#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
AADACL4	343066	broad.mit.edu	37	1	12726115	12726115	+	Missense_Mutation	SNP	C	C	A	rs199871463	byFrequency	TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr1:12726115C>A	ENST00000376221.1	+	4	593	c.593C>A	c.(592-594)gCg>gAg	p.A198E		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	198						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)	p.A198E(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		GGAGGTGCAGCGGTGGCCGCC	0.582																																						uc001auf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(592-594)GCG>GAG		arylacetamide deacetylase-like 4							65.0	68.0	67.0					1																	12726115		2203	4300	6503	SO:0001583	missense	343066					integral to membrane	carboxylesterase activity	g.chr1:12726115C>A		CCDS30590.1	1p36.21	2010-12-14			ENSG00000204518	ENSG00000204518			32038	protein-coding gene	gene with protein product							Standard	XM_006710608		Approved	OTTHUMG00000001889	uc001auf.3	Q5VUY2	OTTHUMG00000001889	ENST00000376221.1:c.593C>A	1.37:g.12726115C>A	ENSP00000365395:p.Ala198Glu						p.A198E	NM_001013630	NP_001013652	Q5VUY2	ADCL4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)	4	593	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	198			Lumenal (Potential).			Missense_Mutation	SNP	ENST00000376221.1	37	c.593C>A	CCDS30590.1	.	.	.	.	.	.	.	.	.	.	C	13.31	2.198576	0.38806	.	.	ENSG00000204518	ENST00000376221	T	0.11277	2.79	3.95	-7.9	0.01169	Alpha/beta hydrolase fold-3 (1);	3.576970	0.01700	N	0.027133	T	0.22244	0.0536	M	0.89214	3.015	0.09310	N	1	P	0.46512	0.879	P	0.49361	0.608	T	0.51284	-0.8725	10	0.87932	D	0	2.4121	3.752	0.08570	0.1159:0.4278:0.11:0.3463	.	198	Q5VUY2	ADCL4_HUMAN	E	198	ENSP00000365395:A198E	ENSP00000365395:A198E	A	+	2	0	AADACL4	12648702	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.285000	0.08410	-1.825000	0.01207	-2.122000	0.00348	GCG		PASS	0.582	AADACL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005328.1	NM_001013630		6	42	6	42	---	---	---	---
PAX7	5081	broad.mit.edu	37	1	19062345	19062346	+	Missense_Mutation	DNP	GG	GG	TC	rs145120435	byFrequency	TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr1:19062345_19062346GG>TC	ENST00000375375.3	+	8	1973_1974	c.1375_1376GG>TC	c.(1375-1377)GGc>TCc	p.G459S	PAX7_ENST00000420770.2_Missense_Mutation_p.G459S|PAX7_ENST00000400661.3_Missense_Mutation_p.G457S	NM_002584.2|NM_013945.2	NP_002575.1|NP_039236.1	P23759	PAX7_HUMAN	paired box 7	459					anatomical structure morphogenesis (GO:0009653)|cartilage development (GO:0051216)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic skeletal system development (GO:0048706)|muscle tissue morphogenesis (GO:0060415)|negative regulation of apoptotic process (GO:0043066)|neuron fate commitment (GO:0048663)|positive regulation of histone methylation (GO:0031062)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell fate commitment (GO:0010453)|regulation of protein binding (GO:0043393)|skeletal muscle satellite cell commitment (GO:0014813)|skeletal muscle tissue regeneration (GO:0043403)|spinal cord association neuron differentiation (GO:0021527)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G459S(2)|p.G459C(2)|p.G459A(2)	PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		CCCCGTGGCCGGCTATCAGTAC	0.673			T	FOXO1A	alveolar rhabdomyosarcoma																																	uc001bay.2				Dom	yes		1	1p36.2-p36.12	5081	T	paired box gene 7			M	FOXO1A		alveolar rhabdomyosarcoma	PAX7/FOXO1(197)	6	Substitution - Missense(6)		lung(6)	soft_tissue(197)|lung(3)|prostate(1)|ovary(1)|breast(1)	203						c.(1375-1377)GGC>TGC|c.(1375-1377)GGC>GCC		paired box 7 isoform 1																																				SO:0001583	missense	5081				anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:19062345G>T|g.chr1:19062346G>C	X96743	CCDS186.1, CCDS44074.1, CCDS44075.1	1p36.13	2011-06-20	2007-07-12		ENSG00000009709	ENSG00000009709		"""Paired boxes"", ""Homeoboxes / PRD class"""	8621	protein-coding gene	gene with protein product		167410	"""paired box gene 7"""			7981748, 8431641	Standard	NM_001135254		Approved	Hup1	uc001bay.3	P23759	OTTHUMG00000002433	Exception_encountered	1.37:g.19062345_19062346delinsTC	ENSP00000364524:p.Gly459Ser					PAX7_uc001baz.2_Missense_Mutation_p.G457C|PAX7_uc010oct.1_Missense_Mutation_p.G459C|PAX7_uc001baz.2_Missense_Mutation_p.G457A|PAX7_uc010oct.1_Missense_Mutation_p.G459A	p.G459C|p.G459A	NM_002584	NP_002575	P23759	PAX7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)	8	1973|1974	+		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)	459					E9PFV9|Q0VA99|Q2PJS5	Missense_Mutation	SNP	ENST00000375375.3	37	c.1375G>T|c.1376G>C	CCDS186.1																																																																																				PASS	0.673	PAX7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000006928.1	NM_002584		8	65	8	65	---	---	---	---
EXTL1	2134	broad.mit.edu	37	1	26349716	26349716	+	Silent	SNP	C	C	A			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr1:26349716C>A	ENST00000374280.3	+	1	1446	c.579C>A	c.(577-579)ggC>ggA	p.G193G	EXTL1_ENST00000484339.1_3'UTR	NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	193					protein glycosylation (GO:0006486)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)	p.G193G(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		TCCGGCCCGGCTTTGATGTGG	0.697																																						uc001blf.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(577-579)GGC>GGA		exostoses-like 1							25.0	27.0	27.0					1																	26349716		2202	4298	6500	SO:0001819	synonymous_variant	2134				skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding	g.chr1:26349716C>A	U67191	CCDS271.1	1p36.1	2013-03-01	2013-03-01		ENSG00000158008	ENSG00000158008	2.4.1.224	"""Exostosin glycosyltransferase family"""	3515	protein-coding gene	gene with protein product	"""glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""alpha-N-acetylglucosaminyltransferase II"", ""glucuronyl-N-acetylglucosaminylproteoglycan alpha-1,4-N- acetylglucosaminyltransferase"", ""exostosin-L"""	601738	"""exostoses (multiple)-like 1"""			9037597	Standard	NM_004455		Approved	EXTL, MGC70794	uc001blf.3	Q92935	OTTHUMG00000007509	ENST00000374280.3:c.579C>A	1.37:g.26349716C>A							p.G193G	NM_004455	NP_004446	Q92935	EXTL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)	1	1446	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	193			Lumenal (Potential).		Q6GSC1	Silent	SNP	ENST00000374280.3	37	c.579C>A	CCDS271.1																																																																																				PASS	0.697	EXTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019749.1	NM_004455		5	27	5	27	---	---	---	---
CSMD2	114784	broad.mit.edu	37	1	34003047	34003047	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr1:34003047G>T	ENST00000373381.4	-	61	9970	c.9794C>A	c.(9793-9795)cCc>cAc	p.P3265H		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3243						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P3121H(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TATGCAGCTGGGCTGGGTGCC	0.582																																						uc001bxn.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(5)|pancreas(1)	12						c.(9361-9363)CCC>CAC		CUB and Sushi multiple domains 2							103.0	106.0	105.0					1																	34003047		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34003047G>T	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.9794C>A	1.37:g.34003047G>T	ENSP00000362479:p.Pro3265His					CSMD2_uc001bxm.1_Missense_Mutation_p.P3265H	p.P3121H	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN			60	9391	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	3121			Extracellular (Potential).|Sushi 24.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37	c.9362C>A		.	.	.	.	.	.	.	.	.	.	G	17.52	3.411381	0.62399	.	.	ENSG00000121904	ENST00000373381	T	0.77620	-1.11	5.66	5.66	0.87406	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	D	0.93949	0.8063	H	0.99425	4.56	0.80722	D	1	D;D	0.89917	0.981;1.0	D;D	0.97110	0.971;1.0	D	0.96408	0.9302	10	0.87932	D	0	.	18.7275	0.91720	0.0:0.0:1.0:0.0	.	3121;3265	Q7Z408;E7EUA6	CSMD2_HUMAN;.	H	3265	ENSP00000362479:P3265H	ENSP00000241312:P3121H	P	-	2	0	CSMD2	33775634	1.000000	0.71417	1.000000	0.80357	0.033000	0.12548	9.738000	0.98835	2.673000	0.90976	0.555000	0.69702	CCC		PASS	0.582	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		9	92	9	92	---	---	---	---
