003xsf.3	Q5GH76	OTTHUMG00000164288	ENST00000327381.6:c.868A>G	8.37:g.56270299A>G	ENSP00000328326:p.Arg290Gly						p.R290G	NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	Epithelial(17;0.000117)|all cancers(17;0.000836)		2	900	+			290					Q96PZ8	Missense_Mutation	SNP	ENST00000327381.6	37	c.868A>G	CCDS34893.1	.	.	.	.	.	.	.	.	.	.	A	17.08	3.298876	0.60195	.	.	ENSG00000206579	ENST00000327381;ENST00000543752	D	0.83837	-1.77	5.96	-3.61	0.04556	.	0.107189	0.64402	D	0.000010	D	0.86527	0.5954	L	0.55481	1.735	0.40094	D	0.976286	D	0.61080	0.989	P	0.62560	0.904	D	0.86296	0.1677	10	0.48119	T	0.1	-29.1337	20.3948	0.98983	0.2401:0.7599:0.0:0.0	.	290	Q5GH76	XKR4_HUMAN	G	290	ENSP00000328326:R290G	ENSP00000328326:R290G	R	+	1	2	XKR4	56432853	1.000000	0.71417	0.998000	0.56505	0.906000	0.53458	1.861000	0.39438	-0.110000	0.12022	-0.323000	0.08544	AGG		PASS	0.433	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378129.2	NM_052898		60	170	60	170	---	---	---	---
PREX2	80243	broad.mit.edu	37	8	68934349	68934349	+	Missense_Mutation	SNP	A	A	G			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr8:68934349A>G	ENST00000288368.4	+	4	692	c.415A>G	c.(415-417)Ata>Gta	p.I139V	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	139	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)	p.I139V(2)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						ACTCAACAAAATAAGAACAAT	0.328																																						uc003xxv.1																			2	Substitution - Missense(2)		lung(2)	skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						c.(415-417)ATA>GTA		DEP domain containing 2 isoform a							122.0	116.0	118.0					8																	68934349		2202	4300	6502	SO:0001583	missense	80243				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	g.chr8:68934349A>G	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.415A>G	8.37:g.68934349A>G	ENSP00000288368:p.Ile139Val					PREX2_uc003xxu.1_Missense_Mutation_p.I139V|PREX2_uc011lez.1_Missense_Mutation_p.I74V	p.I139V	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN			4	442	+			139			DH.		B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	ENST00000288368.4	37	c.415A>G	CCDS6201.1	.	.	.	.	.	.	.	.	.	.	A	19.18	3.777283	0.70107	.	.	ENSG00000046889	ENST00000288368;ENST00000396539;ENST00000354677	T	0.68181	-0.31	6.04	6.04	0.98038	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.66446	0.2790	L	0.52573	1.65	0.80722	D	1	P;B;B	0.40083	0.702;0.117;0.095	B;B;B	0.43478	0.421;0.085;0.051	T	0.63404	-0.6645	10	0.27082	T	0.32	.	16.5885	0.84745	1.0:0.0:0.0:0.0	.	139;139;139	Q70Z35-2;Q70Z35;Q70Z35-3	.;PREX2_HUMAN;.	V	139	ENSP00000288368:I139V	ENSP00000288368:I139V	I	+	1	0	PREX2	69096903	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.140000	0.77322	2.317000	0.78254	0.460000	0.39030	ATA		PASS	0.328	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170		20	65	20	65	---	---	---	---
CA3	761	broad.mit.edu	37	8	86354334	86354334	+	Nonsense_Mutation	SNP	C	C	T	rs377151699		TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr8:86354334C>T	ENST00000285381.2	+	3	348	c.265C>T	c.(265-267)Cga>Tga	p.R89*	RP11-317J10.2_ENST00000517697.1_RNA|RP11-317J10.2_ENST00000521761.1_RNA	NM_005181.3	NP_005172.1	P07451	CAH3_HUMAN	carbonic anhydrase III, muscle specific	89					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|response to ethanol (GO:0045471)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	carbonate dehydratase activity (GO:0004089)|nickel cation binding (GO:0016151)|zinc ion binding (GO:0008270)	p.R89*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23					Acetazolamide(DB00819)|Zonisamide(DB00909)	TGGACCCTACCGACTTCGCCA	0.507																																						uc003ydj.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(265-267)CGA>TGA		carbonic anhydrase III		C	stop/ARG	0,4406		0,0,2203	101.0	96.0	98.0		265	4.2	1.0	8		98	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	CA3	NM_005181.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		89/261	86354334	1,13005	2203	4300	6503	SO:0001587	stop_gained	761				one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding	g.chr8:86354334C>T	AJ006473	CCDS6238.1	8q21.2	2012-10-02					4.2.1.1	"""Carbonic anhydrases"""	1374	protein-coding gene	gene with protein product		114750				6221502	Standard	NM_005181		Approved	Car3, CAIII	uc003ydj.3	P07451		ENST00000285381.2:c.265C>T	8.37:g.86354334C>T	ENSP00000285381:p.Arg89*					CA3_uc011lfv.1_RNA	p.R89*	NM_005181	NP_005172	P07451	CAH3_HUMAN			3	348	+			89					B2R867|B3KUC8|O60842	Nonsense_Mutation	SNP	ENST00000285381.2	37	c.265C>T	CCDS6238.1	.	.	.	.	.	.	.	.	.	.	C	38	7.275097	0.98179	0.0	1.16E-4	ENSG00000164879	ENST00000520921;ENST00000285381;ENST00000426378	.	.	.	6.17	4.25	0.50352	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.1527	12.679	0.56912	0.4707:0.5293:0.0:0.0	.	.	.	.	X	12;89;73	.	ENSP00000285381:R89X	R	+	1	2	CA3	86541586	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.108000	0.31123	1.584000	0.49913	0.655000	0.94253	CGA		PASS	0.507	CA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381090.1	NM_005181		68	152	68	152	---	---	---	---
DCSTAMP	81501	broad.mit.edu	37	8	105361645	105361645	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr8:105361645G>C	ENST00000297581.2	+	2	914	c.865G>C	c.(865-867)Gaa>Caa	p.E289Q	DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Intron	NM_030788.3	NP_110415.1	Q9H295	DCSTP_HUMAN	dendrocyte expressed seven transmembrane protein	289					cellular response to interleukin-4 (GO:0071353)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to tumor necrosis factor (GO:0071356)|membrane fusion (GO:0061025)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cell growth (GO:0030308)|osteoclast differentiation (GO:0030316)|osteoclast fusion (GO:0072675)|positive regulation of bone resorption (GO:0045780)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of monocyte differentiation (GO:0045657)	cell surface (GO:0009986)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)		p.E289Q(1)									GACTCCTAAAGAAAGGAAAAA	0.483																																						uc003ylx.1																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|large_intestine(1)|ovary(1)	4						c.(865-867)GAA>CAA		dendritic cell-specific transmembrane protein							103.0	111.0	108.0					8																	105361645		2203	4300	6503	SO:0001583	missense	81501				osteoclast differentiation	cell surface|integral to membrane|plasma membrane		g.chr8:105361645G>C	AF305068	CCDS6301.1, CCDS59111.1	8q22.3	2012-08-10	2012-03-27	2012-03-27	ENSG00000164935	ENSG00000164935			18549	protein-coding gene	gene with protein product	"""Dendritic cells (DC)-specific transmembrane protein"", ""IL-Four INDuced"""	605933	"""transmembrane 7 superfamily member 4"""	TM7SF4		11169400, 11345591	Standard	NM_030788		Approved	DC-STAMP, FIND	uc003ylx.2	Q9H295	OTTHUMG00000164890	ENST00000297581.2:c.865G>C	8.37:g.105361645G>C	ENSP00000297581:p.Glu289Gln						p.E289Q	NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)		2	914	+			289					B7ZVW2|E7ESG0|Q2M2D5	Missense_Mutation	SNP	ENST00000297581.2	37	c.865G>C	CCDS6301.1	.	.	.	.	.	.	.	.	.	.	G	16.24	3.068472	0.55539	.	.	ENSG00000164935	ENST00000297581	T	0.61274	0.12	5.5	5.5	0.81552	Dendritic cell-specific transmembrane protein-like (1);	0.102061	0.64402	D	0.000003	T	0.64918	0.2642	M	0.64404	1.975	0.80722	D	1	P	0.47604	0.898	P	0.49192	0.602	T	0.64253	-0.6451	9	.	.	.	-8.8838	17.5762	0.87950	0.0:0.0:1.0:0.0	.	289	Q9H295	TM7S4_HUMAN	Q	289	ENSP00000297581:E289Q	.	E	+	1	0	TM7SF4	105430821	1.000000	0.71417	0.290000	0.24890	0.651000	0.38670	6.215000	0.72206	2.590000	0.87494	0.555000	0.69702	GAA		PASS	0.483	DCSTAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380810.1	NM_030788		17	433	17	433	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113318395	113318395	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr8:113318395G>T	ENST00000297405.5	-	51	8156	c.7912C>A	c.(7912-7914)Cca>Aca	p.P2638T	CSMD3_ENST00000455883.2_Missense_Mutation_p.P2534T|CSMD3_ENST00000343508.3_Missense_Mutation_p.P2598T|CSMD3_ENST00000352409.3_Missense_Mutation_p.P2568T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2638	Sushi 15. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P2638T(1)|p.P2598T(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						CCATTTGTTGGAGCTTTAGGA	0.348										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.(7912-7914)CCA>ACA		CUB and Sushi multiple domains 3 isoform 1							97.0	90.0	92.0					8																	113318395		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113318395G>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.7912C>A	8.37:g.113318395G>T	ENSP00000297405:p.Pro2638Thr	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.P1840T|CSMD3_uc003ynt.2_Missense_Mutation_p.P2598T|CSMD3_uc011lhx.1_Missense_Mutation_p.P2534T	p.P2638T	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			51	8071	-			2638			Extracellular (Potential).|Sushi 15.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.7912C>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.734869	0.89482	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12;-0.12	5.53	5.53	0.82687	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000002	D	0.82728	0.5100	M	0.89534	3.04	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	T	0.81088	-0.1091	10	0.22109	T	0.4	.	19.4468	0.94851	0.0:0.0:1.0:0.0	.	2534;2638;2598	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	T	2598;2638;1908;2534;2568	ENSP00000345799:P2598T;ENSP00000297405:P2638T;ENSP00000341558:P1908T;ENSP00000412263:P2534T;ENSP00000343124:P2568T	ENSP00000297405:P2638T	P	-	1	0	CSMD3	113387571	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.835000	0.99442	2.591000	0.87537	0.557000	0.71058	CCA		PASS	0.348	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		54	111	54	111	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113649179	113649179	+	Missense_Mutation	SNP	G	G	C	rs201515007		TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr8:113649179G>C	ENST00000297405.5	-	22	3826	c.3582C>G	c.(3580-3582)atC>atG	p.I1194M	CSMD3_ENST00000455883.2_Missense_Mutation_p.I1090M|CSMD3_ENST00000343508.3_Missense_Mutation_p.I1154M|CSMD3_ENST00000352409.3_Missense_Mutation_p.I1194M	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1194	Sushi 6. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.I1154I(1)|p.I1194M(1)|p.I1154M(1)|p.I1194I(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						AGTTGAACCCGATTCGACTAC	0.468										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2																			4	Substitution - Missense(2)|Substitution - coding silent(2)		lung(2)|endometrium(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.(3580-3582)ATC>ATG		CUB and Sushi multiple domains 3 isoform 1							207.0	176.0	186.0					8																	113649179		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113649179G>C	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.3582C>G	8.37:g.113649179G>C	ENSP00000297405:p.Ile1194Met	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.I466M|CSMD3_uc003ynt.2_Missense_Mutation_p.I1154M|CSMD3_uc011lhx.1_Missense_Mutation_p.I1090M	p.I1194M	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			22	3741	-			1194			Sushi 6.|Extracellular (Potential).		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.3582C>G	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	13.43	2.236213	0.39498	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12;-0.12	5.56	0.059	0.14330	Complement control module (2);Sushi/SCR/CCP (3);	0.431044	0.22183	N	0.063475	T	0.62502	0.2433	M	0.80616	2.505	0.27864	N	0.940301	P;P;B	0.45569	0.861;0.64;0.029	P;P;B	0.48304	0.573;0.461;0.108	T	0.54603	-0.8269	10	0.33141	T	0.24	.	4.7352	0.12984	0.5421:0.0:0.2714:0.1865	.	1090;1194;1154	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	M	1154;1194;534;1090;1194	ENSP00000345799:I1154M;ENSP00000297405:I1194M;ENSP00000341558:I534M;ENSP00000412263:I1090M;ENSP00000343124:I1194M	ENSP00000297405:I1194M	I	-	3	3	CSMD3	113718355	0.323000	0.24643	1.000000	0.80357	0.826000	0.46750	-0.205000	0.09411	0.393000	0.25203	-0.247000	0.11927	ATC		PASS	0.468	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		90	210	90	210	---	---	---	---
TBC1D31	93594	broad.mit.edu	37	8	124157029	124157029	+	Missense_Mutation	SNP	A	A	G			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr8:124157029A>G	ENST00000287380.1	+	20	2998	c.2908A>G	c.(2908-2910)Aga>Gga	p.R970G	TBC1D31_ENST00000521676.1_Missense_Mutation_p.R847G|TBC1D31_ENST00000309336.3_Missense_Mutation_p.R905G|TBC1D31_ENST00000522420.1_Missense_Mutation_p.R865G|TBC1D31_ENST00000327098.5_Missense_Mutation_p.R874G|TBC1D31_ENST00000518805.1_Missense_Mutation_p.R524G|TBC1D31_ENST00000378080.2_3'UTR	NM_145647.3	NP_663622.2	Q96DN5	TBC31_HUMAN	TBC1 domain family, member 31	970						centrosome (GO:0005813)	Rab GTPase activator activity (GO:0005097)	p.R970G(1)									AGATGCGTCTAGAAAGTGGTT	0.388																																						uc003ypp.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(2908-2910)AGA>GGA		WD repeat domain 67 isoform 1							77.0	79.0	78.0					8																	124157029		2203	4300	6503	SO:0001583	missense	93594					centrosome	Rab GTPase activator activity	g.chr8:124157029A>G	AK094612	CCDS6338.1, CCDS47916.1	8q24.13	2013-07-10	2013-07-10	2013-07-10	ENSG00000156787	ENSG00000156787		"""WD repeat domain containing"""	30888	protein-coding gene	gene with protein product			"""WD repeat domain 67"""	WDR67		12477932	Standard	NM_001145088		Approved	MGC21654, Gm85	uc003ypp.2	Q96DN5	OTTHUMG00000165081	ENST00000287380.1:c.2908A>G	8.37:g.124157029A>G	ENSP00000287380:p.Arg970Gly					WDR67_uc011lig.1_Missense_Mutation_p.R874G|WDR67_uc011lih.1_Missense_Mutation_p.R860G|WDR67_uc003ypq.1_RNA|WDR67_uc003yps.1_Missense_Mutation_p.R604G|WDR67_uc003ypt.1_Missense_Mutation_p.R362G|WDR67_uc003ypu.1_Missense_Mutation_p.R362G	p.R970G	NM_145647	NP_663622	Q96DN5	WDR67_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		20	2998	+	Lung NSC(37;7e-10)|Ovarian(258;0.0205)		970					B7ZL19|Q2M2J9|Q3MIR6|Q8TBP9	Missense_Mutation	SNP	ENST00000287380.1	37	c.2908A>G	CCDS6338.1	.	.	.	.	.	.	.	.	.	.	A	11.33	1.606175	0.28623	.	.	ENSG00000156787	ENST00000287380;ENST00000309336;ENST00000327098;ENST00000522420;ENST00000521676;ENST00000518805	D;T;T;D;D;D	0.85484	-1.99;-1.39;-1.21;-1.99;-1.99;-1.99	5.13	1.16	0.20824	.	0.162863	0.47093	D	0.000244	D	0.86485	0.5944	L	0.32530	0.975	0.80722	D	1	D;D;D;D	0.76494	0.998;0.999;0.999;0.999	D;D;D;P	0.83275	0.987;0.996;0.994;0.879	D	0.84357	0.0536	10	0.54805	T	0.06	-23.6826	11.7985	0.52114	0.5729:0.4271:0.0:0.0	.	874;905;865;970	B7ZL19;Q96DN5-2;E7ERK7;Q96DN5	.;.;.;WDR67_HUMAN	G	970;905;874;865;847;524	ENSP00000287380:R970G;ENSP00000308358:R905G;ENSP00000312701:R874G;ENSP00000429334:R865G;ENSP00000430628:R847G;ENSP00000429494:R524G	ENSP00000287380:R970G	R	+	1	2	WDR67	124226210	0.928000	0.31464	0.220000	0.23810	0.078000	0.17371	1.885000	0.39678	0.094000	0.17404	-0.438000	0.05819	AGA		PASS	0.388	TBC1D31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381721.1	NM_145647		62	129	62	129	---	---	---	---
ATAD2	29028	broad.mit.edu	37	8	124369834	124369834	+	Missense_Mutation	SNP	A	A	T			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr8:124369834A>T	ENST00000287394.5	-	12	1632	c.1525T>A	c.(1525-1527)Tct>Act	p.S509T	ATAD2_ENST00000534257.1_5'Flank|ATAD2_ENST00000521903.1_5'UTR	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	509					ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.S509T(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TGTCTTTCAGATTCTCCTACC	0.393																																						uc003yqh.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1525-1527)TCT>ACT		ATPase family, AAA domain containing 2							115.0	105.0	108.0					8																	124369834		2203	4300	6503	SO:0001583	missense	29028				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity	g.chr8:124369834A>T	BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"""ATPases / AAA-type"""	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.1525T>A	8.37:g.124369834A>T	ENSP00000287394:p.Ser509Thr					ATAD2_uc011lii.1_Missense_Mutation_p.S300T|ATAD2_uc003yqi.3_RNA|ATAD2_uc003yqj.2_Missense_Mutation_p.S509T	p.S509T	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		12	1633	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		509					Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Missense_Mutation	SNP	ENST00000287394.5	37	c.1525T>A	CCDS6343.1	.	.	.	.	.	.	.	.	.	.	A	29.3	4.998405	0.93227	.	.	ENSG00000156802	ENST00000287394	D	0.93488	-3.23	5.51	5.51	0.81932	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.95143	0.8426	L	0.43598	1.365	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.99;0.997	D	0.95692	0.8741	10	0.72032	D	0.01	-20.7892	15.9209	0.79570	1.0:0.0:0.0:0.0	.	339;509	Q6PL18-2;Q6PL18	.;ATAD2_HUMAN	T	509	ENSP00000287394:S509T	ENSP00000287394:S509T	S	-	1	0	ATAD2	124439015	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.355000	0.79434	2.210000	0.71456	0.533000	0.62120	TCT		PASS	0.393	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381766.2	NM_014109		69	129	69	129	---	---	---	---
FAM135B	51059	broad.mit.edu	37	8	139263206	139263206	+	Silent	SNP	C	C	A			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr8:139263206C>A	ENST00000395297.1	-	6	590	c.420G>T	c.(418-420)ctG>ctT	p.L140L		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	140								p.L140L(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)			GGTGGAAGTGCAGGCCAAGCG	0.602										HNSCC(54;0.14)																												uc003yuy.2																			2	Substitution - coding silent(2)		lung(2)	ovary(7)|skin(2)	9						c.(418-420)CTG>CTT		hypothetical protein LOC51059							120.0	134.0	130.0					8																	139263206		2154	4238	6392	SO:0001819	synonymous_variant	51059							g.chr8:139263206C>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.420G>T	8.37:g.139263206C>A		HNSCC(54;0.14)				FAM135B_uc003yux.2_Silent_p.L41L|FAM135B_uc003yuz.2_RNA	p.L140L	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		6	591	-	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)		140					B5MDB3|O95879|Q2WGJ7|Q3KP46	Silent	SNP	ENST00000395297.1	37	c.420G>T	CCDS6375.2																																																																																				PASS	0.602	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		145	361	145	361	---	---	---	---
ZNF623	9831	broad.mit.edu	37	8	144732305	144732305	+	Missense_Mutation	SNP	T	T	G			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr8:144732305T>G	ENST00000501748.2	+	1	352	c.263T>G	c.(262-264)aTc>aGc	p.I88S	ZNF623_ENST00000458270.2_Missense_Mutation_p.I48S|ZNF623_ENST00000526926.1_Missense_Mutation_p.I48S	NM_014789.3	NP_055604	O75123	ZN623_HUMAN	zinc finger protein 623	88					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I88S(1)		endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CATTGGAAGATCCAGACAGGA	0.522																																						uc003yzd.2																			1	Substitution - Missense(1)		lung(1)		0						c.(262-264)ATC>AGC		zinc finger protein 623 isoform 1							84.0	85.0	85.0					8																	144732305		2203	4300	6503	SO:0001583	missense	9831				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:144732305T>G	AB014528	CCDS34957.1, CCDS47931.1	8q24.3	2013-01-08				ENSG00000183309		"""Zinc fingers, C2H2-type"""	29084	protein-coding gene	gene with protein product						9734811	Standard	NM_014789		Approved	KIAA0628	uc003yzd.2	O75123		ENST00000501748.2:c.263T>G	8.37:g.144732305T>G	ENSP00000445979:p.Ile88Ser					ZNF623_uc011lkp.1_Missense_Mutation_p.I48S|ZNF623_uc003yzc.2_Missense_Mutation_p.I48S	p.I88S	NM_014789	NP_055604	O75123	ZN623_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		1	352	+	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		88					A4FU80|B4DGP3|E7ENV5	Missense_Mutation	SNP	ENST00000501748.2	37	c.263T>G	CCDS34957.1	.	.	.	.	.	.	.	.	.	.	T	14.32	2.501201	0.44455	.	.	ENSG00000183309	ENST00000526926;ENST00000328466;ENST00000458270;ENST00000532796;ENST00000501748	T;T;T	0.16597	2.33;2.33;2.33	4.06	4.06	0.47325	.	.	.	.	.	T	0.25344	0.0616	L	0.48362	1.52	0.33198	D	0.551772	D	0.58268	0.982	P	0.53313	0.723	T	0.32981	-0.9886	9	0.59425	D	0.04	-9.8234	11.2895	0.49241	0.0:0.0:0.0:1.0	.	88	O75123	ZN623_HUMAN	S	48;48;48;88;88	ENSP00000435232:I48S;ENSP00000411139:I48S;ENSP00000445979:I88S	ENSP00000330358:I48S	I	+	2	0	ZNF623	144803448	0.011000	0.17503	1.000000	0.80357	0.873000	0.50193	0.082000	0.14847	1.844000	0.53588	0.533000	0.62120	ATC		PASS	0.522	ZNF623-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382522.3	NM_014789		8	383	8	383	---	---	---	---
EPPK1	83481	broad.mit.edu	37	8	144946303	144946303	+	Silent	SNP	G	G	T			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr8:144946303G>T	ENST00000525985.1	-	2	1190	c.1119C>A	c.(1117-1119)tcC>tcA	p.S373S				P58107	EPIPL_HUMAN	epiplakin 1	373						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)	p.S373S(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGGGGATTTGGGAGCCACTGA	0.662																																						uc003zaa.1																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)|skin(1)	2						c.(1117-1119)TCC>TCA		epiplakin 1							8.0	10.0	9.0					8																	144946303		1921	4110	6031	SO:0001819	synonymous_variant	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144946303G>T	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.1119C>A	8.37:g.144946303G>T							p.S373S	NM_031308	NP_112598	P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		1	1132	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		373			Plectin 8.		Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37	c.1119C>A																																																																																					PASS	0.662	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		5	18	5	18	---	---	---	---
RFX3	5991	broad.mit.edu	37	9	3330505	3330505	+	Silent	SNP	C	C	A	rs562377422		TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr9:3330505C>A	ENST00000382004.3	-	5	539	c.228G>T	c.(226-228)acG>acT	p.T76T	RFX3_ENST00000358730.2_Silent_p.T76T|RFX3_ENST00000302303.1_Silent_p.T76T	NM_001282116.1|NM_134428.1	NP_001269045.1|NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	76					cell maturation (GO:0048469)|cilium assembly (GO:0042384)|cilium-dependent cell motility (GO:0060285)|endocrine pancreas development (GO:0031018)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type B pancreatic cell development (GO:2000078)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell maturation (GO:0072560)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.T76T(2)		central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		TGTAAGGATACGTTGTTGTTC	0.353																																						uc003zhr.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(226-228)ACG>ACT		regulatory factor X3 isoform b							91.0	88.0	89.0					9																	3330505		2203	4300	6503	SO:0001819	synonymous_variant	5991				cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding	g.chr9:3330505C>A	AI811824	CCDS6449.1, CCDS6450.1, CCDS75809.1	9p24.2	2008-02-05			ENSG00000080298	ENSG00000080298			9984	protein-coding gene	gene with protein product		601337				8289803	Standard	XM_005251534		Approved		uc003zhr.3	P48380	OTTHUMG00000019456	ENST00000382004.3:c.228G>T	9.37:g.3330505C>A						RFX3_uc010mhd.2_Silent_p.T76T|RFX3_uc003zhs.1_Silent_p.T76T|RFX3_uc003zht.1_Silent_p.T76T|RFX3_uc010mhe.1_Silent_p.T76T	p.T76T	NM_134428	NP_602304	P48380	RFX3_HUMAN		GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)	5	540	-			76					A8K0H5|D3DRH8|D3DRH9|Q5JTL7|Q5JTL8|Q6NW13|Q8WTU4|Q95HL5|Q95HL6	Silent	SNP	ENST00000382004.3	37	c.228G>T	CCDS6449.1																																																																																				PASS	0.353	RFX3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051545.1	NM_002919		141	93	141	93	---	---	---	---
TESK1	7016	broad.mit.edu	37	9	35609289	35609289	+	Silent	SNP	G	G	A	rs557615363		TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr9:35609289G>A	ENST00000336395.5	+	10	1681	c.1431G>A	c.(1429-1431)ccG>ccA	p.P477P	MIR4667_ENST00000578933.1_RNA|TESK1_ENST00000498522.1_3'UTR|CD72_ENST00000490239.1_5'Flank	NM_006285.2	NP_006276.2	Q15569	TESK1_HUMAN	testis-specific kinase 1	477					cell junction assembly (GO:0034329)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.P477P(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	27			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GCCCTGAGCCGGAACCTCCAG	0.667													G|||	1	0.000199681	0.0	0.0	5008	,	,		16028	0.0		0.0	False		,,,				2504	0.001					uc003zxa.2																			1	Substitution - coding silent(1)		lung(1)	stomach(2)|breast(2)|lung(1)|ovary(1)|skin(1)	7						c.(1429-1431)CCG>CCA		testis-specific protein kinase 1							32.0	36.0	35.0					9																	35609289		2202	4295	6497	SO:0001819	synonymous_variant	7016				cell junction assembly|spermatogenesis	cytosol	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr9:35609289G>A	D50863	CCDS6580.1	9p13	2010-04-27			ENSG00000107140	ENSG00000107140	2.7.12.1		11731	protein-coding gene	gene with protein product	"""testis-specific kinase-1"", ""testis specific kinase-1"""	601782				8537404	Standard	NM_006285		Approved		uc003zxa.3	Q15569	OTTHUMG00000019863	ENST00000336395.5:c.1431G>A	9.37:g.35609289G>A						TESK1_uc003zwz.1_RNA|TESK1_uc010mks.2_Silent_p.P317P	p.P477P	NM_006285	NP_006276	Q15569	TESK1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		10	1767	+			477					Q8IXZ8	Silent	SNP	ENST00000336395.5	37	c.1431G>A	CCDS6580.1	.	.	.	.	.	.	.	.	.	.	G	6.729	0.503269	0.12822	.	.	ENSG00000107140	ENST00000535770	.	.	.	5.79	2.29	0.28610	.	.	.	.	.	T	0.62684	0.2448	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61941	-0.6959	5	0.87932	D	0	-10.3395	7.0854	0.25254	0.5809:0.0:0.4191:0.0	.	.	.	.	Q	9	.	ENSP00000440959:R9Q	R	+	2	0	TESK1	35599289	0.157000	0.22836	1.000000	0.80357	0.915000	0.54546	-0.289000	0.08365	0.474000	0.27392	-0.302000	0.09304	CGG		PASS	0.667	TESK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052314.1	NM_006285		25	234	25	234	---	---	---	---
NPR2	4882	broad.mit.edu	37	9	35802240	35802240	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr9:35802240G>A	ENST00000342694.2	+	10	1925	c.1670G>A	c.(1669-1671)cGc>cAc	p.R557H		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2	557	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.R557H(2)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	AATAAGAAGCGCATTGAGCTG	0.433																																						uc003zyd.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|stomach(1)	3						c.(1669-1671)CGC>CAC		natriuretic peptide receptor B precursor	Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)						105.0	102.0	103.0					9																	35802240		2203	4300	6503	SO:0001583	missense	4882				intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity	g.chr9:35802240G>A	AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"""guanylate cyclase B"""	108961	"""acromesomelic dysplasia, Maroteaux type"", ""atrionatriuretic peptide receptor B"", ""natriuretic peptide receptor B"""	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871	ENST00000342694.2:c.1670G>A	9.37:g.35802240G>A	ENSP00000341083:p.Arg557His					NPR2_uc010mlb.2_Missense_Mutation_p.R557H	p.R557H	NM_003995	NP_003986	P20594	ANPRB_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		10	1670	+	all_epithelial(49;0.161)		557			Protein kinase.|Cytoplasmic (Potential).		B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Missense_Mutation	SNP	ENST00000342694.2	37	c.1670G>A	CCDS6590.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.568669	0.86439	.	.	ENSG00000159899	ENST00000342694	T	0.46819	0.86	5.36	5.36	0.76844	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.43919	D	0.000513	T	0.62454	0.2429	L	0.46157	1.445	0.58432	D	0.999999	D;P	0.89917	1.0;0.806	D;B	0.77557	0.99;0.168	T	0.56195	-0.8019	10	0.31617	T	0.26	.	18.0316	0.89286	0.0:0.0:1.0:0.0	.	557;557	P20594-2;P20594	.;ANPRB_HUMAN	H	557	ENSP00000341083:R557H	ENSP00000341083:R557H	R	+	2	0	NPR2	35792240	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.844000	0.86867	2.693000	0.91896	0.650000	0.86243	CGC		PASS	0.433	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052345.1			79	240	79	240	---	---	---	---
FOXB2	442425	broad.mit.edu	37	9	79634612	79634612	+	Silent	SNP	G	G	T			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr9:79634612G>T	ENST00000376708.1	+	1	42	c.42G>T	c.(40-42)ccG>ccT	p.P14P		NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN	forkhead box B2	14					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P14P(3)		breast(1)|lung(8)|ovary(1)	10						ACCAAAAACCGCCCTACTCTT	0.632																																						uc004ako.1																			3	Substitution - coding silent(3)		lung(3)		0						c.(40-42)CCG>CCT		forkhead box B2							46.0	42.0	43.0					9																	79634612		2203	4300	6503	SO:0001819	synonymous_variant	442425				brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr9:79634612G>T		CCDS35045.1	9q21.2	2008-02-05			ENSG00000204612	ENSG00000204612		"""Forkhead boxes"""	23315	protein-coding gene	gene with protein product							Standard	NM_001013735		Approved	bA159H20.4	uc004ako.1	Q5VYV0	OTTHUMG00000020051	ENST00000376708.1:c.42G>T	9.37:g.79634612G>T							p.P14P	NM_001013735	NP_001013757	Q5VYV0	FOXB2_HUMAN			1	42	+			14			Fork-head.			Silent	SNP	ENST00000376708.1	37	c.42G>T	CCDS35045.1																																																																																				PASS	0.632	FOXB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052745.1	NM_001013735		8	33	8	33	---	---	---	---
ZNF462	58499	broad.mit.edu	37	9	109689781	109689781	+	Silent	SNP	G	G	A			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr9:109689781G>A	ENST00000277225.5	+	3	3877	c.3588G>A	c.(3586-3588)caG>caA	p.Q1196Q	ZNF462_ENST00000441147.2_Silent_p.Q41Q|ZNF462_ENST00000457913.1_Silent_p.Q1196Q			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1196					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q1196Q(1)		NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						TCTTTTGCCAGCACTGTGATT	0.547																																						uc004bcz.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)	5						c.(3586-3588)CAG>CAA		zinc finger protein 462							274.0	273.0	274.0					9																	109689781		2203	4300	6503	SO:0001819	synonymous_variant	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109689781G>A	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.3588G>A	9.37:g.109689781G>A						ZNF462_uc010mto.2_Silent_p.Q1044Q|ZNF462_uc004bda.2_Silent_p.Q1044Q	p.Q1196Q	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN			3	3877	+			1196					Q5T0T4|Q8N408	Silent	SNP	ENST00000277225.5	37	c.3588G>A	CCDS35096.1																																																																																				PASS	0.547	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		6	901	6	901	---	---	---	---
IKBKAP	8518	broad.mit.edu	37	9	111656244	111656244	+	Missense_Mutation	SNP	T	T	C			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr9:111656244T>C	ENST00000374647.5	-	26	3146	c.2839A>G	c.(2839-2841)Att>Gtt	p.I947V	IKBKAP_ENST00000537196.1_Missense_Mutation_p.I598V	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	947					chromatin organization (GO:0006325)|immune response (GO:0006955)|positive regulation of cell migration (GO:0030335)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)|signal transducer activity (GO:0004871)	p.I947V(1)		NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						AGGTGGCCAATGGCTTTTTCA	0.338																																						uc004bdm.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1)	7						c.(2839-2841)ATT>GTT		inhibitor of kappa light polypeptide gene							177.0	167.0	170.0					9																	111656244		2203	4300	6503	SO:0001583	missense	8518				immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity	g.chr9:111656244T>C	AF044195	CCDS6773.1	9q31	2014-09-17	2003-12-02		ENSG00000070061	ENSG00000070061		"""Elongator acetyltransferase complex subunits"""	5959	protein-coding gene	gene with protein product	"""elongator acetyltransferase complex subunit 1"""	603722	"""dysautonomia (Riley-Day syndrome, hereditary sensory autonomic neuropathy type III)"""	DYS		9751059, 11179008	Standard	NM_003640		Approved	IKAP, TOT1, ELP1, IKI3	uc004bdm.4	O95163	OTTHUMG00000020465	ENST00000374647.5:c.2839A>G	9.37:g.111656244T>C	ENSP00000363779:p.Ile947Val					IKBKAP_uc004bdl.2_Missense_Mutation_p.I598V|IKBKAP_uc011lwc.1_Missense_Mutation_p.I833V|IKBKAP_uc010mtq.2_Missense_Mutation_p.I598V|IKBKAP_uc004bdk.2_5'Flank|IKBKAP_uc010mtp.2_5'Flank	p.I947V	NM_003640	NP_003631	O95163	ELP1_HUMAN			26	3359	-			947					Q5JSV2|Q9H327|Q9UG87	Missense_Mutation	SNP	ENST00000374647.5	37	c.2839A>G	CCDS6773.1	.	.	.	.	.	.	.	.	.	.	T	11.73	1.726355	0.30593	.	.	ENSG00000070061	ENST00000374647;ENST00000537196	T;T	0.28069	1.63;1.63	5.95	2.36	0.29203	.	0.340546	0.32624	N	0.005853	T	0.17789	0.0427	L	0.28344	0.845	0.26473	N	0.975241	B	0.06786	0.001	B	0.12156	0.007	T	0.13361	-1.0512	10	0.39692	T	0.17	-7.3385	4.8498	0.13531	0.0:0.163:0.3242:0.5129	.	947	O95163	ELP1_HUMAN	V	947;598	ENSP00000363779:I947V;ENSP00000439367:I598V	ENSP00000363779:I947V	I	-	1	0	IKBKAP	110696065	1.000000	0.71417	0.992000	0.48379	0.976000	0.68499	1.736000	0.38187	0.488000	0.27723	-0.386000	0.06593	ATT		PASS	0.338	IKBKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053574.1			118	75	118	75	---	---	---	---
TNC	3371	broad.mit.edu	37	9	117853217	117853217	+	Missense_Mutation	SNP	T	T	A			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr9:117853217T>A	ENST00000350763.4	-	2	492	c.81A>T	c.(79-81)aaA>aaT	p.K27N	TNC_ENST00000423613.2_Missense_Mutation_p.K27N|TNC_ENST00000345230.3_Missense_Mutation_p.K27N|TNC_ENST00000542877.1_Missense_Mutation_p.K27N|TNC_ENST00000535648.1_Missense_Mutation_p.K27N|TNC_ENST00000537320.1_Missense_Mutation_p.K27N|TNC_ENST00000341037.4_Missense_Mutation_p.K27N|TNC_ENST00000346706.3_Missense_Mutation_p.K27N|TNC_ENST00000340094.3_Missense_Mutation_p.K27N	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	27					bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)	p.K27N(1)		NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GCCGGATGACTTTCTTGAGGA	0.567																																						uc004bjj.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7						c.(79-81)AAA>AAT		tenascin C precursor							69.0	68.0	68.0					9																	117853217		2203	4300	6503	SO:0001583	missense	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117853217T>A		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.81A>T	9.37:g.117853217T>A	ENSP00000265131:p.Lys27Asn					TNC_uc010mvf.2_Missense_Mutation_p.K27N	p.K27N	NM_002160	NP_002151	P24821	TENA_HUMAN			2	443	-			27					C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	c.81A>T	CCDS6811.1	.	.	.	.	.	.	.	.	.	.	T	19.58	3.854180	0.71719	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000442945;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877;ENST00000534839	T;T;T;T;T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88	5.58	4.45	0.53987	.	0.284712	0.39475	N	0.001345	T	0.37183	0.0994	L	0.53249	1.67	0.43039	D	0.994626	B;B	0.32338	0.365;0.064	B;B	0.30401	0.115;0.063	T	0.40869	-0.9540	10	0.72032	D	0.01	.	10.2067	0.43118	0.0:0.0779:0.0:0.9221	.	27;27	E9PC84;P24821	.;TENA_HUMAN	N	27	ENSP00000344400:K27N;ENSP00000438152:K27N;ENSP00000344555:K27N;ENSP00000345861:K27N;ENSP00000265131:K27N;ENSP00000339553:K27N;ENSP00000411406:K27N;ENSP00000443478:K27N;ENSP00000442242:K27N;ENSP00000443469:K27N	ENSP00000344400:K27N	K	-	3	2	TNC	116893038	1.000000	0.71417	0.997000	0.53966	0.929000	0.56500	1.600000	0.36762	2.107000	0.64212	0.379000	0.24179	AAA		PASS	0.567	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		80	67	80	67	---	---	---	---
OLFML2A	169611	broad.mit.edu	37	9	127572626	127572626	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr9:127572626G>C	ENST00000373580.3	+	8	1894	c.1894G>C	c.(1894-1896)Gag>Cag	p.E632Q	OLFML2A_ENST00000288815.5_Missense_Mutation_p.E418Q	NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	632	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)	p.E632Q(1)		endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						CAACCCCAAGGAGCGGGTGCT	0.647																																						uc004bov.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1894-1896)GAG>CAG		olfactomedin-like 2A precursor							135.0	110.0	119.0					9																	127572626		2203	4300	6503	SO:0001583	missense	169611							g.chr9:127572626G>C	AK092255	CCDS6857.2, CCDS65129.1	9q34.11	2008-02-05			ENSG00000185585	ENSG00000185585			27270	protein-coding gene	gene with protein product		615899				12477932	Standard	NM_001282715		Approved	FLJ00237	uc004bov.3	Q68BL7	OTTHUMG00000020663	ENST00000373580.3:c.1894G>C	9.37:g.127572626G>C	ENSP00000362682:p.Glu632Gln					OLFML2A_uc004bow.2_Missense_Mutation_p.E418Q	p.E632Q	NM_182487	NP_872293	Q68BL7	OLM2A_HUMAN			8	2007	+			632			Olfactomedin-like.		Q5JTM5|Q5JTM6|Q6UXW1|Q7Z5V3	Missense_Mutation	SNP	ENST00000373580.3	37	c.1894G>C	CCDS6857.2	.	.	.	.	.	.	.	.	.	.	G	25.8	4.679878	0.88542	.	.	ENSG00000185585	ENST00000342100;ENST00000373580;ENST00000288815	T;D	0.90324	1.57;-2.65	5.26	5.26	0.73747	Olfactomedin-like (3);	0.057114	0.64402	D	0.000001	D	0.95730	0.8611	M	0.85197	2.74	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.991;0.993	D	0.96309	0.9227	10	0.87932	D	0	.	17.4244	0.87522	0.0:0.0:1.0:0.0	.	418;632	Q68BL7-3;Q68BL7	.;OLM2A_HUMAN	Q	324;632;418	ENSP00000362682:E632Q;ENSP00000288815:E418Q	ENSP00000288815:E418Q	E	+	1	0	OLFML2A	126612447	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	9.869000	0.99810	2.448000	0.82819	0.462000	0.41574	GAG		PASS	0.647	OLFML2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054046.2	NM_182487		4	203	4	203	---	---	---	---
FAM208B	54906	broad.mit.edu	37	10	5799602	5799602	+	Missense_Mutation	SNP	A	A	G			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr10:5799602A>G	ENST00000328090.5	+	17	7477	c.6852A>G	c.(6850-6852)atA>atG	p.I2284M		NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	2284								p.I2284M(1)									GCTTTGTGATATCAGATGACA	0.418																																						uc001iij.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(6850-6852)ATA>ATG		hypothetical protein LOC54906							248.0	235.0	239.0					10																	5799602		1900	4123	6023	SO:0001583	missense	54906							g.chr10:5799602A>G	BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 18"""	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.6852A>G	10.37:g.5799602A>G	ENSP00000328426:p.Ile2284Met					C10orf18_uc001iik.2_Missense_Mutation_p.I1128M	p.I2284M	NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN			17	7477	+			2284					Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP	ENST00000328090.5	37	c.6852A>G	CCDS41485.1	.	.	.	.	.	.	.	.	.	.	A	10.82	1.457189	0.26161	.	.	ENSG00000108021	ENST00000328090;ENST00000442808	T	0.47528	0.84	5.59	-11.2	0.00127	.	0.467397	0.19946	N	0.102524	T	0.15825	0.0381	N	0.02539	-0.55	0.19300	N	0.99997	P	0.49961	0.93	P	0.44732	0.459	T	0.52801	-0.8527	10	0.49607	T	0.09	.	7.4468	0.27215	0.143:0.3429:0.4337:0.0805	.	2284	Q5VWN6	F208B_HUMAN	M	2284;1479	ENSP00000328426:I2284M	ENSP00000328426:I2284M	I	+	3	3	C10orf18	5839608	0.011000	0.17503	0.300000	0.25030	0.004000	0.04260	-1.293000	0.02770	-1.870000	0.01139	-1.119000	0.02030	ATA		PASS	0.418	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2	NM_017782		11	624	11	624	---	---	---	---
CACNB2	783	broad.mit.edu	37	10	18828262	18828262	+	Missense_Mutation	SNP	G	G	A	rs184280124	byFrequency	TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr10:18828262G>A	ENST00000324631.7	+	14	1652	c.1592G>A	c.(1591-1593)cGc>cAc	p.R531H	CACNB2_ENST00000377319.3_Missense_Mutation_p.R438H|CACNB2_ENST00000352115.6_Missense_Mutation_p.R507H|CACNB2_ENST00000377328.1_Missense_Mutation_p.R281H|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000377329.4_Missense_Mutation_p.R477H|CACNB2_ENST00000377331.2_Missense_Mutation_p.R479H|CACNB2_ENST00000282343.8_Missense_Mutation_p.R503H|RP11-499P20.2_ENST00000436485.1_RNA|CACNB2_ENST00000377315.4_Missense_Mutation_p.R483H|CACNB2_ENST00000396576.2_Missense_Mutation_p.R476H	NM_201593.2|NM_201596.2	NP_963887.2|NP_963890.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	531					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|neuromuscular junction development (GO:0007528)|positive regulation of calcium ion transport (GO:0051928)|synaptic transmission (GO:0007268)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|voltage-gated calcium channel complex (GO:0005891)	calcium channel activity (GO:0005262)|voltage-gated calcium channel activity (GO:0005245)	p.R507H(1)|p.R476H(1)|p.R477H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Amlodipine(DB00381)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TCCCAGCACCGCTCTTCCTCC	0.557													G|||	2	0.000399361	0.0	0.0029	5008	,	,		18352	0.0		0.0	False		,,,				2504	0.0					uc001ipr.2																			3	Substitution - Missense(3)		lung(3)	large_intestine(1)|central_nervous_system(1)|skin(1)	3						c.(1591-1593)CGC>CAC		calcium channel, voltage-dependent, beta 2	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						91.0	85.0	87.0					10																	18828262		2203	4300	6503	SO:0001583	missense	783				axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr10:18828262G>A	U95019	CCDS7125.1, CCDS7126.1, CCDS7127.1, CCDS7128.1, CCDS7129.1, CCDS41493.1, CCDS41494.1	10p12	2014-09-17			ENSG00000165995	ENSG00000165995		"""Calcium channel subunits"""	1402	protein-coding gene	gene with protein product		600003		MYSB, CACNLB2		9254841, 8494331	Standard	NM_201596		Approved		uc001ipr.2	Q08289	OTTHUMG00000017764	ENST00000324631.7:c.1592G>A	10.37:g.18828262G>A	ENSP00000320025:p.Arg531His					CACNB2_uc009xjz.1_Missense_Mutation_p.R281H|CACNB2_uc001ips.2_Missense_Mutation_p.R507H|CACNB2_uc001ipt.2_Missense_Mutation_p.R493H|CACNB2_uc001ipu.2_Missense_Mutation_p.R503H|CACNB2_uc001ipv.2_Missense_Mutation_p.R479H|CACNB2_uc009xka.1_Missense_Mutation_p.R465H|CACNB2_uc001ipw.2_Missense_Mutation_p.R438H|CACNB2_uc001ipx.2_Missense_Mutation_p.R476H|CACNB2_uc001ipz.2_Missense_Mutation_p.R453H|CACNB2_uc001ipy.2_Missense_Mutation_p.R477H|CACNB2_uc010qco.1_Missense_Mutation_p.R445H|CACNB2_uc001iqa.2_Missense_Mutation_p.R483H|NSUN6_uc001iqb.2_Intron	p.R531H	NM_201596	NP_963890	Q08289	CACB2_HUMAN			14	1652	+			531					A6PVM5|A6PVM7|A6PVM8|O00304|Q5QJ99|Q5QJA0|Q5VVG9|Q5VVH0|Q5VWV6|Q6TME1|Q6TME2|Q6TME3|Q8WX81|Q96NZ3|Q96NZ4|Q96NZ5|Q9BWU2|Q9HD32|Q9Y340|Q9Y341	Missense_Mutation	SNP	ENST00000324631.7	37	c.1592G>A	CCDS7125.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	16.43	3.119971	0.56613	.	.	ENSG00000165995	ENST00000324631;ENST00000352115;ENST00000377328;ENST00000282343;ENST00000377331;ENST00000396576;ENST00000377319;ENST00000377329;ENST00000377315	D;T;D;D;T;D;D;D;D	0.83914	-1.73;1.83;-1.78;-1.73;1.83;-1.73;-1.73;-1.72;-1.73	5.84	5.84	0.93424	.	0.547984	0.18806	N	0.130660	D	0.85120	0.5624	N	0.14661	0.345	0.58432	D	0.999992	D;D;D;D;B;D;D;D;D;D;D;D;D	0.89917	0.971;1.0;1.0;0.992;0.091;0.995;0.981;0.999;1.0;1.0;0.983;1.0;1.0	P;D;D;P;B;P;B;P;D;D;P;D;D	0.74674	0.474;0.964;0.955;0.584;0.016;0.763;0.443;0.891;0.935;0.984;0.674;0.984;0.964	D	0.85703	0.1314	10	0.45353	T	0.12	-10.7463	20.1511	0.98086	0.0:0.0:1.0:0.0	.	445;503;281;483;453;477;487;438;479;503;493;507;531	B7Z1U5;Q5QJA0;A6PVM6;Q5VVH1;Q6TME1;Q08289-3;Q59H42;Q08289-6;A6PVM7;Q08289-4;Q08289-7;Q08289-8;Q08289	.;.;.;.;.;.;.;.;.;.;.;.;CACB2_HUMAN	H	531;507;281;503;479;476;438;477;483	ENSP00000320025:R531H;ENSP00000344474:R507H;ENSP00000366545:R281H;ENSP00000282343:R503H;ENSP00000366548:R479H;ENSP00000379821:R476H;ENSP00000366536:R438H;ENSP00000366546:R477H;ENSP00000366532:R483H	ENSP00000282343:R503H	R	+	2	0	CACNB2	18868268	1.000000	0.71417	0.826000	0.32828	0.985000	0.73830	8.500000	0.90498	2.778000	0.95560	0.655000	0.94253	CGC		PASS	0.557	CACNB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047072.2	NM_000724		53	135	53	135	---	---	---	---
MLLT10	8028	broad.mit.edu	37	10	22021982	22021982	+	Silent	SNP	G	G	C	rs150645153		TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr10:22021982G>C	ENST00000307729.7	+	18	2551	c.2373G>C	c.(2371-2373)ccG>ccC	p.P791P	MLLT10_ENST00000446906.2_Silent_p.P791P|MLLT10_ENST00000377072.3_Silent_p.P807P|MLLT10_ENST00000377059.3_Silent_p.P791P			P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	791					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.P791P(1)|p.P807P(1)		NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						ATCCTAGTCCGTCTCATCAAA	0.338			T	"""MLL, PICALM, CDK6"""	AL																																	uc001iqs.2				Dom	yes		10	10p12	8028	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (AF10)"""			L	MLL|PICALM|CDK6		AL		2	Substitution - coding silent(2)		lung(2)	lung(1)|skin(1)	2						c.(2419-2421)CCG>CCC		myeloid/lymphoid or mixed-lineage leukemia							100.0	95.0	97.0					10																	22021982		2203	4300	6503	SO:0001819	synonymous_variant	8028				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:22021982G>C	U13948	CCDS7135.1, CCDS55706.1, CCDS55707.1, CCDS55708.1	10p12	2013-01-28	2001-11-28		ENSG00000078403	ENSG00000078403		"""Zinc fingers, PHD-type"""	16063	protein-coding gene	gene with protein product		602409	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 10"""			7888665	Standard	NM_004641		Approved	AF10	uc021pny.1	P55197	OTTHUMG00000017799	ENST00000307729.7:c.2373G>C	10.37:g.22021982G>C						MLLT10_uc001iqt.2_Silent_p.P791P|MLLT10_uc001iqv.2_RNA|MLLT10_uc001iqy.2_Silent_p.P791P|MLLT10_uc001ira.2_Silent_p.P248P|MLLT10_uc001irb.2_RNA	p.P807P	NM_004641	NP_004632	P55197	AF10_HUMAN			19	2769	+			807					B1ANA8|Q5JT37|Q5VX90|Q66K63	Silent	SNP	ENST00000307729.7	37	c.2421G>C	CCDS55708.1																																																																																				PASS	0.338	MLLT10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047136.1			4	161	4	161	---	---	---	---
GPR158	57512	broad.mit.edu	37	10	25886855	25886855	+	Missense_Mutation	SNP	G	G	T	rs145808794		TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr10:25886855G>T	ENST00000376351.3	+	11	2659	c.2300G>T	c.(2299-2301)cGg>cTg	p.R767L	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	767					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R767L(1)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						ACAGTCAGCCGGCAGTGCTCT	0.572																																						uc001isj.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						c.(2299-2301)CGG>CTG		G protein-coupled receptor 158 precursor							88.0	98.0	94.0					10																	25886855		2203	4300	6503	SO:0001583	missense	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25886855G>T	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.2300G>T	10.37:g.25886855G>T	ENSP00000365529:p.Arg767Leu					GPR158_uc001isk.2_Missense_Mutation_p.R142L	p.R767L	NM_020752	NP_065803	Q5T848	GP158_HUMAN			11	2360	+			767			Cytoplasmic (Potential).		Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	c.2300G>T	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	G	36	5.627924	0.96671	.	.	ENSG00000151025	ENST00000376351	T	0.70631	-0.5	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.84538	0.5494	M	0.72353	2.195	0.58432	D	0.999996	D	0.89917	1.0	D	0.87578	0.998	D	0.85039	0.0922	10	0.72032	D	0.01	.	20.0026	0.97425	0.0:0.0:1.0:0.0	.	767	Q5T848	GP158_HUMAN	L	767	ENSP00000365529:R767L	ENSP00000365529:R767L	R	+	2	0	GPR158	25926861	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.476000	0.97823	2.722000	0.93159	0.650000	0.86243	CGG		PASS	0.572	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		62	181	62	181	---	---	---	---