CTPS1	1503	broad.mit.edu	37	1	41461729	41461729	+	Missense_Mutation	SNP	G	G	C			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr1:41461729G>C	ENST00000372621.4	+	8	1369	c.861G>C	c.(859-861)gaG>gaC	p.E287D	CTPS1_ENST00000543104.1_Missense_Mutation_p.E294D|CTPS1_ENST00000372616.1_Missense_Mutation_p.E287D|CTPS1_ENST00000541520.1_Missense_Mutation_p.E56D	NM_001905.2	NP_001896.2			CTP synthase 1									p.E287D(2)		endometrium(3)|lung(10)	13						AATGGAAAGAGATGGCTGACA	0.468																																						uc001cgk.3																			2	Substitution - Missense(2)		lung(2)		0						c.(859-861)GAG>GAC		CTP synthase	L-Glutamine(DB00130)						74.0	77.0	76.0					1																	41461729		2203	4300	6503	SO:0001583	missense	1503				CTP biosynthetic process|glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|response to drug	cytosol	ATP binding|CTP synthase activity|protein binding	g.chr1:41461729G>C	BC009408	CCDS459.1	1p34.1	2012-05-02	2012-05-02	2012-05-02	ENSG00000171793	ENSG00000171793	6.3.4.2		2519	protein-coding gene	gene with protein product		123860	"""CTP synthase"""	CTPS		1783378	Standard	XM_005270536		Approved		uc001cgk.4	P17812	OTTHUMG00000005712	ENST00000372621.4:c.861G>C	1.37:g.41461729G>C	ENSP00000361704:p.Glu287Asp					CTPS_uc010ojo.1_Missense_Mutation_p.E56D|CTPS_uc010ojp.1_Missense_Mutation_p.E294D|CTPS_uc001cgl.3_Missense_Mutation_p.E287D|CTPS_uc010ojq.1_Missense_Mutation_p.E131D|CTPS_uc009vwe.2_Missense_Mutation_p.E7D	p.E287D	NM_001905	NP_001896	P17812	PYRG1_HUMAN			8	1369	+	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	287						Missense_Mutation	SNP	ENST00000372621.4	37	c.861G>C	CCDS459.1	.	.	.	.	.	.	.	.	.	.	G	8.898	0.955582	0.18507	.	.	ENSG00000171793	ENST00000372621;ENST00000541520;ENST00000543104;ENST00000372616	T;T;T	0.44482	0.92;0.93;0.92	5.81	4.89	0.63831	.	0.045357	0.85682	D	0.000000	T	0.25269	0.0614	N	0.13003	0.285	0.58432	D	0.999999	B;B;B	0.09022	0.001;0.002;0.001	B;B;B	0.10450	0.001;0.005;0.001	T	0.07065	-1.0792	10	0.12103	T	0.63	.	14.0715	0.64863	0.0743:0.0:0.9257:0.0	.	294;56;287	B7Z9C4;B4DR64;P17812	.;.;PYRG1_HUMAN	D	287;56;294;287	ENSP00000361704:E287D;ENSP00000442646:E56D;ENSP00000361699:E287D	ENSP00000361699:E287D	E	+	3	2	CTPS	41234316	1.000000	0.71417	1.000000	0.80357	0.736000	0.42039	2.968000	0.49224	2.747000	0.94245	0.650000	0.86243	GAG		PASS	0.468	CTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015629.1	NM_001905		3	26	3	26	---	---	---	---
PARS2	25973	broad.mit.edu	37	1	55223696	55223696	+	Missense_Mutation	SNP	C	C	T			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr1:55223696C>T	ENST00000371279.3	-	2	1221	c.1139G>A	c.(1138-1140)gGc>gAc	p.G380D		NM_152268.3	NP_689481.2	Q7L3T8	SYPM_HUMAN	prolyl-tRNA synthetase 2, mitochondrial (putative)	380					gene expression (GO:0010467)|prolyl-tRNA aminoacylation (GO:0006433)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|proline-tRNA ligase activity (GO:0004827)	p.G380D(1)		breast(1)|endometrium(3)|kidney(2)|lung(4)|ovary(2)|prostate(2)|skin(1)	15					L-Proline(DB00172)	CTCCTTACTGCCCTTCTTAGG	0.607																																						uc001cxy.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1138-1140)GGC>GAC		prolyl-tRNA synthetase (mitochondrial)(putative)	L-Proline(DB00172)						67.0	66.0	67.0					1																	55223696		2203	4300	6503	SO:0001583	missense	25973				prolyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|proline-tRNA ligase activity	g.chr1:55223696C>T	AK025585	CCDS597.1	1p32.2	2011-07-01	2007-02-23		ENSG00000162396	ENSG00000162396	6.1.1.15	"""Aminoacyl tRNA synthetases / Class II"""	30563	protein-coding gene	gene with protein product	"""proline tRNA ligase 2, mitochondrial (putative)"""	612036				15779907	Standard	NM_152268		Approved	DKFZp727A071	uc001cxy.3	Q7L3T8	OTTHUMG00000009915	ENST00000371279.3:c.1139G>A	1.37:g.55223696C>T	ENSP00000360327:p.Gly380Asp						p.G380D	NM_152268	NP_689481	Q7L3T8	SYPM_HUMAN			2	1222	-			380					A8K0W4|Q9H6S5|Q9UFT1	Missense_Mutation	SNP	ENST00000371279.3	37	c.1139G>A	CCDS597.1	.	.	.	.	.	.	.	.	.	.	C	15.14	2.743755	0.49151	.	.	ENSG00000162396	ENST00000371279	D	0.82711	-1.64	5.66	3.76	0.43208	Anticodon-binding (3);	0.052189	0.85682	D	0.000000	D	0.90473	0.7016	M	0.86178	2.8	0.80722	D	1	D	0.65815	0.995	D	0.64776	0.929	D	0.90884	0.4756	10	0.72032	D	0.01	-17.6761	12.784	0.57493	0.1311:0.7431:0.1258:0.0	.	380	Q7L3T8	SYPM_HUMAN	D	380	ENSP00000360327:G380D	ENSP00000360327:G380D	G	-	2	0	PARS2	54996284	1.000000	0.71417	1.000000	0.80357	0.214000	0.24535	5.937000	0.70162	0.713000	0.32060	-0.182000	0.12963	GGC		PASS	0.607	PARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027436.1	NM_152268		3	64	3	64	---	---	---	---
WLS	79971	broad.mit.edu	37	1	68697929	68697929	+	Silent	SNP	A	A	G			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr1:68697929A>G	ENST00000262348.4	-	1	307	c.54T>C	c.(52-54)ggT>ggC	p.G18G	WLS_ENST00000354777.2_Silent_p.G18G|WLS_ENST00000540432.1_Silent_p.G18G|WLS_ENST00000370976.3_Silent_p.G18G|WLS_ENST00000370971.1_Silent_p.G18G	NM_024911.6	NP_079187.3	Q5T9L3	WLS_HUMAN	wntless Wnt ligand secretion mediator	18					anterior/posterior axis specification (GO:0009948)|mesoderm formation (GO:0001707)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|Wnt signaling pathway (GO:0016055)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)	p.G18G(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1)	20						GCAGAATCCCACCAACAATGC	0.468																																						uc001def.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(52-54)GGT>GGC		G protein-coupled receptor 177 isoform 1							176.0	162.0	167.0					1																	68697929		2203	4300	6503	SO:0001819	synonymous_variant	79971				multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Wnt receptor signaling pathway	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	signal transducer activity	g.chr1:68697929A>G	BX538320	CCDS642.1, CCDS30750.1, CCDS53331.1	1p31.2	2013-10-03	2013-10-03	2010-03-02	ENSG00000116729	ENSG00000116729			30238	protein-coding gene	gene with protein product	"""wntless homolog"""	611514	"""chromosome 1 open reading frame 139"", ""G protein-coupled receptor 177"", ""wntless homolog (Drosophila)"""	C1orf139, GPR177		12761501	Standard	NM_024911		Approved	FLJ23091, MRP, wls, EVI, mig-14	uc001dee.3	Q5T9L3	OTTHUMG00000009153	ENST00000262348.4:c.54T>C	1.37:g.68697929A>G						WLS_uc001dee.2_Silent_p.G18G|WLS_uc001deg.1_Silent_p.G18G|WLS_uc001deh.1_Silent_p.G18G	p.G18G	NM_024911	NP_079187	Q5T9L3	WLS_HUMAN			1	325	-			18					B2RNT2|Q5JRS7|Q7Z2Z9|Q8NC43	Silent	SNP	ENST00000262348.4	37	c.54T>C	CCDS642.1	.	.	.	.	.	.	.	.	.	.	a	9.868	1.198254	0.22037	.	.	ENSG00000116729	ENST00000534713	.	.	.	4.72	-5.12	0.02893	.	.	.	.	.	T	0.20251	0.0487	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41088	-0.9528	4	.	.	.	-0.4257	2.0785	0.03630	0.2215:0.3902:0.2171:0.1712	.	.	.	.	A	12	.	.	V	-	2	0	WLS	68470517	0.549000	0.26481	0.986000	0.45419	0.985000	0.73830	-0.253000	0.08794	-0.667000	0.05303	0.249000	0.18162	GTG		PASS	0.468	WLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025368.1	NM_024911		6	43	6	43	---	---	---	---
LRRC8C	84230	broad.mit.edu	37	1	90179820	90179820	+	Missense_Mutation	SNP	C	C	T			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr1:90179820C>T	ENST00000370454.4	+	3	1946	c.1691C>T	c.(1690-1692)tCc>tTc	p.S564F	LRRC8C_ENST00000479252.1_Intron|RP11-302M6.4_ENST00000370453.5_Intron	NM_032270.4	NP_115646	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	564					fat cell differentiation (GO:0045444)|ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.S564F(1)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		GTTGATGTTTCCAGCCATCTC	0.448																																						uc001dnl.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1)	8						c.(1690-1692)TCC>TTC		leucine rich repeat containing 8 family, member							69.0	69.0	69.0					1																	90179820		2203	4300	6503	SO:0001583	missense	84230					endoplasmic reticulum membrane|integral to membrane		g.chr1:90179820C>T		CCDS725.1	1p22.2	2011-02-10			ENSG00000171488	ENSG00000171488			25075	protein-coding gene	gene with protein product	"""hypothetical protein AD158"""	612889				11230166	Standard	NM_032270		Approved	AD158	uc001dnl.4	Q8TDW0	OTTHUMG00000010305	ENST00000370454.4:c.1691C>T	1.37:g.90179820C>T	ENSP00000359483:p.Ser564Phe						p.S564F	NM_032270	NP_115646	Q8TDW0	LRC8C_HUMAN		all cancers(265;0.00756)|Epithelial(280;0.0313)	3	1933	+		all_lung(203;0.126)	564					B3KXS9|Q29RV6|Q9H075	Missense_Mutation	SNP	ENST00000370454.4	37	c.1691C>T	CCDS725.1	.	.	.	.	.	.	.	.	.	.	C	19.16	3.774374	0.70107	.	.	ENSG00000171488	ENST00000370454	T	0.23950	1.88	5.56	5.56	0.83823	.	0.100465	0.64402	D	0.000001	T	0.33030	0.0849	L	0.50333	1.59	0.58432	D	0.999999	D	0.56968	0.978	P	0.58266	0.836	T	0.00468	-1.1721	10	0.31617	T	0.26	.	19.9628	0.97258	0.0:1.0:0.0:0.0	.	564	Q8TDW0	LRC8C_HUMAN	F	564	ENSP00000359483:S564F	ENSP00000359483:S564F	S	+	2	0	LRRC8C	89952408	1.000000	0.71417	0.994000	0.49952	0.940000	0.58332	7.773000	0.85462	2.784000	0.95788	0.644000	0.83932	TCC		PASS	0.448	LRRC8C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028435.2	NM_032270		4	55	4	55	---	---	---	---