GAD2	2572	broad.mit.edu	37	10	26581459	26581459	+	Silent	SNP	C	C	T			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr10:26581459C>T	ENST00000376261.3	+	14	1955	c.1452C>T	c.(1450-1452)atC>atT	p.I484I	GAD2_ENST00000259271.3_Silent_p.I484I	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	484					glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|cell junction (GO:0030054)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)	p.I484I(1)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TATACAACATCATAAAAAACC	0.403																																						uc001isp.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(1450-1452)ATC>ATT		glutamate decarboxylase 2	L-Glutamic Acid(DB00142)						125.0	120.0	122.0					10																	26581459		2203	4300	6503	SO:0001819	synonymous_variant	2572				glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr10:26581459C>T	AJ251501	CCDS7149.1	10p13-p11.2	2003-11-11	2002-08-29		ENSG00000136750	ENSG00000136750	4.1.1.15		4093	protein-coding gene	gene with protein product		138275	"""glutamate decarboxylase 2 (pancreatic islets and brain, 65kD)"""			2039509	Standard	NM_000818		Approved	GAD65	uc001isp.2	Q05329	OTTHUMG00000017836	ENST00000376261.3:c.1452C>T	10.37:g.26581459C>T						GAD2_uc001isq.2_Silent_p.I484I	p.I484I	NM_001134366	NP_001127838	Q05329	DCE2_HUMAN			14	1955	+			484					Q9UD87	Silent	SNP	ENST00000376261.3	37	c.1452C>T	CCDS7149.1																																																																																				PASS	0.403	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047255.1	NM_000818		95	185	95	185	---	---	---	---
CTNNA3	29119	broad.mit.edu	37	10	67680123	67680123	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr10:67680123C>A	ENST00000433211.2	-	18	2827	c.2653G>T	c.(2653-2655)Gtc>Ttc	p.V885F	CTNNA3_ENST00000373735.1_5'UTR|CTNNA3_ENST00000373744.4_Missense_Mutation_p.V885F	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3									p.V885F(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						TCACTCATGACTTGCAATGGA	0.403																																						uc009xpn.1																			2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1)	8						c.(2653-2655)GTC>TTC		catenin, alpha 3							139.0	139.0	139.0					10																	67680123		2203	4300	6503	SO:0001583	missense	29119				cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	g.chr10:67680123C>A	AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.2653G>T	10.37:g.67680123C>A	ENSP00000389714:p.Val885Phe					CTNNA3_uc001jmw.2_Missense_Mutation_p.V885F	p.V885F	NM_001127384	NP_001120856	Q9UI47	CTNA3_HUMAN			18	2776	-			885						Missense_Mutation	SNP	ENST00000433211.2	37	c.2653G>T	CCDS7269.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.049134	0.93740	.	.	ENSG00000183230	ENST00000433211;ENST00000373744;ENST00000373735	T;T;T	0.46451	1.39;1.39;0.87	5.92	5.92	0.95590	.	0.000000	0.51477	D	0.000087	T	0.41190	0.1148	L	0.50333	1.59	0.80722	D	1	P	0.37864	0.61	B	0.34991	0.193	T	0.38908	-0.9639	10	0.72032	D	0.01	-19.8302	17.8145	0.88627	0.0:1.0:0.0:0.0	.	885	Q9UI47	CTNA3_HUMAN	F	885;885;224	ENSP00000389714:V885F;ENSP00000362849:V885F;ENSP00000362840:V224F	ENSP00000362840:V224F	V	-	1	0	CTNNA3	67350129	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.083000	0.71326	2.809000	0.96659	0.655000	0.94253	GTC		PASS	0.403	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	NM_013266		41	156	41	156	---	---	---	---
ADAMTS14	140766	broad.mit.edu	37	10	72518000	72518000	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr10:72518000C>T	ENST00000373207.1	+	21	3137	c.3137C>T	c.(3136-3138)cCa>cTa	p.P1046L	ADAMTS14_ENST00000373208.1_Missense_Mutation_p.P1049L	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	1046					collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.P1049L(1)		NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CAGTGGGTGCCACAATCTGAA	0.517																																						uc001jrh.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(1)	6						c.(3136-3138)CCA>CTA		ADAM metallopeptidase with thrombospondin type 1							116.0	103.0	108.0					10																	72518000		2203	4300	6503	SO:0001583	missense	140766				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr10:72518000C>T	AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14899	protein-coding gene	gene with protein product		607506	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"""			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.3137C>T	10.37:g.72518000C>T	ENSP00000362303:p.Pro1046Leu					ADAMTS14_uc001jrg.2_Missense_Mutation_p.P1049L	p.P1046L	NM_080722	NP_542453	Q8WXS8	ATS14_HUMAN			21	3137	+			1046					Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Missense_Mutation	SNP	ENST00000373207.1	37	c.3137C>T	CCDS7306.1	.	.	.	.	.	.	.	.	.	.	C	12.53	1.966362	0.34659	.	.	ENSG00000138316	ENST00000373208;ENST00000373207	T;T	0.60920	0.15;0.18	3.88	3.88	0.44766	.	0.666420	0.14780	N	0.298846	T	0.43389	0.1245	L	0.43152	1.355	0.09310	N	0.999998	B;B	0.31125	0.222;0.309	B;B	0.25140	0.058;0.058	T	0.19095	-1.0316	10	0.14252	T	0.57	.	9.5035	0.39033	0.0:0.9008:0.0:0.0992	.	1046;1049	Q8WXS8;Q5T4G1	ATS14_HUMAN;.	L	1049;1046	ENSP00000362304:P1049L;ENSP00000362303:P1046L	ENSP00000362303:P1046L	P	+	2	0	ADAMTS14	72188006	0.034000	0.19679	0.014000	0.15608	0.072000	0.16883	2.916000	0.48813	2.001000	0.58596	0.561000	0.74099	CCA		PASS	0.517	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048522.1	NM_080722		47	183	47	183	---	---	---	---
SORCS3	22986	broad.mit.edu	37	10	107022249	107022249	+	Splice_Site	SNP	G	G	A			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr10:107022249G>A	ENST00000369701.3	+	26	3831	c.3604G>A	c.(3604-3606)Gga>Aga	p.G1202R		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	1202					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)	p.G1202R(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GCGGGTCATAGGTACATGCTC	0.547																																					NSCLC(116;1497 1690 7108 13108 14106)	uc001kyi.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|central_nervous_system(1)	10						c.(3604-3606)GGA>AGA		VPS10 domain receptor protein SORCS 3 precursor							57.0	45.0	49.0					10																	107022249		2203	4300	6503	SO:0001630	splice_region_variant	22986					integral to membrane	neuropeptide receptor activity	g.chr10:107022249G>A	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.3604+1G>A	10.37:g.107022249G>A							p.G1202R	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	26	3831	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	1202			Cytoplasmic (Potential).		Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	c.3604G>A	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	G	16.05	3.011745	0.54468	.	.	ENSG00000156395	ENST00000369701	T	0.20881	2.04	5.84	5.84	0.93424	.	0.057785	0.64402	D	0.000002	T	0.28466	0.0704	L	0.49126	1.545	0.43724	D	0.996203	B	0.24823	0.112	B	0.34722	0.188	T	0.03503	-1.1030	9	.	.	.	.	20.1579	0.98126	0.0:0.0:1.0:0.0	.	1202	Q9UPU3	SORC3_HUMAN	R	1202	ENSP00000358715:G1202R	.	G	+	1	0	SORCS3	107012239	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	4.033000	0.57282	2.767000	0.95098	0.555000	0.69702	GGA		PASS	0.547	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978	Missense_Mutation	22	61	22	61	---	---	---	---
TECTB	6975	broad.mit.edu	37	10	114063031	114063031	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr10:114063031C>G	ENST00000369422.3	+	10	951	c.951C>G	c.(949-951)caC>caG	p.H317Q		NM_058222.1	NP_478129.1	Q96PL2	TECTB_HUMAN	tectorin beta	317						anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.H317Q(1)		kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.198)		Epithelial(162;0.0143)|all cancers(201;0.0242)		ATGTTCTCCACCACCTCATCA	0.512																																						uc001kzr.1																			1	Substitution - Missense(1)		lung(1)		0						c.(949-951)CAC>CAG		tectorin beta precursor							247.0	206.0	220.0					10																	114063031		2203	4300	6503	SO:0001583	missense	6975					anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr10:114063031C>G	AF312827	CCDS7571.1	10q25-q26	2005-06-09			ENSG00000119913	ENSG00000119913			11721	protein-coding gene	gene with protein product		602653				9079715	Standard	NM_058222		Approved		uc001kzr.1	Q96PL2	OTTHUMG00000019056	ENST00000369422.3:c.951C>G	10.37:g.114063031C>G	ENSP00000358430:p.His317Gln						p.H317Q	NM_058222	NP_478129	Q96PL2	TECTB_HUMAN		Epithelial(162;0.0143)|all cancers(201;0.0242)	10	951	+		Colorectal(252;0.198)	317					Q5VW53	Missense_Mutation	SNP	ENST00000369422.3	37	c.951C>G	CCDS7571.1	.	.	.	.	.	.	.	.	.	.	C	7.492	0.650884	0.14516	.	.	ENSG00000119913	ENST00000369422	T	0.73363	-0.74	5.78	-7.67	0.01272	.	0.949341	0.08974	N	0.866892	T	0.50820	0.1638	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34428	-0.9829	10	0.29301	T	0.29	.	15.2292	0.73374	0.0:0.2779:0.0:0.7221	.	317	Q96PL2	TECTB_HUMAN	Q	317	ENSP00000358430:H317Q	ENSP00000358430:H317Q	H	+	3	2	TECTB	114053021	0.000000	0.05858	0.001000	0.08648	0.297000	0.27493	-1.325000	0.02687	-1.917000	0.01074	-0.136000	0.14681	CAC		PASS	0.512	TECTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050381.1	NM_058222		11	226	11	226	---	---	---	---
CHST15	51363	broad.mit.edu	37	10	125804267	125804267	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr10:125804267G>T	ENST00000346248.5	-	3	1357	c.715C>A	c.(715-717)Cac>Aac	p.H239N	CHST15_ENST00000421115.1_Missense_Mutation_p.H239N|CHST15_ENST00000435907.1_Missense_Mutation_p.H239N|CHST15_ENST00000462406.1_5'Flank	NM_015892.4	NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	239					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hexose biosynthetic process (GO:0019319)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)	p.H239N(2)		endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						TGCGCCAGGTGGCCCCAGAAG	0.652																																						uc001lhl.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(715-717)CAC>AAC		B cell RAG associated protein							97.0	86.0	90.0					10																	125804267		2203	4300	6503	SO:0001583	missense	51363				hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity	g.chr10:125804267G>T	AB011170	CCDS7638.1	10q26	2009-07-09			ENSG00000182022	ENSG00000182022	2.8.2.33	"""Sulfotransferases, membrane-bound"""	18137	protein-coding gene	gene with protein product	"""B cell RAG associated protein"", ""N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase"""	608277				9628581, 9754571, 11572857	Standard	NM_014863		Approved	GALNAC4S-6ST, BRAG, KIAA0598	uc001lhm.4	Q7LFX5	OTTHUMG00000019208	ENST00000346248.5:c.715C>A	10.37:g.125804267G>T	ENSP00000333947:p.His239Asn					CHST15_uc001lhm.2_Missense_Mutation_p.H239N|CHST15_uc001lhn.2_Missense_Mutation_p.H239N|CHST15_uc010que.1_Missense_Mutation_p.H239N|CHST15_uc001lho.2_Missense_Mutation_p.H239N	p.H239N	NM_015892	NP_056976	Q7LFX5	CHSTF_HUMAN			2	1228	-			239			Lumenal (Potential).		O60338|O60474|Q86VM4	Missense_Mutation	SNP	ENST00000346248.5	37	c.715C>A	CCDS7638.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.036155	0.93630	.	.	ENSG00000182022	ENST00000346248;ENST00000435907;ENST00000546346;ENST00000421115	.	.	.	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.74786	0.3762	L	0.48642	1.525	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.941	T	0.75923	-0.3146	9	0.62326	D	0.03	-42.7433	17.6244	0.88091	0.0:0.0:1.0:0.0	.	239;239	Q7LFX5-2;Q7LFX5	.;CHSTF_HUMAN	N	239	.	ENSP00000333947:H239N	H	-	1	0	CHST15	125794257	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.355000	0.73041	2.584000	0.87258	0.650000	0.86243	CAC		PASS	0.652	CHST15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050856.1	NM_015892		7	83	7	83	---	---	---	---
OR51F2	119694	broad.mit.edu	37	11	4842752	4842752	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr11:4842752G>C	ENST00000322110.5	+	1	202	c.137G>C	c.(136-138)tGt>tCt	p.C46S	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	46						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C46S(1)		breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATCCCTTTTTGTCTCCTATAT	0.478																																						uc010qyn.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(136-138)TGT>TCT		olfactory receptor, family 51, subfamily F,							270.0	268.0	268.0					11																	4842752		2201	4298	6499	SO:0001583	missense	119694				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4842752G>C	BK004281	CCDS31361.1	11p15.4	2012-08-09			ENSG00000176925	ENSG00000176925		"""GPCR / Class A : Olfactory receptors"""	15197	protein-coding gene	gene with protein product							Standard	NM_001004753		Approved		uc010qyn.2	Q8NH61	OTTHUMG00000066508	ENST00000322110.5:c.137G>C	11.37:g.4842752G>C	ENSP00000323952:p.Cys46Ser						p.C46S	NM_001004753	NP_001004753	Q8NH61	O51F2_HUMAN		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	137	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)	46			Helical; Name=1; (Potential).		Q6IFI1	Missense_Mutation	SNP	ENST00000322110.5	37	c.137G>C	CCDS31361.1	.	.	.	.	.	.	.	.	.	.	G	9.150	1.016077	0.19355	.	.	ENSG00000176925	ENST00000322110	T	0.02944	4.1	4.6	2.68	0.31781	.	0.000000	0.44483	U	0.000455	T	0.06735	0.0172	L	0.41710	1.295	0.09310	N	1	D	0.67145	0.996	D	0.67900	0.954	T	0.13072	-1.0523	10	0.54805	T	0.06	.	6.2081	0.20613	0.1651:0.1679:0.667:0.0	.	46	Q8NH61	O51F2_HUMAN	S	46	ENSP00000323952:C46S	ENSP00000323952:C46S	C	+	2	0	OR51F2	4799328	0.075000	0.21258	0.197000	0.23402	0.119000	0.20118	1.979000	0.40608	1.260000	0.44134	0.561000	0.74099	TGT		PASS	0.478	OR51F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142181.1	NM_001004753		178	485	178	485	---	---	---	---
OR51M1	390059	broad.mit.edu	37	11	5411101	5411101	+	Missense_Mutation	SNP	T	T	C			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr11:5411101T>C	ENST00000328611.3	+	1	495	c.473T>C	c.(472-474)cTa>cCa	p.L158P	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004756.2	NP_001004756.2	Q9H341	O51M1_HUMAN	olfactory receptor, family 51, subfamily M, member 1	158					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L158P(1)		NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGAGCAGGCCTAATTGTCATC	0.537																																						uc010qzc.1																			1	Substitution - Missense(1)		lung(1)		0						c.(472-474)CTA>CCA		olfactory receptor, family 51, subfamily M,							217.0	210.0	212.0					11																	5411101		2036	4210	6246	SO:0001583	missense	390059					integral to membrane	olfactory receptor activity	g.chr11:5411101T>C	BK004382	CCDS53596.1	11p15.4	2012-08-09			ENSG00000184698	ENSG00000184698		"""GPCR / Class A : Olfactory receptors"""	14847	protein-coding gene	gene with protein product							Standard	NM_001004756		Approved		uc010qzc.2	Q9H341	OTTHUMG00000066680	ENST00000328611.3:c.473T>C	11.37:g.5411101T>C	ENSP00000333196:p.Leu158Pro					HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	p.L158P	NM_001004756	NP_001004756	B2RNI9	B2RNI9_HUMAN		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	473	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	158					Q6IF80	Missense_Mutation	SNP	ENST00000328611.3	37	c.473T>C	CCDS53596.1	.	.	.	.	.	.	.	.	.	.	T	14.33	2.502336	0.44455	.	.	ENSG00000184698	ENST00000328611	T	0.14022	2.54	4.93	4.93	0.64822	GPCR, rhodopsin-like superfamily (1);	0.784935	0.09901	U	0.741057	T	0.50394	0.1613	H	0.94306	3.52	0.26800	N	0.969218	D	0.69078	0.997	D	0.72982	0.979	T	0.50030	-0.8875	10	0.72032	D	0.01	.	13.573	0.61858	0.0:0.0:0.0:1.0	.	147	Q9H341	O51M1_HUMAN	P	158	ENSP00000333196:L158P	ENSP00000333196:L158P	L	+	2	0	OR51M1	5367677	0.258000	0.24033	0.005000	0.12908	0.256000	0.26092	2.761000	0.47589	2.070000	0.61991	0.533000	0.62120	CTA		PASS	0.537	OR51M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142981.1	NM_001004756		5	631	5	631	---	---	---	---
OR51I1	390063	broad.mit.edu	37	11	5462437	5462437	+	Missense_Mutation	SNP	A	A	T			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr11:5462437A>T	ENST00000380211.1	-	1	307	c.308T>A	c.(307-309)aTg>aAg	p.M103K	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001005288.2	NP_001005288.1	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I, member 1	103					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M103K(1)		central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GATGAAGAACATCTGGACCAG	0.448																																						uc010qze.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(307-309)ATG>AAG		olfactory receptor, family 51, subfamily I,							143.0	124.0	130.0					11																	5462437		2201	4297	6498	SO:0001583	missense	390063				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5462437A>T	BK004429	CCDS31382.1	11p15.4	2012-08-09			ENSG00000167359	ENSG00000167359		"""GPCR / Class A : Olfactory receptors"""	15200	protein-coding gene	gene with protein product							Standard	NM_001005288		Approved		uc010qze.2	Q9H343	OTTHUMG00000066908	ENST00000380211.1:c.308T>A	11.37:g.5462437A>T	ENSP00000369559:p.Met103Lys					HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	p.M103K	NM_001005288	NP_001005288	Q9H343	O51I1_HUMAN		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	308	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	103			Helical; Name=3; (Potential).		B9EKW2|Q6IF33	Missense_Mutation	SNP	ENST00000380211.1	37	c.308T>A	CCDS31382.1	.	.	.	.	.	.	.	.	.	.	A	17.69	3.450886	0.63290	.	.	ENSG00000167359	ENST00000317283;ENST00000321307;ENST00000380211	T	0.02787	4.16	5.64	5.64	0.86602	GPCR, rhodopsin-like superfamily (1);	0.088302	0.49305	D	0.000153	T	0.22475	0.0542	H	0.95539	3.685	0.36634	D	0.876458	D	0.55800	0.973	D	0.64042	0.921	T	0.43196	-0.9406	10	0.87932	D	0	.	14.8201	0.70065	1.0:0.0:0.0:0.0	.	103	Q9H343	O51I1_HUMAN	K	88;100;103	ENSP00000369559:M103K	ENSP00000348350:M88K	M	-	2	0	OR51I1	5419013	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	2.798000	0.47884	2.169000	0.68431	0.450000	0.29827	ATG		PASS	0.448	OR51I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143399.1	NM_001005288		38	91	38	91	---	---	---	---
OR51I1	390063	broad.mit.edu	37	11	5462447	5462447	+	Silent	SNP	G	G	A			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr11:5462447G>A	ENST00000380211.1	-	1	297	c.298C>T	c.(298-300)Ctg>Ttg	p.L100L	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001005288.2	NP_001005288.1	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I, member 1	100					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L100L(1)		central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATCTGGACCAGGCAAGCATTA	0.453																																						uc010qze.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(298-300)CTG>TTG		olfactory receptor, family 51, subfamily I,							140.0	123.0	129.0					11																	5462447		2201	4297	6498	SO:0001819	synonymous_variant	390063				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5462447G>A	BK004429	CCDS31382.1	11p15.4	2012-08-09			ENSG00000167359	ENSG00000167359		"""GPCR / Class A : Olfactory receptors"""	15200	protein-coding gene	gene with protein product							Standard	NM_001005288		Approved		uc010qze.2	Q9H343	OTTHUMG00000066908	ENST00000380211.1:c.298C>T	11.37:g.5462447G>A						HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	p.L100L	NM_001005288	NP_001005288	Q9H343	O51I1_HUMAN		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	298	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	100			Extracellular (Potential).		B9EKW2|Q6IF33	Silent	SNP	ENST00000380211.1	37	c.298C>T	CCDS31382.1																																																																																				PASS	0.453	OR51I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143399.1	NM_001005288		48	85	48	85	---	---	---	---
LDHC	3948	broad.mit.edu	37	11	18467792	18467792	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr11:18467792C>T	ENST00000541669.1	+	7	857	c.746C>T	c.(745-747)tCt>tTt	p.S249F	LDHC_ENST00000544105.1_Intron|LDHC_ENST00000537486.1_Intron|LDHC_ENST00000535809.1_Intron|LDHC_ENST00000280704.4_Missense_Mutation_p.S249F|LDHC_ENST00000546146.1_Intron|LDHC_ENST00000536880.1_Missense_Mutation_p.S235F			P07864	LDHC_HUMAN	lactate dehydrogenase C	249					ATP biosynthetic process (GO:0006754)|cellular carbohydrate metabolic process (GO:0044262)|lactate biosynthetic process from pyruvate (GO:0019244)|lactate oxidation (GO:0019516)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|motile cilium (GO:0031514)|nucleus (GO:0005634)	L-lactate dehydrogenase activity (GO:0004459)	p.S249F(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GGGTATACCTCTTGGGCTATT	0.373																																						uc001mon.3																			1	Substitution - Missense(1)		lung(1)		0						c.(745-747)TCT>TTT		L-lactate dehydrogenase C	NADH(DB00157)						180.0	177.0	178.0					11																	18467792		2199	4293	6492	SO:0001583	missense	3948				glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity	g.chr11:18467792C>T	AY286300	CCDS7840.1	11p15.1	2012-10-02			ENSG00000166796	ENSG00000166796	1.1.1.27		6544	protein-coding gene	gene with protein product	"""cancer/testis antigen 32"""	150150					Standard	NM_002301		Approved	CT32	uc001mom.4	P07864	OTTHUMG00000167722	ENST00000541669.1:c.746C>T	11.37:g.18467792C>T	ENSP00000437783:p.Ser249Phe					LDHC_uc001mom.3_Missense_Mutation_p.S249F|LDHC_uc009yhp.2_Intron|LDHC_uc001moo.3_Missense_Mutation_p.S133F|LDHC_uc009yhq.2_RNA|LDHC_uc009yhr.2_Intron	p.S249F	NM_017448	NP_059144	P07864	LDHC_HUMAN			7	858	+			249					D3DQY4|Q6GSG8|Q7Z7J4	Missense_Mutation	SNP	ENST00000541669.1	37	c.746C>T	CCDS7840.1	.	.	.	.	.	.	.	.	.	.	C	16.93	3.258405	0.59321	.	.	ENSG00000166796	ENST00000541669;ENST00000280704;ENST00000536880	T;T;T	0.66280	-0.2;-0.2;-0.2	4.78	3.84	0.44239	Lactate/malate dehydrogenase, C-terminal (1);Lactate dehydrogenase/glycoside hydrolase, family 4, C-terminal (2);	0.131066	0.53938	D	0.000050	T	0.72637	0.3485	L	0.56199	1.76	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.74256	-0.3724	10	0.66056	D	0.02	-2.0356	11.4094	0.49917	0.1813:0.8187:0.0:0.0	.	249	P07864	LDHC_HUMAN	F	249;249;235	ENSP00000437783:S249F;ENSP00000280704:S249F;ENSP00000439555:S235F	ENSP00000280704:S249F	S	+	2	0	LDHC	18424368	0.918000	0.31147	0.999000	0.59377	0.993000	0.82548	2.463000	0.45058	1.187000	0.43000	0.484000	0.47621	TCT		PASS	0.373	LDHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395892.1	NM_017448		96	282	96	282	---	---	---	---
OR5D13	390142	broad.mit.edu	37	11	55541396	55541396	+	Silent	SNP	C	C	A			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr11:55541396C>A	ENST00000361760.1	+	1	483	c.483C>A	c.(481-483)ctC>ctA	p.L161L		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	161						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L161L(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				CCCTGATACTCACATATTTTC	0.413																																						uc010ril.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(481-483)CTC>CTA		olfactory receptor, family 5, subfamily D,							163.0	160.0	161.0					11																	55541396		2200	4296	6496	SO:0001819	synonymous_variant	390142				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55541396C>A	BK004394	CCDS31507.1	11q11	2012-08-09			ENSG00000198877	ENSG00000198877		"""GPCR / Class A : Olfactory receptors"""	15280	protein-coding gene	gene with protein product							Standard	NM_001001967		Approved		uc010ril.2	Q8NGL4	OTTHUMG00000166807	ENST00000361760.1:c.483C>A	11.37:g.55541396C>A							p.L161L	NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN			1	483	+		all_epithelial(135;0.196)	161			Helical; Name=4; (Potential).		Q6IF68|Q6IFC9	Silent	SNP	ENST00000361760.1	37	c.483C>A	CCDS31507.1																																																																																				PASS	0.413	OR5D13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391511.1	NM_001001967		102	271	102	271	---	---	---	---
OR5L2	26338	broad.mit.edu	37	11	55594807	55594807	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr11:55594807C>T	ENST00000378397.1	+	1	113	c.113C>T	c.(112-114)aCg>aTg	p.T38M		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	38						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T38M(2)		breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				TATGGAGTCACGTTGTTAGCC	0.502										HNSCC(27;0.073)																												uc001nhy.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(112-114)ACG>ATG		olfactory receptor, family 5, subfamily L,							299.0	263.0	275.0					11																	55594807		2200	4296	6496	SO:0001583	missense	26338				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55594807C>T	AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"""GPCR / Class A : Olfactory receptors"""	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.113C>T	11.37:g.55594807C>T	ENSP00000367650:p.Thr38Met	HNSCC(27;0.073)					p.T38M	NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN			1	113	+		all_epithelial(135;0.208)	38			Helical; Name=1; (Potential).		Q6IF66|Q96RB2	Missense_Mutation	SNP	ENST00000378397.1	37	c.113C>T	CCDS31511.1	.	.	.	.	.	.	.	.	.	.	.	12.24	1.879277	0.33162	.	.	ENSG00000205030	ENST00000378397	T	0.00504	6.94	5.31	5.31	0.75309	.	0.000000	0.50627	D	0.000111	T	0.02380	0.0073	M	0.93763	3.455	0.35740	D	0.81862	D	0.89917	1.0	D	0.64237	0.923	T	0.04268	-1.0964	10	0.87932	D	0	-20.2856	12.525	0.56081	0.0:0.9185:0.0:0.0815	.	38	Q8NGL0	OR5L2_HUMAN	M	38	ENSP00000367650:T38M	ENSP00000367650:T38M	T	+	2	0	OR5L2	55351383	0.864000	0.29904	0.960000	0.40013	0.379000	0.30106	2.479000	0.45197	2.691000	0.91804	0.626000	0.83405	ACG		PASS	0.502	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391516.1	NM_001004739		165	431	165	431	---	---	---	---
OR8H2	390151	broad.mit.edu	37	11	55873016	55873016	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr11:55873016G>T	ENST00000313503.1	+	1	498	c.498G>T	c.(496-498)ttG>ttT	p.L166F		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	166						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L166F(2)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					TGAGCAGATTGCATTTCTACG	0.423										HNSCC(53;0.14)																												uc010riy.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(496-498)TTG>TTT		olfactory receptor, family 8, subfamily H,							254.0	228.0	237.0					11																	55873016		2201	4296	6497	SO:0001583	missense	390151				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55873016G>T	AB065657	CCDS31518.1	11q11	2012-08-09			ENSG00000181767	ENSG00000181767		"""GPCR / Class A : Olfactory receptors"""	15308	protein-coding gene	gene with protein product							Standard	NM_001005200		Approved		uc010riy.2	Q8N162	OTTHUMG00000166832	ENST00000313503.1:c.498G>T	11.37:g.55873016G>T	ENSP00000323982:p.Leu166Phe	HNSCC(53;0.14)					p.L166F	NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN			1	498	+	Esophageal squamous(21;0.00693)		166			Extracellular (Potential).		Q6IFC1	Missense_Mutation	SNP	ENST00000313503.1	37	c.498G>T	CCDS31518.1	.	.	.	.	.	.	.	.	.	.	g	13.54	2.267806	0.40095	.	.	ENSG00000181767	ENST00000313503	T	0.00253	8.43	3.35	-1.64	0.08318	GPCR, rhodopsin-like superfamily (1);	0.172224	0.27539	N	0.018915	T	0.00356	0.0011	M	0.75884	2.315	0.09310	N	1	D	0.67145	0.996	D	0.72625	0.978	T	0.51276	-0.8726	10	0.66056	D	0.02	.	3.9229	0.09251	0.0767:0.2153:0.3988:0.3092	.	166	Q8N162	OR8H2_HUMAN	F	166	ENSP00000323982:L166F	ENSP00000323982:L166F	L	+	3	2	OR8H2	55629592	0.000000	0.05858	0.001000	0.08648	0.078000	0.17371	-0.120000	0.10660	-0.427000	0.07350	0.440000	0.28878	TTG		PASS	0.423	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391540.1	NM_001005200		5	320	5	320	---	---	---	---
OR5R1	219479	broad.mit.edu	37	11	56185240	56185240	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr11:56185240G>A	ENST00000312253.1	-	1	468	c.469C>T	c.(469-471)Ctc>Ttc	p.L157F		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	157						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L157F(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					GTGTGGAAGAGGGCAACCAGG	0.458																																						uc010rji.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(469-471)CTC>TTC		olfactory receptor, family 5, subfamily R,							113.0	114.0	113.0					11																	56185240		2201	4296	6497	SO:0001583	missense	219479				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56185240G>A	AB065504	CCDS31530.1	11q11	2012-08-09		2004-03-10	ENSG00000174942	ENSG00000174942		"""GPCR / Class A : Olfactory receptors"""	14841	protein-coding gene	gene with protein product				OR5R1P			Standard	NM_001004744		Approved		uc010rji.2	Q8NH85	OTTHUMG00000154219	ENST00000312253.1:c.469C>T	11.37:g.56185240G>A	ENSP00000308595:p.Leu157Phe						p.L157F	NM_001004744	NP_001004744	Q8NH85	OR5R1_HUMAN			1	469	-	Esophageal squamous(21;0.00448)		157			Helical; Name=4; (Potential).			Missense_Mutation	SNP	ENST00000312253.1	37	c.469C>T	CCDS31530.1	.	.	.	.	.	.	.	.	.	.	G	10.25	1.297276	0.23650	.	.	ENSG00000174942	ENST00000312253	T	0.00274	8.35	5.72	0.49	0.16861	GPCR, rhodopsin-like superfamily (1);	0.000000	0.26796	U	0.022441	T	0.00271	0.0008	M	0.68317	2.08	0.09310	N	1	P	0.37141	0.584	P	0.44772	0.46	T	0.37197	-0.9716	10	0.56958	D	0.05	-10.8123	3.4923	0.07642	0.139:0.1023:0.4976:0.2611	.	157	Q8NH85	OR5R1_HUMAN	F	157	ENSP00000308595:L157F	ENSP00000308595:L157F	L	-	1	0	OR5R1	55941816	0.000000	0.05858	0.034000	0.17996	0.040000	0.13550	-0.952000	0.03881	0.758000	0.33059	-0.206000	0.12725	CTC		PASS	0.458	OR5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334444.1	NM_001004744		59	179	59	179	---	---	---	---
OR10W1	81341	broad.mit.edu	37	11	58035120	58035120	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr11:58035120G>T	ENST00000395079.2	-	1	612	c.211C>A	c.(211-213)Cat>Aat	p.H71N		NM_207374.3	NP_997257.2	Q8NGF6	O10W1_HUMAN	olfactory receptor, family 10, subfamily W, member 1	71						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H71N(1)		kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				GCCAGGATATGGGGCACCACC	0.512																																						uc001nmq.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(211-213)CAT>AAT		olfactory receptor, family 10, subfamily W,							97.0	86.0	90.0					11																	58035120		2201	4295	6496	SO:0001583	missense	81341				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58035120G>T	AB065850	CCDS7968.1	11q12.1	2012-08-09	2004-03-04	2004-03-05		ENSG00000172772		"""GPCR / Class A : Olfactory receptors"""	15139	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily W, member 1 pseudogene"""	OR10W1P			Standard	NM_207374		Approved		uc001nmq.1	Q8NGF6		ENST00000395079.2:c.211C>A	11.37:g.58035120G>T	ENSP00000378516:p.His71Asn						p.H71N	NM_207374	NP_997257	Q8NGF6	O10W1_HUMAN			1	613	-		Breast(21;0.0589)	71			Extracellular (Potential).		A2RUD2|A8MTE1|Q6UXQ2	Missense_Mutation	SNP	ENST00000395079.2	37	c.211C>A	CCDS7968.1	.	.	.	.	.	.	.	.	.	.	G	11.42	1.632793	0.29068	.	.	ENSG00000172772	ENST00000395079	T	0.00382	7.61	4.97	3.04	0.35103	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000068	T	0.00109	0.0003	N	0.01482	-0.84	0.09310	N	1	B	0.26744	0.158	B	0.17433	0.018	T	0.38824	-0.9643	10	0.51188	T	0.08	.	7.8502	0.29451	0.0771:0.0:0.5443:0.3786	.	71	Q8NGF6	O10W1_HUMAN	N	71	ENSP00000378516:H71N	ENSP00000378516:H71N	H	-	1	0	OR10W1	57791696	0.000000	0.05858	0.127000	0.21898	0.971000	0.66376	0.509000	0.22707	1.311000	0.45024	0.655000	0.94253	CAT		PASS	0.512	OR10W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394704.1	NM_207374		42	123	42	123	---	---	---	---
OR5B21	219968	broad.mit.edu	37	11	58274929	58274929	+	Missense_Mutation	SNP	A	A	T			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr11:58274929A>T	ENST00000360374.2	-	1	649	c.650T>A	c.(649-651)tTc>tAc	p.F217Y		NM_001005218.1	NP_001005218.1	A6NL26	OR5BL_HUMAN	olfactory receptor, family 5, subfamily B, member 21	217						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F217Y(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GATGCATATGAAGAAGTAAGA	0.478																																						uc010rki.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(649-651)TTC>TAC		olfactory receptor, family 5, subfamily B,							66.0	65.0	65.0					11																	58274929		2201	4295	6496	SO:0001583	missense	219968				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58274929A>T		CCDS31552.1	11q12.1	2012-08-09			ENSG00000198283	ENSG00000198283		"""GPCR / Class A : Olfactory receptors"""	19616	protein-coding gene	gene with protein product							Standard	NM_001005218		Approved		uc010rki.2	A6NL26	OTTHUMG00000167519	ENST00000360374.2:c.650T>A	11.37:g.58274929A>T	ENSP00000353537:p.Phe217Tyr						p.F217Y	NM_001005218	NP_001005218	A6NL26	OR5BL_HUMAN			1	650	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	217			Helical; Name=5; (Potential).			Missense_Mutation	SNP	ENST00000360374.2	37	c.650T>A	CCDS31552.1	.	.	.	.	.	.	.	.	.	.	A	13.00	2.106635	0.37145	.	.	ENSG00000198283	ENST00000360374	T	0.00130	8.69	5.35	5.35	0.76521	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38837	U	0.001544	T	0.00241	0.0007	L	0.28694	0.88	0.09310	N	1	D	0.61080	0.989	D	0.66497	0.944	T	0.68443	-0.5407	10	0.26408	T	0.33	-16.114	10.1953	0.43051	0.8511:0.0:0.0:0.1489	.	217	A6NL26	OR5BL_HUMAN	Y	217	ENSP00000353537:F217Y	ENSP00000353537:F217Y	F	-	2	0	OR5B21	58031505	0.000000	0.05858	0.522000	0.27862	0.557000	0.35523	-0.738000	0.04871	2.248000	0.74166	0.533000	0.62120	TTC		PASS	0.478	OR5B21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394891.1	NM_001005218		25	69	25	69	---	---	---	---
OR10V1	390201	broad.mit.edu	37	11	59480685	59480685	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr11:59480685G>A	ENST00000307552.2	-	1	652	c.634C>T	c.(634-636)Ctc>Ttc	p.L212F	STX3_ENST00000300150.7_5'Flank	NM_001005324.1	NP_001005324.1	Q8NGI7	O10V1_HUMAN	olfactory receptor, family 10, subfamily V, member 1	212						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L212F(1)		endometrium(1)|large_intestine(3)|liver(1)|lung(10)|skin(1)	16						ATCAATGAGAGGGGGATGCTA	0.522																																						uc001nof.1																			1	Substitution - Missense(1)		lung(1)		0						c.(634-636)CTC>TTC		olfactory receptor, family 10, subfamily V,							106.0	90.0	95.0					11																	59480685		2201	4295	6496	SO:0001583	missense	390201				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59480685G>A	AB065807	CCDS31565.1	11q12.1	2012-08-09			ENSG00000172289	ENSG00000172289		"""GPCR / Class A : Olfactory receptors"""	15136	protein-coding gene	gene with protein product							Standard	NM_001005324		Approved		uc001nof.1	Q8NGI7	OTTHUMG00000167406	ENST00000307552.2:c.634C>T	11.37:g.59480685G>A	ENSP00000302199:p.Leu212Phe						p.L212F	NM_001005324	NP_001005324	Q8NGI7	O10V1_HUMAN			1	634	-			212			Helical; Name=5; (Potential).		Q6IFD9|Q96R50	Missense_Mutation	SNP	ENST00000307552.2	37	c.634C>T	CCDS31565.1	.	.	.	.	.	.	.	.	.	.	G	2.003	-0.428869	0.04701	.	.	ENSG00000172289	ENST00000307552	T	0.40476	1.03	4.47	4.47	0.54385	GPCR, rhodopsin-like superfamily (1);	0.313802	0.23151	N	0.051348	T	0.13457	0.0326	N	0.00738	-1.235	0.31951	N	0.609686	B	0.12013	0.005	B	0.14023	0.01	T	0.07462	-1.0771	10	0.02654	T	1	.	15.2075	0.73190	0.0:0.0:1.0:0.0	.	212	Q8NGI7	O10V1_HUMAN	F	212	ENSP00000302199:L212F	ENSP00000302199:L212F	L	-	1	0	OR10V1	59237261	0.002000	0.14202	0.996000	0.52242	0.939000	0.58152	0.112000	0.15479	2.507000	0.84556	0.543000	0.68304	CTC		PASS	0.522	OR10V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394517.1	NM_001005324		39	117	39	117	---	---	---	---
TCN1	6947	broad.mit.edu	37	11	59631502	59631502	+	Nonsense_Mutation	SNP	G	G	T			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr11:59631502G>T	ENST00000257264.3	-	2	241	c.137C>A	c.(136-138)tCa>tAa	p.S46*	TCN1_ENST00000532419.1_5'UTR	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	46	Globular N-terminal alpha domain.				cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cobalamin binding (GO:0031419)	p.S46*(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GTTATAGTTTGACTGGATCAT	0.413																																						uc001noj.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(136-138)TCA>TAA		transcobalamin I precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						233.0	224.0	227.0					11																	59631502		2201	4294	6495	SO:0001587	stop_gained	6947				cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding	g.chr11:59631502G>T	J05068	CCDS7978.1	11q11-q12	2008-07-21			ENSG00000134827	ENSG00000134827			11652	protein-coding gene	gene with protein product	"""haptocorin"", ""haptocorrin"""	189905					Standard	NM_001062		Approved	TCI, TC1	uc001noj.2	P20061	OTTHUMG00000167400	ENST00000257264.3:c.137C>A	11.37:g.59631502G>T	ENSP00000257264:p.Ser46*						p.S46*	NM_001062	NP_001053	P20061	TCO1_HUMAN			2	235	-		all_epithelial(135;0.198)	46					A8KAC5|Q8WV77	Nonsense_Mutation	SNP	ENST00000257264.3	37	c.137C>A	CCDS7978.1	.	.	.	.	.	.	.	.	.	.	G	19.71	3.877488	0.72294	.	.	ENSG00000134827	ENST00000257264	.	.	.	4.54	4.54	0.55810	.	0.159603	0.29321	N	0.012492	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.5102	0.61508	0.0:0.0:1.0:0.0	.	.	.	.	X	46	.	ENSP00000257264:S46X	S	-	2	0	TCN1	59388078	0.483000	0.25956	0.033000	0.17914	0.005000	0.04900	1.653000	0.37323	2.462000	0.83206	0.655000	0.94253	TCA		PASS	0.413	TCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394503.1	NM_001062		41	410	41	410	---	---	---	---
MS4A14	84689	broad.mit.edu	37	11	60164080	60164081	+	Missense_Mutation	DNP	CA	CA	AT			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr11:60164080_60164081CA>AT	ENST00000300187.6	+	1	306_307	c.29_30CA>AT	c.(28-30)gCA>gAT	p.A10D	MS4A14_ENST00000395005.2_Missense_Mutation_p.A10D|MS4A14_ENST00000531783.1_Missense_Mutation_p.A10D|MS4A14_ENST00000395001.1_5'UTR|MS4A14_ENST00000531787.1_Intron	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	10						integral component of membrane (GO:0016021)		p.A10D(1)|p.A10E(1)|p.A10A(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						GACAGAAGGGCAACTCACGTCA	0.46																																						uc001npj.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	breast(1)	1						c.(28-30)GCA>GAA|c.(28-30)GCA>GCT		membrane-spanning 4-domains, subfamily A, member																																				SO:0001583	missense	84689					integral to membrane	receptor activity	g.chr11:60164080C>A|g.chr11:60164081A>T	AY584610	CCDS31569.1, CCDS41652.1, CCDS58136.1, CCDS73295.1	11q12.2	2008-04-10	2008-04-10	2008-04-10		ENSG00000166928			30706	protein-coding gene	gene with protein product			"""membrane-spanning 4-domains, subfamily A, member 16"""	MS4A16			Standard	NM_032597		Approved	NYD-SP21, FLJ32856, DKFZp434H092	uc031qbd.1	Q96JA4		Exception_encountered	11.37:g.60164080_60164081delinsAT	ENSP00000300187:p.Ala10Asp					MS4A14_uc001npi.2_Intron|MS4A14_uc001npn.2_5'UTR|MS4A14_uc001npk.2_Missense_Mutation_p.A10E|MS4A14_uc001npl.2_5'UTR|MS4A14_uc001npm.2_5'UTR|MS4A14_uc001npi.2_Intron|MS4A14_uc001npn.2_5'UTR|MS4A14_uc001npk.2_Silent_p.A10A|MS4A14_uc001npl.2_5'UTR|MS4A14_uc001npm.2_5'UTR	p.A10E|p.A10A	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN			1	594|595	+			10					E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Missense_Mutation|Silent	SNP	ENST00000300187.6	37	c.29C>A|c.30A>T	CCDS31569.1																																																																																				PASS	0.460	MS4A14-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395383.2			21	65|66	21	65	---	---	---	---
SLC3A2	6520	broad.mit.edu	37	11	62656110	62656110	+	Missense_Mutation	SNP	G	G	C	rs374261898		TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr11:62656110G>C	ENST00000377890.2	+	12	2006	c.1838G>C	c.(1837-1839)cGc>cCc	p.R613P	SLC3A2_ENST00000338663.7_Missense_Mutation_p.R512P|SLC3A2_ENST00000377891.2_Missense_Mutation_p.R614P|SLC3A2_ENST00000377892.1_Missense_Mutation_p.R644P|SLC3A2_ENST00000536981.1_Missense_Mutation_p.R158P|SLC3A2_ENST00000377889.2_Missense_Mutation_p.R551P|SLC3A2_ENST00000535296.1_Missense_Mutation_p.R582P	NM_002394.5	NP_002385.3	P08195	4F2_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 2	613					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|carbohydrate metabolic process (GO:0005975)|cell growth (GO:0016049)|ion transport (GO:0006811)|leucine import (GO:0060356)|leukocyte migration (GO:0050900)|response to exogenous dsRNA (GO:0043330)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|tryptophan transport (GO:0015827)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|double-stranded RNA binding (GO:0003725)|neutral amino acid transmembrane transporter activity (GO:0015175)|poly(A) RNA binding (GO:0044822)	p.R644P(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						GAGCTGGAACGCCTGAAACTG	0.657																																						uc001nwd.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1837-1839)CGC>CCC		solute carrier family 3, member 2 isoform c							44.0	46.0	45.0					11																	62656110		2201	4298	6499	SO:0001583	missense	6520				blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport	apical plasma membrane|cell surface|integral to membrane|melanosome	calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding	g.chr11:62656110G>C		CCDS8039.2, CCDS31588.1, CCDS31589.1, CCDS31590.1	11q12-q22	2013-07-19	2013-07-19		ENSG00000168003	ENSG00000168003		"""Solute carriers"""	11026	protein-coding gene	gene with protein product	"""antigen identified by monoclonal antibodies 4F2, TRA1.10, TROP4, and T43"", ""antigen defined by monoclonal antibody 4F2"", ""heavy chain"", ""4F2 heavy chain"", ""CD98 heavy chain"", ""monoclonal antibody 44D7"", ""4F2 cell-surface antigen heavy chain"", ""lymphocyte activation antigen 4F2 large subunit"""	158070	"""solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2"""	MDU1		3036867	Standard	NM_001012662		Approved	4T2HC, 4F2, NACAE, CD98, CD98HC, 4F2HC	uc001nwd.3	P08195	OTTHUMG00000074091	ENST00000377890.2:c.1838G>C	11.37:g.62656110G>C	ENSP00000367122:p.Arg613Pro					SLC3A2_uc001nwb.2_Missense_Mutation_p.R644P|SLC3A2_uc001nwc.2_Missense_Mutation_p.R614P|SLC3A2_uc001nwe.2_Missense_Mutation_p.R582P|SLC3A2_uc001nwf.2_Missense_Mutation_p.R551P|SLC3A2_uc001nwg.2_Missense_Mutation_p.R512P	p.R613P	NM_002394	NP_002385	P08195	4F2_HUMAN			12	2062	+			613			Extracellular (Potential).		Q13543	Missense_Mutation	SNP	ENST00000377890.2	37	c.1838G>C	CCDS8039.2	.	.	.	.	.	.	.	.	.	.	G	10.34	1.323269	0.24080	.	.	ENSG00000168003	ENST00000377892;ENST00000377891;ENST00000377890;ENST00000542007;ENST00000377889;ENST00000535296;ENST00000338663;ENST00000422606;ENST00000536981	D;D;D;D;D;D;D	0.98345	-4.86;-4.87;-4.88;-4.86;-4.86;-4.86;-3.6	5.17	-1.8	0.07907	Glycosyl hydrolase, family 13, all-beta (1);	1.203320	0.05610	N	0.577988	D	0.93916	0.8053	N	0.19112	0.55	0.09310	N	1	P;P;P;P;P	0.39216	0.603;0.664;0.533;0.515;0.526	B;B;B;B;B	0.37731	0.098;0.257;0.131;0.19;0.257	D	0.90641	0.4575	10	0.33940	T	0.23	-0.2376	5.0932	0.14720	0.3797:0.2953:0.325:0.0	.	551;582;613;512;644	P08195-3;F5GZS6;P08195;P08195-2;P08195-4	.;.;4F2_HUMAN;.;.	P	644;614;613;614;551;582;512;494;158	ENSP00000367124:R644P;ENSP00000367123:R614P;ENSP00000367122:R613P;ENSP00000367121:R551P;ENSP00000444236:R582P;ENSP00000340815:R512P;ENSP00000444439:R158P	ENSP00000340815:R512P	R	+	2	0	SLC3A2	62412686	0.000000	0.05858	0.001000	0.08648	0.623000	0.37688	0.201000	0.17276	-0.236000	0.09753	-1.319000	0.01295	CGC		PASS	0.657	SLC3A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000157306.1	NM_001012661		66	187	66	187	---	---	---	---
KAT5	10524	broad.mit.edu	37	11	65482308	65482308	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr11:65482308G>T	ENST00000377046.3	+	9	1129	c.857G>T	c.(856-858)cGa>cTa	p.R286L	KAT5_ENST00000341318.4_Missense_Mutation_p.R319L|KAT5_ENST00000352980.4_Missense_Mutation_p.R234L|KAT5_ENST00000534650.1_Missense_Mutation_p.R75L|KAT5_ENST00000530446.1_Missense_Mutation_p.R267L	NM_006388.3	NP_006379.2	Q92993	KAT5_HUMAN	K(lysine) acetyltransferase 5	286	MYST-type HAT.				androgen receptor signaling pathway (GO:0030521)|cellular response to estradiol stimulus (GO:0071392)|chromatin organization (GO:0006325)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|double-strand break repair (GO:0006302)|histone acetylation (GO:0016573)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of growth (GO:0040008)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)|Swr1 complex (GO:0000812)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|repressing transcription factor binding (GO:0070491)|transcription coactivator activity (GO:0003713)	p.R319L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						TGTGACCTACGACATCCTCCA	0.542																																						uc001ofi.2																			1	Substitution - Missense(1)		lung(1)		0						c.(856-858)CGA>CTA		K(lysine) acetyltransferase 5 isoform 2							181.0	145.0	157.0					11																	65482308		2201	4297	6498	SO:0001583	missense	10524				androgen receptor signaling pathway|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm|Piccolo NuA4 histone acetyltransferase complex	androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity	g.chr11:65482308G>T	U74667	CCDS8109.1, CCDS8110.1, CCDS31610.1, CCDS55771.1	11q13	2013-01-10	2008-07-04	2008-07-04	ENSG00000172977	ENSG00000172977		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"""	5275	protein-coding gene	gene with protein product	"""Tat interacting protein, 60kDa"", ""K-acetyltransferase 5"""	601409	"""HIV-1 Tat interactive protein, 60kDa"""	HTATIP		8607265	Standard	NM_006388		Approved	TIP60, PLIP, cPLA2, HTATIP1, ESA1, ZC2HC5	uc001ofk.3	Q92993	OTTHUMG00000166617	ENST00000377046.3:c.857G>T	11.37:g.65482308G>T	ENSP00000366245:p.Arg286Leu					KAT5_uc001ofj.2_Missense_Mutation_p.R234L|KAT5_uc001ofk.2_Missense_Mutation_p.R319L|KAT5_uc010roo.1_Missense_Mutation_p.R267L|KAT5_uc001ofl.2_Missense_Mutation_p.R75L	p.R286L	NM_006388	NP_006379	Q92993	KAT5_HUMAN			9	1107	+			286					B4E3C7|C9JL99|O95624|Q13430|Q17RW5|Q561W3|Q6GSE8|Q9BWK7	Missense_Mutation	SNP	ENST00000377046.3	37	c.857G>T	CCDS31610.1	.	.	.	.	.	.	.	.	.	.	G	17.21	3.332193	0.60853	.	.	ENSG00000172977	ENST00000377046;ENST00000352980;ENST00000341318;ENST00000530446;ENST00000534650	T;T;T;T	0.50001	0.77;0.8;0.76;0.79	4.96	4.96	0.65561	Acyl-CoA N-acyltransferase (1);MOZ/SAS-like protein (1);	0.000000	0.85682	D	0.000000	T	0.55257	0.1909	M	0.68317	2.08	0.80722	D	1	P;P;P;P	0.48640	0.725;0.889;0.678;0.913	B;B;B;P	0.48677	0.422;0.441;0.297;0.586	T	0.55611	-0.8114	10	0.38643	T	0.18	-6.3949	15.7443	0.77926	0.0:0.0:1.0:0.0	.	267;319;234;286	B4E3C7;Q92993-3;Q92993-2;Q92993	.;.;.;KAT5_HUMAN	L	286;234;319;267;75	ENSP00000366245:R286L;ENSP00000344955:R234L;ENSP00000340330:R319L;ENSP00000434765:R267L	ENSP00000340330:R319L	R	+	2	0	KAT5	65238884	1.000000	0.71417	0.965000	0.40720	0.668000	0.39293	4.246000	0.58740	2.564000	0.86499	0.561000	0.74099	CGA		PASS	0.542	KAT5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390866.2	NM_006388		121	320	121	320	---	---	---	---