KCNC4	3749	broad.mit.edu	37	1	110754586	110754586	+	Silent	SNP	G	G	A			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr1:110754586G>A	ENST00000369787.3	+	1	492	c.465G>A	c.(463-465)gaG>gaA	p.E155E	KCNC4_ENST00000413138.3_Silent_p.E155E|KCNC4_ENST00000438661.2_Silent_p.E155E|KCNC4-AS1_ENST00000455967.1_RNA	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	155					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.E155E(2)		central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		GCGACGCCGAGGAGGCGCTCG	0.716																																						uc001dzh.2																			2	Substitution - coding silent(2)		lung(2)	large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(463-465)GAG>GAA		Shaw-related voltage-gated potassium channel							24.0	28.0	27.0					1																	110754586		2200	4298	6498	SO:0001819	synonymous_variant	3749				synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr1:110754586G>A	BC101769	CCDS821.1, CCDS44193.1	1p21	2012-07-05			ENSG00000116396	ENSG00000116396		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6236	protein-coding gene	gene with protein product		176265	"""chromosome 1 open reading frame 30"""	C1orf30		1920536, 1740329, 16382104	Standard	NM_004978		Approved	Kv3.4, HKSHIIIC	uc001dzh.3	Q03721	OTTHUMG00000011037	ENST00000369787.3:c.465G>A	1.37:g.110754586G>A						KCNC4_uc001dzf.2_Silent_p.E155E|KCNC4_uc009wfr.2_Silent_p.E155E|KCNC4_uc001dzg.2_Silent_p.E155E|KCNC4_uc001dzi.2_RNA	p.E155E	NM_004978	NP_004969	Q03721	KCNC4_HUMAN		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)	1	522	+		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	155			Cytoplasmic (Potential).		Q3MIM4|Q5TBI6	Silent	SNP	ENST00000369787.3	37	c.465G>A	CCDS821.1																																																																																				PASS	0.716	KCNC4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052146.2	NM_001039574		3	15	3	15	---	---	---	---
CHI3L2	1117	broad.mit.edu	37	1	111777527	111777527	+	Splice_Site	SNP	A	A	G			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr1:111777527A>G	ENST00000445067.2	+	7	1100		c.e7-1		CHI3L2_ENST00000369748.4_Splice_Site|CHI3L2_ENST00000369744.2_Splice_Site|CHI3L2_ENST00000524472.1_Splice_Site|CHI3L2_ENST00000466741.1_Splice_Site			Q15782	CH3L2_HUMAN	chitinase 3-like 2						carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)	extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(1)	19		all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141)		GCTTCTTTCCAGGTTCCACCC	0.398																																						uc001eam.2																			1	Unknown(1)		lung(1)	central_nervous_system(1)	1						c.e5-2		chitinase 3-like 2 isoform a							104.0	95.0	98.0					1																	111777527		2203	4300	6503	SO:0001630	splice_region_variant	1117				chitin catabolic process	extracellular space	cation binding|chitinase activity	g.chr1:111777527A>G	U49835	CCDS30802.1, CCDS30803.1, CCDS41367.1	1p13.3	2008-02-05			ENSG00000064886	ENSG00000064886			1933	protein-coding gene	gene with protein product		601526				8702629	Standard	NM_001025197		Approved	YKL-39, YKL39	uc001eam.3	Q15782	OTTHUMG00000012174	ENST00000445067.2:c.330-1A>G	1.37:g.111777527A>G						CHI3L2_uc001ean.2_Splice_Site_p.G100_splice|CHI3L2_uc001eao.2_Splice_Site_p.G31_splice|CHI3L2_uc009wga.2_Splice_Site_p.G31_splice	p.G110_splice	NM_004000	NP_003991	Q15782	CH3L2_HUMAN		Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141)	5	401	+		all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)						A6NNY3|B4DPR7|Q15749|Q15783|Q5VUV7|Q96F97	Splice_Site	SNP	ENST00000445067.2	37	c.330_splice	CCDS30802.1	.	.	.	.	.	.	.	.	.	.	A	7.832	0.720033	0.15372	.	.	ENSG00000064886	ENST00000445067;ENST00000528451;ENST00000486561;ENST00000369744;ENST00000369748;ENST00000474304;ENST00000466741;ENST00000477185;ENST00000467038;ENST00000497587;ENST00000524472	.	.	.	3.71	3.71	0.42584	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.3781	0.44094	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CHI3L2	111579050	0.955000	0.32602	0.464000	0.27143	0.139000	0.21198	2.508000	0.45450	1.522000	0.49001	0.379000	0.24179	.		PASS	0.398	CHI3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033669.4	NM_004000	Intron	4	46	4	46	---	---	---	---
NOTCH2	4853	broad.mit.edu	37	1	120465271	120465271	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr1:120465271C>A	ENST00000256646.2	-	27	5209	c.4990G>T	c.(4990-4992)Gtg>Ttg	p.V1664L	NOTCH2_ENST00000493703.1_5'UTR	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1664	Negative regulatory region (NRR).				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)	p.V1664L(1)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACGACAGACACAAGAGGGTAT	0.517			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													uc001eik.2				Dom	yes		1	1p13-p11	4853	N|F|Mis	Notch homolog 2			L			marginal zone lymphoma|DLBCL		1	Substitution - Missense(1)		lung(1)	lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27						c.(4990-4992)GTG>TTG		notch 2 preproprotein							101.0	99.0	100.0					1																	120465271		2203	4300	6503	SO:0001583	missense	4853	Alagille_Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120465271C>A	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.4990G>T	1.37:g.120465271C>A	ENSP00000256646:p.Val1664Leu						p.V1664L	NM_024408	NP_077719	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	27	5246	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	1664			Negative regulatory region (NRR).|Extracellular (Potential).		Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	ENST00000256646.2	37	c.4990G>T	CCDS908.1	.	.	.	.	.	.	.	.	.	.	C	10.44	1.351400	0.24512	.	.	ENSG00000134250	ENST00000256646	T	0.30714	1.52	5.67	5.67	0.87782	Notch, NODP domain (1);	0.000000	0.34223	U	0.004156	T	0.19846	0.0477	M	0.72118	2.19	0.48087	D	0.999585	B	0.33171	0.4	B	0.30251	0.113	T	0.08046	-1.0741	10	0.11182	T	0.66	.	18.7645	0.91866	0.0:1.0:0.0:0.0	.	1664	Q04721	NOTC2_HUMAN	L	1664	ENSP00000256646:V1664L	ENSP00000256646:V1664L	V	-	1	0	NOTCH2	120266794	0.776000	0.28616	0.987000	0.45799	0.832000	0.47134	2.486000	0.45259	2.687000	0.91594	0.563000	0.77884	GTG		PASS	0.517	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		6	65	6	65	---	---	---	---
HIST2H2BF	440689	broad.mit.edu	37	1	149783657	149783657	+	Silent	SNP	G	G	A			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr1:149783657G>A	ENST00000369167.1	-	1	257	c.222C>T	c.(220-222)atC>atT	p.I74I	RP11-196G18.21_ENST00000420462.1_RNA|HIST2H2BF_ENST00000545683.1_Silent_p.I74I|HIST2H2BF_ENST00000427880.2_Silent_p.I74I|HIST2H2BF_ENST00000469483.1_5'UTR	NM_001024599.4	NP_001019770.1	Q5QNW6	H2B2F_HUMAN	histone cluster 2, H2bf	74					chromatin organization (GO:0006325)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.I74I(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)					CCTCTCCCGCGATGCGCTCGA	0.642																																						uc001esr.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(220-222)ATC>ATT		histone cluster 2, H2bf isoform a							60.0	56.0	57.0					1																	149783657		2202	4277	6479	SO:0001819	synonymous_variant	440689				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:149783657G>A	BC110793	CCDS30846.1, CCDS53359.1	1q21.2	2013-06-03	2006-10-11		ENSG00000203814	ENSG00000203814		"""Histones / Replication-dependent"""	24700	protein-coding gene	gene with protein product			"""histone 2, H2bf"""				Standard	NM_001161334		Approved		uc010pbj.2	Q5QNW6	OTTHUMG00000183159	ENST00000369167.1:c.222C>T	1.37:g.149783657G>A						HIST2H2BF_uc010pbj.1_Silent_p.I74I|HIST2H2BF_uc010pbk.1_Silent_p.I74I	p.I74I	NM_001024599	NP_001019770	Q5QNW6	H2B2F_HUMAN			1	272	-	Breast(34;0.0124)|all_hematologic(923;0.127)		74					A8K0U9|B4DLA9	Silent	SNP	ENST00000369167.1	37	c.222C>T	CCDS30846.1																																																																																				PASS	0.642	HIST2H2BF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033453.2	NM_001024599		7	115	7	115	---	---	---	---