CTSF	8722	broad.mit.edu	37	11	66333633	66333633	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr11:66333633C>T	ENST00000310325.5	-	6	836	c.727G>A	c.(727-729)Gag>Aag	p.E243K	ACTN3_ENST00000513398.1_RNA|ACTN3_ENST00000502692.1_RNA|CTSF_ENST00000533168.1_5'Flank	NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN	cathepsin F	243					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|vesicle (GO:0031982)	cysteine-type endopeptidase activity (GO:0004197)	p.E243K(1)		endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						GTGCGGAACTCCTCCTCTGCG	0.567																																						uc001oip.2																			1	Substitution - Missense(1)		lung(1)		0						c.(727-729)GAG>AAG		cathepsin F precursor							108.0	107.0	108.0					11																	66333633		2200	4295	6495	SO:0001583	missense	8722				proteolysis	lysosome	cysteine-type endopeptidase activity	g.chr11:66333633C>T	AF071749	CCDS8144.1	11q13.2	2012-02-29			ENSG00000174080	ENSG00000174080		"""Cathepsins"""	2531	protein-coding gene	gene with protein product		603539				9822672, 10318784	Standard	NM_003793		Approved	CATSF, CLN13	uc001oip.3	Q9UBX1	OTTHUMG00000167090	ENST00000310325.5:c.727G>A	11.37:g.66333633C>T	ENSP00000310832:p.Glu243Lys						p.E243K	NM_003793	NP_003784	Q9UBX1	CATF_HUMAN			6	817	-			243					B2R964|O95240|Q9NSU4|Q9UKQ5	Missense_Mutation	SNP	ENST00000310325.5	37	c.727G>A	CCDS8144.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.503731|5.503731	0.96371|0.96371	.|.	.|.	ENSG00000174080|ENSG00000174080	ENST00000310325|ENST00000524994	D|.	0.94758|.	-3.51|.	5.84|5.84	5.84|5.84	0.93424|0.93424	Proteinase inhibitor I29, cathepsin propeptide (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.89076|0.89076	0.6612|0.6612	H|H	0.98048|0.98048	4.135|4.135	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.92550|0.92550	0.6049|0.6049	10|5	0.87932|.	D|.	0|.	.|.	17.6404|17.6404	0.88135|0.88135	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	243|.	Q9UBX1|.	CATF_HUMAN|.	K|E	243|90	ENSP00000310832:E243K|.	ENSP00000310832:E243K|.	E|G	-|-	1|2	0|0	CTSF|CTSF	66090209|66090209	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.767000|0.767000	0.43475|0.43475	7.162000|7.162000	0.77515|0.77515	2.779000|2.779000	0.95612|0.95612	0.591000|0.591000	0.81541|0.81541	GAG|GGA		PASS	0.567	CTSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393047.1	NM_003793		20	448	20	448	---	---	---	---
CTTN	2017	broad.mit.edu	37	11	70281197	70281197	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr11:70281197G>C	ENST00000301843.8	+	18	1788	c.1582G>C	c.(1582-1584)Ggc>Cgc	p.G528R	CTTN_ENST00000346329.3_Missense_Mutation_p.G491R|CTTN_ENST00000538675.1_Missense_Mutation_p.G212R|CTTN_ENST00000376561.3_Missense_Mutation_p.G491R	NM_005231.3	NP_005222.2	Q14247	SRC8_HUMAN	cortactin	528	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitotic spindle midzone (GO:1990023)|ruffle (GO:0001726)		p.G528R(2)|p.G491R(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		GATTGACGACGGCTGGTGGCG	0.612																																						uc001opv.3																			3	Substitution - Missense(3)		lung(3)	ovary(1)	1						c.(1582-1584)GGC>CGC		cortactin isoform a							81.0	73.0	75.0					11																	70281197		2200	4294	6494	SO:0001583	missense	2017					cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding	g.chr11:70281197G>C	AJ288897	CCDS8197.1, CCDS41680.1, CCDS53676.1	11q13	2008-02-05	2004-06-08	2004-06-09	ENSG00000085733	ENSG00000085733			3338	protein-coding gene	gene with protein product		164765	"""ems1 sequence (mammary tumor and squamous cell carcinoma-associated (p80/85 src substrate)"""	EMS1		7685625	Standard	NM_005231		Approved		uc001opu.3	Q14247	OTTHUMG00000134307	ENST00000301843.8:c.1582G>C	11.37:g.70281197G>C	ENSP00000301843:p.Gly528Arg					CTTN_uc001opu.2_Missense_Mutation_p.G491R|CTTN_uc001opw.3_Missense_Mutation_p.G491R|CTTN_uc010rqm.1_Missense_Mutation_p.G212R|CTTN_uc001opx.2_Missense_Mutation_p.G212R	p.G528R	NM_005231	NP_005222	Q14247	SRC8_HUMAN	BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)	18	1788	+			528			SH3.		Q8N707|Q96H99	Missense_Mutation	SNP	ENST00000301843.8	37	c.1582G>C	CCDS41680.1	.	.	.	.	.	.	.	.	.	.	G	17.62	3.435294	0.62955	.	.	ENSG00000085733	ENST00000346329;ENST00000301843;ENST00000376561;ENST00000538675;ENST00000529736	T;T;T;T;T	0.59224	0.28;0.28;0.52;0.52;0.52	5.82	4.91	0.64330	Src homology-3 domain (5);	0.217364	0.47852	D	0.000220	T	0.77745	0.4176	M	0.82823	2.61	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.81846	-0.0745	10	0.87932	D	0	-47.2261	15.0521	0.71881	0.0683:0.0:0.9317:0.0	.	212;491;528;491	B4E358;Q96H99;Q14247;Q8N707	.;.;SRC8_HUMAN;.	R	491;528;491;212;185	ENSP00000317189:G491R;ENSP00000301843:G528R;ENSP00000365745:G491R;ENSP00000439762:G212R;ENSP00000431421:G185R	ENSP00000301843:G528R	G	+	1	0	CTTN	69958845	1.000000	0.71417	0.890000	0.34922	0.049000	0.14656	9.579000	0.98204	1.455000	0.47813	0.655000	0.94253	GGC		PASS	0.612	CTTN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259233.2	NM_138565		63	195	63	195	---	---	---	---
UCP3	7352	broad.mit.edu	37	11	73716885	73716885	+	Missense_Mutation	SNP	A	A	C			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr11:73716885A>C	ENST00000314032.4	-	4	983	c.431T>G	c.(430-432)tTt>tGt	p.F144C	UCP3_ENST00000348534.4_Intron|UCP3_ENST00000426995.2_Missense_Mutation_p.F144C	NM_003356.3	NP_003347.1	P55916	UCP3_HUMAN	uncoupling protein 3 (mitochondrial, proton carrier)	144					aging (GO:0007568)|cellular metabolic process (GO:0044237)|cellular response to hormone stimulus (GO:0032870)|fatty acid metabolic process (GO:0006631)|lipid metabolic process (GO:0006629)|mitochondrial transport (GO:0006839)|proton transport (GO:0015992)|respiratory electron transport chain (GO:0022904)|respiratory gaseous exchange (GO:0007585)|response to activity (GO:0014823)|response to cold (GO:0009409)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|response to superoxide (GO:0000303)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	oxidative phosphorylation uncoupler activity (GO:0017077)|transporter activity (GO:0005215)	p.F144C(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12	Breast(11;2.08e-05)					GCTGGCCTGAAATCGGACCTT	0.612																																						uc001our.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(430-432)TTT>TGT		uncoupling protein 3 isoform UCP3L							91.0	80.0	84.0					11																	73716885		2200	4293	6493	SO:0001583	missense	7352				mitochondrial transport|respiratory electron transport chain|respiratory gaseous exchange	integral to membrane|mitochondrial inner membrane	binding	g.chr11:73716885A>C	AF001787	CCDS8229.1, CCDS44677.1	11q13.4	2013-05-22				ENSG00000175564		"""Solute carriers"""	12519	protein-coding gene	gene with protein product		602044				9480760, 9196039	Standard	NM_003356		Approved	SLC25A9	uc001our.3	P55916		ENST00000314032.4:c.431T>G	11.37:g.73716885A>C	ENSP00000323740:p.Phe144Cys					UCP3_uc001ous.2_Missense_Mutation_p.F144C	p.F144C	NM_003356	NP_003347	P55916	UCP3_HUMAN			4	786	-	Breast(11;2.08e-05)		144			Solcar 2.		O60475|Q96HL3	Missense_Mutation	SNP	ENST00000314032.4	37	c.431T>G	CCDS8229.1	.	.	.	.	.	.	.	.	.	.	A	25.8	4.679978	0.88542	.	.	ENSG00000175564	ENST00000314032;ENST00000426995	T;T	0.79352	-1.26;-1.26	5.94	5.94	0.96194	Mitochondrial carrier domain (2);	0.042356	0.85682	D	0.000000	D	0.86916	0.6048	M	0.93375	3.41	0.80722	D	1	B	0.30763	0.294	B	0.40101	0.319	D	0.87801	0.2625	10	0.87932	D	0	-17.5835	16.0593	0.80830	1.0:0.0:0.0:0.0	.	144	P55916	UCP3_HUMAN	C	144	ENSP00000323740:F144C;ENSP00000392143:F144C	ENSP00000323740:F144C	F	-	2	0	UCP3	73394533	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	9.218000	0.95166	2.279000	0.76181	0.459000	0.35465	TTT		PASS	0.612	UCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398200.1	NM_003356		50	174	50	174	---	---	---	---
PRKRIR	5612	broad.mit.edu	37	11	76062405	76062405	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr11:76062405G>T	ENST00000260045.3	-	5	1894	c.1789C>A	c.(1789-1791)Cag>Aag	p.Q597K	PRKRIR_ENST00000531878.1_5'Flank	NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	597					negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)|signal transduction (GO:0007165)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q597K(1)		cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						TTGAGGTGCTGTTCTGAGAAT	0.413																																						uc001oxh.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(1789-1791)CAG>AAG		protein-kinase, interferon-inducible double							62.0	59.0	60.0					11																	76062405		2200	4286	6486	SO:0001583	missense	5612				negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity	g.chr11:76062405G>T	AF007393	CCDS8243.1	11q13.5	2013-01-25			ENSG00000137492	ENSG00000137492		"""THAP (C2CH-type zinc finger) domain containing"""	9440	protein-coding gene	gene with protein product	"""THAP domain containing 12"""	607374				9447982	Standard	NM_004705		Approved	P52rIPK, DAP4, THAP12	uc001oxh.1	O43422	OTTHUMG00000165280	ENST00000260045.3:c.1789C>A	11.37:g.76062405G>T	ENSP00000260045:p.Gln597Lys					PRKRIR_uc010rrz.1_Missense_Mutation_p.Q422K	p.Q597K	NM_004705	NP_004696	O43422	P52K_HUMAN			5	1789	-			597					A8K728|Q17RY9|Q8WTW1|Q9Y3Z4	Missense_Mutation	SNP	ENST00000260045.3	37	c.1789C>A	CCDS8243.1	.	.	.	.	.	.	.	.	.	.	G	12.42	1.933301	0.34096	.	.	ENSG00000137492	ENST00000529901;ENST00000260045	T;T	0.23950	1.88;1.88	5.13	5.13	0.70059	Ribonuclease H-like (1);	0.266424	0.44097	D	0.000485	T	0.24275	0.0588	L	0.51422	1.61	0.42079	D	0.991243	B	0.23316	0.083	B	0.15484	0.013	T	0.11916	-1.0568	10	0.07482	T	0.82	.	19.1244	0.93376	0.0:0.0:1.0:0.0	.	597	O43422	P52K_HUMAN	K	422;597	ENSP00000436249:Q422K;ENSP00000260045:Q597K	ENSP00000260045:Q597K	Q	-	1	0	PRKRIR	75740053	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.725000	0.47294	2.607000	0.88179	0.644000	0.83932	CAG		PASS	0.413	PRKRIR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383188.1	NM_004705		80	210	80	210	---	---	---	---
ME3	10873	broad.mit.edu	37	11	86157526	86157526	+	Missense_Mutation	SNP	G	G	C	rs199559518		TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr11:86157526G>C	ENST00000393324.3	-	12	1637	c.1384C>G	c.(1384-1386)Cga>Gga	p.R462G	RP11-317J19.1_ENST00000524610.1_RNA|ME3_ENST00000543262.1_Missense_Mutation_p.R462G|ME3_ENST00000359636.2_Missense_Mutation_p.R462G	NM_001014811.1	NP_001014811.1	Q16798	MAON_HUMAN	malic enzyme 3, NADP(+)-dependent, mitochondrial	462					aerobic respiration (GO:0009060)|malate metabolic process (GO:0006108)|oxidation-reduction process (GO:0055114)|oxygen metabolic process (GO:0072592)|pyruvate metabolic process (GO:0006090)	mitochondrion (GO:0005739)	cofactor binding (GO:0048037)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|malate dehydrogenase (decarboxylating) (NADP+) activity (GO:0004473)|malic enzyme activity (GO:0004470)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|oxaloacetate decarboxylase activity (GO:0008948)	p.R462G(1)		endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)				AAAATCCCTCGGCCCTGGAGG	0.473																																						uc001pbz.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1384-1386)CGA>GGA		mitochondrial malic enzyme 3 precursor	NADH(DB00157)						44.0	38.0	40.0					11																	86157526		2202	4299	6501	SO:0001583	missense	10873				aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process	mitochondrial matrix	malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding	g.chr11:86157526G>C	X79440	CCDS8277.1	11q14.2	2012-09-20			ENSG00000151376	ENSG00000151376	1.1.1.40		6985	protein-coding gene	gene with protein product		604626				7818469	Standard	NM_001161586		Approved		uc001pbz.3	Q16798	OTTHUMG00000167217	ENST00000393324.3:c.1384C>G	11.37:g.86157526G>C	ENSP00000376998:p.Arg462Gly					ME3_uc001pca.2_Missense_Mutation_p.R462G|ME3_uc009yvk.2_Missense_Mutation_p.R462G	p.R462G	NM_001014811	NP_001014811	Q16798	MAON_HUMAN			12	1638	-		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)	462					B7Z6V0|Q8TBJ0	Missense_Mutation	SNP	ENST00000393324.3	37	c.1384C>G	CCDS8277.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.143472	0.77888	.	.	ENSG00000151376	ENST00000359636;ENST00000543262;ENST00000393324;ENST00000524826	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	5.34	4.43	0.53597	Malic enzyme, NAD-binding (2);NAD(P)-binding domain (1);	0.058991	0.64402	D	0.000001	T	0.69424	0.3109	M	0.93106	3.38	0.80722	D	1	D	0.67145	0.996	D	0.63597	0.916	T	0.78076	-0.2345	9	.	.	.	-24.2754	13.6325	0.62204	0.0744:0.0:0.9256:0.0	.	462	Q16798	MAON_HUMAN	G	462	ENSP00000352657:R462G;ENSP00000440246:R462G;ENSP00000376998:R462G;ENSP00000431182:R462G	.	R	-	1	2	ME3	85835174	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.685000	0.84117	1.235000	0.43724	0.650000	0.86243	CGA		PASS	0.473	ME3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393767.2			10	69	10	69	---	---	---	---
TECTA	7007	broad.mit.edu	37	11	120983873	120983873	+	Silent	SNP	G	G	T			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr11:120983873G>T	ENST00000392793.1	+	5	850	c.579G>T	c.(577-579)gcG>gcT	p.A193A	TECTA_ENST00000264037.2_Silent_p.A193A			O75443	TECTA_HUMAN	tectorin alpha	193	NIDO. {ECO:0000255|PROSITE- ProRule:PRU00570}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.A193A(1)	TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CGGGGACGGCGAGTGGCGGCG	0.572											OREG0021430	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc010rzo.1																			1	Substitution - coding silent(1)		lung(1)	breast(6)|ovary(2)|skin(2)	10						c.(577-579)GCG>GCT		tectorin alpha precursor							79.0	74.0	76.0					11																	120983873		2203	4299	6502	SO:0001819	synonymous_variant	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:120983873G>T	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.579G>T	11.37:g.120983873G>T			OREG0021430	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1508		p.A193A	NM_005422	NP_005413	O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	4	579	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	193			NIDO.			Silent	SNP	ENST00000392793.1	37	c.579G>T	CCDS8434.1																																																																																				PASS	0.572	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		36	86	36	86	---	---	---	---
OR10S1	219873	broad.mit.edu	37	11	123847930	123847930	+	Nonsense_Mutation	SNP	C	C	A			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr11:123847930C>A	ENST00000531945.1	-	1	558	c.469G>T	c.(469-471)Gaa>Taa	p.E157*		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	157						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E157*(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CCAGCCATTTCTGCACACATC	0.562																																						uc001pzm.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|skin(1)	2						c.(469-471)GAA>TAA		olfactory receptor, family 10, subfamily S,							106.0	95.0	99.0					11																	123847930		2202	4299	6501	SO:0001587	stop_gained	219873				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123847930C>A	BK004509	CCDS31701.1	11q24.1	2012-08-09			ENSG00000196248	ENSG00000196248		"""GPCR / Class A : Olfactory receptors"""	14807	protein-coding gene	gene with protein product							Standard	NM_001004474		Approved		uc001pzm.1	Q8NGN2	OTTHUMG00000165963	ENST00000531945.1:c.469G>T	11.37:g.123847930C>A	ENSP00000431914:p.Glu157*						p.E157*	NM_001004474	NP_001004474	Q8NGN2	O10S1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	469	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	157			Helical; Name=4; (Potential).		B9EH43|Q6IEV3|Q96R78	Nonsense_Mutation	SNP	ENST00000531945.1	37	c.469G>T	CCDS31701.1	.	.	.	.	.	.	.	.	.	.	C	13.51	2.257365	0.39896	.	.	ENSG00000196248	ENST00000531945	.	.	.	4.89	3.02	0.34903	.	0.642824	0.12599	U	0.454934	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	-3.3649	1.2429	0.01967	0.1553:0.4422:0.1503:0.2521	.	.	.	.	X	157	.	ENSP00000431914:E157X	E	-	1	0	OR10S1	123353140	0.000000	0.05858	0.184000	0.23157	0.175000	0.22909	-0.877000	0.04197	0.683000	0.31428	0.573000	0.79308	GAA		PASS	0.562	OR10S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387265.2	NM_001004474		43	101	43	101	---	---	---	---
ADAMTS8	11095	broad.mit.edu	37	11	130297558	130297558	+	Silent	SNP	C	C	T			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr11:130297558C>T	ENST00000257359.6	-	1	1330	c.624G>A	c.(622-624)acG>acA	p.T208T		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	208					negative regulation of cell proliferation (GO:0008285)|phosphate ion transmembrane transport (GO:0035435)	proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)|low-affinity phosphate transmembrane transporter activity (GO:0009673)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.T237T(1)|p.T208T(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		TGGTCCTACTCGTGGCCCCCA	0.662																																						uc001qgg.3																			2	Substitution - coding silent(2)		lung(2)	central_nervous_system(1)	1						c.(622-624)ACG>ACA		ADAM metallopeptidase with thrombospondin type 1							22.0	31.0	28.0					11																	130297558		2183	4266	6449	SO:0001819	synonymous_variant	11095				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding	g.chr11:130297558C>T	AF060153	CCDS41732.1	11q25	2008-07-18	2005-08-19		ENSG00000134917	ENSG00000134917		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	224	protein-coding gene	gene with protein product		605175	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8"""			10438512	Standard	NM_007037		Approved	METH2, FLJ41712, ADAM-TS8	uc001qgg.4	Q9UP79	OTTHUMG00000165656	ENST00000257359.6:c.624G>A	11.37:g.130297558C>T							p.T208T	NM_007037	NP_008968	Q9UP79	ATS8_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)	1	982	-	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	208					Q9NZS0	Silent	SNP	ENST00000257359.6	37	c.624G>A	CCDS41732.1																																																																																				PASS	0.662	ADAMTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385636.1	NM_007037		6	16	6	16	---	---	---	---
DCP1B	196513	broad.mit.edu	37	12	2061719	2061719	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr12:2061719G>T	ENST00000280665.6	-	7	1466	c.1387C>A	c.(1387-1389)Cag>Aag	p.Q463K	DCP1B_ENST00000397173.4_Missense_Mutation_p.Q361K|DCP1B_ENST00000541700.1_5'Flank|DCP1B_ENST00000540622.1_Missense_Mutation_p.Q337K	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	463					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)	p.Q463K(1)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			TGCAGCTGCTGCTCCTGCTGT	0.537																																						uc001qjx.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1387-1389)CAG>AAG		decapping enzyme Dcp1b							100.0	101.0	101.0					12																	2061719		2203	4300	6503	SO:0001583	missense	196513				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding	g.chr12:2061719G>T	AY146652	CCDS31727.1	12p13.33	2013-05-02	2013-05-02		ENSG00000151065	ENSG00000151065			24451	protein-coding gene	gene with protein product		609843	"""DCP1 decapping enzyme homolog B (S. cerevisiae)"""			12417715, 15067023	Standard	NM_152640		Approved	FLJ31638	uc001qjx.1	Q8IZD4	OTTHUMG00000168113	ENST00000280665.6:c.1387C>A	12.37:g.2061719G>T	ENSP00000280665:p.Gln463Lys					DCP1B_uc010sdy.1_Missense_Mutation_p.Q361K	p.Q463K	NM_152640	NP_689853	Q8IZD4	DCP1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00193)		7	1467	-			463					B4DRD1|Q86XH9|Q96BP8|Q96MZ8	Missense_Mutation	SNP	ENST00000280665.6	37	c.1387C>A	CCDS31727.1	.	.	.	.	.	.	.	.	.	.	G	14.65	2.600034	0.46318	.	.	ENSG00000151065	ENST00000280665;ENST00000397173;ENST00000540622	T;T;T	0.29142	2.05;2.02;1.58	4.66	4.66	0.58398	.	0.000000	0.85682	D	0.000000	T	0.27313	0.0670	L	0.55481	1.735	0.41262	D	0.986786	P;P	0.43094	0.651;0.799	B;B	0.32149	0.084;0.141	T	0.17776	-1.0358	10	0.40728	T	0.16	-16.1171	16.7143	0.85394	0.0:0.0:1.0:0.0	.	361;463	B4DRD1;Q8IZD4	.;DCP1B_HUMAN	K	463;361;337	ENSP00000280665:Q463K;ENSP00000380358:Q361K;ENSP00000444374:Q337K	ENSP00000280665:Q463K	Q	-	1	0	DCP1B	1931980	1.000000	0.71417	1.000000	0.80357	0.452000	0.32318	5.462000	0.66707	2.405000	0.81733	0.609000	0.83330	CAG		PASS	0.537	DCP1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398244.1	NM_152640		5	252	5	252	---	---	---	---
NCAPD2	9918	broad.mit.edu	37	12	6637954	6637954	+	Silent	SNP	C	C	T			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr12:6637954C>T	ENST00000315579.5	+	26	4208	c.3409C>T	c.(3409-3411)Ctg>Ttg	p.L1137L	NCAPD2_ENST00000545962.1_Silent_p.L1092L	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	1137					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|condensin core heterodimer (GO:0000797)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|pronucleus (GO:0045120)	histone binding (GO:0042393)	p.L1137L(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						GATGGCGGTGCTGCTCATCGA	0.602																																						uc001qoo.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(1)|breast(1)|kidney(1)	5						c.(3409-3411)CTG>TTG		non-SMC condensin I complex, subunit D2							74.0	68.0	70.0					12																	6637954		2203	4300	6503	SO:0001819	synonymous_variant	9918				cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding	g.chr12:6637954C>T	D63880	CCDS8548.1	12p13.31	2008-02-04			ENSG00000010292	ENSG00000010292			24305	protein-coding gene	gene with protein product	"""chromosome condensation related SMC associated protein 1"""	615638				8590280, 10958694	Standard	NM_014865		Approved	CNAP1, hCAP-D2, CAP-D2, KIAA0159	uc001qoo.2	Q15021	OTTHUMG00000168513	ENST00000315579.5:c.3409C>T	12.37:g.6637954C>T						NCAPD2_uc010sfd.1_Silent_p.L1092L	p.L1137L	NM_014865	NP_055680	Q15021	CND1_HUMAN			26	3455	+			1137					D3DUR4|Q8N6U3	Silent	SNP	ENST00000315579.5	37	c.3409C>T	CCDS8548.1																																																																																				PASS	0.602	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399964.1	NM_014865		50	96	50	96	---	---	---	---
KLRF1	51348	broad.mit.edu	37	12	9984949	9984949	+	Silent	SNP	G	G	T			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr12:9984949G>T	ENST00000279544.3	+	2	187	c.123G>T	c.(121-123)ctG>ctT	p.L41L	KLRF1_ENST00000354855.3_Silent_p.L41L|KLRF1_ENST00000537723.1_Silent_p.L41L|KLRF1_ENST00000324214.4_Silent_p.L41L	NM_016523.1	NP_057607	Q9NZS2	KLRF1_HUMAN	killer cell lectin-like receptor subfamily F, member 1	41					cell surface receptor signaling pathway (GO:0007166)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|MHC class I receptor activity (GO:0032393)|transmembrane signaling receptor activity (GO:0004888)	p.L41L(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(6)	13						AAATCTTACTGGGAATATCTG	0.328																																						uc010sgw.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)	1						c.(121-123)CTG>CTT		killer cell lectin-like receptor subfamily F,							139.0	132.0	134.0					12																	9984949		1817	4082	5899	SO:0001819	synonymous_variant	51348				cell surface receptor linked signaling pathway	integral to plasma membrane	MHC class I receptor activity|sugar binding	g.chr12:9984949G>T	AF175206	CCDS41750.1	12p13.31	2011-08-30			ENSG00000150045	ENSG00000150045		"""Killer cell lectin-like receptors"", ""C-type lectin domain containing"""	13342	protein-coding gene	gene with protein product		605029				10671213	Standard	NM_001291823		Approved	CLEC5C, NKp80	uc021qux.1	Q9NZS2		ENST00000279544.3:c.123G>T	12.37:g.9984949G>T						KLRF1_uc009zgw.2_Silent_p.L41L|KLRF1_uc009zgx.2_RNA|KLRF1_uc001qwm.2_RNA|KLRF1_uc009zgy.2_RNA|KLRF1_uc009zgz.2_Silent_p.L41L|KLRF1_uc009zha.2_RNA	p.L41L	NM_016523	NP_057607	Q9NZS2	KLRF1_HUMAN			2	187	+			41			Helical; Signal-anchor for type II membrane protein; (Potential).		Q4KMT5|Q96PR2|Q96PR3|Q9NZS1	Silent	SNP	ENST00000279544.3	37	c.123G>T	CCDS41750.1																																																																																				PASS	0.328	KLRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399535.1	NM_016523		57	97	57	97	---	---	---	---
GRIN2B	2904	broad.mit.edu	37	12	13769390	13769390	+	Splice_Site	SNP	C	C	T			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr12:13769390C>T	ENST00000609686.1	-	5	1536	c.1327G>A	c.(1327-1329)Gag>Aag	p.E443K		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	443					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.E443K(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)	ATGCCATACTCAGTGACTATG	0.527																																						uc001rbt.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12						c.(1327-1329)GAG>AAG		N-methyl-D-aspartate receptor subunit 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						134.0	104.0	114.0					12																	13769390		2203	4300	6503	SO:0001630	splice_region_variant	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.chr12:13769390C>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.1328+1G>A	12.37:g.13769390C>T							p.E443K	NM_000834	NP_000825	Q13224	NMDE2_HUMAN			5	1506	-			443			Extracellular (Potential).		Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	c.1327G>A	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	C	16.38	3.108378	0.56291	.	.	ENSG00000150086	ENST00000279593	T	0.11712	2.75	5.53	5.53	0.82687	Glutamate receptor, L-glutamate/glycine-binding (1);Ionotropic glutamate receptor (1);	0.322739	0.34200	N	0.004175	T	0.09992	0.0245	N	0.22421	0.69	0.80722	D	1	B	0.20052	0.041	B	0.16289	0.015	T	0.21245	-1.0251	10	0.30078	T	0.28	.	19.4657	0.94939	0.0:1.0:0.0:0.0	.	443	Q13224	NMDE2_HUMAN	K	443	ENSP00000279593:E443K	ENSP00000279593:E443K	E	-	1	0	GRIN2B	13660657	1.000000	0.71417	0.998000	0.56505	0.932000	0.56968	3.968000	0.56809	2.579000	0.87056	0.563000	0.77884	GAG		PASS	0.527	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2		Missense_Mutation	34	96	34	96	---	---	---	---
ITPR2	3709	broad.mit.edu	37	12	26775339	26775339	+	Splice_Site	SNP	C	C	T			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr12:26775339C>T	ENST00000381340.3	-	25	3539		c.e25-1		RP11-666F17.1_ENST00000414098.2_RNA|ITPR2_ENST00000545902.1_Splice_Site	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2						activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)	p.?(1)	ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	TTTTTCTTTTCTATAAAACCA	0.358																																						uc001rhg.2																			1	Unknown(1)		lung(1)	kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14						c.e25-1		inositol 1,4,5-triphosphate receptor, type 2							64.0	64.0	64.0					12																	26775339		1839	4090	5929	SO:0001630	splice_region_variant	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26775339C>T	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.3123-1G>A	12.37:g.26775339C>T							p.R1041_splice	NM_002223	NP_002214	Q14571	ITPR2_HUMAN			25	3540	-	Colorectal(261;0.0847)							O94773	Splice_Site	SNP	ENST00000381340.3	37	c.3123_splice	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.985375	0.74474	.	.	ENSG00000123104	ENST00000381340	.	.	.	5.11	5.11	0.69529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7307	0.91734	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ITPR2	26666606	1.000000	0.71417	0.992000	0.48379	0.854000	0.48673	5.687000	0.68219	2.659000	0.90383	0.650000	0.86243	.		PASS	0.358	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223	Intron	17	38	17	38	---	---	---	---
PRPH	5630	broad.mit.edu	37	12	49690694	49690694	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr12:49690694G>C	ENST00000257860.4	+	4	2224	c.725G>C	c.(724-726)aGt>aCt	p.S242T	RP11-161H23.9_ENST00000553259.1_RNA	NM_006262.3	NP_006253.2	P23942	PRPH2_HUMAN	peripherin	0					cell adhesion (GO:0007155)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)		p.S242T(1)		kidney(1)|large_intestine(2)|lung(8)|skin(1)	12						CTGCAGGTGAGTGTGGAGAGC	0.647											OREG0021790	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001rtu.2																			1	Substitution - Missense(1)		lung(1)		0						c.(724-726)AGT>ACT		peripherin							27.0	27.0	27.0					12																	49690694		2202	4300	6502	SO:0001583	missense	5630						structural molecule activity	g.chr12:49690694G>C		CCDS8783.1	12q12-q13	2013-01-16						"""Intermediate filaments type III"""	9461	protein-coding gene	gene with protein product		170710		NEF4		1378416	Standard	XM_005269025		Approved	PRPH1	uc001rtu.3	P41219		ENST00000257860.4:c.725G>C	12.37:g.49690694G>C	ENSP00000257860:p.Ser242Thr		OREG0021790	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	964		p.S242T	NM_006262	NP_006253	P41219	PERI_HUMAN			4	800	+			242			Linker 2.|Rod.		Q5TFH5|Q6DK65	Missense_Mutation	SNP	ENST00000257860.4	37	c.725G>C	CCDS8783.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.663569	0.47572	.	.	ENSG00000135406	ENST00000257860	D	0.88975	-2.45	5.95	0.474	0.16768	Filament (1);	0.453316	0.18703	N	0.133529	T	0.78259	0.4255	N	0.17631	0.505	0.28314	N	0.922527	B	0.06786	0.001	B	0.13407	0.009	T	0.68884	-0.5291	10	0.66056	D	0.02	.	7.3709	0.26800	0.3589:0.1125:0.5285:0.0	.	242	P41219	PERI_HUMAN	T	242	ENSP00000257860:S242T	ENSP00000257860:S242T	S	+	2	0	PRPH	47976961	1.000000	0.71417	0.921000	0.36526	0.952000	0.60782	2.123000	0.41996	0.143000	0.18926	-0.150000	0.13652	AGT		PASS	0.647	PRPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393381.1	NM_006262		11	47	11	47	---	---	---	---
KRT84	3890	broad.mit.edu	37	12	52775270	52775270	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr12:52775270C>G	ENST00000257951.3	-	5	1018	c.952G>C	c.(952-954)Gtc>Ctc	p.V318L	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	318	Linker 12.|Rod.				hair follicle development (GO:0001942)|nail development (GO:0035878)|regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of epidermis (GO:0030280)	p.V318L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TTCACAATGACCGACGTCTCT	0.542																																						uc001sah.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(952-954)GTC>CTC		keratin, hair, basic, 4							192.0	172.0	179.0					12																	52775270		2203	4300	6503	SO:0001583	missense	3890					keratin filament	structural constituent of epidermis	g.chr12:52775270C>G	Y19209	CCDS8825.1	12q13	2013-06-25	2006-07-17	2006-07-17	ENSG00000161849	ENSG00000161849		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6461	protein-coding gene	gene with protein product	"""hard keratin type II 4"""	602766	"""keratin, hair, basic, 4"""	KRTHB4		2431943, 16831889	Standard	NM_033045		Approved	Hb-4	uc001sah.1	Q9NSB2	OTTHUMG00000169634	ENST00000257951.3:c.952G>C	12.37:g.52775270C>G	ENSP00000257951:p.Val318Leu						p.V318L	NM_033045	NP_149034	Q9NSB2	KRT84_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	5	1000	-	all_hematologic(5;0.12)		318			Rod.|Linker 12.		B2RA43|Q6ISB0|Q701L6	Missense_Mutation	SNP	ENST00000257951.3	37	c.952G>C	CCDS8825.1	.	.	.	.	.	.	.	.	.	.	C	32	5.130180	0.94473	.	.	ENSG00000161849	ENST00000257951	T	0.75154	-0.91	4.88	4.88	0.63580	Filament (1);	0.000000	0.43747	D	0.000530	T	0.79299	0.4422	M	0.81341	2.54	0.50813	D	0.999897	P	0.43431	0.807	B	0.42916	0.402	D	0.83962	0.0322	10	0.87932	D	0	.	18.2302	0.89933	0.0:1.0:0.0:0.0	.	318	Q9NSB2	KRT84_HUMAN	L	318	ENSP00000257951:V318L	ENSP00000257951:V318L	V	-	1	0	KRT84	51061537	1.000000	0.71417	0.828000	0.32881	0.893000	0.52053	7.458000	0.80787	2.537000	0.85549	0.563000	0.77884	GTC		PASS	0.542	KRT84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405187.1	NM_033045		186	540	186	540	---	---	---	---
WIF1	11197	broad.mit.edu	37	12	65456338	65456338	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr12:65456338C>G	ENST00000286574.4	-	7	1123	c.749G>C	c.(748-750)tGc>tCc	p.C250S		NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1	250	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				multicellular organismal development (GO:0007275)|positive regulation of fat cell differentiation (GO:0045600)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)		p.C250S(2)		cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		TCCATTAAAGCAGGTGGTTGA	0.423			T	HMGA2	pleomorphic salivary gland adenoma																																Esophageal Squamous(148;1595 1816 48559 49439 49664)	uc001ssk.2				Dom	yes		12	12q14.3	11197	T	WNT inhibitory factor 1			E	HMGA2		pleomorphic salivary gland adenoma		2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(1)|skin(1)	4						c.(748-750)TGC>TCC		WNT inhibitory factor 1 precursor							118.0	104.0	109.0					12																	65456338		2203	4300	6503	SO:0001583	missense	11197				multicellular organismal development|Wnt receptor signaling pathway	extracellular region	protein tyrosine kinase activity	g.chr12:65456338C>G	AF122922	CCDS8971.1	12q14.2	2008-04-11			ENSG00000156076	ENSG00000156076			18081	protein-coding gene	gene with protein product		605186				10201374	Standard	NM_007191		Approved		uc001ssk.3	Q9Y5W5	OTTHUMG00000168832	ENST00000286574.4:c.749G>C	12.37:g.65456338C>G	ENSP00000286574:p.Cys250Ser						p.C250S	NM_007191	NP_009122	Q9Y5W5	WIF1_HUMAN	LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)	7	894	-			250			EGF-like 3.		Q6UXI1|Q8WVG4	Missense_Mutation	SNP	ENST00000286574.4	37	c.749G>C	CCDS8971.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.195472	0.78902	.	.	ENSG00000156076	ENST00000286574;ENST00000543094	D;D	0.99818	-6.92;-6.92	5.14	5.14	0.70334	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.148333	0.64402	D	0.000011	D	0.99869	0.9938	M	0.93808	3.46	0.80722	D	1	D	0.58970	0.984	D	0.66196	0.942	D	0.96711	0.9525	9	.	.	.	.	19.5035	0.95105	0.0:1.0:0.0:0.0	.	250	Q9Y5W5	WIF1_HUMAN	S	250;13	ENSP00000286574:C250S;ENSP00000439024:C13S	.	C	-	2	0	WIF1	63742605	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	6.431000	0.73395	2.774000	0.95407	0.650000	0.86243	TGC		PASS	0.423	WIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401258.2			7	18	7	18	---	---	---	---
NAV3	89795	broad.mit.edu	37	12	78598727	78598727	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr12:78598727C>T	ENST00000397909.2	+	39	7020	c.6847C>T	c.(6847-6849)Cgc>Tgc	p.R2283C	NAV3_ENST00000228327.6_Missense_Mutation_p.R2261C|NAV3_ENST00000536525.2_Missense_Mutation_p.R2261C|NAV3_ENST00000541270.1_Missense_Mutation_p.R113C|NAV3_ENST00000266692.7_Missense_Mutation_p.R2084C			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2283						membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.R2261C(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GTATGGGAAACGCACACCATG	0.448										HNSCC(70;0.22)																												uc001syp.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.(6847-6849)CGC>TGC		neuron navigator 3							65.0	62.0	63.0					12																	78598727		1942	4163	6105	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78598727C>T	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.6847C>T	12.37:g.78598727C>T	ENSP00000381007:p.Arg2283Cys	HNSCC(70;0.22)				NAV3_uc001syo.2_Missense_Mutation_p.R2261C|NAV3_uc010sub.1_Missense_Mutation_p.R1740C|NAV3_uc009zsf.2_Missense_Mutation_p.R1092C	p.R2283C	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			39	7020	+			2283					Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.6847C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.50|12.50	1.957340|1.957340	0.34565|0.34565	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000541270|ENST00000552895;ENST00000551162	T;T;T;T;T|.	0.48522|.	1.55;1.55;1.55;1.48;0.81|.	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	0.000000|.	0.36167|.	U|.	0.002754|.	T|T	0.71213|0.71213	0.3313|0.3313	M|M	0.67625|0.67625	2.065|2.065	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|.	1.0;0.996;0.996;0.998|.	T|T	0.70414|0.70414	-0.4878|-0.4878	10|5	0.31617|.	T|.	0.26|.	-12.5198|-12.5198	13.2473|13.2473	0.60029|0.60029	0.2665:0.7335:0.0:0.0|0.2665:0.7335:0.0:0.0	.|.	2261;2084;2283;2261|.	E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2|.	.;.;NAV3_HUMAN;.|.	C|M	2261;2283;2261;2084;113|1155;150	ENSP00000446132:R2261C;ENSP00000381007:R2283C;ENSP00000228327:R2261C;ENSP00000266692:R2084C;ENSP00000444918:R113C|.	ENSP00000228327:R2261C|.	R|T	+|+	1|2	0|0	NAV3|NAV3	77122858|77122858	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.034000|0.034000	0.12701|0.12701	2.036000|2.036000	0.41165|0.41165	2.532000|2.532000	0.85374|0.85374	0.591000|0.591000	0.81541|0.81541	CGC|ACG		PASS	0.448	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		33	78	33	78	---	---	---	---
ACSS3	79611	broad.mit.edu	37	12	81647378	81647378	+	Silent	SNP	C	C	T			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr12:81647378C>T	ENST00000548058.1	+	15	2834	c.1924C>T	c.(1924-1926)Cta>Tta	p.L642L	ACSS3_ENST00000261206.3_Silent_p.L641L|ACSS3_ENST00000548324.1_Silent_p.L324L			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	642						mitochondrion (GO:0005739)	acetate-CoA ligase activity (GO:0003987)|ATP binding (GO:0005524)	p.L642L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						TGTCAAACAGCTACCCAAAAC	0.423																																						uc001szl.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(1924-1926)CTA>TTA		acyl-CoA synthetase short-chain family member 3							100.0	101.0	101.0					12																	81647378		2203	4300	6503	SO:0001819	synonymous_variant	79611					mitochondrion	acetate-CoA ligase activity|ATP binding	g.chr12:81647378C>T		CCDS9022.1	12q21.31	2014-08-08			ENSG00000111058	ENSG00000111058		"""Acyl-CoA synthetase family"""	24723	protein-coding gene	gene with protein product		614356				17762044	Standard	NM_024560		Approved	FLJ21963	uc001szl.1	Q9H6R3	OTTHUMG00000170179	ENST00000548058.1:c.1924C>T	12.37:g.81647378C>T						ACSS3_uc001szm.1_Silent_p.L641L|ACSS3_uc001szn.1_Silent_p.L324L	p.L642L	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN			15	2015	+			642					Q8NC66	Silent	SNP	ENST00000548058.1	37	c.1924C>T	CCDS9022.1																																																																																				PASS	0.423	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407794.1	NM_024560		55	137	55	137	---	---	---	---
ALDH1L2	160428	broad.mit.edu	37	12	105464489	105464489	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr12:105464489C>A	ENST00000258494.9	-	3	427	c.287G>T	c.(286-288)aGa>aTa	p.R96I	RP11-61E11.1_ENST00000547750.1_RNA|ALDH1L2_ENST00000424857.2_Missense_Mutation_p.R96I	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	96	GART.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)	p.R96I(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						ACCCACGGATCTGTAGGCTTC	0.483																																						uc001tlc.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(286-288)AGA>ATA		aldehyde dehydrogenase 1 family, member L2							183.0	147.0	159.0					12																	105464489		2203	4300	6503	SO:0001583	missense	160428				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding	g.chr12:105464489C>A	AK095827	CCDS31891.1	12q23.3	2014-09-11			ENSG00000136010	ENSG00000136010	1.5.1.6	"""Aldehyde dehydrogenases"""	26777	protein-coding gene	gene with protein product	"""mitochondrial 10-formyltetrahydrofolate dehydrogenase"""	613584				20498374	Standard	NM_001034173		Approved	FLJ38508, mtFDH	uc001tlc.3	Q3SY69	OTTHUMG00000169823	ENST00000258494.9:c.287G>T	12.37:g.105464489C>A	ENSP00000258494:p.Arg96Ile					ALDH1L2_uc009zup.2_RNA	p.R96I	NM_001034173	NP_001029345	Q3SY69	AL1L2_HUMAN			3	414	-			96			GART.		Q3SY68|Q68D62|Q6AI55|Q8N922	Missense_Mutation	SNP	ENST00000258494.9	37	c.287G>T	CCDS31891.1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.924457	0.52653	.	.	ENSG00000136010	ENST00000258494;ENST00000424857	T;T	0.78003	-1.14;-1.14	5.27	1.18	0.20946	Formyl transferase, N-terminal (3);	0.314253	0.38005	N	0.001853	T	0.68897	0.3051	L	0.48986	1.54	0.41948	D	0.990646	B	0.18310	0.027	B	0.28784	0.094	T	0.61028	-0.7145	10	0.87932	D	0	.	5.0784	0.14644	0.0:0.3588:0.1517:0.4895	.	96	Q3SY69	AL1L2_HUMAN	I	96	ENSP00000258494:R96I;ENSP00000389608:R96I	ENSP00000258494:R96I	R	-	2	0	ALDH1L2	103988619	1.000000	0.71417	0.877000	0.34402	0.983000	0.72400	1.646000	0.37249	0.012000	0.14892	0.655000	0.94253	AGA		PASS	0.483	ALDH1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406098.1	XM_090294		31	232	31	232	---	---	---	---
PTPN11	5781	broad.mit.edu	37	12	112915507	112915507	+	Silent	SNP	A	A	G			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr12:112915507A>G	ENST00000351677.2	+	8	1104	c.906A>G	c.(904-906)tcA>tcG	p.S302S	PTPN11_ENST00000392597.1_Silent_p.S302S	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	302	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				abortive mitotic cell cycle (GO:0033277)|activation of MAPK activity (GO:0000187)|atrioventricular canal development (GO:0036302)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage checkpoint (GO:0000077)|ephrin receptor signaling pathway (GO:0048013)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|genitalia development (GO:0048806)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|hormone metabolic process (GO:0042445)|hormone-mediated signaling pathway (GO:0009755)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|multicellular organismal reproductive process (GO:0048609)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cortisol secretion (GO:0051463)|negative regulation of growth hormone secretion (GO:0060125)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ growth (GO:0035265)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet formation (GO:0030220)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of hormone secretion (GO:0046887)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of multicellular organism growth (GO:0040014)|regulation of protein export from nucleus (GO:0046825)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|triglyceride metabolic process (GO:0006641)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	insulin receptor binding (GO:0005158)|non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|SH3/SH2 adaptor activity (GO:0005070)	p.S302S(1)		NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						AGCCTGTTTCAGATTACATCA	0.398			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome																													uc001ttx.2				Dom	yes		12	12q24.1	5781	Mis	"""protein tyrosine phosphatase, non-receptor type 11"""	yes	Noonan Syndrome	L			JMML|AML|MDS		1	Substitution - coding silent(1)		lung(1)	haematopoietic_and_lymphoid_tissue(375)|lung(6)|autonomic_ganglia(2)|soft_tissue(2)|central_nervous_system(2)|large_intestine(1)|skin(1)|ovary(1)|NS(1)|kidney(1)	392						c.(904-906)TCA>TCG		protein tyrosine phosphatase, non-receptor type							209.0	182.0	191.0					12																	112915507		2203	4300	6503	SO:0001819	synonymous_variant	5781	Noonan_syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding	g.chr12:112915507A>G	D13540	CCDS9163.1, CCDS58280.1	12q24.1	2014-09-17	2008-07-31		ENSG00000179295	ENSG00000179295		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"", ""SH2 domain containing"""	9644	protein-coding gene	gene with protein product		176876	"""Noonan syndrome 1"""	NS1		7894486, 1280823	Standard	NM_080601		Approved	BPTP3, SH-PTP2, SHP-2, PTP2C, SHP2	uc001ttx.3	Q06124	OTTHUMG00000134334	ENST00000351677.2:c.906A>G	12.37:g.112915507A>G						PTPN11_uc001ttw.1_Silent_p.S302S	p.S302S	NM_002834	NP_002825	Q06124	PTN11_HUMAN			8	1286	+			302			Tyrosine-protein phosphatase.		A8K1D9|Q96HD7	Silent	SNP	ENST00000351677.2	37	c.906A>G	CCDS9163.1																																																																																				PASS	0.398	PTPN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259496.2			4	340	4	340	---	---	---	---
TPCN1	53373	broad.mit.edu	37	12	113710465	113710465	+	Missense_Mutation	SNP	T	T	G			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr12:113710465T>G	ENST00000335509.6	+	8	1065	c.751T>G	c.(751-753)Ttc>Gtc	p.F251V	TPCN1_ENST00000550785.1_Missense_Mutation_p.F323V|TPCN1_ENST00000541517.1_Missense_Mutation_p.F323V|TPCN1_ENST00000392569.4_Missense_Mutation_p.F183V	NM_017901.4	NP_060371.2	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	251					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|voltage-gated calcium channel activity (GO:0005245)	p.F251V(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						ACTTCTAGGTTTCTACTTGTT	0.468																																						uc001tuw.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(751-753)TTC>GTC		two pore segment channel 1 isoform 2							299.0	275.0	283.0					12																	113710465		2203	4300	6503	SO:0001583	missense	53373					endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity	g.chr12:113710465T>G	AB032995	CCDS31908.1, CCDS44985.1	12q24.21	2011-07-05			ENSG00000186815	ENSG00000186815		"""Voltage-gated ion channels / Two-pore channels"""	18182	protein-coding gene	gene with protein product		609666				10574461, 10753632, 16382101	Standard	XM_005253905		Approved	KIAA1169, FLJ20612, TPC1	uc001tux.3	Q9ULQ1	OTTHUMG00000169625	ENST00000335509.6:c.751T>G	12.37:g.113710465T>G	ENSP00000335300:p.Phe251Val					TPCN1_uc001tux.2_Missense_Mutation_p.F323V|TPCN1_uc010syt.1_Missense_Mutation_p.F183V	p.F251V	NM_017901	NP_060371	Q9ULQ1	TPC1_HUMAN			8	1048	+			251			Helical; Name=S5 of repeat I; (Potential).		A7E258|Q86XS9|Q8NC20	Missense_Mutation	SNP	ENST00000335509.6	37	c.751T>G	CCDS31908.1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.671859	0.88348	.	.	ENSG00000186815	ENST00000335509;ENST00000550785;ENST00000541517;ENST00000392569	D;D;D;D	0.98178	-4.77;-4.77;-4.77;-4.77	5.73	5.73	0.89815	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97974	0.9333	L	0.37466	1.105	0.58432	D	0.999997	D;D;D	0.69078	0.997;0.996;0.994	D;D;P	0.79108	0.992;0.917;0.88	D	0.97808	1.0249	10	0.26408	T	0.33	-17.4894	15.9985	0.80270	0.0:0.0:0.0:1.0	.	251;323;251	A5PKY2;Q9ULQ1-3;Q9ULQ1	.;.;TPC1_HUMAN	V	251;323;323;183	ENSP00000335300:F251V;ENSP00000448083:F323V;ENSP00000438125:F323V;ENSP00000376350:F183V	ENSP00000335300:F251V	F	+	1	0	TPCN1	112194848	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	5.894000	0.69806	2.183000	0.69458	0.459000	0.35465	TTC		PASS	0.468	TPCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405156.3	NM_017901		168	702	168	702	---	---	---	---
PITPNM2	57605	broad.mit.edu	37	12	123481956	123481956	+	Missense_Mutation	SNP	T	T	C			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr12:123481956T>C	ENST00000542749.1	-	9	1451	c.1388A>G	c.(1387-1389)cAc>cGc	p.H463R	PITPNM2_ENST00000320201.4_Missense_Mutation_p.H463R|PITPNM2_ENST00000392428.1_Missense_Mutation_p.H184R|PITPNM2_ENST00000451868.2_5'Flank|PITPNM2_ENST00000280562.5_Missense_Mutation_p.H463R			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	463					metabolic process (GO:0008152)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)	p.H463R(1)		NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		GCTGGGGTAGTGCACGCGCAT	0.672																																						uc001uej.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1387-1389)CAC>CGC		phosphatidylinositol transfer protein,							117.0	107.0	110.0					12																	123481956		2203	4300	6503	SO:0001583	missense	57605				metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding	g.chr12:123481956T>C	AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975			21044	protein-coding gene	gene with protein product		608920				10022914	Standard	XM_005253582		Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000542749.1:c.1388A>G	12.37:g.123481956T>C	ENSP00000437611:p.His463Arg					PITPNM2_uc001uek.1_Missense_Mutation_p.H463R	p.H463R	NM_020845	NP_065896	Q9BZ72	PITM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)	10	1527	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		463					Q9P271	Missense_Mutation	SNP	ENST00000542749.1	37	c.1388A>G	CCDS9242.1	.	.	.	.	.	.	.	.	.	.	T	28.7	4.940651	0.92526	.	.	ENSG00000090975	ENST00000280562;ENST00000320201;ENST00000392428;ENST00000542749	T;T;T;T	0.18657	2.2;2.2;2.2;2.2	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.50769	0.1635	M	0.84948	2.725	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	T	0.59695	-0.7406	10	0.87932	D	0	-40.6492	14.4379	0.67296	0.0:0.0:0.0:1.0	.	463;463	Q9BZ72-2;Q9BZ72	.;PITM2_HUMAN	R	463;463;184;463	ENSP00000280562:H463R;ENSP00000322218:H463R;ENSP00000376223:H184R;ENSP00000437611:H463R	ENSP00000280562:H463R	H	-	2	0	PITPNM2	122047909	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	8.012000	0.88631	1.815000	0.52974	0.460000	0.39030	CAC		PASS	0.672	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401342.1	NM_020845		51	259	51	259	---	---	---	---
ZNF10	7556	broad.mit.edu	37	12	133733022	133733022	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr12:133733022G>A	ENST00000248211.6	+	5	1412	c.1190G>A	c.(1189-1191)aGa>aAa	p.R397K	ZNF10_ENST00000426665.2_Missense_Mutation_p.R397K|ZNF268_ENST00000416488.1_Intron|CTD-2140B24.4_ENST00000540096.2_Intron|ZNF10_ENST00000402932.2_Missense_Mutation_p.R263K	NM_015394.4	NP_056209.2	P21506	ZNF10_HUMAN	zinc finger protein 10	397					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.R397K(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		CTGCATCAGAGAACCCATGTG	0.438																																						uc009zzb.2																			1	Substitution - Missense(1)		lung(1)	breast(1)|central_nervous_system(1)|skin(1)	3						c.(1189-1191)AGA>AAA		zinc finger protein 10							159.0	159.0	159.0					12																	133733022		2203	4300	6503	SO:0001583	missense	7556				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:133733022G>A	X52332, BC024182	CCDS9283.1	12q24.33	2013-01-08	2005-05-22		ENSG00000256223	ENSG00000256223		"""Zinc fingers, C2H2-type"", ""-"""	12879	protein-coding gene	gene with protein product		194538	"""zinc finger protein 10 (KOX 1)"""			7865130, 8262519	Standard	NM_015394		Approved	KOX1	uc001ulq.3	P21506	OTTHUMG00000167944	ENST00000248211.6:c.1190G>A	12.37:g.133733022G>A	ENSP00000248211:p.Arg397Lys					ZNF268_uc010tbv.1_Intron|ZNF10_uc001ulq.2_Missense_Mutation_p.R397K	p.R397K	NM_015394	NP_056209	P21506	ZNF10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)	5	1637	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)	397			C2H2-type 6.		B2RBS1|Q8TC91	Missense_Mutation	SNP	ENST00000248211.6	37	c.1190G>A	CCDS9283.1	.	.	.	.	.	.	.	.	.	.	G	12.54	1.969012	0.34754	.	.	ENSG00000256223	ENST00000248211;ENST00000426665;ENST00000402932	T;T;T	0.18338	2.31;2.31;2.22	3.73	3.73	0.42828	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.199228	0.25283	N	0.031798	T	0.13114	0.0318	N	0.17631	0.505	0.80722	D	1	P	0.34662	0.462	B	0.38264	0.269	T	0.18429	-1.0337	9	.	.	.	.	14.797	0.69884	0.0:0.0:1.0:0.0	.	397	P21506	ZNF10_HUMAN	K	397;397;263	ENSP00000248211:R397K;ENSP00000393814:R397K;ENSP00000384893:R263K	.	R	+	2	0	ZNF10	132243095	0.004000	0.15560	1.000000	0.80357	0.997000	0.91878	1.455000	0.35190	2.072000	0.62099	0.655000	0.94253	AGA		PASS	0.438	ZNF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397182.1	NM_015394		192	292	192	292	---	---	---	---
C1QTNF9B	387911	broad.mit.edu	37	13	24466031	24466031	+	Silent	SNP	A	A	G			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr13:24466031A>G	ENST00000382140.2	-	5	459	c.399T>C	c.(397-399)acT>acC	p.T133T	C1QTNF9B_ENST00000382137.3_Silent_p.T133T|MIPEP_ENST00000469167.1_5'Flank|C1QTNF9B_ENST00000382057.3_Intron|C1QTNF9B-AS1_ENST00000435039.2_RNA|C1QTNF9B_ENST00000556521.1_Intron|C1QTNF9B_ENST00000382145.1_Intron|C1QTNF9B-AS1_ENST00000382133.4_RNA|C1QTNF9B-AS1_ENST00000417034.1_RNA|MIPEP_ENST00000382172.3_5'Flank			B2RNN3	C1T9B_HUMAN	C1q and tumor necrosis factor related protein 9B	133	Collagen-like 2.					collagen trimer (GO:0005581)|extracellular vesicular exosome (GO:0070062)		p.T133T(1)		breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						CCTCAGGACCAGTGGGACCCA	0.637																																						uc010tcw.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(397-399)ACT>ACC		C1q and tumor necrosis factor related protein 9B							13.0	18.0	16.0					13																	24466031		2167	4269	6436	SO:0001819	synonymous_variant	387911					collagen		g.chr13:24466031A>G	BC110413	CCDS31947.1	13q12.12	2011-05-08			ENSG00000205863	ENSG00000205863			34072	protein-coding gene	gene with protein product		614148				17544811	Standard	NM_001007537		Approved	CTRP9B	uc010tcv.1	B2RNN3	OTTHUMG00000016570	ENST00000382140.2:c.399T>C	13.37:g.24466031A>G						MIPEP_uc001uox.3_5'Flank|PCOTH_uc001uoy.2_Silent_p.P95P|PCOTH_uc009zzx.2_Silent_p.P104P|C1QTNF9B_uc010tcv.1_Intron|C1QTNF9B_uc001uoz.1_Intron|C1QTNF9B_uc010tcx.1_Silent_p.T133T	p.T133T	NM_001007537	NP_001007538	B2RNN3	C1T9B_HUMAN			3	399	-			133			Collagen-like 2.		A2A3T6|B9EH31|Q0VGC5|Q5VX65|Q5VX66|Q8IUU4	Silent	SNP	ENST00000382140.2	37	c.399T>C	CCDS31947.1																																																																																				PASS	0.637	C1QTNF9B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044162.3	NM_001007537		19	62	19	62	---	---	---	---
MTIF3	219402	broad.mit.edu	37	13	28009633	28009633	+	IGR	SNP	A	A	G			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr13:28009633A>G	ENST00000381116.1	-	0	1104				MTIF3_ENST00000461838.1_5'Flank|GTF3A_ENST00000470606.1_3'UTR|GTF3A_ENST00000381140.4_Missense_Mutation_p.R333G			Q9H2K0	IF3M_HUMAN	mitochondrial translational initiation factor 3						formation of translation initiation complex (GO:0001732)|regulation of translational initiation (GO:0006446)|ribosome disassembly (GO:0032790)	mitochondrion (GO:0005739)	ribosomal small subunit binding (GO:0043024)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.R333G(1)		endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7		Lung SC(185;0.0161)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.108)|OV - Ovarian serous cystadenocarcinoma(117;0.157)		CCCTCCCAAAAGGAAACAAGG	0.438																																						uc001ure.2																			1	Substitution - Missense(1)		lung(1)		0						c.(997-999)AGG>GGG		transcription factor IIIA							85.0	74.0	77.0					13																	28009633		1568	3582	5150	SO:0001628	intergenic_variant	2971				regulation of transcription, DNA-dependent|rRNA transcription|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|protein binding|RNA binding|zinc ion binding	g.chr13:28009633A>G	BC046166	CCDS9322.1	13q12.2	2007-05-03			ENSG00000122033	ENSG00000122033			29788	protein-coding gene	gene with protein product						12095986	Standard	NM_152912		Approved	IF-3mt, IF3(mt)	uc001uri.3	Q9H2K0	OTTHUMG00000016633		13.37:g.28009633A>G						GTF3A_uc001urf.2_Missense_Mutation_p.R151G|GTF3A_uc001urg.2_RNA	p.R333G	NM_002097	NP_002088	Q92664	TF3A_HUMAN	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.11)|OV - Ovarian serous cystadenocarcinoma(117;0.158)	9	1191	+		Lung SC(185;0.0156)	333					Q05BL8|Q5W0V0|Q86X68	Missense_Mutation	SNP	ENST00000381116.1	37	c.997A>G	CCDS9322.1	.	.	.	.	.	.	.	.	.	.	A	13.77	2.337611	0.41398	.	.	ENSG00000122034	ENST00000381140;ENST00000439403	T;T	0.09445	2.98;3.1	5.55	-1.78	0.07957	.	0.814062	0.11614	N	0.546491	T	0.04137	0.0115	N	0.11427	0.14	0.29186	N	0.876182	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.001	T	0.38457	-0.9660	9	0.48119	T	0.1	-4.4899	0.2048	0.00149	0.3309:0.239:0.2039:0.2262	.	308;333	Q92664-2;Q92664	.;TF3A_HUMAN	G	333;146	ENSP00000370532:R333G;ENSP00000393050:R146G	ENSP00000370532:R333G	R	+	1	2	GTF3A	26907633	0.000000	0.05858	0.026000	0.17262	0.961000	0.63080	0.228000	0.17814	-0.167000	0.10871	0.533000	0.62120	AGG		PASS	0.438	MTIF3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044300.1	NM_152912		24	24	24	24	---	---	---	---
PCDH17	27253	broad.mit.edu	37	13	58207462	58207462	+	Missense_Mutation	SNP	T	T	A			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr13:58207462T>A	ENST00000377918.3	+	1	808	c.782T>A	c.(781-783)gTg>gAg	p.V261E		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	261	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V261E(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CTGGGTACAGTGGTCATCGAT	0.582																																					Melanoma(72;952 1291 1619 12849 33676)	uc001vhq.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7						c.(781-783)GTG>GAG		protocadherin 17 precursor							74.0	63.0	67.0					13																	58207462		2203	4300	6503	SO:0001583	missense	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58207462T>A	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.782T>A	13.37:g.58207462T>A	ENSP00000367151:p.Val261Glu					PCDH17_uc010aec.1_Missense_Mutation_p.V261E	p.V261E	NM_001040429	NP_001035519	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	1	1674	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	261			Extracellular (Potential).|Cadherin 3.		A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	ENST00000377918.3	37	c.782T>A	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	T	11.61	1.689424	0.29962	.	.	ENSG00000118946	ENST00000377918	T	0.47177	0.85	4.87	3.69	0.42338	Cadherin (4);Cadherin-like (1);	0.265105	0.37136	N	0.002237	T	0.35422	0.0931	N	0.17564	0.495	0.38578	D	0.95011	B;P	0.34699	0.409;0.464	B;P	0.44647	0.444;0.456	T	0.20207	-1.0282	9	.	.	.	.	6.8404	0.23959	0.0:0.2304:0.0:0.7696	.	261;261	O14917-2;O14917	.;PCD17_HUMAN	E	261	ENSP00000367151:V261E	.	V	+	2	0	PCDH17	57105463	1.000000	0.71417	0.991000	0.47740	0.468000	0.32798	4.851000	0.62896	0.906000	0.36621	0.528000	0.53228	GTG		PASS	0.582	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		70	141	70	141	---	---	---	---
LTB4R2	56413	broad.mit.edu	37	14	24780888	24780888	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr14:24780888C>T	ENST00000528054.1	+	1	2728	c.1111C>T	c.(1111-1113)Cgc>Tgc	p.R371C	CIDEB_ENST00000336557.5_5'Flank|CIDEB_ENST00000258807.5_5'Flank|LTB4R2_ENST00000543919.1_Missense_Mutation_p.R340C|LTB4R_ENST00000345363.3_5'UTR|CIDEB_ENST00000555817.1_5'Flank|LTB4R_ENST00000396789.4_5'Flank|LTB4R2_ENST00000533293.1_Missense_Mutation_p.R340C			Q9NPC1	LT4R2_HUMAN	leukotriene B4 receptor 2	371					chemotaxis (GO:0006935)|keratinocyte migration (GO:0051546)|negative regulation of adenylate cyclase activity (GO:0007194)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	leukotriene B4 receptor activity (GO:0001632)|leukotriene receptor activity (GO:0004974)	p.R371C(1)		endometrium(1)|lung(1)|ovary(1)	3				GBM - Glioblastoma multiforme(265;0.018)		GGGGCAGGGCCGCGGCAATGG	0.657																																						uc001woq.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1111-1113)CGC>TGC		leukotriene B4 receptor 2							32.0	40.0	38.0					14																	24780888		2195	4273	6468	SO:0001583	missense	56413				chemotaxis|negative regulation of adenylate cyclase activity	integral to plasma membrane		g.chr14:24780888C>T	AB008193	CCDS9625.1, CCDS9625.2	14q12	2014-04-11			ENSG00000213906	ENSG00000213906		"""GPCR / Class A : Leukotriene receptors"""	19260	protein-coding gene	gene with protein product		605773				11006272, 10934229	Standard	NM_001164692		Approved	BLTR2, BLT2, JULF2, NOP9	uc001wor.3	Q9NPC1	OTTHUMG00000186500	ENST00000528054.1:c.1111C>T	14.37:g.24780888C>T	ENSP00000432146:p.Arg371Cys					CIDEB_uc001woo.2_5'Flank|CIDEB_uc001wop.2_5'Flank|LTB4R2_uc001wor.2_Missense_Mutation_p.R340C|LTB4R_uc001wos.2_5'UTR|LTB4R_uc010alp.2_5'Flank	p.R371C	NM_019839	NP_062813	Q9NPC1	LT4R2_HUMAN		GBM - Glioblastoma multiforme(265;0.018)	1	2728	+			371			Cytoplasmic (Potential).		Q5KU28|Q9NPE5	Missense_Mutation	SNP	ENST00000528054.1	37	c.1111C>T		.	.	.	.	.	.	.	.	.	.	C	18.34	3.602113	0.66445	.	.	ENSG00000213906	ENST00000528054;ENST00000533293;ENST00000543919	T;T;T	0.69040	-0.37;-0.37;-0.37	4.81	-2.19	0.07015	.	2.087150	0.06990	U	0.821418	T	0.35158	0.0922	N	0.08118	0	0.19300	N	0.999974	D	0.56968	0.978	B	0.33799	0.17	T	0.33599	-0.9862	10	0.66056	D	0.02	.	3.6283	0.08121	0.2711:0.2696:0.3765:0.0828	.	371	Q9NPC1	LT4R2_HUMAN	C	371;340;340	ENSP00000432146:R371C;ENSP00000433290:R340C;ENSP00000445772:R340C	ENSP00000337731:R371C	R	+	1	0	LTB4R2	23850728	0.000000	0.05858	0.002000	0.10522	0.898000	0.52572	-1.286000	0.02788	-0.915000	0.03823	0.591000	0.81541	CGC		PASS	0.657	LTB4R2-001	KNOWN	basic|appris_principal|readthrough_transcript	protein_coding	protein_coding	OTTHUMT00000073194.4			166	113	166	113	---	---	---	---
C14orf166	51637	broad.mit.edu	37	14	52471216	52471216	+	Silent	SNP	G	G	A			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr14:52471216G>A	ENST00000261700.3	+	8	882	c.717G>A	c.(715-717)ctG>ctA	p.L239L	C14orf166_ENST00000556760.1_3'UTR	NM_016039.2	NP_057123.1	Q9Y224	CN166_HUMAN	chromosome 14 open reading frame 166	239					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|RNA transport (GO:0050658)|transcription, DNA-templated (GO:0006351)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|tRNA-splicing ligase complex (GO:0072669)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA polymerase II core binding (GO:0000993)	p.L239L(1)		endometrium(1)|large_intestine(3)|lung(2)	6	Breast(41;0.0639)|all_epithelial(31;0.101)					ACCACAGACTGGGAAAAGTTG	0.433																																						uc010aod.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(715-717)CTG>CTA		homeobox prox 1							77.0	80.0	79.0					14																	52471216		2202	4300	6502	SO:0001819	synonymous_variant	51637					microtubule organizing center|nucleus|perinuclear region of cytoplasm|tRNA-splicing ligase complex	identical protein binding	g.chr14:52471216G>A	AF151857	CCDS9705.1	14q22.1	2014-05-29			ENSG00000087302	ENSG00000087302			23169	protein-coding gene	gene with protein product	"""RLL motif containing 1"""	610858				10810093, 24608264	Standard	NM_016039		Approved	CGI-99, RLLM1, CLE, CLE7, LCRP369	uc010aod.3	Q9Y224	OTTHUMG00000152332	ENST00000261700.3:c.717G>A	14.37:g.52471216G>A						C14orf166_uc001wzm.3_Silent_p.L105L|C14orf166_uc001wzn.3_Silent_p.L101L	p.L239L	NM_016039	NP_057123	Q9Y224	CN166_HUMAN			8	847	+	Breast(41;0.0639)|all_epithelial(31;0.101)		239						Silent	SNP	ENST00000261700.3	37	c.717G>A	CCDS9705.1																																																																																				PASS	0.433	C14orf166-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276887.1	NM_016039		53	112	53	112	---	---	---	---
CGRRF1	10668	broad.mit.edu	37	14	54997721	54997721	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr14:54997721G>T	ENST00000216420.7	+	4	655	c.523G>T	c.(523-525)Gcg>Tcg	p.A175S	CGRRF1_ENST00000557512.1_3'UTR	NM_006568.2	NP_006559.1	Q99675	CGRF1_HUMAN	cell growth regulator with ring finger domain 1	175					cell cycle arrest (GO:0007050)|negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.A175S(1)		endometrium(3)|kidney(2)|lung(5)|ovary(2)|stomach(1)	13						TCCATTGGTAGCGCTATTGAC	0.343																																						uc001xay.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(523-525)GCG>TCG		cell growth regulator with ring finger domain 1							74.0	72.0	72.0					14																	54997721		2203	4300	6503	SO:0001583	missense	10668				cell cycle arrest|negative regulation of cell proliferation|response to stress		zinc ion binding	g.chr14:54997721G>T	BC015063	CCDS9719.1	14q22.2	2013-09-20			ENSG00000100532	ENSG00000100532		"""RING-type (C3HC4) zinc fingers"""	15528	protein-coding gene	gene with protein product		606138				8968090	Standard	NM_006568		Approved	CGR19, RNF197	uc001xay.3	Q99675	OTTHUMG00000140308	ENST00000216420.7:c.523G>T	14.37:g.54997721G>T	ENSP00000216420:p.Ala175Ser					CGRRF1_uc010tra.1_Missense_Mutation_p.A175S|CGRRF1_uc001xaz.2_RNA	p.A175S	NM_006568	NP_006559	Q99675	CGRF1_HUMAN			4	614	+			175					Q96BX2	Missense_Mutation	SNP	ENST00000216420.7	37	c.523G>T	CCDS9719.1	.	.	.	.	.	.	.	.	.	.	G	19.96	3.923094	0.73213	.	.	ENSG00000100532	ENST00000216420	T	0.27557	1.66	5.5	5.5	0.81552	.	0.045142	0.85682	D	0.000000	T	0.53514	0.1801	M	0.63843	1.955	0.58432	D	0.999995	D;P	0.67145	0.996;0.856	D;B	0.66351	0.943;0.393	T	0.45977	-0.9224	10	0.46703	T	0.11	-9.0322	19.5916	0.95514	0.0:0.0:1.0:0.0	.	175;175	B2RCX4;Q99675	.;CGRF1_HUMAN	S	175	ENSP00000216420:A175S	ENSP00000216420:A175S	A	+	1	0	CGRRF1	54067471	1.000000	0.71417	0.926000	0.36857	0.109000	0.19521	6.901000	0.75693	2.861000	0.98227	0.655000	0.94253	GCG		PASS	0.343	CGRRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276905.2	NM_006568		28	43	28	43	---	---	---	---
RGS6	9628	broad.mit.edu	37	14	72943476	72943476	+	Silent	SNP	C	C	T			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr14:72943476C>T	ENST00000553530.1	+	11	927	c.720C>T	c.(718-720)tcC>tcT	p.S240S	RGS6_ENST00000343854.6_Silent_p.S240S|RGS6_ENST00000555571.1_Silent_p.S240S|RGS6_ENST00000402788.2_Silent_p.S240S|RGS6_ENST00000404301.2_Silent_p.S240S|RGS6_ENST00000406236.4_Silent_p.S240S|RGS6_ENST00000556437.1_Silent_p.S240S|RGS6_ENST00000554782.1_Silent_p.S101S|RGS6_ENST00000407322.4_Silent_p.S240S|RGS6_ENST00000553525.1_Silent_p.S240S|RGS6_ENST00000355512.6_Silent_p.S240S|RGS6_ENST00000434263.2_Silent_p.S171S	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	240					G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of neuron differentiation (GO:0045666)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)	p.S240S(1)		endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		CTGAAGAGTCCCAGGCACAGA	0.512																																					Ovarian(143;1926 2468 21071 48641)	uc001xna.3																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|lung(1)|skin(1)	3						c.(718-720)TCC>TCT		regulator of G-protein signalling 6							124.0	106.0	112.0					14																	72943476		2203	4300	6503	SO:0001819	synonymous_variant	9628				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	g.chr14:72943476C>T	AF073920	CCDS9808.1, CCDS55924.1, CCDS73655.1	14q24.3	2008-07-28	2007-08-14			ENSG00000182732		"""Regulators of G-protein signaling"""	10002	protein-coding gene	gene with protein product		603894	"""regulator of G-protein signalling 6"""			10083744, 14734556	Standard	NM_004296		Approved		uc010ttn.2	P49758		ENST00000553530.1:c.720C>T	14.37:g.72943476C>T						RGS6_uc010ttn.1_Silent_p.S240S|RGS6_uc001xmx.3_Silent_p.S240S|RGS6_uc010tto.1_RNA|RGS6_uc001xmy.3_Silent_p.S240S|RGS6_uc010ttp.1_Silent_p.S171S|RGS6_uc001xmz.1_Silent_p.S101S	p.S240S	NM_004296	NP_004287	P49758	RGS6_HUMAN		all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)	11	1243	+			240					C9JE95|F8W7W5|O75576|O75577|Q7Z4K3|Q7Z4K4|Q7Z4K5|Q7Z4K6|Q8TE13|Q8TE14|Q8TE15|Q8TE16|Q8TE17|Q8TE18|Q8TE19|Q8TE20|Q8TE21|Q8TE22|Q9UDS8|Q9UDT0|Q9Y245|Q9Y647	Silent	SNP	ENST00000553530.1	37	c.720C>T	CCDS9808.1																																																																																				PASS	0.512	RGS6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413033.2			8	87	8	87	---	---	---	---
LTBP2	4053	broad.mit.edu	37	14	74972770	74972770	+	Silent	SNP	G	G	A			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr14:74972770G>A	ENST00000261978.4	-	28	4544	c.4158C>T	c.(4156-4158)tgC>tgT	p.C1386C	LTBP2_ENST00000556690.1_Silent_p.C1342C	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1386	EGF-like 16; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.C1386C(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CCCGTGGGCGGCAGTGCCCCT	0.627																																						uc001xqa.2																			1	Substitution - coding silent(1)		lung(1)	liver(1)|skin(1)	2						c.(4156-4158)TGC>TGT		latent transforming growth factor beta binding							74.0	73.0	73.0					14																	74972770		2203	4300	6503	SO:0001819	synonymous_variant	4053				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	g.chr14:74972770G>A		CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"""Latent transforming growth factor, beta binding proteins"""	6715	protein-coding gene	gene with protein product		602091	"""chromosome 14 open reading frame 141"""	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.4158C>T	14.37:g.74972770G>A							p.C1386C	NM_000428	NP_000419	Q14767	LTBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	28	4545	-			1386			EGF-like 16; calcium-binding (Potential).		Q99907|Q9NS51	Silent	SNP	ENST00000261978.4	37	c.4158C>T	CCDS9831.1																																																																																				PASS	0.627	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	NM_000428		6	357	6	357	---	---	---	---
PROX2	283571	broad.mit.edu	37	14	75330330	75330330	+	Missense_Mutation	SNP	T	T	C			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr14:75330330T>C	ENST00000445876.1	-	1	207	c.208A>G	c.(208-210)Acc>Gcc	p.T70A	PROX2_ENST00000556489.2_Missense_Mutation_p.T70A|PROX2_ENST00000556084.2_Missense_Mutation_p.T70A			Q3B8N5	PROX2_HUMAN	prospero homeobox 2	70					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.T70A(2)		kidney(1)|large_intestine(2)|lung(3)	6			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		CGGACAATGGTCTCCACTCTG	0.607																																						uc001xqr.1																			2	Substitution - Missense(2)		lung(2)		0						c.(208-210)ACC>GCC		prospero homeobox 2							51.0	52.0	52.0					14																	75330330		2048	4203	6251	SO:0001583	missense	283571				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr14:75330330T>C		CCDS45136.1, CCDS45136.2, CCDS73663.1	14q24.3	2012-10-02			ENSG00000119608	ENSG00000119608		"""Homeoboxes / PROS class"""	26715	protein-coding gene	gene with protein product		615094					Standard	NM_001080408		Approved	FLJ36749	uc031qpi.1	Q3B8N5	OTTHUMG00000171481	ENST00000445876.1:c.208A>G	14.37:g.75330330T>C	ENSP00000405932:p.Thr70Ala					PROX2_uc001xqq.1_5'UTR	p.T70A	NM_001080408	NP_001073877	Q3B8N5	PROX2_HUMAN	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)	1	208	-			70					C9J5W1|Q8N9Q3	Missense_Mutation	SNP	ENST00000445876.1	37	c.208A>G	CCDS45136.2	.	.	.	.	.	.	.	.	.	.	T	16.62	3.173467	0.57584	.	.	ENSG00000119608	ENST00000556489;ENST00000389664;ENST00000424024;ENST00000445876	T;T	0.46063	0.89;0.88	5.34	4.16	0.48862	.	0.121033	0.52532	D	0.000061	T	0.37517	0.1006	L	0.57536	1.79	0.29073	N	0.883188	P	0.35793	0.521	B	0.33121	0.158	T	0.30060	-0.9991	10	0.40728	T	0.16	.	11.2722	0.49147	0.0:0.0726:0.0:0.9274	.	70	G3V3G0	.	A	70	ENSP00000451223:T70A;ENSP00000405932:T70A	ENSP00000374315:T70A	T	-	1	0	PROX2	74400083	1.000000	0.71417	1.000000	0.80357	0.293000	0.27360	6.229000	0.72294	0.841000	0.35020	0.459000	0.35465	ACC		PASS	0.607	PROX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				12	41	12	41	---	---	---	---
ADCK1	57143	broad.mit.edu	37	14	78399617	78399617	+	Silent	SNP	C	C	T			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr14:78399617C>T	ENST00000238561.5	+	11	1554	c.1455C>T	c.(1453-1455)agC>agT	p.S485S	ADCK1_ENST00000341211.5_Silent_p.S417S|ADCK1_ENST00000556560.1_3'UTR	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	492						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.S485S(1)|p.S417S(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		TCTCTTTCAGCGAGGCCTTCA	0.478																																						uc001xui.2																			2	Substitution - coding silent(2)		lung(2)	stomach(2)|ovary(1)	3						c.(1453-1455)AGC>AGT		aarF domain containing kinase 1 isoform a							96.0	93.0	94.0					14																	78399617		2203	4300	6503	SO:0001819	synonymous_variant	57143					extracellular region	ATP binding|protein serine/threonine kinase activity	g.chr14:78399617C>T	AK096919	CCDS9869.1, CCDS45144.1	14q24	2005-10-30							19038	protein-coding gene	gene with protein product						12471243	Standard	NM_020421		Approved	FLJ39600	uc001xui.3	Q86TW2		ENST00000238561.5:c.1455C>T	14.37:g.78399617C>T						ADCK1_uc001xuj.2_Silent_p.S417S|ADCK1_uc001xul.2_Silent_p.S192S	p.S485S	NM_020421	NP_065154	Q86TW2	ADCK1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)	11	1554	+			492					B3KUD5|Q6PD65|Q9UIE6	Silent	SNP	ENST00000238561.5	37	c.1455C>T	CCDS9869.1																																																																																				PASS	0.478	ADCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413864.1	NM_020421		49	229	49	229	---	---	---	---
NRXN3	9369	broad.mit.edu	37	14	79933711	79933711	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr14:79933711C>G	ENST00000557594.1	+	2	1348	c.395C>G	c.(394-396)gCt>gGt	p.A132G	NRXN3_ENST00000428277.2_Missense_Mutation_p.A132G|NRXN3_ENST00000281127.7_Missense_Mutation_p.A132G|NRXN3_ENST00000554719.1_Missense_Mutation_p.A764G|NRXN3_ENST00000556003.1_3'UTR|NRXN3_ENST00000335750.5_Missense_Mutation_p.A764G	NM_001272020.1	NP_001258949.1	Q9HDB5	NRX3B_HUMAN	neurexin 3	132	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)	p.A764G(1)|p.A132G(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		ATCGACAGTGCTCCAGGACTT	0.557																																						uc001xun.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10						c.(2290-2292)GCT>GGT		neurexin 3 isoform 1 precursor							112.0	99.0	103.0					14																	79933711		2203	4300	6503	SO:0001583	missense	9369				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity	g.chr14:79933711C>G	AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000557594.1:c.395C>G	14.37:g.79933711C>G	ENSP00000451672:p.Ala132Gly					NRXN3_uc001xum.1_RNA|NRXN3_uc001xup.2_RNA|NRXN3_uc001xuq.2_Missense_Mutation_p.A132G|NRXN3_uc010asw.2_Missense_Mutation_p.A132G|NRXN3_uc001xur.3_Missense_Mutation_p.A132G	p.A764G	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)	13	2782	+		Renal(4;0.00876)	1137			Extracellular (Potential).|Laminin G-like 6.		A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	ENST00000557594.1	37	c.2291C>G		.	.	.	.	.	.	.	.	.	.	C	36	5.607037	0.96626	.	.	ENSG00000021645	ENST00000330071;ENST00000332068;ENST00000554719;ENST00000335750;ENST00000557594;ENST00000281127;ENST00000428277	T;T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11;-1.11	5.93	5.93	0.95920	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.86125	0.5858	M	0.68317	2.08	0.80722	D	1	P;P;P;P	0.51057	0.919;0.941;0.77;0.715	P;P;P;P	0.59288	0.814;0.855;0.596;0.635	D	0.84086	0.0387	9	.	.	.	.	20.3312	0.98718	0.0:1.0:0.0:0.0	.	132;132;132;764	Q9HDB5-4;Q9HDB5-2;Q9HDB5;Q9Y4C0-3	.;.;NRX3B_HUMAN;.	G	1137;1126;764;764;132;132;132	ENSP00000451648:A764G;ENSP00000338349:A764G;ENSP00000451672:A132G;ENSP00000281127:A132G;ENSP00000394426:A132G	.	A	+	2	0	NRXN3	79003464	1.000000	0.71417	0.910000	0.35882	0.967000	0.64934	7.806000	0.86020	2.797000	0.96272	0.655000	0.94253	GCT		PASS	0.557	NRXN3-004	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000413790.1	NM_001105250		75	123	75	123	---	---	---	---
DIO2	1734	broad.mit.edu	37	14	80669493	80669493	+	Nonsense_Mutation	SNP	C	C	A			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr14:80669493C>A	ENST00000557010.1	-	4	746	c.361G>T	c.(361-363)Gag>Tag	p.E121*	DIO2_ENST00000422005.3_Nonsense_Mutation_p.E121*|DIO2_ENST00000555750.1_Nonsense_Mutation_p.E157*|DIO2_ENST00000438257.4_Nonsense_Mutation_p.E121*|DIO2_ENST00000557125.1_Intron	NM_000793.5|NM_001242502.1|NM_001242503.1	NP_000784.2|NP_001229431.1|NP_001229432.1	Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II	121					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|selenocysteine incorporation (GO:0001514)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|thyroid hormone metabolic process (GO:0042403)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	selenium binding (GO:0008430)|thyroxine 5'-deiodinase activity (GO:0004800)|ubiquitin protein ligase binding (GO:0031625)	p.E157*(1)|p.E121*(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		AGTGGGCGCTCAGGGCTGGCA	0.562											OREG0022848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc010tvq.1																			2	Substitution - Nonsense(2)		lung(2)	central_nervous_system(1)	1						c.(361-363)GAG>TAG		deiodinase, iodothyronine, type II isoform a							49.0	52.0	51.0					14																	80669493		2068	4212	6280	SO:0001587	stop_gained	1734				hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding	g.chr14:80669493C>A	AF007144	CCDS45146.1, CCDS55934.1	14q24.2-q24.3	2014-05-02			ENSG00000211448	ENSG00000211448	1.97.1.10		2884	protein-coding gene	gene with protein product	"""thyroxine deiodinase, type II"", ""deiodonase-2"", ""deiodinase-2"""	601413				8755651, 10343107	Standard	NM_001007023		Approved	TXDI2, SelY	uc021rxb.1	Q92813	OTTHUMG00000171443	ENST00000557010.1:c.361G>T	14.37:g.80669493C>A	ENSP00000451419:p.Glu121*		OREG0022848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1200	DIO2_uc010tvp.1_Nonsense_Mutation_p.E157*|DIO2_uc001xut.2_RNA|DIO2_uc010asx.2_3'UTR|DIO2_uc010tvr.1_Nonsense_Mutation_p.E121*|DIO2_uc010asy.2_Nonsense_Mutation_p.E121*	p.E121*	NM_000793	NP_000784	Q92813	IOD2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0281)	3	763	-			121					B9EGK0|G3V315|Q6B0A3|Q9HCP8|Q9P1W4|Q9UDZ1	Nonsense_Mutation	SNP	ENST00000557010.1	37	c.361G>T	CCDS45146.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.716407	0.89205	.	.	ENSG00000211448	ENST00000438257;ENST00000557010;ENST00000422005;ENST00000555750	.	.	.	5.63	5.63	0.86233	.	0.171629	0.38217	N	0.001776	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	19.7517	0.96271	0.0:1.0:0.0:0.0	.	.	.	.	X	121;121;121;157	.	ENSP00000411438:E121X	E	-	1	0	DIO2	79739246	1.000000	0.71417	0.976000	0.42696	0.691000	0.40173	4.597000	0.61062	2.673000	0.90976	0.580000	0.79431	GAG		PASS	0.562	DIO2-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000413428.2			6	36	6	36	---	---	---	---
FLRT2	23768	broad.mit.edu	37	14	86089404	86089404	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr14:86089404G>A	ENST00000330753.4	+	2	2313	c.1546G>A	c.(1546-1548)Gcc>Acc	p.A516T	FLRT2_ENST00000554746.1_Missense_Mutation_p.A516T	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	516	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)	p.A516T(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		CACCACCCATGCCTCCTATCT	0.572																																						uc001xvr.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|haematopoietic_and_lymphoid_tissue(1)	4						c.(1546-1548)GCC>ACC		fibronectin leucine rich transmembrane protein 2							115.0	109.0	111.0					14																	86089404		2203	4300	6503	SO:0001583	missense	23768				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr14:86089404G>A	AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"""Fibronectin type III domain containing"""	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.1546G>A	14.37:g.86089404G>A	ENSP00000332879:p.Ala516Thr					FLRT2_uc010atd.2_Missense_Mutation_p.A516T	p.A516T	NM_013231	NP_037363	O43155	FLRT2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0319)	2	2313	+			516			Extracellular (Potential).		A0AV84|B7ZLP3	Missense_Mutation	SNP	ENST00000330753.4	37	c.1546G>A	CCDS9877.1	.	.	.	.	.	.	.	.	.	.	G	5.726	0.318447	0.10845	.	.	ENSG00000185070	ENST00000330753;ENST00000554746;ENST00000535800	T;T	0.56611	0.45;0.45	6.17	4.28	0.50868	.	0.165039	0.51477	D	0.000087	T	0.40423	0.1116	L	0.36672	1.1	0.35205	D	0.774631	B	0.13594	0.008	B	0.08055	0.003	T	0.45116	-0.9283	10	0.13470	T	0.59	-17.9928	13.7274	0.62767	0.0:0.1186:0.7578:0.1236	.	516	O43155	FLRT2_HUMAN	T	516;516;169	ENSP00000332879:A516T;ENSP00000451050:A516T	ENSP00000332879:A516T	A	+	1	0	FLRT2	85159157	0.999000	0.42202	0.908000	0.35775	0.334000	0.28698	2.298000	0.43602	1.604000	0.50143	0.655000	0.94253	GCC		PASS	0.572	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1			68	154	68	154	---	---	---	---
KCNK10	54207	broad.mit.edu	37	14	88651981	88651981	+	Silent	SNP	C	C	T	rs141080520	byFrequency	TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr14:88651981C>T	ENST00000340700.5	-	7	1966	c.1515G>A	c.(1513-1515)acG>acA	p.T505T	KCNK10_ENST00000319231.5_Silent_p.T510T|KCNK10_ENST00000312350.5_Silent_p.T510T	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	505					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.T510T(2)|p.T505T(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						GGATACAGTCCGTCAGCATGG	0.507													C|||	2	0.000399361	0.0015	0.0	5008	,	,		19654	0.0		0.0	False		,,,				2504	0.0					uc001xwo.2																			3	Substitution - coding silent(3)		lung(3)	ovary(2)|skin(2)|pancreas(1)	5						c.(1513-1515)ACG>ACA		potassium channel, subfamily K, member 10							156.0	150.0	152.0					14																	88651981		2203	4300	6503	SO:0001819	synonymous_variant	54207				signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr14:88651981C>T	AF279890	CCDS9880.1, CCDS9881.1, CCDS9882.1	14q31	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6273	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 97"""	605873				10880510, 16382106	Standard	NM_021161		Approved	K2p10.1, TREK-2, TREK2, PPP1R97	uc001xwn.3	P57789		ENST00000340700.5:c.1515G>A	14.37:g.88651981C>T						KCNK10_uc001xwm.2_Silent_p.T510T|KCNK10_uc001xwn.2_Silent_p.T510T	p.T505T	NM_021161	NP_066984	P57789	KCNKA_HUMAN			7	1972	-			505			Cytoplasmic (Potential).		B2R8T4|B2RCT3|B5TJL4|Q6B014|Q8TDK7|Q8TDK8|Q9HB59	Silent	SNP	ENST00000340700.5	37	c.1515G>A	CCDS9880.1																																																																																				PASS	0.507	KCNK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410167.1	NM_021161		54	275	54	275	---	---	---	---
GPR68	8111	broad.mit.edu	37	14	91700654	91700654	+	Silent	SNP	C	C	T			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr14:91700654C>T	ENST00000531499.2	-	2	1080	c.741G>A	c.(739-741)ttG>ttA	p.L247L	GPR68_ENST00000535815.1_Silent_p.L247L|GPR68_ENST00000238699.3_Silent_p.L257L|GPR68_ENST00000529300.1_5'Flank			Q15743	OGR1_HUMAN	G protein-coupled receptor 68	247					cellular response to pH (GO:0071467)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|negative regulation of monocyte differentiation (GO:0045656)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of osteoclast development (GO:2001206)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.L257L(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	8		all_cancers(154;0.0555)		COAD - Colon adenocarcinoma(157;0.21)		GCACCAGCAGCAACACGTGGT	0.637																																						uc001xzg.2																			1	Substitution - coding silent(1)		lung(1)	kidney(1)	1						c.(739-741)TTG>TTA		G protein-coupled receptor 68							33.0	20.0	24.0					14																	91700654		2189	4291	6480	SO:0001819	synonymous_variant	8111				inflammatory response	integral to plasma membrane	G-protein coupled receptor activity	g.chr14:91700654C>T	U48405	CCDS9894.1, CCDS9894.2	14q31	2012-08-21				ENSG00000119714		"""GPCR / Class A : Orphans"""	4519	protein-coding gene	gene with protein product		601404				8661159	Standard	NM_001177676		Approved	OGR1	uc001xzg.3	Q15743		ENST00000531499.2:c.741G>A	14.37:g.91700654C>T						GPR68_uc001xzh.2_Silent_p.L257L	p.L247L	NM_003485	NP_003476	Q15743	OGR1_HUMAN		COAD - Colon adenocarcinoma(157;0.21)	2	1082	-		all_cancers(154;0.0555)	247			Helical; Name=6; (Potential).		Q13334|Q4VBB4|Q6IX34	Silent	SNP	ENST00000531499.2	37	c.741G>A	CCDS9894.2																																																																																				PASS	0.637	GPR68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395245.2			4	11	4	11	---	---	---	---
CATSPERB	79820	broad.mit.edu	37	14	92105440	92105440	+	Splice_Site	SNP	C	C	T			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr14:92105440C>T	ENST00000256343.3	-	16	1743	c.1587G>A	c.(1585-1587)caG>caA	p.Q529Q		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	529					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|cilium (GO:0005929)|plasma membrane (GO:0005886)		p.Q529Q(1)		NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				ATATACTGACCTGTCCAAAAA	0.383																																						uc001xzs.1																			1	Substitution - coding silent(1)		lung(1)	breast(2)|skin(2)|ovary(1)	5						c.(1585-1587)CAG>CAA		cation channel, sperm-associated, beta							92.0	91.0	92.0					14																	92105440		2203	4300	6503	SO:0001630	splice_region_variant	79820				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr14:92105440C>T	AK024360	CCDS32142.1	14q32.12	2012-02-22	2012-02-22	2007-10-18	ENSG00000133962	ENSG00000133962			20500	protein-coding gene	gene with protein product		611169	"""chromosome 14 open reading frame 161"", ""cation channel, sperm-associated, beta"""	C14orf161		17478420	Standard	NM_024764		Approved	FLJ14298	uc001xzs.1	Q9H7T0	OTTHUMG00000171118	ENST00000256343.3:c.1587+1G>A	14.37:g.92105440C>T						CATSPERB_uc010aub.1_Silent_p.Q51Q	p.Q529Q	NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN			16	1727	-		all_cancers(154;0.0663)|all_epithelial(191;0.236)	529					A0AV51	Silent	SNP	ENST00000256343.3	37	c.1587G>A	CCDS32142.1																																																																																				PASS	0.383	CATSPERB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411769.1	NM_024764	Silent	19	85	19	85	---	---	---	---
TRIP11	9321	broad.mit.edu	37	14	92482168	92482168	+	Missense_Mutation	SNP	T	T	C			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr14:92482168T>C	ENST00000267622.4	-	6	1068	c.695A>G	c.(694-696)cAt>cGt	p.H232R		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	232					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.H232R(1)		breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TTCATGTTGATGGTCATCAAT	0.303			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)	uc001xzy.2				Dom	yes		14	14q31-q32	9321	T	thyroid hormone receptor interactor 11			L	PDGFRB		AML		1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1)	13						c.(694-696)CAT>CGT		thyroid hormone receptor interactor 11							152.0	130.0	137.0					14																	92482168		2203	4300	6503	SO:0001583	missense	9321				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity	g.chr14:92482168T>C	L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.695A>G	14.37:g.92482168T>C	ENSP00000267622:p.His232Arg					TRIP11_uc010auf.1_5'UTR	p.H232R	NM_004239	NP_004230	Q15643	TRIPB_HUMAN		COAD - Colon adenocarcinoma(157;0.223)	6	1483	-			232			Potential.		B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	ENST00000267622.4	37	c.695A>G	CCDS9899.1	.	.	.	.	.	.	.	.	.	.	T	19.00	3.741523	0.69304	.	.	ENSG00000100815	ENST00000267622	T	0.63913	-0.07	4.9	3.73	0.42828	.	0.056816	0.64402	D	0.000001	T	0.76666	0.4019	M	0.78049	2.395	0.39460	D	0.967555	D	0.89917	1.0	D	0.91635	0.999	T	0.76075	-0.3092	10	0.33141	T	0.24	.	12.0011	0.53230	0.0:0.0:0.145:0.855	.	232	Q15643	TRIPB_HUMAN	R	232	ENSP00000267622:H232R	ENSP00000267622:H232R	H	-	2	0	TRIP11	91551921	1.000000	0.71417	0.997000	0.53966	0.836000	0.47400	7.146000	0.77373	0.798000	0.33994	-0.478000	0.04885	CAT		PASS	0.303	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1			11	65	11	65	---	---	---	---
SERPINA3	12	broad.mit.edu	37	14	95080939	95080939	+	Missense_Mutation	SNP	T	T	G			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr14:95080939T>G	ENST00000467132.1	+	2	1309	c.161T>G	c.(160-162)gTg>gGg	p.V54G	RP11-986E7.7_ENST00000553947.1_3'UTR|SERPINA3_ENST00000393078.3_Missense_Mutation_p.V54G|SERPINA3_ENST00000393080.4_Missense_Mutation_p.V54G			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	54					acute-phase response (GO:0006953)|inflammatory response (GO:0006954)|maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of endopeptidase activity (GO:0010951)|regulation of lipid metabolic process (GO:0019216)|regulation of proteolysis (GO:0030162)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	DNA binding (GO:0003677)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.V54G(1)		NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		TCCGCCAACGTGGACTTCGCT	0.567																																						uc001ydp.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)|large_intestine(1)|skin(1)	6						c.(160-162)GTG>GGG		serpin peptidase inhibitor, clade A, member 3							127.0	118.0	121.0					14																	95080939		2203	4300	6503	SO:0001583	missense	12				acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity	g.chr14:95080939T>G	K01500	CCDS32150.1	14q32.1	2014-06-03	2005-08-18		ENSG00000196136	ENSG00000196136		"""Serine (or cysteine) peptidase inhibitors"""	16	protein-coding gene	gene with protein product		107280	"""alpha-1-antichymotrypsin"", ""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3"""	AACT		3260956, 24172014	Standard	NM_001085		Approved	ACT, alpha-1-antichymotrypsin	uc001ydp.3	P01011	OTTHUMG00000029851	ENST00000467132.1:c.161T>G	14.37:g.95080939T>G	ENSP00000450540:p.Val54Gly					SERPINA3_uc001ydo.3_Missense_Mutation_p.V79G|SERPINA3_uc010avf.1_RNA|SERPINA3_uc001ydr.2_RNA|SERPINA3_uc001ydq.2_Missense_Mutation_p.V54G|SERPINA3_uc001yds.2_Missense_Mutation_p.V54G|SERPINA3_uc010avg.2_Missense_Mutation_p.V54G	p.V54G	NM_001085	NP_001076	P01011	AACT_HUMAN		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)	2	240	+		all_cancers(154;0.0525)|all_epithelial(191;0.179)	54					B3KVQ7|Q13703|Q2TU87|Q2TU88|Q59GP9|Q6LBY8|Q6LDT7|Q6NSC9|Q8N177|Q96DW8|Q9UC47|Q9UNU9	Missense_Mutation	SNP	ENST00000467132.1	37	c.161T>G	CCDS32150.1	.	.	.	.	.	.	.	.	.	.	T	11.73	1.727105	0.30593	.	.	ENSG00000196136	ENST00000553947;ENST00000393078;ENST00000393080;ENST00000555820;ENST00000467132;ENST00000380354	D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79	5.04	2.19	0.27852	Serpin domain (2);	1.094080	0.06963	N	0.816711	T	0.68449	0.3002	N	0.04387	-0.21	0.28901	N	0.89326	B;B	0.22683	0.073;0.031	B;B	0.23574	0.047;0.028	T	0.60177	-0.7314	10	0.87932	D	0	.	9.9066	0.41379	0.0:0.7851:0.0:0.2149	.	54;79	P01011;G3V5I3	AACT_HUMAN;.	G	79;54;54;54;54;54	ENSP00000452367:V79G;ENSP00000376793:V54G;ENSP00000376795:V54G;ENSP00000450540:V54G	ENSP00000369712:V54G	V	+	2	0	SERPINA3	94150692	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.399000	0.20916	0.224000	0.20940	-0.441000	0.05720	GTG		PASS	0.567	SERPINA3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268080.3	NM_001085		83	217	83	217	---	---	---	---
PPP2R5C	5527	broad.mit.edu	37	14	102378761	102378761	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr14:102378761G>A	ENST00000334743.5	+	12	1325	c.1277G>A	c.(1276-1278)cGg>cAg	p.R426Q	PPP2R5C_ENST00000328724.5_Missense_Mutation_p.R481Q|PPP2R5C_ENST00000422945.2_Missense_Mutation_p.R457Q|PPP2R5C_ENST00000350249.3_Missense_Mutation_p.R426Q|PPP2R5C_ENST00000445439.3_Missense_Mutation_p.R426Q	NM_002719.3	NP_002710.2	Q13362	2A5G_HUMAN	protein phosphatase 2, regulatory subunit B', gamma	426					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of cell proliferation (GO:0008285)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	chromosome, centromeric region (GO:0000775)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)	p.R481Q(1)|p.R426Q(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						ATGAAAGAACGGGAAGAAGCA	0.393																																						uc001yko.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|breast(1)	2						c.(1276-1278)CGG>CAG		gamma isoform of regulatory subunit B56, protein							81.0	82.0	82.0					14																	102378761		2203	4300	6503	SO:0001583	missense	5527				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction	chromosome, centromeric region|nucleus|protein phosphatase type 2A complex	protein binding|protein binding|protein phosphatase type 2A regulator activity|protein phosphatase type 2A regulator activity	g.chr14:102378761G>A	L42375	CCDS9964.1, CCDS9965.1, CCDS45163.1, CCDS53911.1, CCDS53912.1	14q32.31	2010-06-18	2010-04-14		ENSG00000078304	ENSG00000078304		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9311	protein-coding gene	gene with protein product		601645	"""protein phosphatase 2, regulatory subunit B (B56), gamma isoform"", ""protein phosphatase 2, regulatory subunit B', gamma isoform"""			7592815	Standard	NM_002719		Approved	B56G, PR61G	uc001ykk.3	Q13362		ENST00000334743.5:c.1277G>A	14.37:g.102378761G>A	ENSP00000333905:p.Arg426Gln					PPP2R5C_uc010txr.1_Missense_Mutation_p.R457Q|PPP2R5C_uc001ykk.2_Missense_Mutation_p.R481Q|PPP2R5C_uc001ykn.2_Missense_Mutation_p.R426Q|PPP2R5C_uc001ykp.2_Missense_Mutation_p.R426Q|PPP2R5C_uc001ykq.2_3'UTR	p.R426Q	NM_002719	NP_002710	Q13362	2A5G_HUMAN			12	1417	+			426					B4DYJ8|B5BUA5|F5GWP3|Q14391|Q15060|Q15174|Q6ZN33	Missense_Mutation	SNP	ENST00000334743.5	37	c.1277G>A	CCDS9964.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.676299|5.676299	0.96764|0.96764	.|.	.|.	ENSG00000078304|ENSG00000078304	ENST00000555237|ENST00000422945;ENST00000328724;ENST00000557268;ENST00000350249;ENST00000445439;ENST00000334743	.|T;T;T;T;T	.|0.54866	.|0.56;0.56;0.56;0.6;0.55	5.58|5.58	5.58|5.58	0.84498|0.84498	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.76681|0.76681	0.4021|0.4021	M|M	0.87617|0.87617	2.895|2.895	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|0.998;0.998;1.0;0.998;0.998	.|D;P;D;P;P	.|0.67900	.|0.954;0.698;0.936;0.556;0.857	T|T	0.79140|0.79140	-0.1926|-0.1926	5|10	.|0.52906	.|T	.|0.07	-7.9708|-7.9708	19.5825|19.5825	0.95473|0.95473	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|457;426;426;426;481	.|F5GWP3;Q13362-3;Q13362;Q13362-2;Q6ZN33	.|.;.;2A5G_HUMAN;.;.	R|Q	51|457;481;455;426;426;426	.|ENSP00000412324:R457Q;ENSP00000329009:R481Q;ENSP00000450931:R455Q;ENSP00000262239:R426Q;ENSP00000333905:R426Q	.|ENSP00000329009:R481Q	G|R	+|+	1|2	0|0	PPP2R5C|PPP2R5C	101448514|101448514	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.974000|0.974000	0.67602|0.67602	9.684000|9.684000	0.98659|0.98659	2.624000|2.624000	0.88883|0.88883	0.655000|0.655000	0.94253|0.94253	GGG|CGG		PASS	0.393	PPP2R5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414373.2	NM_002719		7	226	7	226	---	---	---	---
IGHG1	3500	broad.mit.edu	37	14	106207942	106207942	+	RNA	SNP	G	G	T			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr14:106207942G>T	ENST00000390548.2	-	0	860							P01857	IGHG1_HUMAN	immunoglobulin heavy constant gamma 1 (G1m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										TGTAGAGGAAGAAGGAGCCGT	0.592																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.							156.0	110.0	125.0					14																	106207942		1991	4130	6121			8755							g.chr14:106207942G>T	J00228		14q32.33	2012-10-02			ENSG00000211896	ENSG00000211896		"""Immunoglobulins / IGH locus"""	5525	other	immunoglobulin gene		147100					Standard	NG_001019		Approved		uc001yse.3	P01857	OTTHUMG00000152495		14.37:g.106207942G>T						uc001yrs.2_Intron|uc001yrt.2_Intron|uc001yrw.1_Intron|uc001yrx.1_Intron|uc001yrz.1_Intron|uc001yse.2_Missense_Mutation_p.F153L|uc001ysf.2_Missense_Mutation_p.F153L								3628		-									RNA	SNP	ENST00000390548.2	37	c.59175C>A																																																																																					PASS	0.592	IGHG1-002	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_candidate_longest	IG_C_gene	IG_C_gene	OTTHUMT00000326504.1	NG_001019		182	356	182	356	---	---	---	---
IGHV3-43	28426	broad.mit.edu	37	14	106926231	106926231	+	RNA	SNP	C	C	A	rs182842897	byFrequency	TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr14:106926231C>A	ENST00000434710.1	-	0	390									immunoglobulin heavy variable 3-43																		AGTTCTCAGACTGTTCATTTG	0.493																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.							303.0	215.0	244.0					14																	106926231		2036	4182	6218			8755							g.chr14:106926231C>A	M99672		14q32.33	2012-02-08			ENSG00000232216	ENSG00000232216		"""Immunoglobulins / IGH locus"""	5604	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152094		14.37:g.106926231C>A						uc010tyu.1_Intron								235		-									RNA	SNP	ENST00000434710.1	37	c.10324G>T																																																																																					PASS	0.493	IGHV3-43-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325191.1	NG_001019		98	467	98	467	---	---	---	---
HERC2P3	283755	broad.mit.edu	37	15	20643996	20643996	+	RNA	SNP	C	C	A			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr15:20643996C>A	ENST00000428453.1	-	0	3463							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)	p.G925V(1)		central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						ACCATCGATGCCTCCAACCAC	0.582																																						uc001ytg.2																			1	Substitution - Missense(1)		lung(1)								c.(2773-2775)GGC>GTC		RecName: Full=Putative HERC2-like protein 3;																																						0							g.chr15:20643996C>A	AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20643996C>A						uc010tyx.1_RNA|uc001yth.3_Missense_Mutation_p.G925V	p.G925V							23	3483	-									Missense_Mutation	SNP	ENST00000428453.1	37	c.2774G>T																																																																																					PASS	0.582	HERC2P3-014	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347772.2	NG_008269		19	55	19	55	---	---	---	---