FLG	2312	broad.mit.edu	37	1	152280685	152280685	+	Missense_Mutation	SNP	C	C	T	rs544807449|rs386635457	byFrequency	TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr1:152280685C>T	ENST00000368799.1	-	3	6712	c.6677G>A	c.(6676-6678)gGc>gAc	p.G2226D	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2226	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.G2226D(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTGTCCCTGGCCCACCAGTGA	0.562									Ichthyosis																													uc001ezu.1																			1	Substitution - Missense(1)		lung(1)	ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(6676-6678)GGC>GAC		filaggrin							243.0	241.0	241.0					1																	152280685		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152280685C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.6677G>A	1.37:g.152280685C>T	ENSP00000357789:p.Gly2226Asp						p.G2226D	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6713	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2226			Ser-rich.|Filaggrin 13.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.6677G>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	c	4.394	0.072779	0.08436	.	.	ENSG00000143631	ENST00000368799	T	0.07216	3.21	1.93	-1.95	0.07548	.	.	.	.	.	T	0.04137	0.0115	M	0.80028	2.48	0.09310	N	1	D	0.57257	0.979	P	0.48368	0.575	T	0.18587	-1.0332	9	0.23891	T	0.37	.	0.8066	0.01085	0.2337:0.3704:0.2307:0.1652	.	2226	P20930	FILA_HUMAN	D	2226	ENSP00000357789:G2226D	ENSP00000357789:G2226D	G	-	2	0	FLG	150547309	0.718000	0.27976	0.000000	0.03702	0.010000	0.07245	0.628000	0.24522	-0.474000	0.06862	0.430000	0.28490	GGC		PASS	0.562	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		17	233	17	233	---	---	---	---
FLG2	388698	broad.mit.edu	37	1	152327943	152327943	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr1:152327943G>T	ENST00000388718.5	-	3	2391	c.2319C>A	c.(2317-2319)caC>caA	p.H773Q	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	773	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.H773Q(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCCAGAACTGTGTTGGCCAT	0.512																																						uc001ezw.3																			1	Substitution - Missense(1)		lung(1)	ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17						c.(2317-2319)CAC>CAA		filaggrin family member 2							380.0	313.0	336.0					1																	152327943		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152327943G>T	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.2319C>A	1.37:g.152327943G>T	ENSP00000373370:p.His773Gln					uc001ezv.2_Intron	p.H773Q	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2392	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		773			Ser-rich.		Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.2319C>A	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	G	2.807	-0.247883	0.05867	.	.	ENSG00000143520	ENST00000388718	T	0.20598	2.06	3.77	-6.43	0.01926	.	.	.	.	.	T	0.02807	0.0084	L	0.38531	1.155	0.09310	N	1	B	0.26081	0.141	B	0.21546	0.035	T	0.40079	-0.9582	9	0.11485	T	0.65	-11.701	1.8974	0.03261	0.2655:0.4021:0.1985:0.1339	.	773	Q5D862	FILA2_HUMAN	Q	773	ENSP00000373370:H773Q	ENSP00000373370:H773Q	H	-	3	2	FLG2	150594567	0.000000	0.05858	0.002000	0.10522	0.011000	0.07611	-0.075000	0.11431	-0.356000	0.08187	-0.690000	0.03725	CAC		PASS	0.512	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		73	238	73	238	---	---	---	---
LMNA	4000	broad.mit.edu	37	1	156105054	156105054	+	Missense_Mutation	SNP	G	G	A			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr1:156105054G>A	ENST00000368300.4	+	5	1099	c.887G>A	c.(886-888)cGc>cAc	p.R296H	LMNA_ENST00000496738.1_3'UTR|LMNA_ENST00000368301.2_Missense_Mutation_p.R296H|LMNA_ENST00000347559.2_Missense_Mutation_p.R296H|LMNA_ENST00000361308.4_Missense_Mutation_p.R296H|LMNA_ENST00000368299.3_Missense_Mutation_p.R296H|LMNA_ENST00000473598.2_Missense_Mutation_p.R197H|LMNA_ENST00000448611.2_Missense_Mutation_p.R184H|LMNA_ENST00000392353.3_Missense_Mutation_p.R215H|LMNA_ENST00000368297.1_Missense_Mutation_p.R215H	NM_170707.3	NP_733821.1	P02545	LMNA_HUMAN	lamin A/C	296	Coil 2.|Rod.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular protein metabolic process (GO:0044267)|cellular response to hypoxia (GO:0071456)|endoplasmic reticulum unfolded protein response (GO:0030968)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic nuclear envelope reassembly (GO:0007084)|muscle organ development (GO:0007517)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|positive regulation of cell aging (GO:0090343)|protein localization to nucleus (GO:0034504)|regulation of cell migration (GO:0030334)|regulation of protein localization to nucleus (GO:1900180)|sterol regulatory element binding protein import into nucleus (GO:0035105)|ventricular cardiac muscle cell development (GO:0055015)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament (GO:0005882)|lamin filament (GO:0005638)|nuclear envelope (GO:0005635)|nuclear lamina (GO:0005652)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	structural molecule activity (GO:0005198)	p.R296H(2)		NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10	Hepatocellular(266;0.158)					CAGCAGTCGCGCATCCGCATC	0.637									Werner syndrome;Hutchinson-Gilford Progeria Syndrome																													uc001fni.2																			2	Substitution - Missense(2)		lung(1)|endometrium(1)	ovary(2)	2						c.(886-888)CGC>CAC		lamin A/C isoform 1 precursor							33.0	35.0	35.0					1																	156105054		2203	4300	6503	SO:0001583	missense	4000	Werner_syndrome|Hutchinson-Gilford_Progeria_Syndrome	Familial Cancer Database	WS, Adult Progeria;HGPS, Progeria	cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration	cytoplasm|lamin filament|nuclear envelope|nuclear envelope|perinuclear region of cytoplasm	protein binding|structural molecule activity|structural molecule activity	g.chr1:156105054G>A	BC014507	CCDS1129.1, CCDS1131.1, CCDS58038.1, CCDS72941.1, CCDS72942.1	1q22	2014-09-17			ENSG00000160789	ENSG00000160789		"""Intermediate filaments type V, lamins"""	6636	protein-coding gene	gene with protein product		150330	"""cardiomyopathy, dilated 1A (autosomal dominant)"", ""limb girdle muscular dystrophy 1B (autosomal dominant)"", ""progeria 1 (Hutchinson-Gilford type)"", ""lamin A/C-like 1"""	LMN1, CMD1A, LGMD1B, PRO1, LMNL1		8511676, 8838815, 12702809	Standard	NM_005572		Approved	HGPS	uc001fni.3	P02545	OTTHUMG00000013961	ENST00000368300.4:c.887G>A	1.37:g.156105054G>A	ENSP00000357283:p.Arg296His					LMNA_uc001fnf.1_Missense_Mutation_p.R296H|LMNA_uc001fng.2_Missense_Mutation_p.R296H|LMNA_uc001fnh.2_Missense_Mutation_p.R296H|LMNA_uc009wro.1_Missense_Mutation_p.R296H|LMNA_uc010pgz.1_Missense_Mutation_p.R184H|LMNA_uc001fnj.2_Missense_Mutation_p.R215H|LMNA_uc001fnk.2_Missense_Mutation_p.R197H|LMNA_uc009wrp.2_Missense_Mutation_p.A24T|LMNA_uc010pha.1_5'Flank	p.R296H	NM_170707	NP_733821	P02545	LMNA_HUMAN			5	1136	+	Hepatocellular(266;0.158)		296			Coil 2.|Rod.		B4DI32|D3DVB0|D6RAQ3|E7EUI9|P02546|Q5I6Y4|Q5I6Y6|Q5TCJ2|Q5TCJ3|Q6UYC3|Q969I8|Q96JA2	Missense_Mutation	SNP	ENST00000368300.4	37	c.887G>A	CCDS1129.1	.	.	.	.	.	.	.	.	.	.	G	16.98	3.271111	0.59649	.	.	ENSG00000160789	ENST00000368301;ENST00000347559;ENST00000361308;ENST00000368300;ENST00000368299;ENST00000292302;ENST00000392355;ENST00000448611;ENST00000368297;ENST00000473598;ENST00000392353	D;D;D;D;D;D;D;D;D	0.91894	-2.93;-2.93;-2.93;-2.93;-2.93;-2.93;-2.93;-2.93;-2.93	5.6	5.6	0.85130	Filament (1);	0.000000	0.56097	D	0.000037	D	0.92001	0.7466	M	0.82132	2.575	0.80722	D	1	B;P;B;B;P;B;P	0.41524	0.359;0.753;0.112;0.376;0.753;0.187;0.709	B;B;B;B;B;B;B	0.43680	0.177;0.427;0.075;0.168;0.373;0.071;0.302	D	0.92875	0.6318	10	0.59425	D	0.04	.	17.1117	0.86676	0.0:0.0:1.0:0.0	.	184;296;197;215;296;296;296	E7EUI9;Q6UYC3;D6RAQ3;Q5TCI8;P02545;P02545-3;P02545-2	.;.;.;.;LMNA_HUMAN;.;.	H	296;296;296;296;296;296;296;184;215;197;215	ENSP00000357284:R296H;ENSP00000292304:R296H;ENSP00000355292:R296H;ENSP00000357283:R296H;ENSP00000357282:R296H;ENSP00000395597:R184H;ENSP00000357280:R215H;ENSP00000421821:R197H;ENSP00000376164:R215H	ENSP00000292302:R296H	R	+	2	0	LMNA	154371678	1.000000	0.71417	0.995000	0.50966	0.603000	0.37013	6.718000	0.74713	2.653000	0.90120	0.563000	0.77884	CGC		PASS	0.637	LMNA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039200.2	NM_170707		3	26	3	26	---	---	---	---