NPAP1	23742	broad.mit.edu	37	15	24921807	24921807	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr15:24921807C>A	ENST00000329468.2	+	1	1267	c.793C>A	c.(793-795)Cca>Aca	p.P265T		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	265					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)		p.P265T(1)									GCCCCCTGAGCCAGCCGTTGG	0.637																																						uc001ywo.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8						c.(793-795)CCA>ACA		hypothetical protein LOC23742							31.0	35.0	34.0					15																	24921807		2203	4297	6500	SO:0001583	missense	23742				cell differentiation|multicellular organismal development|spermatogenesis			g.chr15:24921807C>A	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.793C>A	15.37:g.24921807C>A	ENSP00000333735:p.Pro265Thr						p.P265T	NM_018958	NP_061831	Q9NZP6	CO002_HUMAN		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)	1	1267	+		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)	265						Missense_Mutation	SNP	ENST00000329468.2	37	c.793C>A	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	11.88	1.770575	0.31320	.	.	ENSG00000185823	ENST00000329468	T	0.16196	2.36	1.39	-0.814	0.10846	.	0.885554	0.09194	N	0.835606	T	0.22205	0.0535	L	0.47190	1.495	0.09310	N	1	D	0.62365	0.991	P	0.56563	0.801	T	0.15464	-1.0436	10	0.59425	D	0.04	.	2.6616	0.05028	0.0:0.4681:0.3113:0.2206	.	265	Q9NZP6	CO002_HUMAN	T	265	ENSP00000333735:P265T	ENSP00000333735:P265T	P	+	1	0	C15orf2	22472900	0.000000	0.05858	0.003000	0.11579	0.014000	0.08584	-0.482000	0.06544	-0.228000	0.09869	0.436000	0.28706	CCA		PASS	0.637	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		15	110	15	110	---	---	---	---
C15orf41	84529	broad.mit.edu	37	15	36946308	36946308	+	Silent	SNP	T	T	C			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr15:36946308T>C	ENST00000566621.1	+	4	472	c.222T>C	c.(220-222)aaT>aaC	p.N74N	C15orf41_ENST00000437989.2_Silent_p.N74N|C15orf41_ENST00000338183.4_5'UTR|RP11-16L14.2_ENST00000565366.1_RNA|C15orf41_ENST00000567389.1_5'UTR|C15orf41_ENST00000562877.1_5'UTR|C15orf41_ENST00000569302.1_Silent_p.N74N	NM_001130010.1	NP_001123482.1	Q9Y2V0	CO041_HUMAN	chromosome 15 open reading frame 41	74								p.N74N(1)		kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		all_epithelial(112;3.06e-10)|Lung NSC(122;6.48e-08)|all_lung(180;8.31e-07)|Melanoma(134;0.222)		all cancers(64;1.76e-19)|GBM - Glioblastoma multiforme(113;5.03e-07)|BRCA - Breast invasive adenocarcinoma(123;0.11)		GGTACCTGAATGGAGTGGTGA	0.453																																						uc001zje.3																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(220-222)AAT>AAC		hypothetical protein LOC84529 isoform 1							100.0	89.0	92.0					15																	36946308		1566	3578	5144	SO:0001819	synonymous_variant	84529						protein binding	g.chr15:36946308T>C	BC006254	CCDS45215.1, CCDS45216.1	15q14	2012-05-31			ENSG00000186073	ENSG00000186073			26929	protein-coding gene	gene with protein product		615626					Standard	XM_005254719		Approved	HH114, MGC11326, FLJ22851	uc001zje.4	Q9Y2V0	OTTHUMG00000172659	ENST00000566621.1:c.222T>C	15.37:g.36946308T>C						C15orf41_uc001zjd.2_Silent_p.N74N|C15orf41_uc010bbb.1_5'UTR|C15orf41_uc001zjf.2_5'UTR|C15orf41_uc010uci.1_5'UTR	p.N74N	NM_001130010	NP_001123482	Q9Y2V0	CO041_HUMAN		all cancers(64;1.76e-19)|GBM - Glioblastoma multiforme(113;5.03e-07)|BRCA - Breast invasive adenocarcinoma(123;0.11)	4	472	+		all_epithelial(112;3.06e-10)|Lung NSC(122;6.48e-08)|all_lung(180;8.31e-07)|Melanoma(134;0.222)	74					B2RD87	Silent	SNP	ENST00000566621.1	37	c.222T>C	CCDS45215.1																																																																																				PASS	0.453	C15orf41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419741.1	NM_032499		4	24	4	24	---	---	---	---
SLC28A2	9153	broad.mit.edu	37	15	45556870	45556870	+	Silent	SNP	G	G	A			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr15:45556870G>A	ENST00000347644.3	+	7	671	c.606G>A	c.(604-606)gtG>gtA	p.V202V	CTD-2651B20.3_ENST00000561404.1_RNA|CTD-2651B20.3_ENST00000560344.1_RNA	NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 2	202					nucleobase-containing compound metabolic process (GO:0006139)|purine nucleoside transmembrane transport (GO:0015860)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside:sodium symporter activity (GO:0005415)|purine nucleoside transmembrane transporter activity (GO:0015211)	p.V202V(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)	Mercaptopurine(DB01033)	GGAGGACAGTGTTTTCGGGCC	0.433																																					NSCLC(92;493 1501 26361 28917 47116)	uc001zva.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)	4						c.(604-606)GTG>GTA		solute carrier family 28 (sodium-coupled							154.0	140.0	145.0					15																	45556870		2198	4298	6496	SO:0001819	synonymous_variant	9153				nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity	g.chr15:45556870G>A	U84392	CCDS10121.1	15q15	2013-07-17	2013-07-17		ENSG00000137860	ENSG00000137860		"""Solute carriers"""	11002	protein-coding gene	gene with protein product		606208	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 2"""			9435697	Standard	NM_004212		Approved	CNT2, SPNT1, HCNT2, HsT17153	uc001zva.2	O43868	OTTHUMG00000131426	ENST00000347644.3:c.606G>A	15.37:g.45556870G>A							p.V202V	NM_004212	NP_004203	O43868	S28A2_HUMAN		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)	7	671	+		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)	202			Helical; (Potential).		A8K7F9|O43239|Q52LZ0	Silent	SNP	ENST00000347644.3	37	c.606G>A	CCDS10121.1																																																																																				PASS	0.433	SLC28A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254219.2	NM_004212		89	172	89	172	---	---	---	---
COPS2	9318	broad.mit.edu	37	15	49425984	49425984	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr15:49425984C>G	ENST00000388901.5	-	9	992	c.919G>C	c.(919-921)Gaa>Caa	p.E307Q	COPS2_ENST00000299259.6_Missense_Mutation_p.E314Q|COPS2_ENST00000542928.1_Missense_Mutation_p.E243Q	NM_001143887.1|NM_004236.3	NP_001137359.1|NP_004227.1	P61201	CSN2_HUMAN	COP9 signalosome subunit 2	307	PCI.				cell proliferation (GO:0008283)|cullin deneddylation (GO:0010388)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)	signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)	p.E307Q(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(2)	18		all_lung(180;0.0428)		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)		GCTAAAATTTCTGGATCATTT	0.259																																					NSCLC(36;322 1063 10349 30082 48062)|Esophageal Squamous(122;685 1633 15569 21293 52803)	uc001zxf.2																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(919-921)GAA>CAA		COP9 constitutive photomorphogenic homolog							49.0	51.0	51.0					15																	49425984		2196	4293	6489	SO:0001583	missense	9318				cullin deneddylation|transcription from RNA polymerase II promoter	cytoplasm|signalosome	protein binding|signal transducer activity	g.chr15:49425984C>G	AF212227	CCDS32235.1, CCDS45257.1	15q21.2	2013-03-14	2013-03-14						30747	protein-coding gene	gene with protein product		604508	"""COP9 constitutive photomorphogenic homolog subunit 2 (Arabidopsis)"""			7776974, 9535219	Standard	NM_004236		Approved	TRIP15, ALIEN, CSN2	uc001zxh.3	P61201		ENST00000388901.5:c.919G>C	15.37:g.49425984C>G	ENSP00000373553:p.Glu307Gln					COPS2_uc001zxh.2_Missense_Mutation_p.E314Q|COPS2_uc010ufa.1_Missense_Mutation_p.E243Q	p.E307Q	NM_004236	NP_004227	P61201	CSN2_HUMAN		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)	9	998	-		all_lung(180;0.0428)	307			PCI.		O88950|Q15647|Q6FGP4|Q9BY54|Q9R249|Q9UNI2|Q9UNQ5	Missense_Mutation	SNP	ENST00000388901.5	37	c.919G>C	CCDS32235.1	.	.	.	.	.	.	.	.	.	.	C	16.56	3.158327	0.57368	.	.	ENSG00000166200	ENST00000299259;ENST00000388901;ENST00000542928	T;T;T	0.79454	-1.27;-0.86;-1.27	5.93	5.93	0.95920	PCI/PINT associated module (1);	0.000000	0.85682	D	0.000000	T	0.73489	0.3593	L	0.39397	1.21	0.80722	D	1	B;B;B	0.26975	0.165;0.165;0.165	B;B;B	0.29077	0.056;0.098;0.056	T	0.66744	-0.5846	10	0.26408	T	0.33	-15.9869	20.3465	0.98790	0.0:1.0:0.0:0.0	.	243;315;307	B4DIH5;Q59EL2;P61201	.;.;CSN2_HUMAN	Q	314;307;243	ENSP00000299259:E314Q;ENSP00000373553:E307Q;ENSP00000443664:E243Q	ENSP00000299259:E314Q	E	-	1	0	COPS2	47213276	1.000000	0.71417	1.000000	0.80357	0.792000	0.44763	7.794000	0.85869	2.798000	0.96311	0.655000	0.94253	GAA		PASS	0.259	COPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417840.1	NM_004236		6	52	6	52	---	---	---	---
ATP8B4	79895	broad.mit.edu	37	15	50366359	50366359	+	Missense_Mutation	SNP	T	T	A			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr15:50366359T>A	ENST00000284509.6	-	3	193	c.52A>T	c.(52-54)Aat>Tat	p.N18Y	ATP8B4_ENST00000559829.1_Missense_Mutation_p.N18Y	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	18						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.N18Y(1)		breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TCACGGTCATTGGCTTTCACT	0.363																																						uc001zxu.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|breast(2)|large_intestine(1)	8						c.(52-54)AAT>TAT		ATPase class I type 8B member 4							208.0	179.0	189.0					15																	50366359		2196	4294	6490	SO:0001583	missense	79895				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:50366359T>A	AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"""ATPases / P-type"""	13536	protein-coding gene	gene with protein product		609123	"""ATPase, Class I, type 8B, member 4"""			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.52A>T	15.37:g.50366359T>A	ENSP00000284509:p.Asn18Tyr					ATP8B4_uc010ber.2_5'UTR|ATP8B4_uc010ufd.1_5'UTR|ATP8B4_uc010ufe.1_RNA	p.N18Y	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)	3	194	-		all_lung(180;0.00183)	18			Cytoplasmic (Potential).		Q9H727	Missense_Mutation	SNP	ENST00000284509.6	37	c.52A>T	CCDS32238.1	.	.	.	.	.	.	.	.	.	.	T	18.80	3.701725	0.68501	.	.	ENSG00000104043	ENST00000284509	T	0.75704	-0.96	5.15	5.15	0.70609	.	0.400023	0.18720	N	0.133048	D	0.89347	0.6689	H	0.95982	3.75	0.42300	D	0.992179	D	0.89917	1.0	D	0.67548	0.952	D	0.91686	0.5362	10	0.87932	D	0	.	11.3524	0.49596	0.0:0.0:0.0:1.0	.	18	Q8TF62	AT8B4_HUMAN	Y	18	ENSP00000284509:N18Y	ENSP00000284509:N18Y	N	-	1	0	ATP8B4	48153651	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.719000	0.61937	1.942000	0.56320	0.528000	0.53228	AAT		PASS	0.363	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	NM_024837		100	148	100	148	---	---	---	---
MYO1E	4643	broad.mit.edu	37	15	59519708	59519708	+	Missense_Mutation	SNP	T	T	C			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr15:59519708T>C	ENST00000288235.4	-	7	991	c.592A>G	c.(592-594)Agg>Ggg	p.R198G	MYO1E_ENST00000558814.1_5'UTR	NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	198	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)	p.R198G(1)		breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		ATCACCACCCTAGATTTTTCC	0.438																																						uc002aga.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)	3						c.(592-594)AGG>GGG		myosin IE							104.0	104.0	104.0					15																	59519708		2190	4290	6480	SO:0001583	missense	4643				actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity	g.chr15:59519708T>C	U14391	CCDS32254.1	15q21-q22	2011-09-27				ENSG00000157483		"""Myosins / Myosin superfamily : Class I"""	7599	protein-coding gene	gene with protein product	"""myosin-IC"""	601479				8884266	Standard	NM_004998		Approved	MYO1C, HuncM-IC, MGC104638	uc002aga.4	Q12965		ENST00000288235.4:c.592A>G	15.37:g.59519708T>C	ENSP00000288235:p.Arg198Gly						p.R198G	NM_004998	NP_004989	Q12965	MYO1E_HUMAN		all cancers(107;0.207)	7	964	-			198			Myosin head-like.		Q14778	Missense_Mutation	SNP	ENST00000288235.4	37	c.592A>G	CCDS32254.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.418773	0.83559	.	.	ENSG00000157483	ENST00000288235	D	0.96885	-4.16	6.02	2.1	0.27182	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.99026	0.9667	H	0.99834	4.825	0.80722	D	1	D	0.56287	0.975	D	0.67103	0.949	D	0.99041	1.0824	10	0.87932	D	0	.	15.581	0.76439	0.0:0.0:0.6934:0.3066	.	198	Q12965	MYO1E_HUMAN	G	198	ENSP00000288235:R198G	ENSP00000288235:R198G	R	-	1	2	MYO1E	57307000	1.000000	0.71417	0.985000	0.45067	0.992000	0.81027	2.838000	0.48199	0.447000	0.26695	0.533000	0.62120	AGG		PASS	0.438	MYO1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416024.1	NM_004998		97	133	97	133	---	---	---	---
CELF6	60677	broad.mit.edu	37	15	72582591	72582591	+	Nonsense_Mutation	SNP	G	G	A			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr15:72582591G>A	ENST00000569547.1	-	4	471	c.400C>T	c.(400-402)Cga>Tga	p.R134*	CELF6_ENST00000539635.1_5'UTR|CELF6_ENST00000543764.2_Nonsense_Mutation_p.R19*|CELF6_ENST00000395258.2_Nonsense_Mutation_p.R21*|RP11-106M3.2_ENST00000379915.4_RNA|CELF6_ENST00000567083.1_Nonsense_Mutation_p.R134*|RP11-106M3.3_ENST00000570175.1_RNA|CELF6_ENST00000287202.5_Nonsense_Mutation_p.R134*|CELF6_ENST00000569311.1_5'UTR			Q96J87	CELF6_HUMAN	CUGBP, Elav-like family member 6	134	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.R134*(2)		breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(2)	13						AACAGCTTTCGGTCCTCTGGG	0.602																																						uc002auh.2																			2	Substitution - Nonsense(2)	p.R134*(1)	large_intestine(1)|lung(1)	large_intestine(1)|central_nervous_system(1)|skin(1)	3						c.(400-402)CGA>TGA		bruno-like 6, RNA binding protein							47.0	40.0	42.0					15																	72582591		2199	4297	6496	SO:0001587	stop_gained	60677				mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr15:72582591G>A	AF425606	CCDS10242.1, CCDS53955.1, CCDS53956.1	15q24	2013-02-12	2010-02-19	2010-02-19	ENSG00000140488	ENSG00000140488		"""RNA binding motif (RRM) containing"""	14059	protein-coding gene	gene with protein product		612681	"""Bruno (Drosophila) -like 6, RNA binding protein"", ""bruno-like 6, RNA binding protein (Drosophila)"""	BRUNOL6		10893231	Standard	NM_052840		Approved		uc002auh.2	Q96J87	OTTHUMG00000133444	ENST00000569547.1:c.400C>T	15.37:g.72582591G>A	ENSP00000454749:p.Arg134*					uc002aug.2_Intron|CELF6_uc002auk.3_RNA|CELF6_uc010biv.1_RNA|CELF6_uc010biw.2_Nonsense_Mutation_p.R21*|CELF6_uc010ukl.1_Nonsense_Mutation_p.R19*|CELF6_uc010ukm.1_Nonsense_Mutation_p.R134*|CELF6_uc002aui.2_Nonsense_Mutation_p.R240*|CELF6_uc002auj.2_Nonsense_Mutation_p.R21*	p.R134*	NM_052840	NP_443072	Q96J87	CELF6_HUMAN			4	710	-			134			RRM 2.		B4DG28|B4DJB6|Q6PII4|Q6ZNJ7|Q8N607	Nonsense_Mutation	SNP	ENST00000569547.1	37	c.400C>T	CCDS10242.1	.	.	.	.	.	.	.	.	.	.	G	36	5.745040	0.96882	.	.	ENSG00000140488	ENST00000287202;ENST00000437872;ENST00000543764;ENST00000395258	.	.	.	5.41	3.32	0.38043	.	0.000000	0.64402	U	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.5034	10.4434	0.44479	0.0:0.0:0.4913:0.5087	.	.	.	.	X	134;134;19;21	.	ENSP00000287202:R134X	R	-	1	2	CELF6	70369645	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.366000	0.44204	1.247000	0.43917	0.561000	0.74099	CGA		PASS	0.602	CELF6-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000420180.1	NM_052840		10	61	10	61	---	---	---	---
TARSL2	123283	broad.mit.edu	37	15	102261359	102261359	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr15:102261359G>A	ENST00000335968.3	-	3	752	c.536C>T	c.(535-537)aCa>aTa	p.T179I		NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	179					threonyl-tRNA aminoacylation (GO:0006435)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)	p.T179I(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GTAAGGCGTTGTTTTCCAGAC	0.413																																						uc002bxm.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(535-537)ACA>ATA		threonyl-tRNA synthetase-like 2							286.0	266.0	273.0					15																	102261359		2203	4300	6503	SO:0001583	missense	123283				threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity	g.chr15:102261359G>A	AL833188	CCDS10394.1	15q26.3	2008-02-05			ENSG00000185418	ENSG00000185418			24728	protein-coding gene	gene with protein product							Standard	NM_152334		Approved	FLJ25005	uc002bxm.3	A2RTX5	OTTHUMG00000149869	ENST00000335968.3:c.536C>T	15.37:g.102261359G>A	ENSP00000338093:p.Thr179Ile					TARSL2_uc010usi.1_RNA	p.T179I	NM_152334	NP_689547	A2RTX5	SYTC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		3	591	-	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		179					B2RMP7|Q6B0A1|Q6IS76|Q96LW3|Q96MP4	Missense_Mutation	SNP	ENST00000335968.3	37	c.536C>T	CCDS10394.1	.	.	.	.	.	.	.	.	.	.	.	13.61	2.287697	0.40494	.	.	ENSG00000185418	ENST00000335968;ENST00000333018;ENST00000539112	.	.	.	4.92	4.01	0.46588	TGS-like (1);TGS (1);Beta-grasp fold, ferredoxin-type (1);	0.000000	0.85682	D	0.000000	T	0.77123	0.4084	M	0.81497	2.545	0.58432	D	0.999999	D	0.76494	0.999	D	0.79784	0.993	T	0.76756	-0.2842	9	0.37606	T	0.19	-17.0555	11.3441	0.49550	0.0901:0.0:0.9099:0.0	.	179	A2RTX5	SYTC2_HUMAN	I	179	.	ENSP00000329291:T179I	T	-	2	0	TARSL2	100078882	1.000000	0.71417	0.588000	0.28705	0.022000	0.10575	6.748000	0.74877	1.212000	0.43366	0.557000	0.71058	ACA		PASS	0.413	TARSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313619.3	NM_152334		299	409	299	409	---	---	---	---
PDZD9	255762	broad.mit.edu	37	16	21995838	21995838	+	Missense_Mutation	SNP	A	A	G			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr16:21995838A>G	ENST00000424898.2	-	4	607	c.545T>C	c.(544-546)aTc>aCc	p.I182T	PDZD9_ENST00000286143.6_Missense_Mutation_p.I120T|PDZD9_ENST00000537222.2_Missense_Mutation_p.I122T			Q8IXQ8	PDZD9_HUMAN	PDZ domain containing 9	182								p.I120T(1)		breast(3)|endometrium(2)|lung(3)|pancreas(1)	9						GTCTCTGGAGATGGATATTGG	0.368																																						uc002dka.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(358-360)ATC>ACC		hypothetical protein LOC255762							148.0	143.0	145.0					16																	21995838		2198	4300	6498	SO:0001583	missense	255762							g.chr16:21995838A>G	BC039562	CCDS10602.1, CCDS10602.2	16p12.1	2010-04-14	2010-04-14	2010-04-14	ENSG00000155714	ENSG00000155714			28740	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 65"""	C16orf65		12477932	Standard	NM_173806		Approved	MGC50721	uc021ter.1	Q8IXQ8	OTTHUMG00000131586	ENST00000424898.2:c.545T>C	16.37:g.21995838A>G	ENSP00000400514:p.Ile182Thr						p.I120T	NM_173806	NP_776167	Q8IXQ8	PDZD9_HUMAN			5	676	-			182					F5GWW8	Missense_Mutation	SNP	ENST00000424898.2	37	c.359T>C		.	.	.	.	.	.	.	.	.	.	A	19.98	3.926277	0.73327	.	.	ENSG00000155714	ENST00000424898;ENST00000537222;ENST00000286143;ENST00000521513	T	0.58652	0.32	5.43	5.43	0.79202	.	0.000000	0.64402	D	0.000011	T	0.72740	0.3498	M	0.66939	2.045	0.38977	D	0.958875	D	0.76494	0.999	D	0.83275	0.996	T	0.77427	-0.2592	10	0.87932	D	0	-16.9613	11.8674	0.52501	1.0:0.0:0.0:0.0	.	120	Q8IXQ8-2	.	T	182;122;120;122	ENSP00000400514:I182T	ENSP00000286143:I120T	I	-	2	0	PDZD9	21903339	1.000000	0.71417	0.937000	0.37676	0.991000	0.79684	2.739000	0.47409	2.056000	0.61249	0.460000	0.39030	ATC		PASS	0.368	PDZD9-003	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000381652.1	NM_173806		8	282	8	282	---	---	---	---
PALB2	79728	broad.mit.edu	37	16	23619309	23619309	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr16:23619309G>C	ENST00000261584.4	-	12	3378	c.3226C>G	c.(3226-3228)Cat>Gat	p.H1076D	CTD-2196E14.3_ENST00000561764.1_RNA	NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	1076	Interaction with RAD51, BRCA2 and POLH.|Required for interaction with POLH and POLH DNA synthesis stimulation.				DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|inner cell mass cell proliferation (GO:0001833)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|post-anal tail morphogenesis (GO:0036342)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.H1076D(1)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		GCACAGGGATGACTCAGGACA	0.443			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks																														uc002dlx.1			yes	Rec		"""Fanconi anaemia N, breast cancer susceptibility """	16	16p12.1	79728	F|N|Mis	partner and localizer of BRCA2			"""L, O, E"""		Wilms tumor|medulloblastoma|AML ,breast			1	Substitution - Missense(1)		lung(1)	lung(3)|breast(3)|ovary(2)|skin(1)|kidney(1)|pancreas(1)	11						c.(3226-3228)CAT>GAT	Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	partner and localizer of BRCA2							85.0	72.0	77.0					16																	23619309		2197	4300	6497	SO:0001583	missense	79728	Fanconi_Anemia_type_N|Fanconi_Anemia|PALB2-associated_Familial_Breast_and_Pancreatic_Cancer|Pancreatic_Cancer_Familial_Clustering_of			double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding	g.chr16:23619309G>C		CCDS32406.1	16p12.1	2014-09-17				ENSG00000083093		"""Fanconi anemia, complementation groups"""	26144	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group N"""	610355				16793542, 17200672	Standard	NM_024675		Approved	FLJ21816, FANCN	uc002dlx.1	Q86YC2		ENST00000261584.4:c.3226C>G	16.37:g.23619309G>C	ENSP00000261584:p.His1076Asp						p.H1076D	NM_024675	NP_078951	Q86YC2	PALB2_HUMAN		GBM - Glioblastoma multiforme(48;0.0167)	12	3426	-			1076			Interaction with RAD51 and BRCA2.|WD 5.		A6NIE1|Q8N7Y6|Q8ND31|Q9H6W1	Missense_Mutation	SNP	ENST00000261584.4	37	c.3226C>G	CCDS32406.1	.	.	.	.	.	.	.	.	.	.	G	16.57	3.159491	0.57368	.	.	ENSG00000083093	ENST00000261584	T	0.26660	1.72	6.14	6.14	0.99180	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.165265	0.43260	D	0.000588	T	0.48466	0.1501	M	0.64997	1.995	0.34286	D	0.682696	D	0.61080	0.989	D	0.64410	0.925	T	0.52480	-0.8570	10	0.42905	T	0.14	-8.9986	18.3535	0.90348	0.0:0.0:1.0:0.0	.	1076	Q86YC2	PALB2_HUMAN	D	1076	ENSP00000261584:H1076D	ENSP00000261584:H1076D	H	-	1	0	PALB2	23526810	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.708000	0.54845	2.937000	0.99478	0.650000	0.86243	CAT		PASS	0.443	PALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435287.2	NM_024675		20	111	20	111	---	---	---	---
MAPK3	5595	broad.mit.edu	37	16	30128291	30128291	+	Missense_Mutation	SNP	T	T	A			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr16:30128291T>A	ENST00000263025.4	-	7	1025	c.941A>T	c.(940-942)aAc>aTc	p.N314I	MAPK3_ENST00000484663.1_Missense_Mutation_p.N200I|MAPK3_ENST00000322266.5_Missense_Mutation_p.N270I|MAPK3_ENST00000395202.1_Missense_Mutation_p.N270I|MAPK3_ENST00000395199.3_Missense_Mutation_p.N314I|MAPK3_ENST00000395200.1_Missense_Mutation_p.N246I|MAPK3_ENST00000494643.1_5'Flank|MAPK3_ENST00000403394.1_Missense_Mutation_p.N314I	NM_002746.2	NP_002737.2	P27361	MK03_HUMAN	mitogen-activated protein kinase 3	314	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|caveolin-mediated endocytosis (GO:0072584)|cell cycle (GO:0007049)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage induced protein phosphorylation (GO:0006975)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|interleukin-1-mediated signaling pathway (GO:0070498)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MAPK cascade (GO:0000165)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apolipoprotein binding (GO:2000657)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of cytoskeleton organization (GO:0051493)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of stress-activated MAPK cascade (GO:0032872)|response to epidermal growth factor (GO:0070849)|response to exogenous dsRNA (GO:0043330)|sensory perception of pain (GO:0019233)|small GTPase mediated signal transduction (GO:0007264)|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 from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	caveola (GO:0005901)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|phosphatase binding (GO:0019902)	p.N314I(1)								Arsenic trioxide(DB01169)|Sulindac(DB00605)	TTTATTGGGGTTAAAGGTTAA	0.582																																						uc002dws.2																			1	Substitution - Missense(1)		lung(1)		0						c.(940-942)AAC>ATC		mitogen-activated protein kinase 3 isoform 1	Arsenic trioxide(DB01169)|Isoproterenol(DB01064)|Simvastatin(DB00641)|Sulindac(DB00605)						141.0	138.0	139.0					16																	30128291		2197	4300	6497	SO:0001583	missense	5595				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|cellular response to mechanical stimulus|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|interleukin-1-mediated signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|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|transcription initiation from RNA polymerase I promoter	cytosol|nucleoplasm	ATP binding|MAP kinase activity|phosphatase binding	g.chr16:30128291T>A	M84490	CCDS10672.1, CCDS42148.1, CCDS42149.1	16p11.2	2011-06-10			ENSG00000102882	ENSG00000102882	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6877	protein-coding gene	gene with protein product		601795		PRKM3		9628824	Standard	NM_001109891		Approved	ERK1, p44mapk, p44erk1	uc002dws.3	P27361	OTTHUMG00000132149	ENST00000263025.4:c.941A>T	16.37:g.30128291T>A	ENSP00000263025:p.Asn314Ile					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MAPK3_uc002dwr.2_Missense_Mutation_p.N200I|MAPK3_uc002dwv.3_Missense_Mutation_p.N270I|MAPK3_uc002dwt.2_Missense_Mutation_p.N314I|MAPK3_uc002dwu.2_RNA|MAPK3_uc010bzp.2_RNA	p.N314I	NM_002746	NP_002737	P27361	MK03_HUMAN			7	1041	-			314			Protein kinase.		A8CZ58|B0LPG3|Q8NHX1	Missense_Mutation	SNP	ENST00000263025.4	37	c.941A>T	CCDS10672.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.73|18.73	3.686520|3.686520	0.68157|0.68157	.|.	.|.	ENSG00000102882|ENSG00000102882	ENST00000263025;ENST00000484663;ENST00000322266;ENST00000403394;ENST00000395200;ENST00000395202;ENST00000478356;ENST00000395199|ENST00000495629	T;T;T;T;T;T;T;T|.	0.50277|.	0.75;0.75;0.75;0.75;0.75;0.75;2.56;0.75|.	5.88|5.88	3.62|3.62	0.41486|0.41486	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|.	0.85682|.	D|.	0.000000|.	T|T	0.66733|0.66733	0.2819|0.2819	M|M	0.81497|0.81497	2.545|2.545	0.80722|0.80722	D|D	1|1	D;D;D|.	0.59357|.	0.971;0.981;0.985|.	P;P;D|.	0.64144|.	0.828;0.872;0.922|.	T|T	0.63902|0.63902	-0.6532|-0.6532	10|5	0.87932|.	D|.	0|.	-1.2315|-1.2315	7.0912|7.0912	0.25285|0.25285	0.132:0.0723:0.0:0.7957|0.132:0.0723:0.0:0.7957	.|.	270;314;314|.	P27361-2;P27361-3;P27361|.	.;.;MK03_HUMAN|.	I|S	314;200;270;314;246;270;77;314|275	ENSP00000263025:N314I;ENSP00000432742:N200I;ENSP00000327293:N270I;ENSP00000384895:N314I;ENSP00000378626:N246I;ENSP00000378628:N270I;ENSP00000432292:N77I;ENSP00000378625:N314I|.	ENSP00000263025:N314I|.	N|T	-|-	2|1	0|0	MAPK3|MAPK3	30035792|30035792	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.701000|0.701000	0.40568|0.40568	7.856000|7.856000	0.86956|0.86956	0.474000|0.474000	0.27392|0.27392	-0.468000|-0.468000	0.05107|0.05107	AAC|ACC		PASS	0.582	MAPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255196.2			102	537	102	537	---	---	---	---
ZNF668	79759	broad.mit.edu	37	16	31073463	31073463	+	Silent	SNP	C	C	T			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr16:31073463C>T	ENST00000538906.1	-	3	1570	c.786G>A	c.(784-786)acG>acA	p.T262T	ZNF668_ENST00000426488.2_Silent_p.T285T|ZNF668_ENST00000535577.1_Silent_p.T262T|ZNF668_ENST00000539836.3_Silent_p.T285T|ZNF668_ENST00000300849.4_Silent_p.T262T|ZNF668_ENST00000564456.1_5'Flank|ZNF668_ENST00000394983.2_Silent_p.T262T	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	262					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T262T(1)|p.T285T(1)		breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						AACTGAGCTGCGTGAAGCCCT	0.687																																					Colon(181;1111 1980 5060 10512 25785)	uc010caf.2																			2	Substitution - coding silent(2)		lung(2)	breast(4)	4						c.(784-786)ACG>ACA		zinc finger protein 668							39.0	42.0	41.0					16																	31073463		2197	4299	6496	SO:0001819	synonymous_variant	79759				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:31073463C>T		CCDS10701.1, CCDS54003.1	16p11.2	2013-01-08			ENSG00000167394	ENSG00000167394		"""Zinc fingers, C2H2-type"""	25821	protein-coding gene	gene with protein product						12477932	Standard	NM_024706		Approved	FLJ13479	uc021tgt.1	Q96K58	OTTHUMG00000047357	ENST00000538906.1:c.786G>A	16.37:g.31073463C>T						ZNF668_uc002eao.2_Silent_p.T262T	p.T262T	NM_024706	NP_078982	Q96K58	ZN668_HUMAN			3	1143	-			262			C2H2-type 8.		C9JHH8|F5H7E7|Q59EV1|Q8N669|Q9H8L4	Silent	SNP	ENST00000538906.1	37	c.786G>A	CCDS10701.1	.	.	.	.	.	.	.	.	.	.	C	13.17	2.156207	0.38021	.	.	ENSG00000167394	ENST00000414399	T	0.53423	0.62	5.02	-3.69	0.04450	.	.	.	.	.	T	0.34193	0.0889	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.32534	-0.9903	5	.	.	.	-19.155	2.2303	0.03994	0.098:0.3002:0.2264:0.3754	.	.	.	.	T	102	ENSP00000412340:A102T	.	A	-	1	0	ZNF668	30980964	0.000000	0.05858	0.945000	0.38365	0.926000	0.56050	-2.820000	0.00749	-0.486000	0.06744	-0.137000	0.14449	GCA		PASS	0.687	ZNF668-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108516.2	NM_024706		22	142	22	142	---	---	---	---
ZNF646	9726	broad.mit.edu	37	16	31092149	31092149	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr16:31092149G>A	ENST00000394979.2	+	1	4927	c.4504G>A	c.(4504-4506)Gac>Aac	p.D1502N	ZNF646_ENST00000300850.5_Missense_Mutation_p.D1502N			O15015	ZN646_HUMAN	zinc finger protein 646	1502					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.D1502N(1)		NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						CCACGCTGGTGACTGCCAGCT	0.572																																						uc002eap.2																			1	Substitution - Missense(1)		lung(1)	breast(2)	2						c.(4504-4506)GAC>AAC		zinc finger protein 646							54.0	61.0	59.0					16																	31092149		2197	4300	6497	SO:0001583	missense	9726				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr16:31092149G>A	AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"""Zinc fingers, C2H2-type"""	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.4504G>A	16.37:g.31092149G>A	ENSP00000378429:p.Asp1502Asn						p.D1502N	NM_014699	NP_055514	O15015	ZN646_HUMAN			2	4793	+			1502					Q8IVD8	Missense_Mutation	SNP	ENST00000394979.2	37	c.4504G>A		.	.	.	.	.	.	.	.	.	.	G	0.040	-1.288334	0.01387	.	.	ENSG00000167395	ENST00000300850;ENST00000394979	T;T	0.08370	3.1;3.13	5.65	0.802	0.18686	.	.	.	.	.	T	0.02688	0.0081	N	0.01874	-0.695	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.48422	-0.9037	9	0.15952	T	0.53	-7.0353	6.4499	0.21898	0.2264:0.1334:0.6402:0.0	.	1502	O15015-2	.	N	1502	ENSP00000300850:D1502N;ENSP00000378429:D1502N	ENSP00000300850:D1502N	D	+	1	0	ZNF646	30999650	0.000000	0.05858	0.001000	0.08648	0.138000	0.21146	0.017000	0.13399	-0.071000	0.12886	0.650000	0.86243	GAC		PASS	0.572	ZNF646-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000108510.2	NM_014699		6	148	6	148	---	---	---	---
VPS35	55737	broad.mit.edu	37	16	46712999	46712999	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr16:46712999C>A	ENST00000299138.7	-	6	634	c.576G>T	c.(574-576)aaG>aaT	p.K192N	VPS35_ENST00000568642.1_5'Flank	NM_018206.4	NP_060676.2	Q96QK1	VPS35_HUMAN	vacuolar protein sorting 35 homolog (S. cerevisiae)	192					cell death (GO:0008219)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|retromer complex (GO:0030904)		p.K192N(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				GCACCCAGAGCTTGTTCATTT	0.408																																						uc002eef.3																			1	Substitution - Missense(1)		lung(1)		0						c.(574-576)AAG>AAT		vacuolar protein sorting 35							133.0	120.0	124.0					16																	46712999		2203	4300	6503	SO:0001583	missense	55737				protein transport|retrograde transport, endosome to Golgi	cytosol|endosome|membrane	protein binding	g.chr16:46712999C>A	AF175265	CCDS10721.1	16q12	2012-06-27	2006-12-19		ENSG00000069329	ENSG00000069329		"""Parkinson disease"""	13487	protein-coding gene	gene with protein product		601501	"""vacuolar protein sorting 35 (yeast homolog)"", ""vacuolar protein sorting 35 (yeast)"""			11112353, 21763482	Standard	NM_018206		Approved	FLJ10752, MEM3, PARK17	uc002eef.4	Q96QK1	OTTHUMG00000132542	ENST00000299138.7:c.576G>T	16.37:g.46712999C>A	ENSP00000299138:p.Lys192Asn					VPS35_uc002eed.2_Missense_Mutation_p.K13N|VPS35_uc002eee.2_Missense_Mutation_p.K153N	p.K192N	NM_018206	NP_060676	Q96QK1	VPS35_HUMAN			6	675	-		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)	192					Q561W2|Q9H016|Q9H096|Q9H4P3|Q9H8J0|Q9NRS7|Q9NVG2|Q9NX80|Q9NZK2	Missense_Mutation	SNP	ENST00000299138.7	37	c.576G>T	CCDS10721.1	.	.	.	.	.	.	.	.	.	.	.	18.06	3.540421	0.65085	.	.	ENSG00000069329	ENST00000299138;ENST00000541330	T	0.56941	0.43	5.13	0.978	0.19740	.	0.000000	0.85682	D	0.000000	T	0.76176	0.3951	H	0.94462	3.54	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.78420	-0.2211	10	0.72032	D	0.01	-22.3851	10.0652	0.42299	0.0:0.6541:0.0:0.3459	.	192;57	Q96QK1;F5GYF5	VPS35_HUMAN;.	N	192;57	ENSP00000299138:K192N	ENSP00000299138:K192N	K	-	3	2	VPS35	45270500	0.853000	0.29707	0.997000	0.53966	0.936000	0.57629	-0.020000	0.12525	0.282000	0.22254	-0.374000	0.07098	AAG		PASS	0.408	VPS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255742.3			17	78	17	78	---	---	---	---
ZNF423	23090	broad.mit.edu	37	16	49671045	49671045	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr16:49671045G>A	ENST00000561648.1	-	4	2071	c.2018C>T	c.(2017-2019)tCc>tTc	p.S673F	ZNF423_ENST00000562871.1_Missense_Mutation_p.S613F|ZNF423_ENST00000535559.1_Missense_Mutation_p.S556F|ZNF423_ENST00000563137.2_Missense_Mutation_p.S613F|ZNF423_ENST00000562520.1_Missense_Mutation_p.S613F|ZNF423_ENST00000567169.1_Missense_Mutation_p.S556F|ZNF423_ENST00000262383.2_Missense_Mutation_p.S673F	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	673					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S673F(2)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GGACTCCTGGGAGTCAAAGTC	0.562																																						uc002efs.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|lung(1)|kidney(1)|pancreas(1)	4						c.(2017-2019)TCC>TTC		zinc finger protein 423							58.0	57.0	57.0					16																	49671045		2198	4300	6498	SO:0001583	missense	23090				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr16:49671045G>A	AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"""Zinc fingers, C2H2-type"""	16762	protein-coding gene	gene with protein product	"""OLF-1/EBF associated zinc finger gene"", "" Smad- and Olf-interacting zinc finger protein"", ""early B-cell factor associated zinc finger protein"""	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.2018C>T	16.37:g.49671045G>A	ENSP00000455426:p.Ser673Phe					ZNF423_uc010vgn.1_Missense_Mutation_p.S556F	p.S673F	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN			5	2316	-		all_cancers(37;0.0155)	673			C2H2-type 15.		O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	ENST00000561648.1	37	c.2018C>T	CCDS32445.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.244273	0.59103	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.29397	1.57;1.57	4.86	4.86	0.63082	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.000000	0.85682	D	0.000000	T	0.47764	0.1463	L	0.43152	1.355	0.58432	D	0.999994	D	0.69078	0.997	D	0.71656	0.974	T	0.35822	-0.9773	9	.	.	.	.	18.0121	0.89227	0.0:0.0:1.0:0.0	.	673	Q2M1K9	ZN423_HUMAN	F	673;556	ENSP00000262383:S673F;ENSP00000442321:S556F	.	S	-	2	0	ZNF423	48228546	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.605000	0.82844	2.250000	0.74265	0.462000	0.41574	TCC		PASS	0.562	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069		33	201	33	201	---	---	---	---
CDH16	1014	broad.mit.edu	37	16	66947036	66947036	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr16:66947036G>A	ENST00000299752.4	-	9	1245	c.1052C>T	c.(1051-1053)cCa>cTa	p.P351L	CDH16_ENST00000394055.3_Missense_Mutation_p.P351L|CDH16_ENST00000568632.1_Missense_Mutation_p.P254L|CDH16_ENST00000565796.1_Missense_Mutation_p.P351L|CDH16_ENST00000570262.1_Missense_Mutation_p.P271L	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	351	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.P351L(1)		endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		TAGCTCACCTGGTGGACTGAG	0.577																																						uc002eql.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(1051-1053)CCA>CTA		cadherin 16 precursor							149.0	144.0	146.0					16																	66947036		2200	4300	6500	SO:0001583	missense	1014				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:66947036G>A	AF016272	CCDS10823.1, CCDS56002.1, CCDS58471.1, CCDS58472.1	16q22.1	2010-01-26			ENSG00000166589	ENSG00000166589		"""Cadherins / Major cadherins"""	1755	protein-coding gene	gene with protein product		603118				9721215, 7615566	Standard	NM_004062		Approved		uc002eql.3	O75309	OTTHUMG00000137518	ENST00000299752.4:c.1052C>T	16.37:g.66947036G>A	ENSP00000299752:p.Pro351Leu					CDH16_uc010cdy.2_Missense_Mutation_p.P351L|CDH16_uc002eqm.2_Missense_Mutation_p.P254L	p.P351L	NM_004062	NP_004053	O75309	CAD16_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)	9	1125	-		Ovarian(137;0.0563)	351			Extracellular (Potential).|Cadherin 4.		B4DPA8|H3BPD3|Q6UW93	Missense_Mutation	SNP	ENST00000299752.4	37	c.1052C>T	CCDS10823.1	.	.	.	.	.	.	.	.	.	.	G	8.445	0.851807	0.17034	.	.	ENSG00000166589	ENST00000394055;ENST00000299752;ENST00000544875	T;T	0.52526	0.66;0.66	5.12	2.09	0.27110	Cadherin (3);Cadherin-like (1);	0.495003	0.20975	N	0.082318	T	0.36580	0.0972	L	0.52905	1.665	0.44395	D	0.997305	P;P;P	0.40083	0.702;0.521;0.58	B;B;B	0.39217	0.294;0.272;0.272	T	0.11792	-1.0573	10	0.11485	T	0.65	-20.5445	7.5901	0.28017	0.27:0.0:0.73:0.0	.	351;351;351	O75309-2;B2R7S8;O75309	.;.;CAD16_HUMAN	L	351;351;315	ENSP00000377619:P351L;ENSP00000299752:P351L	ENSP00000299752:P351L	P	-	2	0	CDH16	65504537	1.000000	0.71417	0.998000	0.56505	0.170000	0.22686	1.548000	0.36201	0.284000	0.22305	-0.793000	0.03317	CCA		PASS	0.577	CDH16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268839.2	NM_004062		29	737	29	737	---	---	---	---
TRADD	8717	broad.mit.edu	37	16	67188649	67188649	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr16:67188649G>A	ENST00000345057.4	-	5	1310	c.842C>T	c.(841-843)aCg>aTg	p.T281M	TRADD_ENST00000566104.1_5'Flank|TRADD_ENST00000486556.1_Missense_Mutation_p.T221M	NM_003789.3	NP_003780.1	Q15628	TRADD_HUMAN	TNFRSF1A-associated via death domain	281	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.|Interaction with KRT14 and KRT18.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|positive regulation of apoptotic process (GO:0043065)|positive regulation of hair follicle development (GO:0051798)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein heterooligomerization (GO:0051291)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|nucleus (GO:0005634)|receptor complex (GO:0043235)	binding, bridging (GO:0060090)|death domain binding (GO:0070513)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|signal transducer activity (GO:0004871)	p.T281M(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		GCGCTGCAGCGTGGCGCGGCG	0.697																																						uc002eri.1																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(841-843)ACG>ATG		TNFRSF1A-associated via death domain							17.0	14.0	15.0					16																	67188649		2188	4278	6466	SO:0001583	missense	8717				activation of caspase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|tumor necrosis factor-mediated signaling pathway	cytoskeleton|cytosol|receptor complex	binding, bridging|death domain binding|identical protein binding|kinase binding|signal transducer activity	g.chr16:67188649G>A	L41690	CCDS10829.1	16q22	2008-07-28			ENSG00000102871	ENSG00000102871			12030	protein-coding gene	gene with protein product		603500				7758105	Standard	NM_003789		Approved	Hs.89862	uc002eri.1	Q15628	OTTHUMG00000137519	ENST00000345057.4:c.842C>T	16.37:g.67188649G>A	ENSP00000341268:p.Thr281Met					TRADD_uc002erh.1_Missense_Mutation_p.T221M	p.T281M	NM_003789	NP_003780	Q15628	TRADD_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)	5	922	-		Ovarian(137;0.0563)	281			Interaction with KRT14 and KRT18.|Death.		B2RDS3|B3KQZ9|Q52NZ1	Missense_Mutation	SNP	ENST00000345057.4	37	c.842C>T	CCDS10829.1	.	.	.	.	.	.	.	.	.	.	G	15.27	2.783725	0.49891	.	.	ENSG00000102871	ENST00000345057	D	0.89270	-2.49	4.94	4.94	0.65067	Death (3);DEATH-like (2);	0.055448	0.64402	D	0.000001	D	0.93808	0.8020	M	0.71206	2.165	0.51012	D	0.999905	D	0.89917	1.0	D	0.79784	0.993	D	0.94358	0.7585	10	0.87932	D	0	-21.3352	16.8941	0.86095	0.0:0.0:1.0:0.0	.	281	Q15628	TRADD_HUMAN	M	281	ENSP00000341268:T281M	ENSP00000341268:T281M	T	-	2	0	TRADD	65746150	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.571000	0.67404	2.584000	0.87258	0.462000	0.41574	ACG		PASS	0.697	TRADD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268841.2			5	39	5	39	---	---	---	---
FUK	197258	broad.mit.edu	37	16	70508827	70508827	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr16:70508827G>T	ENST00000288078.6	+	18	2522	c.2290G>T	c.(2290-2292)Gtg>Ttg	p.V764L	FUK_ENST00000378912.2_Missense_Mutation_p.V796L|FUK_ENST00000571514.1_Missense_Mutation_p.V255L	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	764						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|fucokinase activity (GO:0050201)	p.V764L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				GTGGCTGGCGGTGGGGCCTCG	0.701																																						uc002eyy.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2290-2292)GTG>TTG		fucokinase							16.0	24.0	21.0					16																	70508827		2061	4174	6235	SO:0001583	missense	197258					cytoplasm	ATP binding|fucokinase activity	g.chr16:70508827G>T		CCDS10891.2	16q22.1	2008-02-05			ENSG00000157353	ENSG00000157353	2.7.1.52		29500	protein-coding gene	gene with protein product	"""L-fucose kinase"""	608675				12056818	Standard	XM_006721161		Approved	FLJ39408	uc002eyy.3	Q8N0W3	OTTHUMG00000074085	ENST00000288078.6:c.2290G>T	16.37:g.70508827G>T	ENSP00000288078:p.Val764Leu					FUK_uc010cft.2_Missense_Mutation_p.V796L|FUK_uc002eyz.2_Missense_Mutation_p.V255L	p.V764L	NM_145059	NP_659496	Q8N0W3	FUK_HUMAN			18	2348	+		Ovarian(137;0.0694)	764					Q5PSM3|Q5XKL6|Q6ZRA0|Q96MT9	Missense_Mutation	SNP	ENST00000288078.6	37	c.2290G>T	CCDS10891.2	.	.	.	.	.	.	.	.	.	.	G	6.820	0.520413	0.13005	.	.	ENSG00000157353	ENST00000288078;ENST00000378912;ENST00000538525	D;D	0.91068	-2.78;-2.78	5.49	-1.94	0.07571	Ribosomal protein S5 domain 2-type fold (1);	0.565224	0.18677	N	0.134262	T	0.78559	0.4302	L	0.37630	1.12	0.28918	N	0.892316	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.61451	-0.7060	10	0.09590	T	0.72	-7.0715	2.9861	0.05969	0.1982:0.1087:0.4917:0.2014	.	796;670;764	Q8N0W3-2;B2RDL5;Q8N0W3	.;.;FUK_HUMAN	L	764;796;78	ENSP00000288078:V764L;ENSP00000368192:V796L	ENSP00000288078:V764L	V	+	1	0	FUK	69066328	0.877000	0.30153	0.052000	0.19188	0.812000	0.45895	1.865000	0.39479	-0.114000	0.11936	0.655000	0.94253	GTG		PASS	0.701	FUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157291.2	NM_145059		9	7	9	7	---	---	---	---
CNTNAP4	85445	broad.mit.edu	37	16	76528905	76528905	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr16:76528905G>C	ENST00000476707.1	+	13	2327	c.2188G>C	c.(2188-2190)Gag>Cag	p.E730Q	CNTNAP4_ENST00000377504.4_Missense_Mutation_p.E678Q|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.E654Q|CNTNAP4_ENST00000307431.8_Missense_Mutation_p.E726Q|CNTNAP4_ENST00000469589.1_3'UTR			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	727	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)		p.E726Q(1)|p.E654Q(1)|p.E702Q(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TTGTGGATTAGAGGGAAACTG	0.408																																						uc002feu.1																			3	Substitution - Missense(3)		lung(3)	ovary(1)|pancreas(1)	2						c.(2179-2181)GAG>CAG		cell recognition protein CASPR4 isoform 1							179.0	173.0	175.0					16																	76528905		2198	4300	6498	SO:0001583	missense	85445				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr16:76528905G>C	AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.2188G>C	16.37:g.76528905G>C	ENSP00000417628:p.Glu730Gln					CNTNAP4_uc002fev.1_Missense_Mutation_p.E591Q|CNTNAP4_uc010chb.1_Missense_Mutation_p.E654Q|CNTNAP4_uc002fex.1_Missense_Mutation_p.E730Q|CNTNAP4_uc002few.2_Missense_Mutation_p.E702Q	p.E727Q	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN			16	2564	+			727			Extracellular (Potential).|Fibrinogen C-terminal.		E9PFZ6|Q86YZ7	Missense_Mutation	SNP	ENST00000476707.1	37	c.2179G>C		.	.	.	.	.	.	.	.	.	.	G	13.67	2.307817	0.40795	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	T;T;T;T	0.14144	2.53;2.53;2.53;2.53	5.18	5.18	0.71444	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (1);	0.000000	0.42053	D	0.000771	T	0.12561	0.0305	.	.	.	0.45528	D	0.998488	B;B;B;B	0.31193	0.008;0.312;0.039;0.021	B;B;B;B	0.29524	0.027;0.103;0.027;0.035	T	0.05099	-1.0906	9	0.37606	T	0.19	.	14.7965	0.69881	0.0:0.1836:0.8164:0.0	.	654;730;702;727	E9PFZ6;E9PDN6;Q96M80;Q9C0A0	.;.;.;CNTP4_HUMAN	Q	726;678;654;730	ENSP00000306893:E726Q;ENSP00000439733:E678Q;ENSP00000418741:E654Q;ENSP00000417628:E730Q	ENSP00000306893:E726Q	E	+	1	0	CNTNAP4	75086406	1.000000	0.71417	0.981000	0.43875	0.992000	0.81027	2.869000	0.48444	2.861000	0.98227	0.650000	0.86243	GAG		PASS	0.408	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401		5	251	5	251	---	---	---	---