SH2D2A	9047	broad.mit.edu	37	1	156779583	156779583	+	Missense_Mutation	SNP	C	C	T			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr1:156779583C>T	ENST00000368199.3	-	6	737	c.584G>A	c.(583-585)gGa>gAa	p.G195E	SH2D2A_ENST00000368198.3_Missense_Mutation_p.G177E|SH2D2A_ENST00000392306.2_Missense_Mutation_p.G205E	NM_001161443.1|NM_001161444.1|NM_003975.3	NP_001154915.1|NP_001154916.1|NP_003966.2	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A	195	Pro-rich.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	SH3/SH2 adaptor activity (GO:0005070)	p.G205E(1)|p.G195E(1)		endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CAGGGAAAGTCCTGCAGGCTC	0.557																																						uc001fqd.2																			2	Substitution - Missense(2)		lung(2)		0						c.(583-585)GGA>GAA		SH2 domain protein 2A isoform 2							124.0	117.0	119.0					1																	156779583		2203	4300	6503	SO:0001583	missense	9047				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity	g.chr1:156779583C>T	AJ000553	CCDS1159.1, CCDS53380.1, CCDS53381.1	1q21	2013-02-14	2010-04-21		ENSG00000027869	ENSG00000027869		"""SH2 domain containing"""	10821	protein-coding gene	gene with protein product	"""T lymphocyte specific adaptor protein"", ""T cell specific adapter protein TSAd"", ""T cell specific adpater protein TSAd"""	604514	"""SH2 domain protein 2A"""			9468509	Standard	NM_003975		Approved	TSAd, F2771	uc009wsh.2	Q9NP31	OTTHUMG00000041305	ENST00000368199.3:c.584G>A	1.37:g.156779583C>T	ENSP00000357182:p.Gly195Glu					SH2D2A_uc001fqc.1_Missense_Mutation_p.G167E|SH2D2A_uc009wsh.2_Missense_Mutation_p.G205E|SH2D2A_uc001fqe.2_Missense_Mutation_p.G177E|SH2D2A_uc010phs.1_Missense_Mutation_p.G195E	p.G195E	NM_003975	NP_003966	Q9NP31	SH22A_HUMAN			6	724	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		195			Pro-rich.		O43817|Q5UBZ1|Q5VZS4|Q5VZS5|Q9UPA7	Missense_Mutation	SNP	ENST00000368199.3	37	c.584G>A	CCDS1159.1	.	.	.	.	.	.	.	.	.	.	C	13.89	2.372682	0.42003	.	.	ENSG00000027869	ENST00000368199;ENST00000368198;ENST00000392306	T;T;T	0.59083	0.32;0.29;0.79	4.13	4.13	0.48395	.	0.563350	0.17939	N	0.156920	T	0.54127	0.1839	L	0.34521	1.04	0.34293	D	0.683474	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.995	T	0.53982	-0.8361	10	0.37606	T	0.19	-14.3593	12.0605	0.53561	0.0:1.0:0.0:0.0	.	205;177;195	Q9NP31-2;Q5VZS4;Q9NP31	.;.;SH22A_HUMAN	E	195;177;205	ENSP00000357182:G195E;ENSP00000357181:G177E;ENSP00000376123:G205E	ENSP00000357181:G177E	G	-	2	0	SH2D2A	155046207	0.997000	0.39634	0.887000	0.34795	0.107000	0.19398	3.524000	0.53495	2.297000	0.77311	0.555000	0.69702	GGA		PASS	0.557	SH2D2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098982.1	NM_003975		12	118	12	118	---	---	---	---
FCRL5	83416	broad.mit.edu	37	1	157508921	157508921	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr1:157508921C>A	ENST00000361835.3	-	7	1514	c.1357G>T	c.(1357-1359)Ggc>Tgc	p.G453C	FCRL5_ENST00000368189.3_Missense_Mutation_p.G453C|FCRL5_ENST00000356953.4_Missense_Mutation_p.G453C|FCRL5_ENST00000368191.3_Missense_Mutation_p.G368C|FCRL5_ENST00000368190.3_Missense_Mutation_p.G453C	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	453	Ig-like C2-type 4.				negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)		p.G453C(2)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				GGGCCAAAGCCATTGTCAGCT	0.597																																						uc001fqu.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|breast(2)|central_nervous_system(1)	6						c.(1357-1359)GGC>TGC		Fc receptor-like 5							64.0	54.0	58.0					1																	157508921		2203	4300	6503	SO:0001583	missense	83416					integral to membrane|plasma membrane	receptor activity	g.chr1:157508921C>A	AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.1357G>T	1.37:g.157508921C>A	ENSP00000354691:p.Gly453Cys					FCRL5_uc009wsm.2_Missense_Mutation_p.G453C|FCRL5_uc010phv.1_Missense_Mutation_p.G453C|FCRL5_uc010phw.1_Missense_Mutation_p.G368C|FCRL5_uc001fqv.1_Missense_Mutation_p.G453C|FCRL5_uc010phx.1_Missense_Mutation_p.G204C	p.G453C	NM_031281	NP_112571	Q96RD9	FCRL5_HUMAN			7	1515	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)	453			Extracellular (Potential).|Ig-like C2-type 4.		A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Missense_Mutation	SNP	ENST00000361835.3	37	c.1357G>T	CCDS1165.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.952814	0.73787	.	.	ENSG00000143297	ENST00000361835;ENST00000356953;ENST00000368190;ENST00000368191;ENST00000368189	T;T;T;T;T	0.14022	2.54;2.54;2.54;2.54;2.54	3.17	3.17	0.36434	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.39759	0.1090	H	0.96996	3.92	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.996;1.0;0.973;1.0;1.0;1.0	T	0.54214	-0.8327	9	0.72032	D	0.01	.	9.9689	0.41741	0.0:1.0:0.0:0.0	.	484;368;453;453;453;453	B4DW39;F5GXJ2;Q96RD9-3;A6NJE8;Q96RD9-4;Q96RD9	.;.;.;.;.;FCRL5_HUMAN	C	453;453;453;368;453	ENSP00000354691:G453C;ENSP00000349434:G453C;ENSP00000357173:G453C;ENSP00000357174:G368C;ENSP00000357172:G453C	ENSP00000349434:G453C	G	-	1	0	FCRL5	155775545	0.932000	0.31603	0.874000	0.34290	0.625000	0.37756	2.060000	0.41394	1.782000	0.52362	0.462000	0.41574	GGC		PASS	0.597	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	NM_031281		4	42	4	42	---	---	---	---
FCRL2	79368	broad.mit.edu	37	1	157737267	157737267	+	Missense_Mutation	SNP	A	A	T			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr1:157737267A>T	ENST00000361516.3	-	6	964	c.916T>A	c.(916-918)Tct>Act	p.S306T	FCRL2_ENST00000392274.3_Missense_Mutation_p.S306T|FCRL2_ENST00000368181.4_Intron|FCRL2_ENST00000469986.1_Missense_Mutation_p.S53T	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	306	Ig-like C2-type 4.				cell-cell signaling (GO:0007267)|positive regulation of signal transduction (GO:0009967)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)	p.S306T(1)|p.S53T(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GCCCCAGGAGACCTGAGGGTG	0.537																																						uc001fre.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(916-918)TCT>ACT		Fc receptor-like 2 precursor							49.0	52.0	51.0					1																	157737267		2203	4300	6503	SO:0001583	missense	79368				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity	g.chr1:157737267A>T	AF319438	CCDS1168.1	1q23.1	2013-01-14	2002-01-14	2005-03-23	ENSG00000132704	ENSG00000132704		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14875	protein-coding gene	gene with protein product		606509	"""SH2 domain-containing phosphatase anchor protein 1"""	SPAP1		11162587	Standard	NM_030764		Approved	FCRH2, IRTA4, CD307b	uc001fre.2	Q96LA5	OTTHUMG00000019399	ENST00000361516.3:c.916T>A	1.37:g.157737267A>T	ENSP00000355157:p.Ser306Thr					FCRL2_uc001frd.2_Missense_Mutation_p.S53T|FCRL2_uc010phz.1_Missense_Mutation_p.S306T|FCRL2_uc009wsp.2_Intron	p.S306T	NM_030764	NP_110391	Q96LA5	FCRL2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		6	975	-	all_hematologic(112;0.0378)		306			Ig-like C2-type 4.|Extracellular (Potential).		A0N0M5|A1L307|A6NMS0|Q6NTA1|Q9BZI4|Q9BZI5|Q9BZI6	Missense_Mutation	SNP	ENST00000361516.3	37	c.916T>A	CCDS1168.1	.	.	.	.	.	.	.	.	.	.	A	8.494	0.862768	0.17178	.	.	ENSG00000132704	ENST00000361516;ENST00000392274;ENST00000469986	T;T;T	0.03301	3.98;3.98;3.98	3.8	1.86	0.25419	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.545720	0.04310	N	0.348843	T	0.00637	0.0021	N	0.05592	-0.015	0.09310	N	1	B;B;B	0.13145	0.002;0.005;0.007	B;B;B	0.17098	0.012;0.012;0.017	T	0.45190	-0.9278	10	0.16896	T	0.51	.	4.057	0.09821	0.2403:0.6353:0.0:0.1244	.	306;306;53	B4DVJ9;Q96LA5;Q96LA5-2	.;FCRL2_HUMAN;.	T	306;306;53	ENSP00000355157:S306T;ENSP00000376100:S306T;ENSP00000417393:S53T	ENSP00000355157:S306T	S	-	1	0	FCRL2	156003891	0.000000	0.05858	0.008000	0.14137	0.068000	0.16541	-0.845000	0.04340	0.906000	0.36621	-0.254000	0.11334	TCT		PASS	0.537	FCRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051408.2	NM_030764		12	56	12	56	---	---	---	---
CD1B	910	broad.mit.edu	37	1	158300799	158300799	+	Missense_Mutation	SNP	T	T	C			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr1:158300799T>C	ENST00000368168.3	-	2	222	c.115A>G	c.(115-117)Agt>Ggt	p.S39G		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	39					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	cell surface (GO:0009986)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)		p.S39G(1)		breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					GCCCAGGTACTATTGGTAAAG	0.502																																						uc001frx.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(115-117)AGT>GGT		CD1B antigen precursor							248.0	236.0	240.0					1																	158300799		2203	4300	6503	SO:0001583	missense	910				antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding	g.chr1:158300799T>C	M28826	CCDS1176.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158485	ENSG00000158485		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1635	protein-coding gene	gene with protein product		188360	"""CD1B antigen, b polypeptide"", ""CD1b antigen"""	CD1		2447586	Standard	NM_001764		Approved		uc001frx.3	P29016	OTTHUMG00000017513	ENST00000368168.3:c.115A>G	1.37:g.158300799T>C	ENSP00000357150:p.Ser39Gly					CD1B_uc001frw.2_Translation_Start_Site|CD1B_uc010pic.1_Missense_Mutation_p.S39G	p.S39G	NM_001764	NP_001755	P29016	CD1B_HUMAN			2	223	-	all_hematologic(112;0.0378)		39			Extracellular (Potential).		Q5TDK9|Q5TDL0|Q9UMM2	Missense_Mutation	SNP	ENST00000368168.3	37	c.115A>G	CCDS1176.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	2.865|2.865	-0.235300|-0.235300	0.05983|0.05983	.|.	.|.	ENSG00000158485|ENSG00000158485	ENST00000368168|ENST00000451207	T|.	0.07114|.	3.22|.	4.15|4.15	0.0469|0.0469	0.14278|0.14278	MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);|.	0.000000|.	0.49916|.	D|.	0.000125|.	T|.	0.25938|.	0.0632|.	M|M	0.78223|0.78223	2.4|2.4	0.09310|0.09310	N|N	1|1	B;B|.	0.28026|.	0.198;0.003|.	B;B|.	0.30179|.	0.112;0.003|.	T|.	0.38222|.	-0.9671|.	10|.	0.45353|.	T|.	0.12|.	-7.0404|-7.0404	1.0377|1.0377	0.01552|0.01552	0.1891:0.1089:0.1955:0.5065|0.1891:0.1089:0.1955:0.5065	.|.	39;39|.	B4E0D2;P29016|.	.;CD1B_HUMAN|.	G|W	39|6	ENSP00000357150:S39G|.	ENSP00000357150:S39G|.	S|X	-|-	1|2	0|0	CD1B|CD1B	156567423|156567423	0.039000|0.039000	0.19947|0.19947	0.171000|0.171000	0.22900|0.22900	0.496000|0.496000	0.33645|0.33645	0.060000|0.060000	0.14342|0.14342	0.223000|0.223000	0.20920|0.20920	0.533000|0.533000	0.62120|0.62120	AGT|TAG		PASS	0.502	CD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046350.2	NM_001764		56	165	56	165	---	---	---	---
SPTA1	6708	broad.mit.edu	37	1	158627340	158627340	+	Missense_Mutation	SNP	G	G	C			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr1:158627340G>C	ENST00000368147.4	-	19	2912	c.2732C>G	c.(2731-2733)gCa>gGa	p.A911G		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	911					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.A911G(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)					CCATGTTTCTGCTTCATGCAG	0.473																																						uc001fst.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(2731-2733)GCA>GGA		spectrin, alpha, erythrocytic 1							167.0	167.0	167.0					1																	158627340		2003	4190	6193	SO:0001583	missense	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.chr1:158627340G>C	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.2732C>G	1.37:g.158627340G>C	ENSP00000357129:p.Ala911Gly						p.A911G	NM_003126	NP_003117	P02549	SPTA1_HUMAN			19	2931	-	all_hematologic(112;0.0378)		911			Spectrin 10.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.2732C>G	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.666952	0.88251	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.52057	0.68;0.68	4.68	4.68	0.58851	.	0.000000	0.32120	N	0.006559	T	0.72170	0.3427	M	0.92169	3.28	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	T	0.79713	-0.1688	10	0.87932	D	0	.	16.6727	0.85271	0.0:0.0:1.0:0.0	.	911	P02549	SPTA1_HUMAN	G	911	ENSP00000357130:A911G;ENSP00000357129:A911G	ENSP00000357129:A911G	A	-	2	0	SPTA1	156893964	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.424000	0.90267	2.569000	0.86673	0.655000	0.94253	GCA		PASS	0.473	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		23	115	23	115	---	---	---	---
PYHIN1	149628	broad.mit.edu	37	1	158908926	158908927	+	Nonsense_Mutation	DNP	AG	AG	TT			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr1:158908926_158908927AG>TT	ENST00000368140.1	+	4	713_714	c.468_469AG>TT	c.(466-471)aaAGag>aaTTag	p.156_157KE>N*	PYHIN1_ENST00000368138.3_Nonsense_Mutation_p.147_148KE>N*|PYHIN1_ENST00000392254.2_Nonsense_Mutation_p.156_157KE>N*|PYHIN1_ENST00000368135.4_Nonsense_Mutation_p.156_157KE>N*|PYHIN1_ENST00000392252.3_Nonsense_Mutation_p.147_148KE>N*	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	156					cell cycle (GO:0007049)	nucleus (GO:0005634)		p.K156_E157>N*(1)|p.E157*(1)|p.K156N(1)		breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					AGATGTCCAAAGAGCAGACTCG	0.47																																						uc001ftb.2																			3	Substitution - Missense(1)|Substitution - Nonsense(1)|Complex - compound substitution(1)		lung(3)	ovary(3)|pancreas(1)	4						c.(466-468)AAA>AAT|c.(469-471)GAG>TAG		pyrin and HIN domain family, member 1 alpha 1																																				SO:0001587	stop_gained	149628				cell cycle	nuclear speck		g.chr1:158908926A>T|g.chr1:158908927G>T	AY185344	CCDS1178.1, CCDS1179.1, CCDS30907.1, CCDS30908.1	1q23.1	2008-02-05			ENSG00000163564	ENSG00000163564			28894	protein-coding gene	gene with protein product		612677				15122330	Standard	NM_152501		Approved	IFIX, MGC23885	uc001ftb.3	Q6K0P9	OTTHUMG00000037109	Exception_encountered	1.37:g.158908926_158908927delinsTT	ENSP00000357122:p.K156_E157delinsN*					PYHIN1_uc001fta.3_Missense_Mutation_p.K156N|PYHIN1_uc001ftc.2_Missense_Mutation_p.K147N|PYHIN1_uc001ftd.2_Missense_Mutation_p.K156N|PYHIN1_uc001fte.2_Missense_Mutation_p.K147N|PYHIN1_uc001fta.3_Nonsense_Mutation_p.E157*|PYHIN1_uc001ftc.2_Nonsense_Mutation_p.E148*|PYHIN1_uc001ftd.2_Nonsense_Mutation_p.E157*|PYHIN1_uc001fte.2_Nonsense_Mutation_p.E148*	p.K156N|p.E157*	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN			4	713|714	+	all_hematologic(112;0.0378)		156|157					Q5T3W6|Q6K0P6|Q6K0P7|Q6K0P8|Q8WW65	Missense_Mutation|Nonsense_Mutation	SNP	ENST00000368140.1	37	c.468A>T|c.469G>T	CCDS1178.1																																																																																				PASS	0.470	PYHIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090110.1	NM_152501		13|12	49|48	12	48	---	---	---	---
ATP1A4	480	broad.mit.edu	37	1	160137139	160137139	+	Silent	SNP	G	G	A	rs141489030		TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr1:160137139G>A	ENST00000368081.4	+	10	1899	c.1428G>A	c.(1426-1428)gcG>gcA	p.A476A		NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	476					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)	p.A476A(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GCTCTGTGGCGGAGATGAGAG	0.517													G|||	1	0.000199681	0.0	0.0	5008	,	,		18385	0.0		0.001	False		,,,				2504	0.0					uc001fve.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)	4						c.(1426-1428)GCG>GCA		Na+/K+ -ATPase alpha 4 subunit isoform 1		G		3,4403	6.2+/-15.9	0,3,2200	109.0	108.0	108.0		1428	-1.1	1.0	1	dbSNP_134	108	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ATP1A4	NM_144699.3		0,4,6499	AA,AG,GG		0.0116,0.0681,0.0308		476/1030	160137139	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	480				ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160137139G>A	BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"""ATPases / P-type"""	14073	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-4"", ""sodium pump subunit alpha-4"", ""sodium-potassium ATPase catalytic subunit alpha-4"""	607321	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 2"""	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.1428G>A	1.37:g.160137139G>A						ATP1A4_uc001fvf.3_RNA|ATP1A4_uc001fvg.2_5'UTR	p.A476A	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		10	1907	+	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		476			Cytoplasmic (Potential).		Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Silent	SNP	ENST00000368081.4	37	c.1428G>A	CCDS1197.1																																																																																				PASS	0.517	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077415.1	NM_144699		5	128	5	128	---	---	---	---