MBTPS1	8720	broad.mit.edu	37	16	84132744	84132744	+	Missense_Mutation	SNP	G	G	A	rs377692604		TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr16:84132744G>A	ENST00000343411.3	-	3	830	c.335C>T	c.(334-336)gCg>gTg	p.A112V		NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	112					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)	p.A112V(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TAGCAGCCCCGCTTTCTGTTT	0.423																																						uc002fhi.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(334-336)GCG>GTG		membrane-bound transcription factor site-1		G	VAL/ALA	0,4400		0,0,2200	191.0	178.0	182.0		335	0.1	0.2	16		182	1,8599	1.2+/-3.3	0,1,4299	no	missense	MBTPS1	NM_003791.2	64	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	benign	112/1053	84132744	1,12999	2200	4300	6500	SO:0001583	missense	8720				cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity	g.chr16:84132744G>A	D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943			15456	protein-coding gene	gene with protein product		603355	"""membrane-bound transcription factor protease, site 1"""			9809072, 10944850	Standard	NM_003791		Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.335C>T	16.37:g.84132744G>A	ENSP00000344223:p.Ala112Val						p.A112V	NM_003791	NP_003782	Q14703	MBTP1_HUMAN			3	837	-			112					A8K6V8|Q24JQ2|Q9UF67	Missense_Mutation	SNP	ENST00000343411.3	37	c.335C>T	CCDS10941.1	.	.	.	.	.	.	.	.	.	.	G	9.397	1.077113	0.20227	0.0	1.16E-4	ENSG00000140943	ENST00000343411	T	0.31510	1.49	5.61	0.142	0.14816	.	0.490245	0.24820	N	0.035330	T	0.18045	0.0433	L	0.36672	1.1	0.09310	N	1	B	0.20887	0.049	B	0.15870	0.014	T	0.14062	-1.0486	10	0.30078	T	0.28	-8.6982	4.727	0.12946	0.4016:0.0:0.384:0.2143	.	112	Q14703	MBTP1_HUMAN	V	112	ENSP00000344223:A112V	ENSP00000344223:A112V	A	-	2	0	MBTPS1	82690245	0.131000	0.22433	0.173000	0.22940	0.633000	0.38033	1.953000	0.40352	-0.178000	0.10672	-0.133000	0.14855	GCG		PASS	0.423	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269080.2	NM_003791		24	372	24	372	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578263	7578263	+	Nonsense_Mutation	SNP	G	G	A	rs397516435		TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr17:7578263G>A	ENST00000269305.4	-	6	775	c.586C>T	c.(586-588)Cga>Tga	p.R196*	TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Nonsense_Mutation_p.R196*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R196*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R196*|TP53_ENST00000420246.2_Nonsense_Mutation_p.R196*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R196*	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	196	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|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 core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R196*(167)|p.R64*(14)|p.R103*(14)|p.0?(8)|p.R196fs*51(7)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196R(2)|p.I195fs*50(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I195fs*12(1)|p.P59_E66>Q(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CCTTCCACTCGGATAAGATGC	0.552		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		232	Substitution - Nonsense(195)|Deletion - Frameshift(11)|Whole gene deletion(8)|Deletion - In frame(5)|Complex - deletion inframe(5)|Unknown(5)|Substitution - coding silent(2)|Complex - frameshift(1)	p.R196*(125)|p.R196P(12)|p.0?(7)|p.R196R(5)|p.R196fs*51(4)|p.A189_V197delAPPQHLIRV(4)|p.R196Q(3)|p.K164_P219del(1)|p.R196L(1)|p.I195fs*50(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.R64*(1)|p.I195fs*12(1)|p.R103*(1)	large_intestine(54)|breast(29)|upper_aerodigestive_tract(22)|lung(22)|haematopoietic_and_lymphoid_tissue(17)|skin(17)|biliary_tract(11)|central_nervous_system(11)|oesophagus(11)|ovary(11)|stomach(8)|urinary_tract(7)|bone(4)|liver(3)|pancreas(3)|eye(1)|kidney(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM941329	TP53	M		c.(586-588)CGA>TGA	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							102.0	91.0	94.0					17																	7578263		2203	4300	6503	SO:0001587	stop_gained	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578263G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.586C>T	17.37:g.7578263G>A	ENSP00000269305:p.Arg196*	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Nonsense_Mutation_p.R196*|TP53_uc002gih.2_Nonsense_Mutation_p.R196*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.R64*|TP53_uc010cng.1_Nonsense_Mutation_p.R64*|TP53_uc002gii.1_Nonsense_Mutation_p.R64*|TP53_uc010cnh.1_Nonsense_Mutation_p.R196*|TP53_uc010cni.1_Nonsense_Mutation_p.R196*|TP53_uc002gij.2_Nonsense_Mutation_p.R196*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.R103*|TP53_uc002gio.2_Nonsense_Mutation_p.R64*|TP53_uc010vug.1_Nonsense_Mutation_p.R157*	p.R196*	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	780	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	196		R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.586C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	14.02	2.409843	0.42715	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.41	4.44	0.53790	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.9531	12.3046	0.54895	0.0827:0.0:0.9173:0.0	.	.	.	.	X	196;196;196;196;196;196;185;103;64;103;64	.	ENSP00000269305:R196X	R	-	1	2	TP53	7518988	1.000000	0.71417	0.997000	0.53966	0.023000	0.10783	2.166000	0.42406	1.427000	0.47276	-0.140000	0.14226	CGA		PASS	0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		55	71	55	71	---	---	---	---
NCOR1	9611	broad.mit.edu	37	17	16068475	16068475	+	Splice_Site	SNP	C	C	A			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr17:16068475C>A	ENST00000268712.3	-	5	693	c.436G>T	c.(436-438)Gat>Tat	p.D146Y	NCOR1_ENST00000395851.1_Splice_Site_p.D146Y|NCOR1_ENST00000395848.1_Splice_Site_p.D37Y	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	146	Interaction with ZBTB33 and HEXIM1.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.D146Y(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		AATGCTGGATCCTTTAGAGAA	0.393																																						uc002gpo.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5						c.(436-438)GAT>TAT		nuclear receptor co-repressor 1							89.0	83.0	85.0					17																	16068475		2203	4300	6503	SO:0001630	splice_region_variant	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:16068475C>A	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.436-1G>T	17.37:g.16068475C>A						NCOR1_uc002gpn.2_Missense_Mutation_p.D146Y|NCOR1_uc002gpp.1_Missense_Mutation_p.D37Y|NCOR1_uc002gpr.2_Missense_Mutation_p.D37Y|NCOR1_uc002gps.1_Missense_Mutation_p.D146Y|NCOR1_uc010coz.1_5'UTR|NCOR1_uc010cpb.1_Missense_Mutation_p.D146Y|NCOR1_uc010cpa.1_Missense_Mutation_p.D146Y|NCOR1_uc002gpu.2_Missense_Mutation_p.D146Y	p.D146Y	NM_006311	NP_006302	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	5	676	-			146			Interaction with ZBTB33 and HEXIM1.		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	ENST00000268712.3	37	c.436G>T	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	C	12.80	2.047773	0.36085	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000458113;ENST00000395848;ENST00000411510;ENST00000436828	T;T;T	0.53857	0.6;1.15;0.62	5.04	5.04	0.67666	.	0.256360	0.45361	D	0.000374	T	0.66416	0.2787	L	0.49778	1.585	0.80722	D	1	D;D;D;D;D;D;P	0.69078	0.984;0.996;0.983;0.996;0.997;0.985;0.873	P;P;P;P;D;P;P	0.64042	0.839;0.896;0.807;0.896;0.921;0.781;0.628	T	0.69942	-0.5008	10	0.87932	D	0	-3.4523	17.4183	0.87507	0.0:1.0:0.0:0.0	.	146;146;146;146;37;146;146	E7EU93;E7EV02;Q3B773;E7EW50;E9PGV6;O75376;O75376-2	.;.;.;.;.;NCOR1_HUMAN;.	Y	146;146;37;146;37;146;146	ENSP00000268712:D146Y;ENSP00000379192:D146Y;ENSP00000379189:D37Y	ENSP00000268712:D146Y	D	-	1	0	NCOR1	16009200	1.000000	0.71417	1.000000	0.80357	0.793000	0.44817	6.627000	0.74258	2.349000	0.79799	0.478000	0.44815	GAT		PASS	0.393	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311	Missense_Mutation	45	266	45	266	---	---	---	---
ZNF624	57547	broad.mit.edu	37	17	16526936	16526936	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr17:16526936C>A	ENST00000311331.7	-	6	1355	c.1264G>T	c.(1264-1266)Ggg>Tgg	p.G422W		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	422					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G422W(1)		breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		AAGGCTTTCCCACAATCATCA	0.388																																					NSCLC(186;1023 2134 13330 38202 39800)	uc010cpi.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(1264-1266)GGG>TGG		zinc finger protein 624							128.0	125.0	126.0					17																	16526936		2203	4300	6503	SO:0001583	missense	57547				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:16526936C>A	AB037770	CCDS11180.1	17p11.2	2013-01-08			ENSG00000197566	ENSG00000197566		"""Zinc fingers, C2H2-type"", ""-"""	29254	protein-coding gene	gene with protein product						10718198	Standard	NM_020787		Approved	KIAA1349	uc010cpi.2	Q9P2J8	OTTHUMG00000058996	ENST00000311331.7:c.1264G>T	17.37:g.16526936C>A	ENSP00000310472:p.Gly422Trp						p.G422W	NM_020787	NP_065838	Q9P2J8	ZN624_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	6	1347	-			422			C2H2-type 6.		Q3SY62|Q3SY63|Q6ZN27	Missense_Mutation	SNP	ENST00000311331.7	37	c.1264G>T	CCDS11180.1	.	.	.	.	.	.	.	.	.	.	C	14.03	2.413823	0.42817	.	.	ENSG00000197566	ENST00000311331	T	0.08008	3.14	2.79	2.79	0.32731	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.37705	0.1013	H	0.95645	3.7	0.36110	D	0.844731	D	0.89917	1.0	D	0.77557	0.99	T	0.61633	-0.7023	9	0.87932	D	0	.	11.785	0.52037	0.0:1.0:0.0:0.0	.	422	Q9P2J8	ZN624_HUMAN	W	422	ENSP00000310472:G422W	ENSP00000310472:G422W	G	-	1	0	ZNF624	16467661	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.320000	0.51991	1.877000	0.54381	0.563000	0.77884	GGG		PASS	0.388	ZNF624-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130512.3	XM_047617		63	96	63	96	---	---	---	---
NF1	4763	broad.mit.edu	37	17	29661984	29661984	+	Missense_Mutation	SNP	A	A	G			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr17:29661984A>G	ENST00000358273.4	+	40	6324	c.5941A>G	c.(5941-5943)Atg>Gtg	p.M1981V	NF1_ENST00000581113.2_3'UTR|NF1_ENST00000356175.3_Missense_Mutation_p.M1960V|NF1_ENST00000444181.2_5'Flank|NF1_ENST00000417592.2_5'Flank	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1981					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)|p.M1981V(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GCTGATAACAATGACCATCAA	0.373			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.2			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	D|Mis|N|F|S|O	neurofibromatosis type 1 gene			O		neurofibroma|glioma	neurofibroma|glioma		13	Whole gene deletion(8)|Unknown(3)|Substitution - Missense(2)		soft_tissue(7)|lung(3)|autonomic_ganglia(2)|central_nervous_system(1)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330						c.(5941-5943)ATG>GTG		neurofibromin isoform 1							118.0	104.0	109.0					17																	29661984		2203	4300	6503	SO:0001583	missense	4763	Neurofibromatosis_type_1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29661984A>G		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.5941A>G	17.37:g.29661984A>G	ENSP00000351015:p.Met1981Val	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hgh.2_Missense_Mutation_p.M1960V|NF1_uc010cso.2_Missense_Mutation_p.M169V|NF1_uc010wbt.1_5'Flank|NF1_uc010wbu.1_5'Flank	p.M1981V	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	40	6274	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	1981					O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	c.5941A>G	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	A	16.92	3.254525	0.59212	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	D;D;D	0.91407	-2.84;-2.84;-2.84	5.54	4.44	0.53790	Armadillo-type fold (2);	0.045148	0.85682	D	0.000000	T	0.81711	0.4880	N	0.11064	0.09	0.80722	D	1	B;B	0.27140	0.169;0.013	B;B	0.26310	0.068;0.024	T	0.78285	-0.2263	10	0.72032	D	0.01	.	12.6292	0.56646	0.8616:0.1384:0.0:0.0	.	1960;1981	P21359-2;P21359	.;NF1_HUMAN	V	1981;1960;1626	ENSP00000351015:M1981V;ENSP00000348498:M1960V;ENSP00000389907:M1626V	ENSP00000348498:M1960V	M	+	1	0	NF1	26686110	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.760000	0.91671	0.907000	0.36646	0.455000	0.32223	ATG		PASS	0.373	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		46	110	46	110	---	---	---	---
KRT13	3860	broad.mit.edu	37	17	39658985	39658985	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr17:39658985C>T	ENST00000246635.3	-	5	1023	c.977G>A	c.(976-978)cGc>cAc	p.R326H	KRT13_ENST00000587118.1_5'Flank|KRT13_ENST00000336861.3_Missense_Mutation_p.R326H|AC019349.5_ENST00000411759.1_RNA|KRT13_ENST00000587544.1_Missense_Mutation_p.R326H	NM_153490.2	NP_705694	P13646	K1C13_HUMAN	keratin 13	326	Coil 2.|Rod.				cellular response to retinoic acid (GO:0071300)|cytoskeleton organization (GO:0007010)|response to radiation (GO:0009314)|tongue morphogenesis (GO:0043587)	extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)	p.R326H(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				TTGGAGCGTGCGCCTGAGCTC	0.577																																						uc002hwu.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|pancreas(1)	5						c.(976-978)CGC>CAC		keratin 13 isoform a							177.0	159.0	165.0					17																	39658985		2203	4300	6503	SO:0001583	missense	3860				epidermis development	intermediate filament	structural molecule activity	g.chr17:39658985C>T		CCDS11396.1, CCDS11397.1	17q21.2	2013-06-20			ENSG00000171401	ENSG00000171401		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6415	protein-coding gene	gene with protein product	"""keratin, type I cytoskeletal 13"", ""cytokeratin 13"""	148065				16831889	Standard	NM_153490		Approved	K13, CK13, MGC3781, MGC161462	uc002hwu.1	P13646	OTTHUMG00000133434	ENST00000246635.3:c.977G>A	17.37:g.39658985C>T	ENSP00000246635:p.Arg326His					KRT13_uc002hwv.1_Missense_Mutation_p.R326H|KRT13_uc002hww.2_Missense_Mutation_p.R219H|KRT13_uc010wfr.1_Missense_Mutation_p.R219H|KRT13_uc010cxo.2_Missense_Mutation_p.R326H|KRT13_uc002hwx.1_Missense_Mutation_p.R314H	p.R326H	NM_153490	NP_705694	P13646	K1C13_HUMAN			5	1040	-		Breast(137;0.000286)	326			Rod.|Coil 2.		Q53G54|Q6AZK5|Q8N240	Missense_Mutation	SNP	ENST00000246635.3	37	c.977G>A	CCDS11396.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.827461	0.90955	.	.	ENSG00000171401	ENST00000246635;ENST00000336861;ENST00000157775	D;D	0.90504	-2.68;-2.68	4.45	4.45	0.53987	Filament (1);	0.000000	0.46758	D	0.000277	D	0.93174	0.7826	M	0.63428	1.95	0.51482	D	0.99992	D;D;D;D	0.63880	0.993;0.987;0.984;0.987	P;P;P;P	0.59171	0.853;0.828;0.736;0.828	D	0.93775	0.7078	10	0.66056	D	0.02	.	15.7991	0.78436	0.0:1.0:0.0:0.0	.	314;326;326;326	P13646-2;A1A4E9;P13646-3;P13646	.;.;.;K1C13_HUMAN	H	326;326;314	ENSP00000246635:R326H;ENSP00000336604:R326H	ENSP00000157775:R314H	R	-	2	0	KRT13	36912511	0.998000	0.40836	0.969000	0.41365	0.991000	0.79684	3.864000	0.56024	2.460000	0.83146	0.478000	0.44815	CGC		PASS	0.577	KRT13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257297.1	NM_153490		7	850	7	850	---	---	---	---
HOXB8	3218	broad.mit.edu	37	17	46690838	46690838	+	Missense_Mutation	SNP	T	T	C			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr17:46690838T>C	ENST00000239144.4	-	2	692	c.458A>G	c.(457-459)tAc>tGc	p.Y153C	HOXB7_ENST00000239165.7_5'Flank|HOXB7_ENST00000567101.2_Intron|HOXB8_ENST00000576562.1_Missense_Mutation_p.Y152C	NM_024016.3	NP_076921.1	P17481	HXB8_HUMAN	homeobox B8	153					adult locomotory behavior (GO:0008344)|anterior/posterior pattern specification (GO:0009952)|dorsal spinal cord development (GO:0021516)|embryonic skeletal system morphogenesis (GO:0048704)|grooming behavior (GO:0007625)|negative regulation of myeloid cell differentiation (GO:0045638)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Y153C(1)		large_intestine(1)|lung(8)|urinary_tract(2)	11						GTAGCGGCTGTAGGTCTGTCG	0.637																																						uc002inw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(457-459)TAC>TGC		homeobox B8							54.0	59.0	57.0					17																	46690838		2203	4300	6503	SO:0001583	missense	3218					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46690838T>C		CCDS11533.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120068	ENSG00000120068		"""Homeoboxes / ANTP class : HOXL subclass"""	5119	protein-coding gene	gene with protein product		142963	"""homeo box B8"""	HOX2, HOX2D		1973146, 1358459	Standard	XM_005257286		Approved		uc002inw.3	P17481	OTTHUMG00000159904	ENST00000239144.4:c.458A>G	17.37:g.46690838T>C	ENSP00000239144:p.Tyr153Cys					HOXB7_uc002inv.2_5'Flank	p.Y153C	NM_024016	NP_076921	P17481	HXB8_HUMAN			2	693	-			153			Homeobox.		Q9H1I2	Missense_Mutation	SNP	ENST00000239144.4	37	c.458A>G	CCDS11533.1	.	.	.	.	.	.	.	.	.	.	T	16.98	3.271788	0.59649	.	.	ENSG00000120068	ENST00000239144	D	0.96365	-3.99	2.9	2.9	0.33743	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.40640	U	0.001049	D	0.98295	0.9435	M	0.93507	3.425	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.98621	1.0667	10	0.87932	D	0	.	11.4109	0.49925	0.0:0.0:0.0:1.0	.	153	P17481	HXB8_HUMAN	C	153	ENSP00000239144:Y153C	ENSP00000239144:Y153C	Y	-	2	0	HOXB8	44045837	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.209000	0.77916	1.335000	0.45486	0.397000	0.26171	TAC		PASS	0.637	HOXB8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358092.3			60	118	60	118	---	---	---	---
GNA13	10672	broad.mit.edu	37	17	63010730	63010730	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr17:63010730C>T	ENST00000439174.2	-	4	1024	c.779G>A	c.(778-780)cGa>cAa	p.R260Q	GNA13_ENST00000541118.1_Missense_Mutation_p.R165Q	NM_006572.4	NP_006563.2	Q14344	GNA13_HUMAN	guanine nucleotide binding protein (G protein), alpha 13	260					activation of phospholipase D activity (GO:0031584)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|in utero embryonic development (GO:0001701)|patterning of blood vessels (GO:0001569)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of cell migration (GO:0030334)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)	brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	D5 dopamine receptor binding (GO:0031752)|G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 1 angiotensin receptor binding (GO:0031702)	p.R260Q(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1)	34						ATTGGTCAGTCGATCTTCCAT	0.388																																						uc002jfc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(778-780)CGA>CAA		guanine nucleotide binding protein (G protein),							111.0	103.0	106.0					17																	63010730		2203	4300	6503	SO:0001583	missense	10672				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase D activity|cellular component movement|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex|melanosome	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity|type 1 angiotensin receptor binding	g.chr17:63010730C>T	L22075	CCDS11661.1, CCDS62302.1	17q24.1	2014-09-04			ENSG00000120063	ENSG00000120063			4381	protein-coding gene	gene with protein product		604406				7791744	Standard	NM_006572		Approved	G13, MGC46138	uc002jfc.3	Q14344	OTTHUMG00000179316	ENST00000439174.2:c.779G>A	17.37:g.63010730C>T	ENSP00000400717:p.Arg260Gln					GNA13_uc010wqh.1_Missense_Mutation_p.R165Q	p.R260Q	NM_006572	NP_006563	Q14344	GNA13_HUMAN			4	988	-			260					B2R977|B7Z7R0|F5H1G8|Q8TD70	Missense_Mutation	SNP	ENST00000439174.2	37	c.779G>A	CCDS11661.1	.	.	.	.	.	.	.	.	.	.	C	34	5.401097	0.96030	.	.	ENSG00000120063	ENST00000439174;ENST00000541118;ENST00000239138	D;D	0.88664	-2.41;-2.41	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.93314	0.7869	L	0.52266	1.64	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.92603	0.6093	10	0.59425	D	0.04	.	20.4745	0.99168	0.0:1.0:0.0:0.0	.	260	Q14344	GNA13_HUMAN	Q	260;165;235	ENSP00000400717:R260Q;ENSP00000439647:R165Q	ENSP00000239138:R235Q	R	-	2	0	GNA13	60441192	1.000000	0.71417	0.992000	0.48379	0.999000	0.98932	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	CGA		PASS	0.388	GNA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445720.1	NM_006572		16	248	16	248	---	---	---	---
ABCA10	10349	broad.mit.edu	37	17	67145042	67145043	+	Missense_Mutation	DNP	GC	GC	TA			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr17:67145042_67145043GC>TA	ENST00000269081.4	-	40	5466_5467	c.4557_4558GC>TA	c.(4555-4560)gaGCag>gaTAag	p.1519_1520EQ>DK	ABCA10_ENST00000519732.1_5'UTR|ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	1519					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.E1519_Q1520>DK(1)|p.E1519D(1)|p.Q1520K(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					CCCAGCTCCTGCTCTTTACAGA	0.366																																						uc010dfa.1																			3	Substitution - Missense(2)|Complex - compound substitution(1)		lung(3)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(4558-4560)CAG>AAG|c.(4555-4557)GAG>GAT		ATP-binding cassette, sub-family A, member 10																																				SO:0001583	missense	10349				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67145042G>T|g.chr17:67145043C>A	AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"""ATP binding cassette transporters / subfamily A"""	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.4557_4558delinsTA	17.37:g.67145042_67145043delinsTA	ENSP00000269081:p.E1519_Q1520delinsDK					ABCA10_uc002jhz.2_RNA|ABCA10_uc010wqs.1_Missense_Mutation_p.Q512K|ABCA10_uc010wqt.1_RNA|ABCA10_uc002jhz.2_RNA|ABCA10_uc010wqs.1_Missense_Mutation_p.E511D|ABCA10_uc010wqt.1_RNA	p.Q1520K|p.E1519D	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN			40	5437|5436	-	Breast(10;6.95e-12)		1520|1519					C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Missense_Mutation	SNP	ENST00000269081.4	37	c.4558C>A|c.4557G>T	CCDS11684.1																																																																																				PASS	0.366	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4	NM_080282		51|50	120	50	120	---	---	---	---
RPTOR	57521	broad.mit.edu	37	17	78796099	78796099	+	Missense_Mutation	SNP	G	G	A	rs201102317		TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr17:78796099G>A	ENST00000306801.3	+	8	1351	c.989G>A	c.(988-990)cGg>cAg	p.R330Q	RPTOR_ENST00000544334.2_Missense_Mutation_p.R330Q|RPTOR_ENST00000537330.1_Missense_Mutation_p.R145Q|RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000570891.1_Missense_Mutation_p.R330Q	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	330					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.R330Q(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						GTGCTCCCCCGGGGTGAGGCG	0.647													G|||	1	0.000199681	0.0	0.0	5008	,	,		17674	0.001		0.0	False		,,,				2504	0.0					uc002jyt.1																			1	Substitution - Missense(1)		lung(1)	lung(4)|urinary_tract(1)|ovary(1)	6						c.(988-990)CGG>CAG		raptor isoform 1							110.0	112.0	111.0					17																	78796099		2203	4300	6503	SO:0001583	missense	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.chr17:78796099G>A		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.989G>A	17.37:g.78796099G>A	ENSP00000307272:p.Arg330Gln					RPTOR_uc002jys.2_Missense_Mutation_p.R330Q|RPTOR_uc010wuf.1_Missense_Mutation_p.R145Q|RPTOR_uc010wug.1_Missense_Mutation_p.R330Q	p.R330Q	NM_020761	NP_065812	Q8N122	RPTOR_HUMAN			8	1794	+			330					B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Missense_Mutation	SNP	ENST00000306801.3	37	c.989G>A	CCDS11773.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	28.4	4.912905	0.92178	.	.	ENSG00000141564	ENST00000537330;ENST00000306801;ENST00000544334	T;T	0.50277	0.75;0.76	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.67720	0.2923	M	0.73319	2.225	0.80722	D	1	D;D;P	0.69078	0.997;0.985;0.573	D;B;B	0.69479	0.964;0.421;0.044	T	0.70288	-0.4913	10	0.51188	T	0.08	.	18.0485	0.89340	0.0:0.0:1.0:0.0	.	330;145;330	F5H7J5;F5GXV9;Q8N122	.;.;RPTOR_HUMAN	Q	145;330;330	ENSP00000307272:R330Q;ENSP00000442479:R330Q	ENSP00000307272:R330Q	R	+	2	0	RPTOR	76410694	1.000000	0.71417	1.000000	0.80357	0.414000	0.31173	9.230000	0.95299	2.263000	0.75096	0.591000	0.81541	CGG		PASS	0.647	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438125.1	NM_020761		178	312	178	312	---	---	---	---
TBCD	6904	broad.mit.edu	37	17	80828207	80828207	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr17:80828207C>T	ENST00000355528.4	+	14	1556	c.1426C>T	c.(1426-1428)Cgt>Tgt	p.R476C	TBCD_ENST00000539345.2_Missense_Mutation_p.R476C|TBCD_ENST00000397466.2_Missense_Mutation_p.R90C	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	476					'de novo' posttranslational protein folding (GO:0051084)|adherens junction assembly (GO:0034333)|cellular protein metabolic process (GO:0044267)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of GTPase activity (GO:0043547)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|tight junction (GO:0005923)	beta-tubulin binding (GO:0048487)|chaperone binding (GO:0051087)|GTPase activator activity (GO:0005096)	p.R476C(2)				Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			GGCCTTCGCGCGTGCCTATGA	0.652																																						uc002kfz.2																			2	Substitution - Missense(2)		lung(2)		0						c.(1426-1428)CGT>TGT		beta-tubulin cofactor D							35.0	41.0	39.0					17																	80828207		2158	4255	6413	SO:0001583	missense	6904				'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity	g.chr17:80828207C>T	BC003094	CCDS45818.1	17q25.3	2006-11-21	2006-11-21			ENSG00000141556			11581	protein-coding gene	gene with protein product		604649	"""tubulin-specific chaperone d"""				Standard	NM_005993		Approved		uc002kfz.3	Q9BTW9		ENST00000355528.4:c.1426C>T	17.37:g.80828207C>T	ENSP00000347719:p.Arg476Cys					TBCD_uc002kfx.1_Missense_Mutation_p.R459C|TBCD_uc002kfy.1_Missense_Mutation_p.R476C	p.R476C	NM_005993	NP_005984	Q9BTW9	TBCD_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)		14	1556	+	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	476					O95458|Q7L8K1|Q8IXP6|Q8NAX0|Q8WYH4|Q96E74|Q9UF82|Q9UG46|Q9Y2J3	Missense_Mutation	SNP	ENST00000355528.4	37	c.1426C>T	CCDS45818.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.374172	0.82573	.	.	ENSG00000141556	ENST00000355528;ENST00000334614;ENST00000397466;ENST00000536182	T;T	0.51817	0.69;0.69	5.53	5.53	0.82687	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.79563	0.4467	H	0.96970	3.915	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	0.86301	0.1680	9	.	.	.	.	16.1871	0.81960	0.0:1.0:0.0:0.0	.	476;476;476	Q9BTW9;Q9BTW9-4;F5H8C7	TBCD_HUMAN;.;.	C	476;227;90;476	ENSP00000347719:R476C;ENSP00000380608:R90C	.	R	+	1	0	TBCD	78421496	0.981000	0.34729	0.829000	0.32907	0.912000	0.54170	2.571000	0.45990	2.591000	0.87537	0.655000	0.94253	CGT		PASS	0.652	TBCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439415.1	NM_005993		39	73	39	73	---	---	---	---
TXNL1	9352	broad.mit.edu	37	18	54291628	54291628	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr18:54291628C>G	ENST00000217515.6	-	3	464	c.260G>C	c.(259-261)aGa>aCa	p.R87T	TXNL1_ENST00000540155.1_5'UTR|TXNL1_ENST00000590954.1_Missense_Mutation_p.R87T	NM_004786.2	NP_004777.1	O43396	TXNL1_HUMAN	thioredoxin-like 1	87	Thioredoxin.				cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	disulfide oxidoreductase activity (GO:0015036)|protein disulfide oxidoreductase activity (GO:0015035)	p.R87T(1)		endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4				READ - Rectum adenocarcinoma(59;0.193)|Colorectal(16;0.211)		TTGATCAATTCTCACTTTGTT	0.378																																						uc002lgg.2																			1	Substitution - Missense(1)		lung(1)		0						c.(259-261)AGA>ACA		thioredoxin-like 1							186.0	180.0	182.0					18																	54291628		2203	4300	6503	SO:0001583	missense	9352				cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport	cytoplasm	electron carrier activity|protein disulfide oxidoreductase activity	g.chr18:54291628C>G	AF003938	CCDS11961.1	18q21.31	2011-01-17	2004-05-06	2004-05-07	ENSG00000091164	ENSG00000091164			12436	protein-coding gene	gene with protein product	"""thioredoxin-like, 32kD"""	603049	"""thioredoxin-like, 32kDa"""	TXNL		9473519, 9668102	Standard	NM_004786		Approved	Txl, TRP32	uc002lgg.3	O43396	OTTHUMG00000132722	ENST00000217515.6:c.260G>C	18.37:g.54291628C>G	ENSP00000217515:p.Arg87Thr					TXNL1_uc010xdz.1_RNA|TXNL1_uc002lgh.2_RNA|TXNL1_uc002lgi.2_Missense_Mutation_p.R87T|TXNL1_uc002lgj.1_Missense_Mutation_p.R87T	p.R87T	NM_004786	NP_004777	O43396	TXNL1_HUMAN		READ - Rectum adenocarcinoma(59;0.193)|Colorectal(16;0.211)	3	509	-			87			Thioredoxin.			Missense_Mutation	SNP	ENST00000217515.6	37	c.260G>C	CCDS11961.1	.	.	.	.	.	.	.	.	.	.	C	17.56	3.421097	0.62622	.	.	ENSG00000091164	ENST00000217515	T	0.21361	2.01	6.16	5.3	0.74995	Thioredoxin domain (1);Thioredoxin-like fold (2);	0.092812	0.64402	D	0.000001	T	0.18551	0.0445	L	0.39085	1.19	0.80722	D	1	B;B	0.20261	0.017;0.043	B;B	0.23852	0.042;0.049	T	0.03139	-1.1068	10	0.46703	T	0.11	.	11.1542	0.48478	0.0:0.8596:0.0:0.1404	.	87;87	B2R960;O43396	.;TXNL1_HUMAN	T	87	ENSP00000217515:R87T	ENSP00000217515:R87T	R	-	2	0	TXNL1	52442626	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.789000	0.55454	1.629000	0.50426	0.650000	0.86243	AGA		PASS	0.378	TXNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256064.2			4	626	4	626	---	---	---	---
TMIGD2	126259	broad.mit.edu	37	19	4294666	4294666	+	Missense_Mutation	SNP	C	C	A	rs143069562	byFrequency	TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr19:4294666C>A	ENST00000301272.2	-	4	505	c.460G>T	c.(460-462)Gtg>Ttg	p.V154L	TMIGD2_ENST00000600114.1_Missense_Mutation_p.V34L|TMIGD2_ENST00000595645.1_Missense_Mutation_p.V154L|TMIGD2_ENST00000600349.1_Intron	NM_001169126.1|NM_144615.2	NP_001162597.1|NP_653216.2	Q96BF3	TMIG2_HUMAN	transmembrane and immunoglobulin domain containing 2	154					positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytokine production (GO:0001819)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)	p.V154L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2)	19				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCAGCAGCACGAAGAGGAAT	0.642																																						uc002lzx.1																			1	Substitution - Missense(1)		lung(1)		0						c.(460-462)GTG>TTG		transmembrane and immunoglobulin domain							115.0	132.0	126.0					19																	4294666		2203	4300	6503	SO:0001583	missense	126259					integral to membrane		g.chr19:4294666C>A	BC015655	CCDS12126.1, CCDS59334.1	19p13.3	2014-02-12	2006-07-05					"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28324	protein-coding gene	gene with protein product		614715					Standard	NM_144615		Approved	MGC23244	uc002lzx.2	Q96BF3		ENST00000301272.2:c.460G>T	19.37:g.4294666C>A	ENSP00000301272:p.Val154Leu					TMIGD2_uc010dtv.1_Missense_Mutation_p.V154L	p.V154L	NM_144615	NP_653216	Q96BF3	TMIG2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)	4	506	-			154			Helical; (Potential).		Q6UW59	Missense_Mutation	SNP	ENST00000301272.2	37	c.460G>T	CCDS12126.1	.	.	.	.	.	.	.	.	.	.	C	7.032	0.560835	0.13498	.	.	ENSG00000167664	ENST00000301272	T	0.30981	1.51	3.05	-2.26	0.06867	.	.	.	.	.	T	0.14700	0.0355	N	0.14661	0.345	0.09310	N	1	B;B	0.15473	0.013;0.007	B;B	0.13407	0.009;0.004	T	0.24190	-1.0167	9	0.49607	T	0.09	.	4.1188	0.10095	0.5442:0.3253:0.0:0.1305	.	154;154	Q96BF3-2;Q96BF3	.;TMIG2_HUMAN	L	154	ENSP00000301272:V154L	ENSP00000301272:V154L	V	-	1	0	TMIGD2	4245666	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-2.412000	0.01039	-0.152000	0.11156	-0.334000	0.08254	GTG		PASS	0.642	TMIGD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458088.1	NM_144615		26	618	26	618	---	---	---	---
FSD1	79187	broad.mit.edu	37	19	4317224	4317224	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr19:4317224G>A	ENST00000221856.6	+	8	893	c.746G>A	c.(745-747)tGt>tAt	p.C249Y	FSD1_ENST00000597590.1_Missense_Mutation_p.C249Y|FSD1_ENST00000598010.1_3'UTR	NM_024333.2	NP_077309.1	Q9BTV5	FSD1_HUMAN	fibronectin type III and SPRY domain containing 1	249	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)		p.C249Y(1)		breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGAAGGCCTGTAACAAGGCA	0.502																																						uc002lzy.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(745-747)TGT>TAT		fibronectin type III and SPRY domain containing							160.0	140.0	147.0					19																	4317224		2203	4300	6503	SO:0001583	missense	79187				cell division|mitosis	cleavage furrow|microtubule|microtubule organizing center|nucleus		g.chr19:4317224G>A	AF316829	CCDS12127.1	19p13.3	2013-02-11	2005-03-01			ENSG00000105255		"""Fibronectin type III domain containing"""	13745	protein-coding gene	gene with protein product		609828	"""fibronectin type 3 and SPRY domain containing 1"""			11267680	Standard	NM_024333		Approved	MGC3213, MIR1	uc002lzy.2	Q9BTV5		ENST00000221856.6:c.746G>A	19.37:g.4317224G>A	ENSP00000221856:p.Cys249Tyr					FSD1_uc002lzz.2_Missense_Mutation_p.C249Y|FSD1_uc002maa.2_Missense_Mutation_p.C62Y	p.C249Y	NM_024333	NP_077309	Q9BTV5	FSD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)	8	899	+			249			Fibronectin type-III.		B2RDT0|Q9BXN0|Q9HAG4	Missense_Mutation	SNP	ENST00000221856.6	37	c.746G>A	CCDS12127.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.236426	0.79800	.	.	ENSG00000105255	ENST00000221856	T	0.53423	0.62	5.04	5.04	0.67666	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.55909	0.1950	L	0.41236	1.265	0.80722	D	1	D	0.63880	0.993	D	0.75020	0.985	T	0.46624	-0.9178	10	0.08599	T	0.76	.	15.8561	0.78979	0.0:0.0:1.0:0.0	.	249	Q9BTV5	FSD1_HUMAN	Y	249	ENSP00000221856:C249Y	ENSP00000221856:C249Y	C	+	2	0	FSD1	4268224	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	8.946000	0.92992	2.346000	0.79739	0.563000	0.77884	TGT		PASS	0.502	FSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458091.1	NM_024333		6	367	6	367	---	---	---	---
DPP9	91039	broad.mit.edu	37	19	4694679	4694679	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr19:4694679C>A	ENST00000598800.1	-	14	1928	c.1423G>T	c.(1423-1425)Ggg>Tgg	p.G475W	DPP9_ENST00000597849.1_Missense_Mutation_p.G504W|DPP9_ENST00000262960.9_Missense_Mutation_p.G504W|DPP9_ENST00000594671.1_Missense_Mutation_p.G475W			Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9	475						cytoplasm (GO:0005737)|membrane (GO:0016020)	aminopeptidase activity (GO:0004177)|identical protein binding (GO:0042802)|serine-type peptidase activity (GO:0008236)	p.G583W(1)		cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		TCACCTTCCCCGGGGCTGAAG	0.552																																						uc002mba.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1510-1512)GGG>TGG		dipeptidylpeptidase 9							26.0	29.0	28.0					19																	4694679		2027	4171	6198	SO:0001583	missense	91039				proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity	g.chr19:4694679C>A	AF452102	CCDS45928.1	19p13.3	2014-06-11	2006-01-12		ENSG00000142002	ENSG00000142002			18648	protein-coding gene	gene with protein product		608258	"""dipeptidylpeptidase 9"""				Standard	NM_139159		Approved		uc002mba.3	Q86TI2	OTTHUMG00000182040	ENST00000598800.1:c.1423G>T	19.37:g.4694679C>A	ENSP00000469603:p.Gly475Trp					DPP9_uc002mbb.2_Missense_Mutation_p.G504W|DPP9_uc002mbc.2_3'UTR	p.G504W	NM_139159	NP_631898	Q86TI2	DPP9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)	13	1768	-		Hepatocellular(1079;0.137)	475					O75273|O75868|Q1ZZB8|Q6AI37|Q6UAL0|Q6ZMT2|Q6ZNJ5|Q8N2J7|Q8N3F5|Q8WXD8|Q96NT8|Q9BVR3	Missense_Mutation	SNP	ENST00000598800.1	37	c.1510G>T		.	.	.	.	.	.	.	.	.	.	C	11.72	1.723574	0.30593	.	.	ENSG00000142002	ENST00000357909;ENST00000381797;ENST00000262960	T	0.34072	1.38	3.76	-1.36	0.09085	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	1.401490	0.04391	N	0.362400	T	0.45196	0.1330	L	0.43152	1.355	0.09310	N	1	D;D	0.71674	0.986;0.998	P;D	0.65573	0.906;0.936	T	0.29912	-0.9996	10	0.72032	D	0.01	-8.9261	2.0833	0.03640	0.1261:0.3911:0.1243:0.3585	.	475;504	Q86TI2;Q1ZZB8	DPP9_HUMAN;.	W	583;445;504	ENSP00000262960:G504W	ENSP00000262960:G504W	G	-	1	0	DPP9	4645679	0.000000	0.05858	0.210000	0.23637	0.595000	0.36748	-0.178000	0.09782	-0.704000	0.05042	-1.134000	0.01955	GGG		PASS	0.552	DPP9-026	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000459343.2			11	37	11	37	---	---	---	---
FEM1A	55527	broad.mit.edu	37	19	4792611	4792611	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr19:4792611G>T	ENST00000269856.3	+	1	884	c.745G>T	c.(745-747)Gct>Tct	p.A249S	AC005523.3_ENST00000598782.1_lincRNA|AC005523.2_ENST00000596170.1_RNA|AC005523.2_ENST00000601192.1_RNA	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a (C. elegans)	249					negative regulation of inflammatory response (GO:0050728)|regulation of ubiquitin-protein transferase activity (GO:0051438)	cytoplasm (GO:0005737)	EP4 subtype prostaglandin E2 receptor binding (GO:0031867)|ubiquitin-protein transferase activity (GO:0004842)	p.A249S(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		AGGGGGAGAGGCTCAGCCTGG	0.687																																						uc002mbf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(745-747)GCT>TCT		fem-1 homolog a							25.0	30.0	28.0					19																	4792611		2201	4293	6494	SO:0001583	missense	55527				regulation of ubiquitin-protein ligase activity	cytoplasm	binding|ubiquitin-protein ligase activity	g.chr19:4792611G>T	BC004988	CCDS12135.1	19p13.3	2013-01-10	2006-11-08		ENSG00000141965	ENSG00000141965		"""Ankyrin repeat domain containing"""	16934	protein-coding gene	gene with protein product		613538				11441184	Standard	NM_018708		Approved		uc002mbf.3	Q9BSK4		ENST00000269856.3:c.745G>T	19.37:g.4792611G>T	ENSP00000269856:p.Ala249Ser					uc002mbg.1_RNA	p.A249S	NM_018708	NP_061178	Q9BSK4	FEM1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)	1	884	+		Hepatocellular(1079;0.137)	249					B2RDI3|Q711P8|Q9NPN7|Q9NPW8	Missense_Mutation	SNP	ENST00000269856.3	37	c.745G>T	CCDS12135.1	.	.	.	.	.	.	.	.	.	.	G	0.456	-0.891432	0.02491	.	.	ENSG00000141965	ENST00000269856	T	0.66995	-0.24	2.48	1.42	0.22433	.	13.163000	0.01594	U	0.021727	T	0.43322	0.1242	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.37337	-0.9710	10	0.07644	T	0.81	-2.5004	5.3775	0.16174	0.1192:0.2061:0.6747:0.0	.	249	Q9BSK4	FEM1A_HUMAN	S	249	ENSP00000269856:A249S	ENSP00000269856:A249S	A	+	1	0	FEM1A	4743611	0.199000	0.23386	0.005000	0.12908	0.212000	0.24457	0.592000	0.23984	0.260000	0.21731	0.305000	0.20034	GCT		PASS	0.687	FEM1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459000.1			47	103	47	103	---	---	---	---
FUT6	2528	broad.mit.edu	37	19	5831575	5831575	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr19:5831575G>T	ENST00000318336.4	-	3	2198	c.1004C>A	c.(1003-1005)gCt>gAt	p.A335D	FUT6_ENST00000592563.1_Missense_Mutation_p.A335D|FUT6_ENST00000527106.1_Missense_Mutation_p.A335D|FUT6_ENST00000286955.5_Missense_Mutation_p.A335D|FUT6_ENST00000524754.1_Missense_Mutation_p.A335D	NM_000150.2	NP_000141.1	P51993	FUT6_HUMAN	fucosyltransferase 6 (alpha (1,3) fucosyltransferase)	335					fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)	p.A335D(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	6						CTTGCAGAAAGCGAGTGCCCA	0.647																																						uc002mdf.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1003-1005)GCT>GAT		fucosyltransferase 6							67.0	75.0	73.0					19																	5831575		2203	4300	6503	SO:0001583	missense	2528				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity	g.chr19:5831575G>T		CCDS12152.1	19p13.3	2013-02-26			ENSG00000156413	ENSG00000156413	2.4.1.65	"""Fucosyltransferases"""	4017	protein-coding gene	gene with protein product	"""alpha-(1,3)-fucosyltransferase"", ""galactoside 3-L-fucosyltransferase"""	136836				1520296, 7782074	Standard	NM_001040701		Approved	FT1A, FCT3A, FucT-VI, FLJ40754	uc002mdh.1	P51993	OTTHUMG00000167335	ENST00000318336.4:c.1004C>A	19.37:g.5831575G>T	ENSP00000313398:p.Ala335Asp					FUT6_uc002mdg.1_Missense_Mutation_p.A335D|FUT6_uc002mdh.1_Missense_Mutation_p.A335D|FUT6_uc010dul.1_Missense_Mutation_p.A335D	p.A335D	NM_001040701	NP_001035791	P51993	FUT6_HUMAN			4	1530	-			335			Lumenal (Potential).		A6NEX0|D6W637|Q9UND8	Missense_Mutation	SNP	ENST00000318336.4	37	c.1004C>A	CCDS12152.1	.	.	.	.	.	.	.	.	.	.	G	6.240	0.412460	0.11812	.	.	ENSG00000156413	ENST00000524754;ENST00000527106;ENST00000318336;ENST00000286955;ENST00000341530	T;T;T;T	0.25912	1.77;1.77;1.77;1.77	3.32	-6.64	0.01801	.	8.402900	0.00520	N	0.000186	T	0.11750	0.0286	N	0.10874	0.06	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.16012	-1.0417	10	0.23302	T	0.38	.	6.1115	0.20104	0.1278:0.0:0.3844:0.4878	.	335;335	C9J8A2;P51993	.;FUT6_HUMAN	D	335	ENSP00000431708:A335D;ENSP00000432954:A335D;ENSP00000313398:A335D;ENSP00000286955:A335D	ENSP00000286955:A335D	A	-	2	0	FUT6	5782575	0.000000	0.05858	0.001000	0.08648	0.026000	0.11368	0.076000	0.14712	-1.155000	0.02822	-2.170000	0.00323	GCT		PASS	0.647	FUT6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394218.2	NM_000150		56	206	56	206	---	---	---	---
FUT3	2525	broad.mit.edu	37	19	5843815	5843815	+	Missense_Mutation	SNP	G	G	C	rs561521392		TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr19:5843815G>C	ENST00000303225.6	-	3	1670	c.1036C>G	c.(1036-1038)Cag>Gag	p.Q346E	FUT3_ENST00000458379.2_Missense_Mutation_p.Q346E|FUT3_ENST00000593144.1_5'Flank|FUT3_ENST00000589918.1_Missense_Mutation_p.Q346E|FUT3_ENST00000589620.1_Missense_Mutation_p.Q346E	NM_000149.3	NP_000140	P21217	FUT3_HUMAN	fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)	346					cell-cell recognition (GO:0009988)|fucosylation (GO:0036065)|macromolecule glycosylation (GO:0043413)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)	p.Q346E(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						CTGGATTCCTGCTGCAGTTTC	0.647																																					Esophageal Squamous(82;745 1728 24593 44831)	uc002mdk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1036-1038)CAG>GAG		fucosyltransferase 3							61.0	65.0	64.0					19																	5843815		2203	4300	6503	SO:0001583	missense	2525				protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity	g.chr19:5843815G>C		CCDS12153.1	19p13.3	2014-07-19	2006-01-12		ENSG00000171124	ENSG00000171124	2.4.1.65	"""CD molecules"", ""Blood group antigens"", ""Fucosyltransferases"""	4014	protein-coding gene	gene with protein product		111100	"""fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group included)"""	LE		1977660, 1740457	Standard	NM_000149		Approved	CD174	uc002mdk.2	P21217	OTTHUMG00000180614	ENST00000303225.6:c.1036C>G	19.37:g.5843815G>C	ENSP00000305603:p.Gln346Glu					FUT3_uc002mdm.2_Missense_Mutation_p.Q346E|FUT3_uc002mdj.2_Missense_Mutation_p.Q346E|FUT3_uc002mdl.2_Missense_Mutation_p.Q346E	p.Q346E	NM_001097641	NP_001091110	P21217	FUT3_HUMAN			2	1133	-			346			Lumenal (Potential).		B5U7U9|B5U7V0|Q32NE7|Q99448|Q99449	Missense_Mutation	SNP	ENST00000303225.6	37	c.1036C>G	CCDS12153.1	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.665242	0.00765	.	.	ENSG00000171124	ENST00000303225;ENST00000458379	T;T	0.23552	1.9;1.9	2.29	-4.57	0.03421	.	1.210690	0.06051	N	0.656513	T	0.11665	0.0284	N	0.16790	0.44	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.0;0.001;0.002;0.001	T	0.39522	-0.9610	10	0.02654	T	1	.	8.2267	0.31572	0.1232:0.542:0.3348:0.0	.	346;346;346;346	B3W6H0;A8K737;B3GVC1;P21217	.;.;.;FUT3_HUMAN	E	346	ENSP00000305603:Q346E;ENSP00000416443:Q346E	ENSP00000305603:Q346E	Q	-	1	0	FUT3	5794815	0.000000	0.05858	0.000000	0.03702	0.528000	0.34623	-1.646000	0.01998	-1.723000	0.01375	-1.188000	0.01700	CAG		PASS	0.647	FUT3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452204.1	NM_000149		16	246	16	246	---	---	---	---
INSR	3643	broad.mit.edu	37	19	7168106	7168106	+	Splice_Site	SNP	C	C	A			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr19:7168106C>A	ENST00000302850.5	-	7	1626		c.e7-1		INSR_ENST00000341500.5_Splice_Site	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor						activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)	p.?(2)		breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""""""Insulin(DB00071)|""""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	TCATTTTCACCTGGAAAAGTT	0.463																																						uc002mgd.1																			2	Unknown(2)		lung(2)	ovary(4)|lung(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(1)	12						c.e7-1		insulin receptor isoform Long precursor	Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						36.0	39.0	38.0					19																	7168106		2203	4300	6503	SO:0001630	splice_region_variant	3643				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding	g.chr19:7168106C>A	M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"""CD molecules"", ""Fibronectin type III domain containing"""	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.1484-1G>T	19.37:g.7168106C>A						INSR_uc002mge.1_Splice_Site_p.C495_splice|INSR_uc002mgf.2_Splice_Site_p.C495_splice	p.C495_splice	NM_000208	NP_000199	P06213	INSR_HUMAN			7	1593	-								Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Splice_Site	SNP	ENST00000302850.5	37	c.1484_splice	CCDS12176.1	.	.	.	.	.	.	.	.	.	.	C	17.07	3.296416	0.60086	.	.	ENSG00000171105	ENST00000302850;ENST00000341500	.	.	.	4.62	4.62	0.57501	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0241	0.71653	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	INSR	7119106	1.000000	0.71417	0.999000	0.59377	0.630000	0.37929	7.303000	0.78871	2.402000	0.81655	0.462000	0.41574	.		PASS	0.463	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458544.1		Intron	22	68	22	68	---	---	---	---
RFX1	5989	broad.mit.edu	37	19	14104451	14104451	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr19:14104451C>T	ENST00000254325.4	-	2	439	c.205G>A	c.(205-207)Ggt>Agt	p.G69S		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	69					immune response (GO:0006955)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)	p.G69S(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			TTCTGGCCACCCGGTggctgt	0.701																																						uc002mxv.2																			1	Substitution - Missense(1)		lung(1)	lung(1)|pancreas(1)	2						c.(205-207)GGT>AGT		regulatory factor X1							26.0	21.0	23.0					19																	14104451		2200	4299	6499	SO:0001583	missense	5989				immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr19:14104451C>T		CCDS12301.1	19p13.1	2008-07-17				ENSG00000132005			9982	protein-coding gene	gene with protein product	"""trans-acting regulatory factor 1"", ""enhancer factor C"", ""MHC class II regulatory factor RFX"""	600006				1505960, 8289803	Standard	NM_002918		Approved	EF-C	uc002mxv.3	P22670		ENST00000254325.4:c.205G>A	19.37:g.14104451C>T	ENSP00000254325:p.Gly69Ser					RFX1_uc010dzi.2_Missense_Mutation_p.G69S	p.G69S	NM_002918	NP_002909	P22670	RFX1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)		2	477	-			69						Missense_Mutation	SNP	ENST00000254325.4	37	c.205G>A	CCDS12301.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.422165	0.83559	.	.	ENSG00000132005	ENST00000254325	T	0.57595	0.39	5.17	5.17	0.71159	.	0.152833	0.41500	D	0.000861	T	0.37705	0.1013	N	0.24115	0.695	0.27045	N	0.963922	P	0.39424	0.673	B	0.35813	0.211	T	0.31420	-0.9944	10	0.30854	T	0.27	-29.5669	14.5299	0.67917	0.0:1.0:0.0:0.0	.	69	P22670	RFX1_HUMAN	S	69	ENSP00000254325:G69S	ENSP00000254325:G69S	G	-	1	0	RFX1	13965451	0.510000	0.26171	0.412000	0.26496	0.965000	0.64279	3.419000	0.52728	2.578000	0.87016	0.650000	0.86243	GGT		PASS	0.701	RFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458510.1	NM_002918		35	49	35	49	---	---	---	---
UNC13A	23025	broad.mit.edu	37	19	17758177	17758177	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr19:17758177C>A	ENST00000519716.2	-	17	1940	c.1941G>T	c.(1939-1941)gaG>gaT	p.E647D	UNC13A_ENST00000551649.1_Missense_Mutation_p.E647D|UNC13A_ENST00000550896.1_Missense_Mutation_p.E645D|UNC13A_ENST00000252773.7_Missense_Mutation_p.E647D|UNC13A_ENST00000428389.2_Missense_Mutation_p.E735D|UNC13A_ENST00000552293.1_Missense_Mutation_p.E647D	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	647					beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)	p.E647D(1)|p.E735D(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						CCGCGAAGATCTCCTGGATGA	0.602																																						uc002nhd.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(2203-2205)GAG>GAT		unc-13 homolog A							68.0	73.0	72.0					19																	17758177		2150	4272	6422	SO:0001583	missense	23025				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr19:17758177C>A	AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.1941G>T	19.37:g.17758177C>A	ENSP00000429562:p.Glu647Asp						p.E735D	NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN			17	2205	-			647					E5RHY9	Missense_Mutation	SNP	ENST00000519716.2	37	c.2205G>T	CCDS46013.2	.	.	.	.	.	.	.	.	.	.	C	6.617	0.482295	0.12581	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	T;T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;-0.05;-0.05	3.76	3.76	0.43208	.	0.132009	0.49305	U	0.000149	T	0.42966	0.1226	L	0.31664	0.95	0.29039	N	0.88522	B	0.09022	0.002	B	0.08055	0.003	T	0.21348	-1.0248	10	0.12766	T	0.61	-26.0515	7.5586	0.27839	0.0:0.8771:0.0:0.1229	.	647	Q9UPW8	UN13A_HUMAN	D	647;735;647;647;647;645	ENSP00000429562:E647D;ENSP00000400409:E735D;ENSP00000252773:E647D;ENSP00000447236:E647D;ENSP00000447572:E647D;ENSP00000446831:E645D	ENSP00000252773:E647D	E	-	3	2	UNC13A	17619177	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	1.075000	0.30716	1.812000	0.52913	0.313000	0.20887	GAG		PASS	0.602	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604		37	67	37	67	---	---	---	---
ARRDC2	27106	broad.mit.edu	37	19	18121409	18121409	+	Silent	SNP	C	C	T	rs201004110		TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr19:18121409C>T	ENST00000222250.4	+	7	1184	c.1041C>T	c.(1039-1041)gcC>gcT	p.A347A	ARRDC2_ENST00000379656.3_Silent_p.A342A	NM_015683.1	NP_056498.1	Q8TBH0	ARRD2_HUMAN	arrestin domain containing 2	347					signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)		p.A342A(1)|p.A347A(1)		endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)	12						AGGTGGTAGCCGACACTGAGG	0.642																																						uc002nhv.2																			2	Substitution - coding silent(2)		lung(2)	pancreas(1)	1						c.(1039-1041)GCC>GCT		arrestin domain containing 2 isoform 1		C	,	0,4406		0,0,2203	65.0	68.0	67.0		1026,1041	-7.5	0.0	19		67	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ARRDC2	NM_001025604.1,NM_015683.1	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	342/403,347/408	18121409	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	27106							g.chr19:18121409C>T		CCDS12370.1, CCDS32956.1	19p13.12	2008-02-05				ENSG00000105643			25225	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015683		Approved	CLONE24945, PP2703	uc002nhv.3	Q8TBH0		ENST00000222250.4:c.1041C>T	19.37:g.18121409C>T						ARRDC2_uc002nhu.2_Silent_p.A342A	p.A347A	NM_015683	NP_056498	Q8TBH0	ARRD2_HUMAN			7	1184	+			347					B2RBG9|O95895|Q6ZRV9|Q8WYG6	Silent	SNP	ENST00000222250.4	37	c.1041C>T	CCDS12370.1																																																																																				PASS	0.642	ARRDC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466845.1	NM_015683		6	225	6	225	---	---	---	---