COPA	1314	broad.mit.edu	37	1	160262293	160262293	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr1:160262293C>A	ENST00000241704.7	-	28	3170	c.2941G>T	c.(2941-2943)Ggc>Tgc	p.G981C	COPA_ENST00000368069.3_Missense_Mutation_p.G990C	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	981					COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	structural molecule activity (GO:0005198)	p.G981C(1)|p.G990C(1)		central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TTAGGATAGCCATACATGGAG	0.502																																						uc009wti.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(2941-2943)GGC>TGC		coatomer protein complex, subunit alpha isoform							162.0	148.0	153.0					1																	160262293		2203	4300	6503	SO:0001583	missense	1314				COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity	g.chr1:160262293C>A	U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218		"""WD repeat domain containing"", ""Endogenous ligands"""	2230	protein-coding gene	gene with protein product	"""proxenin"", ""xenin"""	601924				8647451	Standard	NM_004371		Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.2941G>T	1.37:g.160262293C>A	ENSP00000241704:p.Gly981Cys					COPA_uc001fvv.3_Missense_Mutation_p.G990C	p.G981C	NM_004371	NP_004362	P53621	COPA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		28	3335	-	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		981					Q5T201|Q8IXZ9	Missense_Mutation	SNP	ENST00000241704.7	37	c.2941G>T	CCDS1202.1	.	.	.	.	.	.	.	.	.	.	C	18.40	3.614723	0.66672	.	.	ENSG00000122218	ENST00000368069;ENST00000241704	T;T	0.44083	0.93;0.93	6.17	1.64	0.23874	Coatomer, alpha subunit, C-terminal (1);	0.287586	0.45126	D	0.000382	T	0.44095	0.1277	M	0.77313	2.365	0.47584	D	0.999464	D;D	0.71674	0.998;0.998	P;P	0.60789	0.872;0.879	T	0.40327	-0.9569	10	0.38643	T	0.18	-2.1781	9.2519	0.37560	0.0:0.659:0.0:0.341	.	981;990	P53621;P53621-2	COPA_HUMAN;.	C	990;981	ENSP00000357048:G990C;ENSP00000241704:G981C	ENSP00000241704:G981C	G	-	1	0	COPA	158528917	0.992000	0.36948	0.996000	0.52242	0.976000	0.68499	1.472000	0.35376	0.296000	0.22592	0.655000	0.94253	GGC		PASS	0.502	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080638.1	NM_004371		6	95	6	95	---	---	---	---
NCSTN	23385	broad.mit.edu	37	1	160314557	160314557	+	Nonsense_Mutation	SNP	T	T	A			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr1:160314557T>A	ENST00000294785.5	+	2	256	c.131T>A	c.(130-132)tTa>tAa	p.L44*	NCSTN_ENST00000368063.1_Nonsense_Mutation_p.L24*|NCSTN_ENST00000392212.4_Nonsense_Mutation_p.L24*|COPA_ENST00000241704.7_5'Flank|COPA_ENST00000368069.3_5'Flank|NCSTN_ENST00000535857.1_Nonsense_Mutation_p.L44*	NM_015331.2	NP_056146.1	Q92542	NICA_HUMAN	nicastrin	44					amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|beta-amyloid metabolic process (GO:0050435)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|myeloid cell homeostasis (GO:0002262)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)|proteolysis (GO:0006508)|T cell proliferation (GO:0042098)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)	p.L44*(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TATATCCCCTTAAATAAAACA	0.428																																						uc001fvx.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|lung(1)	2						c.(130-132)TTA>TAA		nicastrin precursor							89.0	83.0	85.0					1																	160314557		2203	4300	6503	SO:0001587	stop_gained	23385				amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome	protein binding	g.chr1:160314557T>A	AF240468	CCDS1203.1	1q22-q23	2014-09-17			ENSG00000162736	ENSG00000162736			17091	protein-coding gene	gene with protein product		605254				9039502, 10993067	Standard	XM_005245053		Approved	KIAA0253, APH2	uc001fvx.3	Q92542	OTTHUMG00000033110	ENST00000294785.5:c.131T>A	1.37:g.160314557T>A	ENSP00000294785:p.Leu44*					COPA_uc009wti.2_5'Flank|COPA_uc001fvv.3_5'Flank|COPA_uc009wtj.1_5'Flank|NCSTN_uc009wtk.1_RNA|NCSTN_uc001fvy.2_Nonsense_Mutation_p.L24*|NCSTN_uc010pjf.1_Nonsense_Mutation_p.L44*	p.L44*	NM_015331	NP_056146	Q92542	NICA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		2	255	+	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		44			Extracellular (Potential).		Q5T207|Q5T208|Q86VV5	Nonsense_Mutation	SNP	ENST00000294785.5	37	c.131T>A	CCDS1203.1	.	.	.	.	.	.	.	.	.	.	T	36	5.773324	0.96922	.	.	ENSG00000162736	ENST00000294785;ENST00000368063;ENST00000437169;ENST00000421914;ENST00000535857;ENST00000438008;ENST00000392212	.	.	.	4.59	4.59	0.56863	.	0.000000	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.4422	11.4581	0.50193	0.0:0.0:0.0:1.0	.	.	.	.	X	44;24;44;44;44;77;24	.	ENSP00000294785:L44X	L	+	2	0	NCSTN	158581181	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.635000	0.74295	1.918000	0.55548	0.455000	0.32223	TTA		PASS	0.428	NCSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080622.1	NM_015331		4	47	4	47	---	---	---	---
TNN	63923	broad.mit.edu	37	1	175046900	175046900	+	Missense_Mutation	SNP	G	G	A			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr1:175046900G>A	ENST00000239462.4	+	2	459	c.346G>A	c.(346-348)Gag>Aag	p.E116K		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	116					axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)		p.E116K(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GAAGAAGCTGGAGGAAGAGAT	0.552																																						uc001gkl.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(5)|ovary(3)|central_nervous_system(1)	9						c.(346-348)GAG>AAG		tenascin N precursor							56.0	59.0	58.0					1																	175046900		2203	4300	6503	SO:0001583	missense	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175046900G>A	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.346G>A	1.37:g.175046900G>A	ENSP00000239462:p.Glu116Lys					TNN_uc010pmx.1_Missense_Mutation_p.E116K	p.E116K	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	2	459	+		Breast(1374;0.000962)	116					B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	37	c.346G>A	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	G	34	5.317913	0.95682	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.49720	0.77	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.68247	0.2980	M	0.64404	1.975	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.70245	-0.4925	10	0.87932	D	0	.	19.0266	0.92934	0.0:0.0:1.0:0.0	.	116;116	B3KXB6;Q9UQP3	.;TENN_HUMAN	K	116	ENSP00000239462:E116K	ENSP00000239462:E116K	E	+	1	0	TNN	173313523	1.000000	0.71417	1.000000	0.80357	0.739000	0.42172	7.397000	0.79903	2.600000	0.87896	0.655000	0.94253	GAG		PASS	0.552	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		3	17	3	17	---	---	---	---
ASTN1	460	broad.mit.edu	37	1	176838058	176838058	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr1:176838058C>A	ENST00000367654.3	-	22	3804	c.3593G>T	c.(3592-3594)cGg>cTg	p.R1198L	ASTN1_ENST00000424564.2_Missense_Mutation_p.R1190L|ASTN1_ENST00000367657.3_Missense_Mutation_p.R1190L|ASTN1_ENST00000361833.2_Missense_Mutation_p.R1190L	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	1198					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)		p.R1190L(2)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GTAGAGGACCCGGTGTAAGGT	0.498																																						uc001glc.2																			2	Substitution - Missense(2)		lung(2)	ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						c.(3568-3570)CGG>CTG		astrotactin isoform 1							154.0	145.0	148.0					1																	176838058		2203	4300	6503	SO:0001583	missense	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176838058C>A	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.3593G>T	1.37:g.176838058C>A	ENSP00000356626:p.Arg1198Leu					ASTN1_uc001glb.1_Missense_Mutation_p.R1190L|ASTN1_uc001gld.1_Missense_Mutation_p.R1190L	p.R1190L	NM_004319	NP_004310	O14525	ASTN1_HUMAN			22	3781	-			1198					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37	c.3569G>T		.	.	.	.	.	.	.	.	.	.	C	24.0	4.483520	0.84854	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.18810	2.19;2.6;2.6;2.19	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.46014	0.1371	L	0.58101	1.795	0.80722	D	1	D;D	0.71674	0.998;0.996	D;D	0.80764	0.994;0.992	T	0.30822	-0.9965	10	0.72032	D	0.01	-12.764	19.4429	0.94831	0.0:1.0:0.0:0.0	.	1190;1190	O14525-2;B1AJS1	.;.	L	1190;1190;1198;1190;1190	ENSP00000356629:R1190L;ENSP00000354536:R1190L;ENSP00000356626:R1198L;ENSP00000395041:R1190L	ENSP00000354536:R1190L	R	-	2	0	ASTN1	175104681	1.000000	0.71417	0.990000	0.47175	0.266000	0.26442	7.679000	0.84048	2.698000	0.92095	0.655000	0.94253	CGG		PASS	0.498	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		11	52	11	52	---	---	---	---