PIK3R2	5296	broad.mit.edu	37	19	18278092	18278092	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr19:18278092G>T	ENST00000593731.1	+	13	2272	c.1712G>T	c.(1711-1713)cGc>cTc	p.R571L	PIK3R2_ENST00000222254.8_Missense_Mutation_p.R571L			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)	571					blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	phosphatidylinositol 3-kinase regulator activity (GO:0035014)|receptor tyrosine kinase binding (GO:0030971)	p.R571L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24					Isoprenaline(DB01064)	ATGCAGCTGCGCAAGATCCGA	0.617																																						uc002nia.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)	6						c.(1711-1713)CGC>CTC		phosphoinositide-3-kinase, regulatory subunit 2							74.0	79.0	77.0					19																	18278092		2203	4300	6503	SO:0001583	missense	5296				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding	g.chr19:18278092G>T		CCDS12371.1	19p13.11	2013-03-28	2008-02-04		ENSG00000105647	ENSG00000105647		"""SH2 domain containing"""	8980	protein-coding gene	gene with protein product		603157				1314371	Standard	NM_005027		Approved	P85B, p85	uc002nia.2	O00459	OTTHUMG00000183383	ENST00000593731.1:c.1712G>T	19.37:g.18278092G>T	ENSP00000471914:p.Arg571Leu					PIK3R2_uc002nib.1_RNA|PIK3R2_uc010ebi.1_RNA	p.R571L	NM_005027	NP_005018	O00459	P85B_HUMAN			13	2224	+			571					Q5EAT5|Q9UPH9	Missense_Mutation	SNP	ENST00000593731.1	37	c.1712G>T	CCDS12371.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.422477	0.83559	.	.	ENSG00000105647	ENST00000222254	T	0.34072	1.38	4.24	4.24	0.50183	.	0.000000	0.85682	D	0.000000	T	0.62672	0.2447	M	0.83852	2.665	0.80722	D	1	D	0.76494	0.999	D	0.70227	0.968	T	0.70073	-0.4972	10	0.66056	D	0.02	-28.5259	16.4813	0.84158	0.0:0.0:1.0:0.0	.	571	O00459	P85B_HUMAN	L	571	ENSP00000222254:R571L	ENSP00000222254:R571L	R	+	2	0	PIK3R2	18139092	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.667000	0.98616	2.288000	0.76882	0.561000	0.74099	CGC		PASS	0.617	PIK3R2-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000466386.2	NM_005027		44	115	44	115	---	---	---	---
GMIP	51291	broad.mit.edu	37	19	19749075	19749075	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr19:19749075G>A	ENST00000203556.4	-	9	819	c.682C>T	c.(682-684)Cgg>Tgg	p.R228W	GMIP_ENST00000445806.2_Missense_Mutation_p.R228W|GMIP_ENST00000586269.1_5'Flank|GMIP_ENST00000587238.1_Missense_Mutation_p.R228W	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	228					intracellular signal transduction (GO:0035556)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|Rho GTPase activator activity (GO:0005100)	p.R228W(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						GAGCGTGCCCGCAGGTCCTCG	0.716																																						uc002nnd.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(682-684)CGG>TGG		GEM interacting protein							27.0	26.0	26.0					19																	19749075		2202	4299	6501	SO:0001583	missense	51291				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity	g.chr19:19749075G>A	AF132541	CCDS12408.1, CCDS74318.1	19p13.11	2011-09-07				ENSG00000089639		"""Rho GTPase activating proteins"""	24852	protein-coding gene	gene with protein product		609694				12093360, 16086184	Standard	XM_005259927		Approved	ARHGAP46	uc002nnd.3	Q9P107		ENST00000203556.4:c.682C>T	19.37:g.19749075G>A	ENSP00000203556:p.Arg228Trp					GMIP_uc010xrb.1_Missense_Mutation_p.R228W|GMIP_uc010xrc.1_Missense_Mutation_p.R228W	p.R228W	NM_016573	NP_057657	Q9P107	GMIP_HUMAN			9	799	-			228					A0AVN9|B7ZLZ0	Missense_Mutation	SNP	ENST00000203556.4	37	c.682C>T	CCDS12408.1	.	.	.	.	.	.	.	.	.	.	G	12.07	1.826318	0.32329	.	.	ENSG00000089639	ENST00000203556;ENST00000445806	T;T	0.44083	0.93;0.93	3.91	0.291	0.15732	.	0.824404	0.10179	N	0.706150	T	0.23289	0.0563	N	0.22421	0.69	0.26039	N	0.981639	B;B;B	0.15141	0.012;0.006;0.006	B;B;B	0.04013	0.001;0.001;0.001	T	0.25813	-1.0121	10	0.54805	T	0.06	-4.4488	0.6981	0.00902	0.239:0.1766:0.3891:0.1953	.	228;228;228	E7ERB7;B7ZLZ0;Q9P107	.;.;GMIP_HUMAN	W	228	ENSP00000203556:R228W;ENSP00000397075:R228W	ENSP00000203556:R228W	R	-	1	2	GMIP	19610075	0.000000	0.05858	0.823000	0.32752	0.662000	0.39071	-0.025000	0.12413	-0.050000	0.13356	0.491000	0.48974	CGG		PASS	0.716	GMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460551.1	NM_016573		8	60	8	60	---	---	---	---
ZNF676	163223	broad.mit.edu	37	19	22363001	22363001	+	Silent	SNP	T	T	C			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr19:22363001T>C	ENST00000397121.2	-	3	1835	c.1518A>G	c.(1516-1518)aaA>aaG	p.K506K		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	506					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.K506K(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				ATTCTTCACATTTGTAGCGTT	0.388																																						uc002nqs.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1516-1518)AAA>AAG		zinc finger protein 676							64.0	68.0	67.0					19																	22363001		2159	4276	6435	SO:0001819	synonymous_variant	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22363001T>C	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.1518A>G	19.37:g.22363001T>C							p.K506K	NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN			3	1836	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	506			C2H2-type 13.		A8MVX5	Silent	SNP	ENST00000397121.2	37	c.1518A>G	CCDS42539.1																																																																																				PASS	0.388	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		5	232	5	232	---	---	---	---
ZNF676	163223	broad.mit.edu	37	19	22363757	22363757	+	Silent	SNP	T	T	C			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr19:22363757T>C	ENST00000397121.2	-	3	1079	c.762A>G	c.(760-762)aaA>aaG	p.K254K		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	254					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.K254K(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				ATTCTTCACATTTGTAGGGTT	0.383																																						uc002nqs.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(760-762)AAA>AAG		zinc finger protein 676							80.0	87.0	85.0					19																	22363757		2162	4277	6439	SO:0001819	synonymous_variant	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22363757T>C	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.762A>G	19.37:g.22363757T>C							p.K254K	NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN			3	1080	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	254			C2H2-type 4.		A8MVX5	Silent	SNP	ENST00000397121.2	37	c.762A>G	CCDS42539.1																																																																																				PASS	0.383	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		12	275	12	275	---	---	---	---
UBA2	10054	broad.mit.edu	37	19	34945384	34945384	+	Missense_Mutation	SNP	A	A	T			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr19:34945384A>T	ENST00000246548.4	+	12	1238	c.1168A>T	c.(1168-1170)Act>Tct	p.T390S	UBA2_ENST00000439527.2_Missense_Mutation_p.T294S	NM_005499.2	NP_005490.1	Q9UBT2	SAE2_HUMAN	ubiquitin-like modifier activating enzyme 2	390					cellular protein metabolic process (GO:0044267)|positive regulation of catalytic activity (GO:0043085)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)|SMT3-dependent protein catabolic process (GO:0019950)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|SUMO activating enzyme complex (GO:0031510)	ATP binding (GO:0005524)|enzyme activator activity (GO:0008047)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|SUMO activating enzyme activity (GO:0019948)	p.T390S(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			TATTGCTACTACTAATGCAGT	0.343																																						uc002nvk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1168-1170)ACT>TCT		SUMO-1 activating enzyme subunit 2							69.0	66.0	67.0					19																	34945384		2203	4299	6502	SO:0001583	missense	10054				protein sumoylation	nucleus	ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity	g.chr19:34945384A>T	BC003153	CCDS12439.1	19q13.11	2008-02-05	2007-11-30	2007-11-30		ENSG00000126261		"""Ubiquitin-like modifier activating enzymes"""	30661	protein-coding gene	gene with protein product	"""UBA2, ubiquitin-activating enzyme E1 homolog (yeast)"""	613295	"""SUMO1 activating enzyme subunit 2"""	SAE2		10187858, 9920803	Standard	NM_005499		Approved	FLJ13058, HRIHFB2115, ARX	uc002nvk.3	Q9UBT2		ENST00000246548.4:c.1168A>T	19.37:g.34945384A>T	ENSP00000246548:p.Thr390Ser					UBA2_uc010xrx.1_Missense_Mutation_p.T263S|UBA2_uc002nvl.2_Missense_Mutation_p.T294S	p.T390S	NM_005499	NP_005490	Q9UBT2	SAE2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.211)		12	1238	+	Esophageal squamous(110;0.162)		390					B3KWB9|O95605|Q59H87|Q6IBP6|Q9NTJ1|Q9UED2	Missense_Mutation	SNP	ENST00000246548.4	37	c.1168A>T	CCDS12439.1	.	.	.	.	.	.	.	.	.	.	A	28.2	4.902166	0.92035	.	.	ENSG00000126261	ENST00000542624;ENST00000246548;ENST00000439527	T;T	0.61040	0.14;0.14	5.74	5.74	0.90152	Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.82038	0.4950	M	0.93507	3.425	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.86624	0.1881	10	0.72032	D	0.01	-23.2226	15.3236	0.74141	1.0:0.0:0.0:0.0	.	390	Q9UBT2	SAE2_HUMAN	S	263;390;294	ENSP00000246548:T390S;ENSP00000437484:T294S	ENSP00000246548:T390S	T	+	1	0	UBA2	39637224	1.000000	0.71417	0.994000	0.49952	0.992000	0.81027	8.567000	0.90737	2.317000	0.78254	0.460000	0.39030	ACT		PASS	0.343	UBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459257.3	NM_005499		14	45	14	45	---	---	---	---
ZNF569	148266	broad.mit.edu	37	19	37904971	37904971	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr19:37904971G>T	ENST00000316950.6	-	6	1146	c.589C>A	c.(589-591)Cag>Aag	p.Q197K	ZNF569_ENST00000392150.2_Missense_Mutation_p.Q38K|ZNF569_ENST00000392149.2_Missense_Mutation_p.Q197K	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	197					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.Q197K(1)		breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCCAAAGTCTGATTGAAGCCT	0.373																																						uc002ogi.2																			1	Substitution - Missense(1)		lung(1)	breast(2)|skin(1)	3						c.(589-591)CAG>AAG		zinc finger protein 569							68.0	69.0	69.0					19																	37904971		2203	4300	6503	SO:0001583	missense	148266				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37904971G>T	AL833408	CCDS12503.1	19q13.12	2013-09-20			ENSG00000196437	ENSG00000196437		"""Zinc fingers, C2H2-type"", ""-"""	24737	protein-coding gene	gene with protein product		613904				12477932	Standard	NM_152484		Approved	FLJ32053, ZAP1	uc002ogi.3	Q5MCW4	OTTHUMG00000048172	ENST00000316950.6:c.589C>A	19.37:g.37904971G>T	ENSP00000325018:p.Gln197Lys					ZNF569_uc002ogh.2_Missense_Mutation_p.Q38K|ZNF569_uc002ogj.2_Missense_Mutation_p.Q221K	p.Q197K	NM_152484	NP_689697	Q5MCW4	ZN569_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		6	1147	-			197			C2H2-type 1.		A8K1S2|Q15925|Q17RR6|Q96MQ2	Missense_Mutation	SNP	ENST00000316950.6	37	c.589C>A	CCDS12503.1	.	.	.	.	.	.	.	.	.	.	G	8.928	0.962753	0.18583	.	.	ENSG00000196437	ENST00000316950;ENST00000392150	T;T	0.28454	1.61;3.2	3.73	3.73	0.42828	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.36101	N	0.002782	T	0.25606	0.0623	L	0.50333	1.59	0.19300	N	0.99997	B;B	0.33694	0.421;0.062	B;B	0.24701	0.055;0.024	T	0.14868	-1.0457	10	0.27785	T	0.31	.	14.7762	0.69734	0.0:0.0:1.0:0.0	.	38;197	Q17RR6;Q5MCW4	.;ZN569_HUMAN	K	197;38	ENSP00000325018:Q197K;ENSP00000375993:Q38K	ENSP00000325018:Q197K	Q	-	1	0	ZNF569	42596811	0.000000	0.05858	0.138000	0.22173	0.973000	0.67179	0.811000	0.27198	2.083000	0.62718	0.591000	0.81541	CAG		PASS	0.373	ZNF569-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109594.2	NM_152484		7	173	7	173	---	---	---	---
SNRPA	6626	broad.mit.edu	37	19	41268920	41268920	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr19:41268920C>T	ENST00000243563.3	+	4	1091	c.541C>T	c.(541-543)Cca>Tca	p.P181S		NM_004596.4	NP_004587.1	P09012	SNRPA_HUMAN	small nuclear ribonucleoprotein polypeptide A	181	Pro-rich.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|snRNA binding (GO:0017069)	p.P181S(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			TGGCCAGATCCCACCAGGGGC	0.642																																						uc002ooz.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(541-543)CCA>TCA		small nuclear ribonucleoprotein polypeptide A							25.0	27.0	26.0					19																	41268920		2203	4300	6503	SO:0001583	missense	6626					nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding	g.chr19:41268920C>T	X06347	CCDS12565.1	19q13.1	2013-02-12				ENSG00000077312		"""RNA binding motif (RRM) containing"""	11151	protein-coding gene	gene with protein product		182285				1701111	Standard	NM_004596		Approved	U1A, U1-A, Mud1	uc002ooz.3	P09012		ENST00000243563.3:c.541C>T	19.37:g.41268920C>T	ENSP00000243563:p.Pro181Ser					SNRPA_uc002opa.2_Missense_Mutation_p.P131S	p.P181S	NM_004596	NP_004587	P09012	SNRPA_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		4	1076	+			181			Pro-rich.			Missense_Mutation	SNP	ENST00000243563.3	37	c.541C>T	CCDS12565.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.932201	0.73442	.	.	ENSG00000077312	ENST00000243563;ENST00000545469	T	0.28069	1.63	5.54	5.54	0.83059	.	0.054296	0.85682	D	0.000000	T	0.39145	0.1067	M	0.66939	2.045	0.53005	D	0.999967	B	0.19200	0.034	B	0.26864	0.074	T	0.24048	-1.0171	10	0.62326	D	0.03	-8.0148	18.2346	0.89946	0.0:1.0:0.0:0.0	.	181	P09012	SNRPA_HUMAN	S	181;102	ENSP00000243563:P181S	ENSP00000243563:P181S	P	+	1	0	SNRPA	45960760	1.000000	0.71417	0.881000	0.34555	0.999000	0.98932	4.176000	0.58269	2.592000	0.87571	0.655000	0.94253	CCA		PASS	0.642	SNRPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463118.2	NM_004596		9	106	9	106	---	---	---	---
PSG5	5673	broad.mit.edu	37	19	43680143	43680143	+	Silent	SNP	G	G	A			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr19:43680143G>A	ENST00000366175.3	-	3	718	c.588C>T	c.(586-588)ccC>ccT	p.P196P	PSG5_ENST00000599812.1_Silent_p.P289P|PSG5_ENST00000407356.1_Silent_p.P196P|PSG5_ENST00000407568.1_Intron|PSG5_ENST00000342951.6_Silent_p.P196P|PSG5_ENST00000404580.1_Silent_p.P196P			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	196	Ig-like C2-type 1.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.P196P(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				TGTTTTCAATGGGTCGCTTTA	0.498																																						uc002ovu.2																			1	Substitution - coding silent(1)		lung(1)	skin(3)	3						c.(586-588)CCC>CCT		pregnancy specific beta-1-glycoprotein 5							99.0	107.0	104.0					19																	43680143		2200	4276	6476	SO:0001819	synonymous_variant	5673				female pregnancy	extracellular region		g.chr19:43680143G>A		CCDS12617.1	19q13.2	2013-01-29			ENSG00000204941	ENSG00000204941		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9522	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1 glycoprotein"", ""pregnancy-specific beta 1 glycoprotein"""	176394				2735907	Standard	NM_002781		Approved	FL-NCA-3, PSG	uc002ovx.3	Q15238	OTTHUMG00000151539	ENST00000366175.3:c.588C>T	19.37:g.43680143G>A						PSG6_uc010xwk.1_Intron|PSG5_uc010eir.2_Intron|PSG5_uc002ovx.2_Silent_p.P196P|PSG5_uc002ovv.2_Silent_p.P289P|PSG5_uc002ovw.2_Intron	p.P196P	NM_002781	NP_002772	Q15238	PSG5_HUMAN			3	719	-		Prostate(69;0.00899)	196			Ig-like C2-type 1.		Q15239|Q96QJ1|Q9UQ75	Silent	SNP	ENST00000366175.3	37	c.588C>T	CCDS12617.1																																																																																				PASS	0.498	PSG5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000323055.1	NM_002781		144	283	144	283	---	---	---	---
ZNF222	7673	broad.mit.edu	37	19	44537128	44537128	+	Missense_Mutation	SNP	A	A	G	rs573537034		TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr19:44537128A>G	ENST00000187879.8	+	4	1463	c.1301A>G	c.(1300-1302)tAc>tGc	p.Y434C	ZNF223_ENST00000591793.1_Intron|ZNF222_ENST00000391960.3_Missense_Mutation_p.Y474C	NM_013360.2	NP_037492.2	Q9UK12	ZN222_HUMAN	zinc finger protein 222	434					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.Y474C(1)|p.Y434C(1)		endometrium(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20		Prostate(69;0.0435)				GGGAAGCGCTACAAGAGGCGC	0.363													A|||	1	0.000199681	0.0	0.0	5008	,	,		17631	0.0		0.0	False		,,,				2504	0.001					uc002oyc.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(1300-1302)TAC>TGC		zinc finger protein 222 isoform 2							54.0	56.0	55.0					19																	44537128		2203	4300	6503	SO:0001583	missense	7673				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44537128A>G	AF187988	CCDS33045.1, CCDS46098.1	19q13.2	2013-01-08				ENSG00000159885		"""Zinc fingers, C2H2-type"", ""-"""	13015	protein-coding gene	gene with protein product							Standard	NM_013360		Approved		uc002oye.3	Q9UK12		ENST00000187879.8:c.1301A>G	19.37:g.44537128A>G	ENSP00000187879:p.Tyr434Cys					ZNF284_uc010ejd.2_Intron|ZNF222_uc002oye.2_Missense_Mutation_p.Y474C|ZNF222_uc002oyd.2_Missense_Mutation_p.Y380C	p.Y434C	NM_013360	NP_037492	Q9UK12	ZN222_HUMAN			4	1484	+		Prostate(69;0.0435)	434					G5E9B9|Q8N6G7|Q9P1U5	Missense_Mutation	SNP	ENST00000187879.8	37	c.1301A>G	CCDS33045.1	.	.	.	.	.	.	.	.	.	.	A	16.18	3.050756	0.55218	.	.	ENSG00000159885	ENST00000391960;ENST00000187879;ENST00000251272	T;T	0.17691	2.26;2.26	2.4	-3.96	0.04106	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.27205	0.0667	L	0.42487	1.325	0.23673	N	0.997148	D;D	0.89917	1.0;1.0	D;D	0.76071	0.978;0.987	T	0.21143	-1.0254	9	0.72032	D	0.01	.	8.4156	0.32670	0.7645:0.0:0.0:0.2355	.	474;434	G5E9B9;Q9UK12	.;ZN222_HUMAN	C	474;434;380	ENSP00000375822:Y474C;ENSP00000187879:Y434C	ENSP00000187879:Y434C	Y	+	2	0	ZNF222	49228968	0.685000	0.27652	0.001000	0.08648	0.598000	0.36846	0.273000	0.18662	-0.558000	0.06118	0.172000	0.16884	TAC		PASS	0.363	ZNF222-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000460465.2			54	106	54	106	---	---	---	---
ZNF234	10780	broad.mit.edu	37	19	44661176	44661176	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr19:44661176G>A	ENST00000426739.2	+	6	1265	c.1007G>A	c.(1006-1008)aGg>aAg	p.R336K	ZNF234_ENST00000592437.1_Missense_Mutation_p.R336K	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	336					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R336K(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				ATCCATCAAAGGGTCCACACA	0.438																																						uc002oym.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1006-1008)AGG>AAG		zinc finger protein 234							67.0	74.0	72.0					19																	44661176		2180	4296	6476	SO:0001583	missense	10780				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44661176G>A	X78927	CCDS46101.1	19q13	2013-01-08				ENSG00000263002		"""Zinc fingers, C2H2-type"", ""-"""	13027	protein-coding gene	gene with protein product		604750		ZNF269		7865130	Standard	NM_006630		Approved	HZF4	uc002oyl.4	Q14588		ENST00000426739.2:c.1007G>A	19.37:g.44661176G>A	ENSP00000400878:p.Arg336Lys					ZNF234_uc002oyl.3_Missense_Mutation_p.R336K	p.R336K	NM_006630	NP_006621	Q14588	ZN234_HUMAN			6	1314	+		Prostate(69;0.0435)	336			C2H2-type 7.		A8K1C8|Q96IR4|Q9NS45|Q9NYT7	Missense_Mutation	SNP	ENST00000426739.2	37	c.1007G>A	CCDS46101.1	.	.	.	.	.	.	.	.	.	.	G	10.80	1.452368	0.26074	.	.	ENSG00000167380	ENST00000426739	T	0.02197	4.4	4.02	-1.32	0.09201	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01905	0.0060	L	0.31476	0.935	0.09310	N	1	B	0.14012	0.009	B	0.20577	0.03	T	0.46005	-0.9222	9	0.33141	T	0.24	.	5.7854	0.18331	0.2971:0.188:0.5148:0.0	.	336	Q14588	ZN234_HUMAN	K	336	ENSP00000400878:R336K	ENSP00000400878:R336K	R	+	2	0	ZNF226	49353016	0.000000	0.05858	0.001000	0.08648	0.963000	0.63663	-0.256000	0.08757	0.077000	0.16863	0.591000	0.81541	AGG		PASS	0.438	ZNF234-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460586.2			8	157	8	157	---	---	---	---
DMPK	1760	broad.mit.edu	37	19	46280647	46280647	+	Missense_Mutation	SNP	T	T	A			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr19:46280647T>A	ENST00000291270.4	-	8	1209	c.1084A>T	c.(1084-1086)Acc>Tcc	p.T362S	DMPK_ENST00000354227.5_Missense_Mutation_p.T362S|DMPK_ENST00000447742.2_Missense_Mutation_p.T362S|DMPK_ENST00000343373.4_Missense_Mutation_p.T372S|DMPK_ENST00000595361.1_5'Flank|DMPK_ENST00000600757.1_Missense_Mutation_p.T372S|DMPK_ENST00000458663.2_Missense_Mutation_p.T362S	NM_004409.3	NP_004400.4	Q09013	DMPK_HUMAN	dystrophia myotonica-protein kinase	362	AGC-kinase C-terminal.				cellular calcium ion homeostasis (GO:0006874)|muscle cell apoptotic process (GO:0010657)|nuclear envelope organization (GO:0006998)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|regulation of excitatory postsynaptic membrane potential involved in skeletal muscle contraction (GO:0014853)|regulation of heart contraction (GO:0008016)|regulation of myotube differentiation (GO:0010830)|regulation of skeletal muscle contraction by calcium ion signaling (GO:0014722)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of mitochondrial outer membrane (GO:0031307)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|myosin phosphatase regulator activity (GO:0017020)|protein serine/threonine kinase activity (GO:0004674)	p.T362S(1)|p.T372S(1)		endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		CATGTGTCGGTGGCACCTTCG	0.637																																					Esophageal Squamous(35;307 869 9153 24033 28903)	uc002pdd.1																			2	Substitution - Missense(2)		lung(2)	lung(3)	3						c.(1114-1116)ACC>TCC		myotonic dystrophy protein kinase isoform 1							52.0	43.0	46.0					19																	46280647		2203	4300	6503	SO:0001583	missense	1760				regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr19:46280647T>A	L19268	CCDS12674.1, CCDS46117.1, CCDS46118.1, CCDS46119.1, CCDS74400.1	19q13.3	2014-02-05					2.7.11.1		2933	protein-coding gene	gene with protein product	"""dystrophia myotonica 1"", ""DM protein kinase"", ""myotonin protein kinase A"", ""myotonic dystrophy associated protein kinase"", ""thymopoietin homolog"""	605377	"""dystrophia myotonica 1 (includes dystrophia myotonia protein kinase)"""	DM1, DM		1546325, 1546326	Standard	NM_001288765		Approved	DMK, DM1PK, MDPK, MT-PK	uc002pdf.1	Q09013		ENST00000291270.4:c.1084A>T	19.37:g.46280647T>A	ENSP00000291270:p.Thr362Ser					DMPK_uc010xxs.1_Missense_Mutation_p.T273S|DMPK_uc002pde.1_Missense_Mutation_p.T372S|DMPK_uc002pdf.1_Missense_Mutation_p.T362S|DMPK_uc002pdg.1_Missense_Mutation_p.T362S|DMPK_uc002pdh.1_Missense_Mutation_p.T362S|DMPK_uc002pdi.1_Missense_Mutation_p.T388S|DMPK_uc010xxt.1_Missense_Mutation_p.T362S	p.T372S	NM_001081563	NP_001075032	Q09013	DMPK_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)	7	1658	-		Ovarian(192;0.0308)|all_neural(266;0.112)	372			AGC-kinase C-terminal.		E5KR08|Q16205|Q6P5Z6	Missense_Mutation	SNP	ENST00000291270.4	37	c.1114A>T	CCDS12674.1	.	.	.	.	.	.	.	.	.	.	t	22.2	4.261619	0.80358	.	.	ENSG00000104936	ENST00000458663;ENST00000342805;ENST00000291270;ENST00000447742;ENST00000377750;ENST00000343373;ENST00000348168;ENST00000354227	T;T;T;T;T	0.39056	1.1;1.1;1.1;1.1;1.1	4.63	4.63	0.57726	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.000000	0.47455	D	0.000230	T	0.58779	0.2146	M	0.62723	1.935	0.80722	D	1	P;D;D;D;D;D;D;D	0.76494	0.725;0.999;0.999;0.998;0.998;0.998;0.999;0.999	B;D;D;D;D;D;D;D	0.83275	0.32;0.995;0.996;0.99;0.989;0.99;0.993;0.993	T	0.56757	-0.7926	10	0.34782	T	0.22	.	12.289	0.54807	0.0:0.0:0.0:1.0	.	362;362;388;362;362;362;409;372	Q09013-12;Q09013-16;G5E982;E5KR07;E5KR05;Q09013;Q59FU6;E5KR08	.;.;.;.;.;DMPK_HUMAN;.;.	S	362;388;362;362;362;372;372;362	ENSP00000401753:T362S;ENSP00000291270:T362S;ENSP00000413417:T362S;ENSP00000345997:T372S;ENSP00000346168:T362S	ENSP00000291270:T362S	T	-	1	0	DMPK	50972487	1.000000	0.71417	0.994000	0.49952	0.912000	0.54170	2.127000	0.42035	2.065000	0.61736	0.459000	0.35465	ACC		PASS	0.637	DMPK-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460572.1	NM_004409		59	110	59	110	---	---	---	---
TBC1D17	79735	broad.mit.edu	37	19	50385600	50385600	+	Silent	SNP	C	C	T			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr19:50385600C>T	ENST00000221543.5	+	7	1040	c.741C>T	c.(739-741)tcC>tcT	p.S247S	TBC1D17_ENST00000535102.2_Silent_p.S214S	NM_024682.2	NP_078958	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	247	Required for interaction with OPTN.				autophagy (GO:0006914)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	Rab GTPase activator activity (GO:0005097)	p.S247S(1)		NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		GAGCCGCCTCCGACCTTCCCC	0.617																																						uc002pqo.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(739-741)TCC>TCT		TBC1 domain family, member 17							78.0	77.0	77.0					19																	50385600		2203	4300	6503	SO:0001819	synonymous_variant	79735					intracellular	Rab GTPase activator activity	g.chr19:50385600C>T	AK090606	CCDS12785.1, CCDS54294.1	19q13.33	2013-07-09				ENSG00000104946			25699	protein-coding gene	gene with protein product						22854040	Standard	NM_024682		Approved	FLJ12168	uc002pqo.3	Q9HA65		ENST00000221543.5:c.741C>T	19.37:g.50385600C>T						TBC1D17_uc010enn.1_RNA|TBC1D17_uc010ybg.1_Silent_p.S214S|TBC1D17_uc002pqp.2_5'UTR|TBC1D17_uc002pqq.1_RNA|TBC1D17_uc002pqr.2_5'UTR|TBC1D17_uc002pqs.2_RNA	p.S247S	NM_024682	NP_078958	Q9HA65	TBC17_HUMAN		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)	7	893	+		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)	247					B4DT12|B9A6L8|F5H1W7	Silent	SNP	ENST00000221543.5	37	c.741C>T	CCDS12785.1																																																																																				PASS	0.617	TBC1D17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466404.1	NM_024682		58	169	58	169	---	---	---	---
LRRC4B	94030	broad.mit.edu	37	19	51020877	51020877	+	Missense_Mutation	SNP	A	A	G			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr19:51020877A>G	ENST00000599957.1	-	3	2290	c.2093T>C	c.(2092-2094)cTg>cCg	p.L698P	LRRC4B_ENST00000389201.3_Missense_Mutation_p.L698P|ASPDH_ENST00000597030.1_5'Flank|ASPDH_ENST00000376916.3_5'Flank			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	698					positive regulation of synapse assembly (GO:0051965)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.L698P(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		CTTGAAGAGCAGAGGTTCGTG	0.697																																						uc002pss.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(2092-2094)CTG>CCG		leucine rich repeat containing 4B precursor							26.0	29.0	28.0					19																	51020877		1893	4111	6004	SO:0001583	missense	94030					cell junction|integral to membrane|presynaptic membrane		g.chr19:51020877A>G	BC032460	CCDS42595.1	19q13.33	2014-01-30	2004-06-14	2004-06-16	ENSG00000131409	ENSG00000131409		"""Immunoglobulin superfamily / I-set domain containing"", ""Endogenous ligands"""	25042	protein-coding gene	gene with protein product	"""netrin-G3 ligand"""		"""leucine-rich repeats and immunoglobulin-like domains 4"""	LRIG4		11441184	Standard	NM_001080457		Approved	DKFZp761A179, HSM	uc002pss.3	Q9NT99		ENST00000599957.1:c.2093T>C	19.37:g.51020877A>G	ENSP00000471502:p.Leu698Pro					ASPDH_uc002psr.3_5'Flank	p.L698P	NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)	3	2230	-		all_neural(266;0.131)	698			Cytoplasmic (Potential).		Q3ZCQ4|Q58F20	Missense_Mutation	SNP	ENST00000599957.1	37	c.2093T>C	CCDS42595.1	.	.	.	.	.	.	.	.	.	.	A	14.42	2.531205	0.45073	.	.	ENSG00000131409	ENST00000389201	T	0.30981	1.51	2.61	2.61	0.31194	.	0.000000	0.47093	U	0.000248	T	0.47838	0.1467	M	0.66939	2.045	0.58432	D	0.999999	D	0.71674	0.998	D	0.70487	0.969	T	0.48625	-0.9019	10	0.87932	D	0	.	8.711	0.34385	1.0:0.0:0.0:0.0	.	698	Q9NT99	LRC4B_HUMAN	P	698	ENSP00000373853:L698P	ENSP00000373853:L698P	L	-	2	0	LRRC4B	55712689	0.084000	0.21492	1.000000	0.80357	0.983000	0.72400	3.511000	0.53400	1.203000	0.43233	0.374000	0.22700	CTG		PASS	0.697	LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464907.1	NM_001080457		13	60	13	60	---	---	---	---
ZNF613	79898	broad.mit.edu	37	19	52447996	52447996	+	Nonsense_Mutation	SNP	C	C	G			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr19:52447996C>G	ENST00000293471.6	+	6	1539	c.860C>G	c.(859-861)tCa>tGa	p.S287*	ZNF613_ENST00000391794.4_Nonsense_Mutation_p.S251*	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	287					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.S287*(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		GGAGAGAAGTCATATATATGC	0.433																																						uc002pxz.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(859-861)TCA>TGA		zinc finger protein 613 isoform 1							70.0	76.0	74.0					19																	52447996		2203	4300	6503	SO:0001587	stop_gained	79898				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52447996C>G	AK027565	CCDS12844.1, CCDS33089.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	25827	protein-coding gene	gene with protein product						12477932	Standard	NM_001031721		Approved	FLJ13590	uc002pxz.2	Q6PF04		ENST00000293471.6:c.860C>G	19.37:g.52447996C>G	ENSP00000293471:p.Ser287*					ZNF613_uc002pya.1_Nonsense_Mutation_p.S251*	p.S287*	NM_001031721	NP_001026891	Q6PF04	ZN613_HUMAN		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)	6	1283	+		all_neural(266;0.117)	287					Q96SS9	Nonsense_Mutation	SNP	ENST00000293471.6	37	c.860C>G	CCDS33089.1	.	.	.	.	.	.	.	.	.	.	C	35	5.460589	0.96240	.	.	ENSG00000176024	ENST00000293471;ENST00000391794	.	.	.	3.1	3.1	0.35709	.	0.258668	0.20631	N	0.088582	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.4498	0.61163	0.0:1.0:0.0:0.0	.	.	.	.	X	287;251	.	ENSP00000293471:S287X	S	+	2	0	ZNF613	57139808	0.001000	0.12720	0.032000	0.17829	0.085000	0.17905	1.458000	0.35223	1.730000	0.51580	0.655000	0.94253	TCA		PASS	0.433	ZNF613-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461104.2	NM_024840		20	166	20	166	---	---	---	---
VN1R2	317701	broad.mit.edu	37	19	53762720	53762720	+	Silent	SNP	T	T	C			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr19:53762720T>C	ENST00000341702.3	+	1	1176	c.1092T>C	c.(1090-1092)ccT>ccC	p.P364P	VN1R2_ENST00000598458.1_Intron	NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	364					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)	p.P364P(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		CTATTAGCCCTTTTGTTCTCA	0.433																																						uc002qbi.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1090-1092)CCT>CCC		vomeronasal 1 receptor 2							196.0	182.0	187.0					19																	53762720		2203	4300	6503	SO:0001819	synonymous_variant	317701				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	g.chr19:53762720T>C	AF370359	CCDS12862.1	19q13.42	2012-08-22			ENSG00000196131	ENSG00000196131		"""Vomeronasal receptors / Type 1"", ""GPCR / Unclassified : Vomeronasal receptors, type 1"""	19872	protein-coding gene	gene with protein product						12123587	Standard	NM_173856		Approved	V1RL2	uc002qbi.2	Q8NFZ6		ENST00000341702.3:c.1092T>C	19.37:g.53762720T>C							p.P364P	NM_173856	NP_776255	Q8NFZ6	VN1R2_HUMAN		GBM - Glioblastoma multiforme(134;0.00301)	1	1176	+			364			Helical; Name=7; (Potential).		A1L411|Q8TDU4	Silent	SNP	ENST00000341702.3	37	c.1092T>C	CCDS12862.1																																																																																				PASS	0.433	VN1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464285.1	NM_173856		4	648	4	648	---	---	---	---
VSTM1	284415	broad.mit.edu	37	19	54567035	54567035	+	De_novo_Start_OutOfFrame	SNP	G	G	A			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr19:54567035G>A	ENST00000338372.2	-	0	172				VSTM1_ENST00000366170.2_De_novo_Start_InFrame|VSTM1_ENST00000425006.2_De_novo_Start_OutOfFrame|VSTM1_ENST00000376626.1_De_novo_Start_OutOfFrame	NM_198481.3	NP_940883.2	Q6UX27	VSTM1_HUMAN	V-set and transmembrane domain containing 1						immune system process (GO:0002376)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.165)		CGGTCATAGCGTCCCTTCTGC	0.627																																						uc002qcw.3																			0					0						c.(-5--1)GACGC>GATGC		V-set and transmembrane domain containing 1							148.0	149.0	149.0					19																	54567035		2203	4300	6503			284415					integral to membrane		g.chr19:54567035G>A	AY358542	CCDS12872.1, CCDS74441.1, CCDS74442.1	19q13.42	2013-01-11			ENSG00000189068	ENSG00000189068		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29455	protein-coding gene	gene with protein product						12975309	Standard	NM_198481		Approved	UNQ3033	uc002qcw.4	Q6UX27	OTTHUMG00000064906	ENST00000338372.2:c.-4C>T	19.37:g.54567035G>A						VSTM1_uc010erb.2_RNA|VSTM1_uc002qcx.3_Translation_Start_Site		NM_198481	NP_940883	Q6UX27	VSTM1_HUMAN		GBM - Glioblastoma multiforme(134;0.165)	1	173	-	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)							B6A8C6|D2DJS3|D2DJS4|Q496B6|Q496B7	Translation_Start_Site	SNP	ENST00000338372.2	37	c.-3C>T	CCDS12872.1																																																																																				PASS	0.627	VSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139358.3	NM_198481		17	605	17	605	---	---	---	---
NLRP5	126206	broad.mit.edu	37	19	56544122	56544122	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr19:56544122C>A	ENST00000390649.3	+	8	2422	c.2422C>A	c.(2422-2424)Ccc>Acc	p.P808T		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	808					cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)	p.P808T(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GCTGAGGCATCCCACCTGCAA	0.617																																						uc002qmj.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7						c.(2422-2424)CCC>ACC		NACHT, LRR and PYD containing protein 5							121.0	127.0	125.0					19																	56544122		2092	4230	6322	SO:0001583	missense	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56544122C>A	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"""Nucleotide-binding domain and leucine rich repeat containing"""	21269	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"""	609658	"""NACHT, leucine rich repeat and PYD containing 5"""	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.2422C>A	19.37:g.56544122C>A	ENSP00000375063:p.Pro808Thr					NLRP5_uc002qmi.2_Missense_Mutation_p.P789T	p.P808T	NM_153447	NP_703148	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	8	2422	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	808					A8MTY4|Q86W29	Missense_Mutation	SNP	ENST00000390649.3	37	c.2422C>A	CCDS12938.1	.	.	.	.	.	.	.	.	.	.	c	13.45	2.240476	0.39598	.	.	ENSG00000171487	ENST00000390649	D	0.91464	-2.85	4.84	-0.242	0.13039	.	2.063700	0.02864	N	0.130684	D	0.94251	0.8154	M	0.86097	2.795	0.09310	N	1	P	0.49862	0.929	P	0.57468	0.821	T	0.79794	-0.1653	10	0.66056	D	0.02	.	5.7278	0.18022	0.0:0.515:0.3011:0.1839	.	808	P59047	NALP5_HUMAN	T	808	ENSP00000375063:P808T	ENSP00000375063:P808T	P	+	1	0	NLRP5	61235934	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.435000	0.21510	0.190000	0.20209	-0.124000	0.14976	CCC		PASS	0.617	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		73	276	73	276	---	---	---	---
PEG3	5178	broad.mit.edu	37	19	57328467	57328467	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr19:57328467C>G	ENST00000326441.9	-	10	1706	c.1343G>C	c.(1342-1344)gGg>gCg	p.G448A	ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.G448A|PEG3_ENST00000593695.1_Missense_Mutation_p.G322A|PEG3_ENST00000598410.1_Missense_Mutation_p.G324A|ZIM2_ENST00000601070.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	448					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.G448A(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TGGCATTGCCCCAAAATCAAT	0.488																																						uc002qnu.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(1342-1344)GGG>GCG		paternally expressed 3 isoform 1							182.0	165.0	171.0					19																	57328467		2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57328467C>G	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.1343G>C	19.37:g.57328467C>G	ENSP00000326581:p.Gly448Ala					ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.G419A|PEG3_uc002qnv.2_Missense_Mutation_p.G448A|PEG3_uc002qnw.2_Missense_Mutation_p.G324A|PEG3_uc002qnx.2_Missense_Mutation_p.G322A|PEG3_uc010etr.2_Missense_Mutation_p.G448A	p.G448A	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	7	1694	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	448					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.1343G>C	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	C	5.411	0.260949	0.10239	.	.	ENSG00000198300	ENST00000326441;ENST00000423103;ENST00000292074	T;T	0.05199	3.48;3.48	4.14	-2.72	0.05968	.	1.027230	0.07764	N	0.950663	T	0.04588	0.0125	N	0.20986	0.625	.	.	.	B;B;B	0.33494	0.227;0.227;0.414	B;B;B	0.26969	0.075;0.034;0.063	T	0.37009	-0.9724	9	0.72032	D	0.01	-15.6532	11.0769	0.48036	0.0:0.3393:0.5785:0.0822	.	324;448;383	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	A	448;448;418	ENSP00000326581:G448A;ENSP00000403051:G448A	ENSP00000292074:G418A	G	-	2	0	ZIM2	62020279	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.068000	0.11561	-0.288000	0.09051	-0.172000	0.13284	GGG		PASS	0.488	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			114	335	114	335	---	---	---	---
SEC23B	10483	broad.mit.edu	37	20	18506561	18506561	+	Silent	SNP	T	T	C	rs577955026		TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr20:18506561T>C	ENST00000336714.3	+	7	1251	c.819T>C	c.(817-819)gcT>gcC	p.A273A	SEC23B_ENST00000377465.1_Silent_p.A273A|SEC23B_ENST00000377475.3_Silent_p.A273A|SEC23B_ENST00000262544.2_Silent_p.A273A	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN	Sec23 homolog B (S. cerevisiae)	273					ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)	p.A273A(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						TGTCCATTGCTGTTGGCTTGC	0.438													T|||	1	0.000199681	0.0	0.0	5008	,	,		18476	0.0		0.0	False		,,,				2504	0.001					uc002wqz.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(817-819)GCT>GCC		Sec23 homolog B							113.0	112.0	112.0					20																	18506561		2203	4300	6503	SO:0001819	synonymous_variant	10483				ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding	g.chr20:18506561T>C	X97065	CCDS13137.1	20p11.23	2010-02-09	2001-11-28		ENSG00000101310	ENSG00000101310			10702	protein-coding gene	gene with protein product		610512	"""Sec23 (S. cerevisiae) homolog B"", ""congenital dyserythropoietic anemia, type II"""	CDAN2		8898360, 10329445, 19621418	Standard	NM_032985		Approved	CDA-II, CDAII, HEMPAS	uc002wrb.2	Q15437	OTTHUMG00000031976	ENST00000336714.3:c.819T>C	20.37:g.18506561T>C						SEC23B_uc002wra.1_Silent_p.A273A|SEC23B_uc002wrb.1_Silent_p.A273A|SEC23B_uc010zsb.1_Silent_p.A255A|SEC23B_uc002wrc.1_Silent_p.A273A	p.A273A	NM_006363	NP_006354	Q15437	SC23B_HUMAN			7	1262	+			273					D3DW33|Q503A9|Q5W183|Q9BS15|Q9BSI2|Q9H1D7	Silent	SNP	ENST00000336714.3	37	c.819T>C	CCDS13137.1																																																																																				PASS	0.438	SEC23B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078184.5			4	355	4	355	---	---	---	---
GZF1	64412	broad.mit.edu	37	20	23349405	23349405	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr20:23349405G>C	ENST00000338121.5	+	4	1543	c.1466G>C	c.(1465-1467)aGa>aCa	p.R489T	GZF1_ENST00000544236.1_Missense_Mutation_p.R13T|GZF1_ENST00000542987.1_5'UTR|GZF1_ENST00000377051.2_Missense_Mutation_p.R489T|GZF1_ENST00000461789.1_3'UTR			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	489					branching involved in ureteric bud morphogenesis (GO:0001658)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|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 negative regulation of transcription (GO:0001206)|sequence-specific DNA binding (GO:0043565)	p.R489T(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					GTAGGTGAAAGACCTTTTATG	0.358																																						uc010gdb.2																			1	Substitution - Missense(1)		lung(1)	kidney(1)	1						c.(1465-1467)AGA>ACA		GDNF-inducible zinc finger protein 1							99.0	95.0	96.0					20																	23349405		2203	4300	6503	SO:0001583	missense	64412				transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding	g.chr20:23349405G>C	AK025447	CCDS13151.1	20p11.21	2013-01-09	2006-09-19	2006-09-19	ENSG00000125812	ENSG00000125812		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	15808	protein-coding gene	gene with protein product		613842	"""zinc finger protein 336"""	ZNF336		14522971, 16049025	Standard	NM_022482		Approved	dJ322G13.2, ZBTB23	uc002wsz.3	Q9H116	OTTHUMG00000032069	ENST00000338121.5:c.1466G>C	20.37:g.23349405G>C	ENSP00000338290:p.Arg489Thr					GZF1_uc002wsy.2_Missense_Mutation_p.R489T|GZF1_uc010zsq.1_Missense_Mutation_p.R13T|GZF1_uc010zsr.1_5'UTR|GZF1_uc002wsz.2_Missense_Mutation_p.R489T	p.R489T	NM_022482	NP_071927	Q9H116	GZF1_HUMAN			5	1640	+	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)		489					A8K199|B2RBC3|B3KPL4|B4DF58|D3DW39|Q54A22|Q96N08|Q9BQK9|Q9H117|Q9H6W6	Missense_Mutation	SNP	ENST00000338121.5	37	c.1466G>C	CCDS13151.1	.	.	.	.	.	.	.	.	.	.	G	18.82	3.705560	0.68615	.	.	ENSG00000125812	ENST00000544236;ENST00000338121;ENST00000377051	T;T;T	0.17854	2.25;2.25;2.25	5.87	4.93	0.64822	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.168304	0.40222	N	0.001141	T	0.25082	0.0609	M	0.64404	1.975	0.80722	D	1	P	0.47484	0.896	P	0.47941	0.562	T	0.01920	-1.1247	10	0.87932	D	0	.	10.0991	0.42493	0.1502:0.0:0.8498:0.0	.	489	Q9H116	GZF1_HUMAN	T	13;489;489	ENSP00000445458:R13T;ENSP00000338290:R489T;ENSP00000366250:R489T	ENSP00000338290:R489T	R	+	2	0	GZF1	23297405	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	5.202000	0.65169	1.491000	0.48482	0.650000	0.86243	AGA		PASS	0.358	GZF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078333.1	NM_022482		5	411	5	411	---	---	---	---
CHD6	84181	broad.mit.edu	37	20	40065951	40065951	+	Missense_Mutation	SNP	T	T	A			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr20:40065951T>A	ENST00000373233.3	-	27	4208	c.4031A>T	c.(4030-4032)aAt>aTt	p.N1344I		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1344					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)	p.N1344I(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GTCCTCAGCATTGTCTTCTTT	0.398																																						uc002xka.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14						c.(4030-4032)AAT>ATT		chromodomain helicase DNA binding protein 6							189.0	152.0	164.0					20																	40065951		2203	4300	6503	SO:0001583	missense	84181				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40065951T>A	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.4031A>T	20.37:g.40065951T>A	ENSP00000362330:p.Asn1344Ile					CHD6_uc002xkb.1_Missense_Mutation_p.N110I	p.N1344I	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN			27	4209	-		Myeloproliferative disorder(115;0.00425)	1344					Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	c.4031A>T	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	T	14.63	2.591673	0.46214	.	.	ENSG00000124177	ENST00000373233	D	0.86865	-2.18	5.04	1.57	0.23409	.	0.289323	0.30020	N	0.010604	T	0.78729	0.4329	L	0.40543	1.245	0.80722	D	1	B	0.02656	0.0	B	0.09377	0.004	T	0.69026	-0.5254	10	0.45353	T	0.12	-13.2941	6.8853	0.24197	0.0:0.2868:0.0:0.7132	.	1344	Q8TD26	CHD6_HUMAN	I	1344	ENSP00000362330:N1344I	ENSP00000362330:N1344I	N	-	2	0	CHD6	39499365	0.982000	0.34865	0.998000	0.56505	0.990000	0.78478	0.156000	0.16382	0.351000	0.24027	0.533000	0.62120	AAT		PASS	0.398	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			59	78	59	78	---	---	---	---
GNAS	2778	broad.mit.edu	37	20	57429324	57429324	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr20:57429324C>A	ENST00000371100.4	+	1	1556	c.1004C>A	c.(1003-1005)cCg>cAg	p.P335Q	GNAS_ENST00000371099.2_Missense_Mutation_p.P335Q|GNAS_ENST00000371102.4_Missense_Mutation_p.P335Q|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000306120.3_Missense_Mutation_p.R272S	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.P335Q(1)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CTTGACGGCCCGCCCATCAAG	0.647			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)	uc002xzw.2				Dom	yes		20	20q13.2	2778	Mis	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	yes	McCune-Albright syndrome; pseudohypoparathyroidism|type IA	E			pituitary adenoma		1	Substitution - Missense(1)		lung(1)	pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1)	292						c.(1003-1005)CCG>CAG		GNAS complex locus XLas							16.0	22.0	20.0					20																	57429324		1924	4110	6034	SO:0001583	missense	2778	3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome			activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	g.chr20:57429324C>A	M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"""secretogranin VI"""	139320	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371100.4:c.1004C>A	20.37:g.57429324C>A	ENSP00000360141:p.Pro335Gln	TSP Lung(22;0.16)				GNAS_uc002xzt.2_Intron|GNAS_uc002xzu.3_Intron|GNAS_uc010gjq.2_Intron|GNAS_uc002xzv.2_RNA	p.P335Q	NM_080425	NP_536350	P63092	GNAS2_HUMAN	BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)		1	1289	+	all_lung(29;0.0104)		Error:Variant_position_missing_in_P63092_after_alignment					A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	ENST00000371100.4	37	c.1004C>A	CCDS46622.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.80|11.80	1.747393|1.747393	0.30955|0.30955	.|.	.|.	ENSG00000087460|ENSG00000087460	ENST00000371099;ENST00000371100;ENST00000371102|ENST00000306120	D;D|.	0.89415|.	-2.51;-2.51|.	3.76|3.76	1.8|1.8	0.24995|0.24995	.|.	4.244870|.	0.00991|.	N|.	0.003533|.	T|T	0.39989|0.39989	0.1099|0.1099	L|L	0.32530|0.32530	0.975|0.975	0.80722|0.80722	D|D	1|1	D|.	0.59767|.	0.986|.	P|.	0.52646|.	0.705|.	T|T	0.06267|0.06267	-1.0836|-1.0836	10|6	0.62326|0.13470	D|T	0.03|0.59	.|.	7.1406|7.1406	0.25554|0.25554	0.0:0.7223:0.1753:0.1025|0.0:0.7223:0.1753:0.1025	.|.	335|.	Q5JWF2|.	GNAS1_HUMAN|.	Q|S	335|272	ENSP00000360141:P335Q;ENSP00000360143:P335Q|.	ENSP00000360140:P335Q|ENSP00000302237:R272S	P|R	+|+	2|1	0|0	GNAS|GNAS	56862719|56862719	0.472000|0.472000	0.25870|0.25870	0.994000|0.994000	0.49952|0.49952	0.592000|0.592000	0.36648|0.36648	0.494000|0.494000	0.22467|0.22467	0.567000|0.567000	0.29293|0.29293	0.462000|0.462000	0.41574|0.41574	CCG|CGC		PASS	0.647	GNAS-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080417.3	NM_000516		3	35	3	35	---	---	---	---
LAMA5	3911	broad.mit.edu	37	20	60903446	60903446	+	Silent	SNP	C	C	T	rs200643051	byFrequency	TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr20:60903446C>T	ENST00000252999.3	-	35	4569	c.4503G>A	c.(4501-4503)ccG>ccA	p.P1501P		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1501	Laminin EGF-like 13. {ECO:0000255|PROSITE-ProRule:PRU00460}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)	p.P1501P(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			TGGTGCGTGGCGGGCAGATGC	0.682													C|||	2	0.000399361	0.0015	0.0	5008	,	,		15339	0.0		0.0	False		,,,				2504	0.0					uc002ycq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(4501-4503)CCG>CCA		laminin alpha 5 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	C		0,4360		0,0,2180	18.0	20.0	19.0		4503	-9.0	0.0	20		19	1,8551		0,1,4275	no	coding-synonymous	LAMA5	NM_005560.3		0,1,6455	TT,TC,CC		0.0117,0.0,0.0077		1501/3696	60903446	1,12911	2180	4276	6456	SO:0001819	synonymous_variant	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60903446C>T	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.4503G>A	20.37:g.60903446C>T							p.P1501P	NM_005560	NP_005551	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		35	4570	-	Breast(26;1.57e-08)		1501			Laminin EGF-like 13.		Q8TDF8|Q8WZA7|Q9H1P1	Silent	SNP	ENST00000252999.3	37	c.4503G>A	CCDS33502.1																																																																																				PASS	0.682	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		6	9	6	9	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11097628	11097628	+	RNA	SNP	C	C	A			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr21:11097628C>A	ENST00000470054.1	-	0	241							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		agcagctgggcagacaatgcc	0.557																																						uc002yit.1																			0					0						c.(34-36)GCC>TCC		B melanoma antigen family, member 2 precursor							61.0	78.0	72.0					21																	11097628		1444	2599	4043			85319							g.chr21:11097628C>A	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11097628C>A						BAGE_uc002yix.2_RNA	p.A12S	NM_182482	NP_872288			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	2	242	-								A8K925|Q08ER0	Missense_Mutation	SNP	ENST00000470054.1	37	c.34G>T																																																																																					PASS	0.557	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		10	186	10	186	---	---	---	---
MOV10L1	54456	broad.mit.edu	37	22	50552829	50552829	+	Nonsense_Mutation	SNP	C	C	T			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr22:50552829C>T	ENST00000262794.5	+	7	987	c.904C>T	c.(904-906)Caa>Taa	p.Q302*	MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000540615.1_Nonsense_Mutation_p.Q282*|MOV10L1_ENST00000545383.1_Nonsense_Mutation_p.Q302*|MOV10L1_ENST00000395858.3_Nonsense_Mutation_p.Q302*	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	302					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)	p.Q302*(1)|p.Q282*(1)		breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		AGACATTCCTCAAAACTTAGT	0.358																																						uc003bjj.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(2)|skin(1)	3						c.(904-906)CAA>TAA		MOV10-like 1 isoform 1							58.0	59.0	59.0					22																	50552829		2203	4300	6503	SO:0001587	stop_gained	54456				germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding	g.chr22:50552829C>T	AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"""cardiac helicase activated by MEF2C protein"""	605794	"""Mov10 (mouse)-like 1"", ""Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"""			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.904C>T	22.37:g.50552829C>T	ENSP00000262794:p.Gln302*					MOV10L1_uc003bjk.3_Nonsense_Mutation_p.Q302*|MOV10L1_uc011arp.1_Nonsense_Mutation_p.Q282*|MOV10L1_uc011arq.1_Nonsense_Mutation_p.Q63*|MOV10L1_uc010hao.1_RNA	p.Q302*	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)	7	987	+		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)	302					A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Nonsense_Mutation	SNP	ENST00000262794.5	37	c.904C>T	CCDS14084.1	.	.	.	.	.	.	.	.	.	.	C	41	9.156991	0.99084	.	.	ENSG00000073146	ENST00000545383;ENST00000262794;ENST00000395858;ENST00000540615	.	.	.	6.04	6.04	0.98038	.	0.172900	0.56097	D	0.000036	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-23.4319	19.3663	0.94464	0.0:1.0:0.0:0.0	.	.	.	.	X	302;302;302;282	.	ENSP00000262794:Q302X	Q	+	1	0	MOV10L1	48894956	0.994000	0.37717	0.573000	0.28510	0.995000	0.86356	5.549000	0.67261	2.873000	0.98535	0.563000	0.77884	CAA		PASS	0.358	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2	NM_018995		61	145	61	145	---	---	---	---
PANX2	56666	broad.mit.edu	37	22	50609369	50609369	+	Silent	SNP	C	C	T			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr22:50609369C>T	ENST00000395842.2	+	1	210	c.210C>T	c.(208-210)ttC>ttT	p.F70F	PANX2_ENST00000159647.5_Silent_p.F70F	NM_052839.3	NP_443071.2	Q96RD6	PANX2_HUMAN	pannexin 2	70					ion transport (GO:0006811)|protein hexamerization (GO:0034214)|response to ischemia (GO:0002931)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction hemi-channel activity (GO:0055077)	p.F60F(1)|p.F70F(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		CCCTGGTCTTCACCAAGAACT	0.726																																						uc003bjn.3																			2	Substitution - coding silent(2)		lung(2)	breast(1)	1						c.(208-210)TTC>TTT		pannexin 2 isoform 1							8.0	8.0	8.0					22																	50609369		2157	4246	6403	SO:0001819	synonymous_variant	56666				protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity	g.chr22:50609369C>T		CCDS14085.2, CCDS54544.1	22q13.33	2011-12-05			ENSG00000073150	ENSG00000073150		"""Ion channels / Pannexins"""	8600	protein-coding gene	gene with protein product		608421				14702039, 14597722	Standard	NM_052839		Approved	hPANX2, PX2	uc003bjn.4	Q96RD6	OTTHUMG00000044649	ENST00000395842.2:c.210C>T	22.37:g.50609369C>T						PANX2_uc003bjp.3_5'UTR|PANX2_uc003bjo.3_Silent_p.F70F	p.F70F	NM_052839	NP_443071	Q96RD6	PANX2_HUMAN		LUAD - Lung adenocarcinoma(64;0.105)	1	210	+		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)	70			Helical; (Potential).		B7Z684|Q96RD5|Q9UGX8	Silent	SNP	ENST00000395842.2	37	c.210C>T	CCDS14085.2																																																																																				PASS	0.726	PANX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075010.3	NM_052839		9	20	9	20	---	---	---	---
PLCXD1	55344	broad.mit.edu	37	X	215978	215978	+	Silent	SNP	C	C	G			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chrX:215978C>G	ENST00000381657.2	+	7	1462	c.948C>G	c.(946-948)ctC>ctG	p.L316L	PLCXD1_ENST00000399012.1_Silent_p.L316L|PLCXD1_ENST00000381663.3_Silent_p.L316L	NM_018390.3	NP_060860.1	Q9NUJ7	PLCX1_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 1	316					lipid metabolic process (GO:0006629)		phosphoric diester hydrolase activity (GO:0008081)	p.L316L(1)		endometrium(3)|large_intestine(1)|lung(7)	11		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)				TCATCGCGCTCAATCAGAAGC	0.607																																						uc004cpc.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(946-948)CTC>CTG		phosphatidylinositol-specific phospholipase C, X							84.0	74.0	78.0					X																	215978		2203	4296	6499	SO:0001819	synonymous_variant	55344				intracellular signal transduction|lipid metabolic process		phospholipase C activity	g.chrX:215978C>G	AK002185	CCDS14103.1	Xp22.33 and Yp11.32	2010-07-28			ENSG00000182378	ENSG00000182378		"""Pseudoautosomal regions / PAR1"""	23148	protein-coding gene	gene with protein product							Standard	NM_018390		Approved	FLJ11323	uc004cpc.3	Q9NUJ7	OTTHUMG00000022693	ENST00000381657.2:c.948C>G	X.37:g.215978C>G						PLCXD1_uc011mgx.1_RNA	p.L316L	NM_018390	NP_060860	Q9NUJ7	PLCX1_HUMAN			7	1260	+		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)	316					A2BH51|A2BH52	Silent	SNP	ENST00000381657.2	37	c.948C>G	CCDS14103.1																																																																																				PASS	0.607	PLCXD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058879.2	NM_018390		33	102	33	102	---	---	---	---
GPR143	4935	broad.mit.edu	37	X	9728766	9728766	+	Silent	SNP	C	C	A			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chrX:9728766C>A	ENST00000467482.1	-	2	497	c.351G>T	c.(349-351)gtG>gtT	p.V117V	GPR143_ENST00000380929.2_Silent_p.V137V			P51810	GP143_HUMAN	G protein-coupled receptor 143	117					calcium-mediated signaling using intracellular calcium source (GO:0035584)|eye pigment biosynthetic process (GO:0006726)|G-protein coupled receptor signaling pathway (GO:0007186)|melanosome localization (GO:0032400)|melanosome organization (GO:0032438)|melanosome transport (GO:0032402)|neuropeptide signaling pathway (GO:0007218)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of calcium-mediated signaling (GO:0050848)|signal transduction (GO:0007165)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|melanosome membrane (GO:0033162)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|G-protein coupled receptor activity (GO:0004930)|L-DOPA binding (GO:0072544)|L-DOPA receptor activity (GO:0035643)|tyrosine binding (GO:0072545)	p.V137V(1)		endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Hepatocellular(5;0.000888)				CCGCACTCCCCACGCAGAAAG	0.537																																						uc004cst.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(409-411)GTG>GTT		G protein-coupled receptor 143							84.0	61.0	69.0					X																	9728766		2201	4299	6500	SO:0001819	synonymous_variant	4935				calcium-mediated signaling using intracellular calcium source|eye pigment biosynthetic process|melanosome organization|melanosome transport|phosphatidylinositol-mediated signaling|regulation of calcium-mediated signaling|visual perception	apical plasma membrane|Golgi apparatus|integral to membrane|lysosomal membrane|melanosome membrane|membrane fraction	dopamine binding|L-DOPA receptor activity|protein binding|tyrosine binding	g.chrX:9728766C>A	Z48804	CCDS14134.1, CCDS14134.2	Xp22.3	2013-09-27	2003-12-01		ENSG00000101850	ENSG00000101850		"""GPCR / Unclassified : 7TM orphan receptors"""	20145	protein-coding gene	gene with protein product	"""ocular albinism 1"""	300808	"""ocular albinism 1 (Nettleship-Falls)"""	OA1		7647783, 10471510	Standard	NM_000273		Approved		uc004cst.2	P51810	OTTHUMG00000021118	ENST00000467482.1:c.351G>T	X.37:g.9728766C>A							p.V137V	NM_000273	NP_000264	P51810	GP143_HUMAN			2	411	-		Hepatocellular(5;0.000888)	117			Extracellular (Potential).		Q6NTI7	Silent	SNP	ENST00000467482.1	37	c.411G>T	CCDS14134.2	.	.	.	.	.	.	.	.	.	.	C	7.422	0.636873	0.14386	.	.	ENSG00000101850	ENST00000447366	.	.	.	4.47	0.928	0.19443	.	.	.	.	.	T	0.40247	0.1109	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.22906	-1.0203	4	.	.	.	-20.7928	0.5269	0.00621	0.4032:0.2237:0.1955:0.1776	.	.	.	.	W	53	.	.	G	-	1	0	GPR143	9688766	0.968000	0.33430	0.976000	0.42696	0.721000	0.41392	-0.208000	0.09371	0.174000	0.19809	0.466000	0.42574	GGG		PASS	0.537	GPR143-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055714.2	NM_000273		16	16	16	16	---	---	---	---
ZNF645	158506	broad.mit.edu	37	X	22292376	22292376	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chrX:22292376G>C	ENST00000323684.1	+	1	1312	c.1268G>C	c.(1267-1269)aGa>aCa	p.R423T		NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	423					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.R423T(1)		cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						AGAAGACATAGACGGTATTAA	0.463																																						uc004dai.1																			1	Substitution - Missense(1)		lung(1)	lung(1)|pancreas(1)	2						c.(1267-1269)AGA>ACA		zinc finger protein 645							87.0	68.0	75.0					X																	22292376		2203	4300	6503	SO:0001583	missense	158506					intracellular	zinc ion binding	g.chrX:22292376G>C	AK098601	CCDS14205.1	Xp22.11	2014-01-21			ENSG00000175809	ENSG00000175809			26371	protein-coding gene	gene with protein product							Standard	NM_152577		Approved	FLJ25735, HAKAIL, CT138	uc004dai.2	Q8N7E2	OTTHUMG00000021242	ENST00000323684.1:c.1268G>C	X.37:g.22292376G>C	ENSP00000323348:p.Arg423Thr						p.R423T	NM_152577	NP_689790	Q8N7E2	ZN645_HUMAN			1	1317	+			423					A0AV29|A0AV31|E3SBK4|Q6DJY9	Missense_Mutation	SNP	ENST00000323684.1	37	c.1268G>C	CCDS14205.1	.	.	.	.	.	.	.	.	.	.	G	11.78	1.739253	0.30774	.	.	ENSG00000175809	ENST00000323684	T	0.54279	0.58	2.6	2.6	0.31112	.	0.059467	0.64402	U	0.000004	T	0.57784	0.2077	L	0.34521	1.04	0.09310	N	0.999994	D	0.89917	1.0	D	0.74674	0.984	T	0.46610	-0.9179	10	0.87932	D	0	.	10.4463	0.44497	0.0:0.0:1.0:0.0	.	423	Q8N7E2	ZN645_HUMAN	T	423	ENSP00000323348:R423T	ENSP00000323348:R423T	R	+	2	0	ZNF645	22202297	0.996000	0.38824	0.003000	0.11579	0.002000	0.02628	2.472000	0.45136	1.572000	0.49736	0.600000	0.82982	AGA		PASS	0.463	ZNF645-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056037.1	NM_152577		58	42	58	42	---	---	---	---
STARD8	9754	broad.mit.edu	37	X	67943851	67943851	+	Missense_Mutation	SNP	C	C	A	rs150722287		TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chrX:67943851C>A	ENST00000252336.6	+	13	3214	c.2842C>A	c.(2842-2844)Caa>Aaa	p.Q948K	STARD8_ENST00000374599.3_Missense_Mutation_p.Q1028K|STARD8_ENST00000374597.3_Missense_Mutation_p.Q948K	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	948	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)	p.Q948K(2)|p.Q1028K(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						GGATCCGGAACAACCTGTGCC	0.612																																						uc004dxa.2																			3	Substitution - Missense(3)		lung(3)	breast(3)|ovary(2)|pancreas(1)	6						c.(2842-2844)CAA>AAA		StAR-related lipid transfer (START) domain							129.0	84.0	99.0					X																	67943851		2203	4300	6503	SO:0001583	missense	9754				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity	g.chrX:67943851C>A	D80011	CCDS14390.1, CCDS48134.1	Xq13.1	2011-09-13	2007-08-16		ENSG00000130052	ENSG00000130052		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19161	protein-coding gene	gene with protein product		300689	"""START domain containing 8"""			8724849	Standard	NM_001142504		Approved	KIAA0189, ARHGAP38	uc004dxb.3	Q92502	OTTHUMG00000021748	ENST00000252336.6:c.2842C>A	X.37:g.67943851C>A	ENSP00000252336:p.Gln948Lys					STARD8_uc004dxb.2_Missense_Mutation_p.Q1028K|STARD8_uc004dxc.3_Missense_Mutation_p.Q948K	p.Q948K	NM_014725	NP_055540	Q92502	STAR8_HUMAN			13	3214	+			948			START.		A8K6T2|D3DVT9|Q5JST0|Q68DG7	Missense_Mutation	SNP	ENST00000252336.6	37	c.2842C>A	CCDS14390.1	.	.	.	.	.	.	.	.	.	.	C	5.763	0.325145	0.10900	.	.	ENSG00000130052	ENST00000252336;ENST00000374599;ENST00000374597	T;T;T	0.79845	-1.31;-1.31;-1.31	4.52	3.62	0.41486	Lipid-binding START (3);START-like domain (1);	0.382752	0.22262	N	0.062388	T	0.55273	0.1910	N	0.01576	-0.805	0.27779	N	0.943238	B;B	0.15141	0.009;0.012	B;B	0.24701	0.032;0.055	T	0.48198	-0.9056	10	0.20519	T	0.43	.	11.2841	0.49212	0.0:0.8005:0.1995:0.0	.	1028;948	Q92502-2;Q92502	.;STAR8_HUMAN	K	948;1028;948	ENSP00000252336:Q948K;ENSP00000363727:Q1028K;ENSP00000363725:Q948K	ENSP00000252336:Q948K	Q	+	1	0	STARD8	67860576	0.992000	0.36948	0.230000	0.23976	0.128000	0.20619	2.316000	0.43761	2.108000	0.64289	0.594000	0.82650	CAA		PASS	0.612	STARD8-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057026.2	NM_014725		78	50	78	50	---	---	---	---
RLIM	51132	broad.mit.edu	37	X	73811938	73811938	+	Silent	SNP	G	G	C	rs61754468		TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chrX:73811938G>C	ENST00000332687.6	-	4	1430	c.1212C>G	c.(1210-1212)acC>acG	p.T404T	RLIM_ENST00000349225.2_Silent_p.T404T	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	404					negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T404T(6)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCCTTAACATGGTCTGAATTG	0.413																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)	uc004ebu.2																			6	Substitution - coding silent(6)		lung(3)|urinary_tract(1)|kidney(1)|endometrium(1)	ovary(2)	2						c.(1210-1212)ACC>ACG		ring finger protein, LIM domain interacting							102.0	92.0	95.0					X																	73811938		2203	4300	6503	SO:0001819	synonymous_variant	51132				random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chrX:73811938G>C	AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"""RING-type (C3HC4) zinc fingers"""	13429	protein-coding gene	gene with protein product	"""ring zinc finger protein NY-REN-43antigen"", ""LIM domain interacting ring finger protein"""	300379	"""ring finger protein 12"""	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.1212C>G	X.37:g.73811938G>C						RLIM_uc004ebw.2_Silent_p.T404T	p.T404T	NM_183353	NP_899196	Q9NVW2	RNF12_HUMAN			5	1502	-			404					B2RBQ1|D3DTE0|Q96D38|Q9Y598	Silent	SNP	ENST00000332687.6	37	c.1212C>G	CCDS14427.1																																																																																				PASS	0.413	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057268.1	NM_016120		7	172	7	172	---	---	---	---
POU3F4	5456	broad.mit.edu	37	X	82763523	82763523	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chrX:82763523G>C	ENST00000373200.2	+	1	255	c.191G>C	c.(190-192)gGg>gCg	p.G64A	RP3-326L13.3_ENST00000607789.1_lincRNA|RP3-326L13.2_ENST00000607095.1_RNA	NM_000307.3	NP_000298	P49335	PO3F4_HUMAN	POU class 3 homeobox 4	64					cochlea morphogenesis (GO:0090103)|forebrain neuron differentiation (GO:0021879)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|sensory perception of sound (GO:0007605)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	AT DNA binding (GO:0003680)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G64A(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						CTGAGCGACGGGGGCCCATGG	0.622																																						uc004eeg.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(190-192)GGG>GCG		POU domain, class 3, transcription factor 4							23.0	20.0	21.0					X																	82763523		2203	4297	6500	SO:0001583	missense	5456				sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity	g.chrX:82763523G>C	X82324	CCDS14450.1	Xq21.1	2011-06-20	2007-07-13		ENSG00000196767	ENSG00000196767		"""Homeoboxes / POU class"""	9217	protein-coding gene	gene with protein product	"""brain-4"""	300039	"""POU domain class 3, transcription factor 4"""	DFN3		7911044, 7581392	Standard	NM_000307		Approved	BRN4, OTF9, DFNX2	uc004eeg.2	P49335	OTTHUMG00000021919	ENST00000373200.2:c.191G>C	X.37:g.82763523G>C	ENSP00000362296:p.Gly64Ala						p.G64A	NM_000307	NP_000298	P49335	PO3F4_HUMAN			1	255	+			64					B2RC71|Q5H9G9|Q99410	Missense_Mutation	SNP	ENST00000373200.2	37	c.191G>C	CCDS14450.1	.	.	.	.	.	.	.	.	.	.	G	2.225	-0.377596	0.05000	.	.	ENSG00000196767	ENST00000373200	D	0.85773	-2.03	4.85	4.85	0.62838	.	0.144353	0.44688	D	0.000428	T	0.73102	0.3544	N	0.17082	0.46	0.37999	D	0.93417	B	0.06786	0.001	B	0.08055	0.003	T	0.70324	-0.4903	10	0.30854	T	0.27	.	11.3439	0.49548	0.0:0.3137:0.6863:0.0	.	64	P49335	PO3F4_HUMAN	A	64	ENSP00000362296:G64A	ENSP00000362296:G64A	G	+	2	0	POU3F4	82650179	1.000000	0.71417	0.913000	0.36048	0.116000	0.19942	4.579000	0.60936	2.134000	0.65973	0.525000	0.51046	GGG		PASS	0.622	POU3F4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057368.2	NM_000307		4	17	4	17	---	---	---	---
CXorf57	55086	broad.mit.edu	37	X	105855548	105855548	+	Nonsense_Mutation	SNP	G	G	T			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chrX:105855548G>T	ENST00000372548.4	+	1	347	c.238G>T	c.(238-240)Gag>Tag	p.E80*	CXorf57_ENST00000372544.2_Nonsense_Mutation_p.E80*	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	80							poly(A) RNA binding (GO:0044822)	p.E80*(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						GTACCTGTTAGAGGATGAGCC	0.567																																						uc004emi.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|lung(1)|breast(1)	3						c.(238-240)GAG>TAG		hypothetical protein LOC55086							99.0	86.0	91.0					X																	105855548		2203	4300	6503	SO:0001587	stop_gained	55086							g.chrX:105855548G>T	AK024253	CCDS14519.1, CCDS55470.1	Xq22.3	2008-02-05			ENSG00000147231	ENSG00000147231			25486	protein-coding gene	gene with protein product							Standard	NM_018015		Approved	FLJ14191, FLJ10178	uc004emi.4	Q6NSI4	OTTHUMG00000022150	ENST00000372548.4:c.238G>T	X.37:g.105855548G>T	ENSP00000361628:p.Glu80*					CXorf57_uc004emj.3_Nonsense_Mutation_p.E80*|CXorf57_uc004emh.2_Nonsense_Mutation_p.E80*	p.E80*	NM_018015	NP_060485	Q6NSI4	CX057_HUMAN			1	389	+			80					H7BY89|Q4G0L7|Q5JQS1|Q5JRF9|Q6PHY5|Q6PII9|Q6PJU8|Q9H7W5|Q9NWA6	Nonsense_Mutation	SNP	ENST00000372548.4	37	c.238G>T	CCDS14519.1	.	.	.	.	.	.	.	.	.	.	G	37	6.188432	0.97362	.	.	ENSG00000147231	ENST00000372544;ENST00000372548	.	.	.	3.27	3.27	0.37495	.	0.299349	0.27811	N	0.017745	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	-15.3137	9.127	0.36821	0.0:0.0:1.0:0.0	.	.	.	.	X	80	.	ENSP00000361623:E80X	E	+	1	0	CXorf57	105742204	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	4.195000	0.58400	1.889000	0.54706	0.600000	0.82982	GAG		PASS	0.567	CXorf57-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057800.2	NM_018015		5	238	5	238	---	---	---	---
CAPN6	827	broad.mit.edu	37	X	110491097	110491097	+	Splice_Site	SNP	A	A	G			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chrX:110491097A>G	ENST00000324068.1	-	11	1774		c.e11+1		CAPN6_ENST00000541758.1_Splice_Site	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6						microtubule bundle formation (GO:0001578)|proteolysis (GO:0006508)|regulation of cytoskeleton organization (GO:0051493)	perinuclear region of cytoplasm (GO:0048471)|spindle microtubule (GO:0005876)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|microtubule binding (GO:0008017)	p.?(1)		cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						TGCCATTCTTACTTTCATTGG	0.413																																						uc004epc.1																			1	Unknown(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|skin(1)	6						c.e11+1		calpain 6							125.0	103.0	110.0					X																	110491097		2203	4300	6503	SO:0001630	splice_region_variant	827				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding	g.chrX:110491097A>G	AF029232	CCDS14555.1	Xq23	2008-07-29			ENSG00000077274	ENSG00000077274			1483	protein-coding gene	gene with protein product		300146				9503024, 9339374	Standard	NM_014289		Approved	CAPNX, CalpM, CANPX	uc004epc.2	Q9Y6Q1	OTTHUMG00000022203	ENST00000324068.1:c.1606+1T>C	X.37:g.110491097A>G						CAPN6_uc011msu.1_Splice_Site_p.T281_splice	p.T536_splice	NM_014289	NP_055104	Q9Y6Q1	CAN6_HUMAN			11	1774	-								D3DUY7|Q9UEQ1|Q9UJA8	Splice_Site	SNP	ENST00000324068.1	37	c.1606_splice	CCDS14555.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.063890	0.76187	.	.	ENSG00000077274	ENST00000324068;ENST00000541758	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.5021	0.55962	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CAPN6	110377753	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.870000	0.87175	1.928000	0.55862	0.486000	0.48141	.		PASS	0.413	CAPN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057922.1		Intron	10	207	10	207	---	---	---	---
GLUD2	2747	broad.mit.edu	37	X	120181839	120181839	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chrX:120181839C>T	ENST00000328078.1	+	1	378	c.301C>T	c.(301-303)Cgg>Tgg	p.R101W		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	101					glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamate metabolic process (GO:0006536)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	ADP binding (GO:0043531)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|leucine binding (GO:0070728)	p.R101W(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38						GAAGCGGAACCGGGTGCGCGG	0.627																																						uc004eto.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(301-303)CGG>TGG		glutamate dehydrogenase 2 precursor	L-Glutamic Acid(DB00142)|NADH(DB00157)						95.0	70.0	79.0					X																	120181839		2203	4300	6503	SO:0001583	missense	2747				glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding	g.chrX:120181839C>T	U08997	CCDS14603.1	Xq24-q25	2008-02-05	2003-02-24	2003-02-28	ENSG00000182890	ENSG00000182890			4336	protein-coding gene	gene with protein product		300144	"""glutamate dehydrogenase pseudogene 1"""	GLUDP1		8207021, 9109504	Standard	NM_012084		Approved		uc004eto.3	P49448	OTTHUMG00000022320	ENST00000328078.1:c.301C>T	X.37:g.120181839C>T	ENSP00000327589:p.Arg101Trp						p.R101W	NM_012084	NP_036216	P49448	DHE4_HUMAN			1	378	+			101					B2R8G0|Q9UDQ4	Missense_Mutation	SNP	ENST00000328078.1	37	c.301C>T	CCDS14603.1	.	.	.	.	.	.	.	.	.	.	C	18.41	3.617446	0.66787	.	.	ENSG00000182890	ENST00000328078	D	0.96802	-4.13	1.44	0.494	0.16884	.	0.000000	0.85682	D	0.000000	D	0.95082	0.8407	L	0.46157	1.445	0.51012	D	0.999909	D	0.89917	1.0	P	0.56612	0.802	D	0.92330	0.5873	10	0.62326	D	0.03	.	7.1493	0.25601	0.0:0.722:0.278:0.0	.	101	P49448	DHE4_HUMAN	W	101	ENSP00000327589:R101W	ENSP00000327589:R101W	R	+	1	2	GLUD2	120009520	1.000000	0.71417	0.001000	0.08648	0.185000	0.23345	2.485000	0.45250	0.116000	0.18110	0.472000	0.43445	CGG		PASS	0.627	GLUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058133.1	NM_012084		13	150	13	150	---	---	---	---
MAGEC3	139081	broad.mit.edu	37	X	140969321	140969321	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chrX:140969321C>A	ENST00000298296.1	+	4	648	c.648C>A	c.(646-648)aaC>aaA	p.N216K	MAGEC3_ENST00000448920.1_Intron|MAGEC3_ENST00000536088.1_Intron|MAGEC3_ENST00000443323.2_Intron	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	216	MAGE 1. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.N216K(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					ATGTCATCAACACATACACGG	0.448																																						uc011mwp.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|central_nervous_system(1)	3						c.(646-648)AAC>AAA		melanoma antigen family C, 3 isoform 1							168.0	150.0	156.0					X																	140969321		2203	4300	6503	SO:0001583	missense	139081							g.chrX:140969321C>A	AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 2"""	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.648C>A	X.37:g.140969321C>A	ENSP00000298296:p.Asn216Lys						p.N216K	NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN			4	648	+	Acute lymphoblastic leukemia(192;6.56e-05)		216			MAGE 1.		Q3SYA7|Q5JZ43|Q9BZ80	Missense_Mutation	SNP	ENST00000298296.1	37	c.648C>A	CCDS14676.1	.	.	.	.	.	.	.	.	.	.	C	0.093	-1.164102	0.01673	.	.	ENSG00000165509	ENST00000298296	T	0.04049	3.72	2.04	-3.31	0.04988	.	.	.	.	.	T	0.01061	0.0035	N	0.00864	-1.135	0.09310	N	1	B	0.13145	0.007	B	0.08055	0.003	T	0.42916	-0.9423	9	0.02654	T	1	.	3.307	0.07003	0.3635:0.2775:0.3591:0.0	.	216	Q8TD91	MAGC3_HUMAN	K	216	ENSP00000298296:N216K	ENSP00000298296:N216K	N	+	3	2	MAGEC3	140796987	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.655000	0.05348	-0.744000	0.04778	-0.372000	0.07161	AAC		PASS	0.448	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058606.1	NM_138702		6	277	6	277	---	---	---	---
MIR891B	100126304	broad.mit.edu	37	X	145082638	145082638	+	RNA	SNP	C	C	A			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chrX:145082638C>A	ENST00000401245.1	-	0	11					NR_030590.1				microRNA 891b																		AGGTAAGTTGCAAGGATTAAG	0.348																																						hsa-mir-891b|MI0005534																			0					0															156.0	121.0	131.0					X																	145082638		1568	3582	5150			100126304							g.chrX:145082638C>A			Xq27.3	2011-09-12		2008-12-18	ENSG00000216064	ENSG00000216064		"""ncRNAs / Micro RNAs"""	33645	non-coding RNA	RNA, micro				MIRN891B			Standard	NR_030590		Approved	hsa-mir-891b	uc022cfs.1				X.37:g.145082638C>A																-									RNA	SNP	ENST00000401245.1	37	c.12C>A																																																																																					PASS	0.348	MIR891B-201	KNOWN	basic	miRNA	miRNA		NR_030590		58	42	58	42	---	---	---	---
GABRQ	55879	broad.mit.edu	37	X	151821068	151821068	+	Missense_Mutation	SNP	T	T	A			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chrX:151821068T>A	ENST00000370306.2	+	9	1243	c.1223T>A	c.(1222-1224)cTg>cAg	p.L408Q		NM_018558.2	NP_061028.3	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	408					neurotransmitter transport (GO:0006836)|signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|neurotransmitter transporter activity (GO:0005326)|transmembrane signaling receptor activity (GO:0004888)	p.L408Q(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CAGGCCCCCCTGGCAAGCCCG	0.592																																						uc004ffp.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(1222-1224)CTG>CAG		gamma-aminobutyric acid (GABA) receptor, theta							62.0	60.0	61.0					X																	151821068		2203	4300	6503	SO:0001583	missense	55879					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity	g.chrX:151821068T>A	U47334	CCDS14707.1	Xq28	2012-06-22	2012-02-03		ENSG00000147402	ENSG00000268089		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	14454	protein-coding gene	gene with protein product	"""GABA(A) receptor, theta"""	300349	"""gamma-aminobutyric acid (GABA) receptor, theta"""			10804200, 10449790	Standard	NM_018558		Approved	THETA	uc004ffp.1	Q9UN88	OTTHUMG00000022649	ENST00000370306.2:c.1223T>A	X.37:g.151821068T>A	ENSP00000359329:p.Leu408Gln						p.L408Q	NM_018558	NP_061028	Q9UN88	GBRT_HUMAN			9	1243	+	Acute lymphoblastic leukemia(192;6.56e-05)		408					A6NFN1|Q32MB4|Q9NZK8	Missense_Mutation	SNP	ENST00000370306.2	37	c.1223T>A	CCDS14707.1	.	.	.	.	.	.	.	.	.	.	T	16.31	3.087027	0.55861	.	.	ENSG00000147402	ENST00000370306	D	0.85861	-2.04	4.59	2.11	0.27256	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.446692	0.14163	N	0.337250	D	0.86243	0.5886	L	0.48642	1.525	0.19775	N	0.999952	D	0.69078	0.997	D	0.71184	0.972	T	0.73369	-0.4004	10	0.40728	T	0.16	.	3.8754	0.09054	0.0:0.1134:0.2149:0.6717	.	408	Q9UN88	GBRT_HUMAN	Q	408	ENSP00000359329:L408Q	ENSP00000359329:L408Q	L	+	2	0	GABRQ	151571724	0.913000	0.31002	0.307000	0.25127	0.960000	0.62799	1.044000	0.30329	0.311000	0.23014	0.486000	0.48141	CTG		PASS	0.592	GABRQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058763.2	NM_018558		75	51	75	51	---	---	---	---
MAGEA6	4105	broad.mit.edu	37	X	151870031	151870031	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chrX:151870031G>T	ENST00000329342.5	+	3	946	c.721G>T	c.(721-723)Gat>Tat	p.D241Y		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	241	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.D241Y(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					TATCTTCGGGGATCCCAAGAA	0.542																																						uc004ffq.1																			1	Substitution - Missense(1)		lung(1)		0						c.(721-723)GAT>TAT		melanoma antigen family A, 6							155.0	150.0	152.0					X																	151870031		2202	4300	6502	SO:0001583	missense	4105						protein binding	g.chrX:151870031G>T		CCDS76050.1	Xq28	2009-03-13			ENSG00000197172	ENSG00000197172			6804	protein-coding gene	gene with protein product	"""MAGE-6 antigen"", ""melanoma-associated antigen 6"", ""melanoma antigen family A 6"", ""cancer/testis antigen family 1, member 6"""	300176		MAGE6		8575766	Standard	NM_005363		Approved	CT1.6	uc004ffq.1	P43360	OTTHUMG00000022642	ENST00000329342.5:c.721G>T	X.37:g.151870031G>T	ENSP00000329199:p.Asp241Tyr					MAGEA6_uc004ffr.1_Missense_Mutation_p.D241Y|MAGEA2_uc010nto.2_Intron	p.D241Y	NM_005363	NP_005354	P43360	MAGA6_HUMAN			3	915	+	Acute lymphoblastic leukemia(192;6.56e-05)		241			MAGE.		A8IF93|Q6NW44	Missense_Mutation	SNP	ENST00000329342.5	37	c.721G>T	CCDS14708.1	.	.	.	.	.	.	.	.	.	.	g	10.60	1.395592	0.25205	.	.	ENSG00000197172	ENST00000329342	T	0.05649	3.41	0.605	0.605	0.17553	.	.	.	.	.	T	0.15089	0.0364	L	0.55213	1.73	0.09310	N	1	P	0.36753	0.568	P	0.54401	0.751	T	0.23547	-1.0185	8	0.87932	D	0	.	.	.	.	.	241	P43360	MAGA6_HUMAN	Y	241	ENSP00000329199:D241Y	ENSP00000329199:D241Y	D	+	1	0	MAGEA6	151620687	0.005000	0.15991	0.006000	0.13384	0.009000	0.06853	0.502000	0.22594	0.573000	0.29400	0.181000	0.17075	GAT		PASS	0.542	MAGEA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058747.2	NM_005363		239	192	239	192	---	---	---	---
DUSP9	1852	broad.mit.edu	37	X	152915069	152915069	+	Nonsense_Mutation	SNP	C	C	A			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chrX:152915069C>A	ENST00000342782.3	+	3	1021	c.756C>A	c.(754-756)taC>taA	p.Y252*	DUSP9_ENST00000370167.4_Nonsense_Mutation_p.Y252*			Q99956	DUS9_HUMAN	dual specificity phosphatase 9	252	Tyrosine-protein phosphatase.				inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.Y252*(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACTTTCACTACAAGCAGATCC	0.557																																						uc004fhx.3																			2	Substitution - Nonsense(2)		lung(2)	ovary(2)	2						c.(754-756)TAC>TAA		dual specificity phosphatase 9							105.0	108.0	107.0					X																	152915069		2203	4300	6503	SO:0001587	stop_gained	1852				inactivation of MAPK activity|JNK cascade	cytosol|endoplasmic reticulum|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chrX:152915069C>A	Y08302	CCDS14724.1	Xq28	2011-06-09			ENSG00000130829	ENSG00000130829		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3076	protein-coding gene	gene with protein product	"""map kinase phosphatase 4"""	300134				9030581, 9286695	Standard	NM_001395		Approved	MKP-4, MKP4	uc004fhx.4	Q99956	OTTHUMG00000024211	ENST00000342782.3:c.756C>A	X.37:g.152915069C>A	ENSP00000345853:p.Tyr252*					DUSP9_uc004fhy.3_Nonsense_Mutation_p.Y252*	p.Y252*	NM_001395	NP_001386	Q99956	DUS9_HUMAN			3	960	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		252			Tyrosine-protein phosphatase.		D3DWU5	Nonsense_Mutation	SNP	ENST00000342782.3	37	c.756C>A	CCDS14724.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	38|38	6.674221|6.674221	0.97751|0.97751	.|.	.|.	ENSG00000130829|ENSG00000130829	ENST00000433144|ENST00000370167;ENST00000342782	.|.	.|.	.|.	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	.|0.000000	.|0.64402	.|D	.|0.000006	T|.	0.44030|.	0.1274|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.41858|.	-0.9485|.	3|.	.|0.02654	.|T	.|1	.|.	16.9399|16.9399	0.86215|0.86215	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	K|X	223|252	.|.	.|ENSP00000345853:Y252X	T|Y	+|+	2|3	0|2	DUSP9|DUSP9	152568263|152568263	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.671000|7.671000	0.83941|0.83941	2.262000|2.262000	0.75019|0.75019	0.529000|0.529000	0.55759|0.55759	ACA|TAC		PASS	0.557	DUSP9-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061022.3	NM_001395		8	388	8	388	---	---	---	---
F8	2157	broad.mit.edu	37	X	154157066	154157066	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chrX:154157066G>A	ENST00000360256.4	-	14	5199	c.4999C>T	c.(4999-5001)Cgg>Tgg	p.R1667W		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1667	B.	Cleavage (activation).			acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)	p.R1667W(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GTTATTTCCCGTTGATGGCGT	0.413																																						uc004fmt.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11	GRCh37	CD034859	F8	D		c.(4999-5001)CGG>TGG		coagulation factor VIII isoform a precursor	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						146.0	122.0	130.0					X																	154157066		2203	4300	6503	SO:0001583	missense	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154157066G>A	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.4999C>T	X.37:g.154157066G>A	ENSP00000353393:p.Arg1667Trp						p.R1667W	NM_000132	NP_000123	P00451	FA8_HUMAN			14	5170	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		1667			B.	Cleavage (activation).	Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	c.4999C>T	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	g	11.73	1.726049	0.30593	.	.	ENSG00000185010	ENST00000360256	D	0.99369	-5.78	5.15	1.22	0.21188	.	0.380726	0.25613	N	0.029477	D	0.98204	0.9406	M	0.66939	2.045	0.09310	N	0.999998	D	0.76494	0.999	P	0.50490	0.642	D	0.95325	0.8424	10	0.87932	D	0	-14.1277	4.8362	0.13466	0.0:0.1028:0.373:0.5241	.	1667	P00451	FA8_HUMAN	W	1667	ENSP00000353393:R1667W	ENSP00000353393:R1667W	R	-	1	2	F8	153810260	0.103000	0.21917	0.027000	0.17364	0.151000	0.21798	0.448000	0.21726	0.620000	0.30215	-0.510000	0.04470	CGG		PASS	0.413	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			32	128	32	128	---	---	---	---
KCNJ3	3760	broad.mit.edu	37	2	155711609	155711609	+	Frame_Shift_Del	DEL	G	G	-			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr2:155711609delG	ENST00000295101.2	+	3	1767	c.1290delG	c.(1288-1290)ttgfs	p.L430fs		NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	KCNJ3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	430					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.L430F(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)	CCTACAGCTTGGGAGACTTGC	0.403																																						uc002tyv.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|pancreas(1)	2						c.(1288-1290)TTGfs		potassium inwardly-rectifying channel J3	Halothane(DB01159)						66.0	74.0	71.0					2																	155711609		2201	4298	6499	SO:0001589	frameshift_variant	3760				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr2:155711609delG	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.1290delG	2.37:g.155711609delG	ENSP00000295101:p.Leu430fs					KCNJ3_uc010zce.1_3'UTR	p.L430fs	NM_002239	NP_002230	P48549	IRK3_HUMAN			3	1485	+			430			Cytoplasmic (By similarity).		B4DEW7|Q8TBI0	Frame_Shift_Del	DEL	ENST00000295101.2	37	c.1290delG	CCDS2200.1																																																																																					0.403	KCNJ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254890.2	NM_002239		102	60	102	60	---	---	---	---
KIAA1211	57482	broad.mit.edu	37	4	57180576	57180577	+	In_Frame_Ins	INS	-	-	GGAGCGGAGGGAGCGGAG	rs71921617|rs138358443|rs11276076	byFrequency	TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr4:57180576_57180577insGGAGCGGAGGGAGCGGAG	ENST00000504228.1	+	6	1013_1014	c.908_909insGGAGCGGAGGGAGCGGAG	c.(907-912)gcggag>gcGGAGCGGAGGGAGCGGAGggag	p.304_305insRRERRE	KIAA1211_ENST00000541073.1_In_Frame_Ins_p.297_298insRRERRE|KIAA1211_ENST00000264229.6_In_Frame_Ins_p.304_305insRRERRE			Q6ZU35	K1211_HUMAN	KIAA1211	304	Glu-rich.									endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					TGGGAGGACGCGGAGCGGAGGG	0.733														1350	0.269569	0.2716	0.2781	5008	,	,		14300	0.0694		0.4076	False		,,,				2504	0.3252					uc003hbk.2																			0				ovary(1)|skin(1)	2						c.(907-909)GCG>GCGGAGCGGAGGGAGCGGAGG		hypothetical protein LOC57482				903,2311		258,387,962						-10.2	0.0		dbSNP_130	6	2065,4451		612,841,1805	no	coding	KIAA1211	NM_020722.1		870,1228,2767	A1A1,A1R,RR		31.6912,28.0958,30.5036				2968,6762				SO:0001652	inframe_insertion	57482							g.chr4:57180576_57180577insGGAGCGGAGGGAGCGGAG	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	Exception_encountered	4.37:g.57180576_57180577insGGAGCGGAGGGAGCGGAG	ENSP00000423366:p.Glu304_Arg305insArgArgGluArgArgGlu					KIAA1211_uc010iha.2_In_Frame_Ins_p.296_297insERRERR|KIAA1211_uc011bzz.1_In_Frame_Ins_p.213_214insERRERR|KIAA1211_uc003hbm.1_In_Frame_Ins_p.189_190insERRERR	p.303_304insERRERR	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN			8	1299_1300	+	Glioma(25;0.08)|all_neural(26;0.101)		303_304			Glu-rich.		Q9NTE2|Q9NTP8|Q9ULK9	In_Frame_Ins	INS	ENST00000504228.1	37	c.908_909insGGAGCGGAGGGAGCGGAG	CCDS43230.1																																																																																					0.733	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		4	2	4	2	---	---	---	---
CYP4V2	285440	broad.mit.edu	37	4	187120238	187120239	+	Splice_Site	INS	-	-	T			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr4:187120238_187120239insT	ENST00000378802.4	+	6	1105		c.e6+1			NM_207352.3	NP_997235.3	Q6ZWL3	CP4V2_HUMAN	cytochrome P450, family 4, subfamily V, polypeptide 2						fatty acid omega-oxidation (GO:0010430)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)|stomach(2)	20		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17)		TACCAACAGTGTAAGTCCCTGA	0.361																																						uc003iyw.3																			0					0						c.e6+1		cytochrome P450, family 4, subfamily v,																																				SO:0001630	splice_region_variant	285440				response to stimulus|visual perception	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr4:187120238_187120239insT	AK022114	CCDS34119.1	4q35.2	2004-07-05			ENSG00000145476	ENSG00000145476		"""Cytochrome P450s"""	23198	protein-coding gene	gene with protein product		608614				15042513	Standard	NM_207352		Approved	CYP4AH1	uc003iyw.4	Q6ZWL3	OTTHUMG00000160379	ENST00000378802.4:c.801+1->T	4.37:g.187120239_187120239dupT							p.S267_splice	NM_207352	NP_997235	Q6ZWL3	CP4V2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17)	6	1105	+		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)						B7U6W2|Q6ZTM4	Splice_Site	INS	ENST00000378802.4	37	c.801_splice	CCDS34119.1																																																																																					0.361	CYP4V2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360398.1	XM_209612	Intron	76	42	76	42	---	---	---	---
TRDN	10345	broad.mit.edu	37	6	123703272	123703273	+	Frame_Shift_Ins	INS	-	-	T	rs555383967		TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr6:123703272_123703273insT	ENST00000398178.3	-	15	1176_1177	c.1155_1156insA	c.(1153-1158)aaacctfs	p.P386fs	TRDN_ENST00000334268.4_Frame_Shift_Ins_p.P386fs	NM_006073.3	NP_006064.2	Q13061	TRDN_HUMAN	triadin	386					cellular calcium ion homeostasis (GO:0006874)|cytoplasmic microtubule organization (GO:0031122)|endoplasmic reticulum membrane organization (GO:0090158)|heart contraction (GO:0060047)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|myotube differentiation (GO:0014902)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|positive regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901846)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to organic cyclic compound (GO:0014070)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		CCTTCTGCAGGTTTTTTTGTTT	0.297																																						uc003pzj.1																			0				ovary(1)	1						c.(1153-1158)AAACCTfs		triadin																																				SO:0001589	frameshift_variant	10345				muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding	g.chr6:123703272_123703273insT	U18985	CCDS59035.1, CCDS75511.1	6q22.31	2008-05-15			ENSG00000186439	ENSG00000186439			12261	protein-coding gene	gene with protein product		603283				7588753	Standard	NM_001251987		Approved		uc003pzj.2	Q13061	OTTHUMG00000015497	ENST00000398178.3:c.1156dupA	6.37:g.123703279_123703279dupT	ENSP00000381240:p.Pro386fs					TRDN_uc003pzk.1_Frame_Shift_Ins_p.K386fs|TRDN_uc003pzl.1_Frame_Shift_Ins_p.K386fs|TRDN_uc010kem.1_5'UTR	p.K385fs	NM_006073	NP_006064	Q13061	TRDN_HUMAN		GBM - Glioblastoma multiforme(226;0.184)	15	1177_1178	-			385_386			Lumenal.		A5D6W5|F5H2W7|Q6NSB8	Frame_Shift_Ins	INS	ENST00000398178.3	37	c.1155_1156insA	CCDS55053.1																																																																																					0.297	TRDN-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				4	2	4	2	---	---	---	---
FERD3L	222894	broad.mit.edu	37	7	19184715	19184715	+	Frame_Shift_Del	DEL	G	G	-			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr7:19184715delG	ENST00000275461.3	-	1	329	c.271delC	c.(271-273)cgcfs	p.R91fs	AC003986.5_ENST00000452700.1_RNA	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN	Fer3-like bHLH transcription factor	91					cell development (GO:0048468)|floor plate development (GO:0033504)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of neurogenesis (GO:0050767)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						CTCTTGGGGCGGCCTAATAGG	0.602																																						uc003suo.1																			0				large_intestine(1)	1						c.(271-273)CGCfs		nephew of atonal 3							78.0	66.0	70.0					7																	19184715		2203	4300	6503	SO:0001589	frameshift_variant	222894				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr7:19184715delG	AF369897	CCDS5368.1	7p21.3	2013-10-17	2013-10-17		ENSG00000146618	ENSG00000146618		"""Basic helix-loop-helix proteins"""	16660	protein-coding gene	gene with protein product			"""Fer3-like (Drosophila)"""			11472856, 12217327	Standard	NM_152898		Approved	NATO3, N-TWIST, bHLHa31	uc003suo.1	Q96RJ6	OTTHUMG00000090823	ENST00000275461.3:c.271delC	7.37:g.19184715delG	ENSP00000275461:p.Arg91fs					uc003sun.1_RNA	p.R91fs	NM_152898	NP_690862	Q96RJ6	FER3L_HUMAN			1	330	-			91					Q495K0	Frame_Shift_Del	DEL	ENST00000275461.3	37	c.271delC	CCDS5368.1																																																																																					0.602	FERD3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207627.1			73	39	73	39	---	---	---	---
DLGAP2	9228	broad.mit.edu	37	8	1624759	1624759	+	Frame_Shift_Del	DEL	G	G	-			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr8:1624759delG	ENST00000421627.2	+	8	2157	c.2023delG	c.(2023-2025)gggfs	p.G675fs		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	754					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CCACTCTGTCGGGGTGCAAGT	0.542																																						uc003wpl.2																			0					0						c.(2023-2025)GGGfs		discs large-associated protein 2							34.0	38.0	37.0					8																	1624759		1903	4128	6031	SO:0001589	frameshift_variant	9228				neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	g.chr8:1624759delG	AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"""discs, large (Drosophila) homolog-associated protein 2"""			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.2023delG	8.37:g.1624759delG	ENSP00000400258:p.Gly675fs					DLGAP2_uc003wpm.2_Frame_Shift_Del_p.G661fs	p.G675fs	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)	8	2120	+		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)	754					A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Frame_Shift_Del	DEL	ENST00000421627.2	37	c.2023delG	CCDS47760.1																																																																																					0.542	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	NM_004745		29	20	29	20	---	---	---	---
Unknown	0	broad.mit.edu	37	11	122889507	122889508	+	IGR	INS	-	-	A			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chr11:122889507_122889508insA								BSX (37079 upstream) : HSPA8 (38688 downstream)																							TTCCTGCGACGAAGGAGGTGGT	0.564																																						uc010rzt.1																			0					0								full-length cDNA clone CS0DC021YJ17 of Neuroblastoma Cot 25-normalized of Homo sapiens (human).																																				SO:0001628	intergenic_variant	341056							g.chr11:122889507_122889508insA																													11.37:g.122889509_122889509dupA								NR_027288						1		+									RNA	INS		37	c.1234_1235insA																																																																																				0		0.564									7	4	7	4	---	---	---	---
ZNF645	158506	broad.mit.edu	37	X	22291349	22291349	+	Frame_Shift_Del	DEL	T	T	-			TCGA-22-4604-01A-01D-1267-08	TCGA-22-4604-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db2614fb-109c-4ce1-af4c-f648a0d417fb	5e86765f-cf21-47e0-8ab4-16f6c0f6d939	g.chrX:22291349delT	ENST00000323684.1	+	1	285	c.241delT	c.(241-243)tgtfs	p.C81fs		NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	81					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						TTGCTATCACTGTGCTAATTT	0.388																																						uc004dai.1																			0				lung(1)|pancreas(1)	2						c.(241-243)TGTfs		zinc finger protein 645							72.0	65.0	68.0					X																	22291349		2203	4300	6503	SO:0001589	frameshift_variant	158506					intracellular	zinc ion binding	g.chrX:22291349delT	AK098601	CCDS14205.1	Xp22.11	2014-01-21			ENSG00000175809	ENSG00000175809			26371	protein-coding gene	gene with protein product							Standard	NM_152577		Approved	FLJ25735, HAKAIL, CT138	uc004dai.2	Q8N7E2	OTTHUMG00000021242	ENST00000323684.1:c.241delT	X.37:g.22291349delT	ENSP00000323348:p.Cys81fs						p.C81fs	NM_152577	NP_689790	Q8N7E2	ZN645_HUMAN			1	290	+			81			RING-type.		A0AV29|A0AV31|E3SBK4|Q6DJY9	Frame_Shift_Del	DEL	ENST00000323684.1	37	c.241delT	CCDS14205.1																																																																																					0.388	ZNF645-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056037.1	NM_152577		68	85	68	85	---	---	---	---