BRINP2	57795	broad.mit.edu	37	1	177250530	177250530	+	Missense_Mutation	SNP	C	C	A	rs147964469		TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr1:177250530C>A	ENST00000361539.4	+	8	2530	c.2218C>A	c.(2218-2220)Ctt>Att	p.L740I	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	740					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	extracellular region (GO:0005576)		p.L740I(1)									CCGACTTGACCTTTTCTCCTG	0.552													C|||	1	0.000199681	0.0	0.0	5008	,	,		18130	0.001		0.0	False		,,,				2504	0.0					uc001glf.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6						c.(2218-2220)CTT>ATT		family with sequence similarity 5, member B							91.0	82.0	85.0					1																	177250530		2203	4300	6503	SO:0001583	missense	57795					extracellular region		g.chr1:177250530C>A		CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member B"""	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.2218C>A	1.37:g.177250530C>A	ENSP00000354481:p.Leu740Ile					FAM5B_uc001glg.2_Missense_Mutation_p.L635I	p.L740I	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN			8	2530	+			740					O95560|Q6ZWC1|Q7LCZ9|Q8N360	Missense_Mutation	SNP	ENST00000361539.4	37	c.2218C>A	CCDS1320.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	18.88	3.718336	0.68844	.	.	ENSG00000198797	ENST00000536589;ENST00000361539	T	0.22539	1.95	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.47060	0.1425	M	0.69823	2.125	0.80722	D	1	D;D	0.76494	0.999;0.993	D;D	0.87578	0.998;0.987	T	0.37686	-0.9695	10	0.39692	T	0.17	-11.5568	17.9969	0.89187	0.0:1.0:0.0:0.0	.	635;740	Q9C0B6-2;Q9C0B6	.;FAM5B_HUMAN	I	493;740	ENSP00000354481:L740I	ENSP00000354481:L740I	L	+	1	0	FAM5B	175517153	1.000000	0.71417	0.965000	0.40720	0.985000	0.73830	7.711000	0.84669	2.346000	0.79739	0.313000	0.20887	CTT		PASS	0.552	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084599.1	NM_021165		5	51	5	51	---	---	---	---
DHX9	1660	broad.mit.edu	37	1	182812436	182812436	+	Missense_Mutation	SNP	T	T	G			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr1:182812436T>G	ENST00000367549.3	+	3	229	c.119T>G	c.(118-120)gTg>gGg	p.V40G		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	40	DRBM 1. {ECO:0000255|PROSITE- ProRule:PRU00266}.|Interaction with CREBBP.				ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)	p.V40G(8)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						AAGGTTCAGGTGGAAGGTTAT	0.333																																					Colon(69;210 1162 3697 13559 39565)	uc001gpr.2																			8	Substitution - Missense(8)		lung(5)|endometrium(1)|kidney(1)|central_nervous_system(1)	ovary(2)	2						c.(118-120)GTG>GGG		DEAH (Asp-Glu-Ala-His) box polypeptide 9							54.0	51.0	52.0					1																	182812436		1803	4059	5862	SO:0001583	missense	1660				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding	g.chr1:182812436T>G	L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829		"""DEAH-boxes"""	2750	protein-coding gene	gene with protein product	"""NDH II"", ""RNA helicase A"""	603115	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin)"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 9"""	LKP, DDX9		8344961, 9111062	Standard	NM_001357		Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.119T>G	1.37:g.182812436T>G	ENSP00000356520:p.Val40Gly					DHX9_uc001gps.2_5'UTR	p.V40G	NM_001357	NP_001348	Q08211	DHX9_HUMAN			3	282	+			40			DRBM 1.|Interaction with CREBBP.		B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Missense_Mutation	SNP	ENST00000367549.3	37	c.119T>G	CCDS41444.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.303744	0.81136	.	.	ENSG00000135829	ENST00000399175;ENST00000367549	D	0.81996	-1.56	5.63	5.63	0.86233	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.93255	0.7851	M	0.94142	3.5	0.80722	D	1	D	0.67145	0.996	D	0.70716	0.97	D	0.94934	0.8085	10	0.87932	D	0	.	15.1117	0.72362	0.0:0.0:0.0:1.0	.	40	Q08211	DHX9_HUMAN	G	40	ENSP00000356520:V40G	ENSP00000356520:V40G	V	+	2	0	DHX9	181079059	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	7.285000	0.78660	2.263000	0.75096	0.533000	0.62120	GTG		PASS	0.333	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085522.2	NM_030588		6	25	6	25	---	---	---	---
TPR	7175	broad.mit.edu	37	1	186304493	186304493	+	Missense_Mutation	SNP	C	C	T			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr1:186304493C>T	ENST00000367478.4	-	34	5184	c.4888G>A	c.(4888-4890)Gag>Aag	p.E1630K		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1630					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)	p.E1631K(1)|p.E1630K(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TCTTGAGGCTCATCTCTCTGC	0.393			T	NTRK1	papillary thyroid																																	uc001grv.2				Dom	yes		1	1q25	7175	T	translocated promoter region			E	NTRK1		papillary thyroid		2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7						c.(4888-4890)GAG>AAG		nuclear pore complex-associated protein TPR							137.0	123.0	128.0					1																	186304493		1886	4125	6011	SO:0001583	missense	7175				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	g.chr1:186304493C>T	U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.4888G>A	1.37:g.186304493C>T	ENSP00000356448:p.Glu1630Lys						p.E1630K	NM_003292	NP_003283	P12270	TPR_HUMAN		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)	34	5185	-		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)	1630			Potential.		Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	ENST00000367478.4	37	c.4888G>A	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	C	36	5.645335	0.96704	.	.	ENSG00000047410	ENST00000367478	T	0.26518	1.73	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.50888	0.1642	M	0.71581	2.175	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	T	0.43212	-0.9405	10	0.33940	T	0.23	.	18.8209	0.92097	0.0:1.0:0.0:0.0	.	1630	P12270	TPR_HUMAN	K	1630	ENSP00000356448:E1630K	ENSP00000356448:E1630K	E	-	1	0	TPR	184571116	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.136000	0.77285	2.510000	0.84645	0.650000	0.86243	GAG		PASS	0.393	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292		8	92	8	92	---	---	---	---
BRINP3	339479	broad.mit.edu	37	1	190067166	190067166	+	Silent	SNP	C	C	G			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr1:190067166C>G	ENST00000367462.3	-	8	2514	c.2283G>C	c.(2281-2283)acG>acC	p.T761T	BRINP3_ENST00000534846.1_Silent_p.T659T	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	761					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)		p.T761T(1)									ATAATTTGGTCGTGTCATAAT	0.393																																						uc001gse.1																			1	Substitution - coding silent(1)		lung(1)	lung(2)|ovary(1)|kidney(1)|skin(1)	5						c.(2281-2283)ACG>ACC		family with sequence similarity 5, member C							149.0	148.0	148.0					1																	190067166		2203	4300	6503	SO:0001819	synonymous_variant	339479					extracellular region		g.chr1:190067166C>G	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.2283G>C	1.37:g.190067166C>G						FAM5C_uc010pot.1_Silent_p.T659T	p.T761T	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN			8	2515	-	Prostate(682;0.198)		761					B3KVP1|B7Z260|O95726|Q2M330	Silent	SNP	ENST00000367462.3	37	c.2283G>C	CCDS1373.1																																																																																				PASS	0.393	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		23	110	23	110	---	---	---	---
UCHL5	51377	broad.mit.edu	37	1	192998516	192998516	+	Splice_Site	SNP	A	A	T			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr1:192998516A>T	ENST00000367455.4	-	5	670		c.e5+1		UCHL5_ENST00000367448.1_Splice_Site|UCHL5_ENST00000367452.4_Splice_Site|UCHL5_ENST00000367454.1_Splice_Site|UCHL5_ENST00000367449.1_Splice_Site|UCHL5_ENST00000530098.2_Splice_Site|UCHL5_ENST00000367451.4_Splice_Site	NM_001199261.1|NM_015984.3	NP_001186190.1|NP_057068.1	Q9Y5K5	UCHL5_HUMAN	ubiquitin carboxyl-terminal hydrolase L5						DNA recombination (GO:0006310)|DNA repair (GO:0006281)|forebrain morphogenesis (GO:0048853)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein deubiquitination (GO:0016579)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|Ino80 complex (GO:0031011)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	endopeptidase inhibitor activity (GO:0004866)|omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|proteasome binding (GO:0070628)|ubiquitin-specific protease activity (GO:0004843)	p.?(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(1)|lung(9)|ovary(1)	19						AAGTCTCTTTACCTGGCGAAA	0.299																																						uc001gsm.2																			1	Unknown(1)		lung(1)	lung(2)|ovary(1)	3						c.e5+1		ubiquitin carboxyl-terminal hydrolase L5							76.0	80.0	79.0					1																	192998516		2200	4300	6500	SO:0001630	splice_region_variant	51377				DNA recombination|DNA repair|protein deubiquitination|regulation of proteasomal protein catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytosol|Ino80 complex|proteasome complex	endopeptidase inhibitor activity|omega peptidase activity|proteasome binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr1:192998516A>T		CCDS1378.1, CCDS55668.1, CCDS55669.1, CCDS55670.1	1q32	2011-07-06			ENSG00000116750	ENSG00000116750		"""INO80 complex subunits"""	19678	protein-coding gene	gene with protein product	"""INO80 complex subunit R"""	610667				10810093, 16027725	Standard	NM_015984		Approved	UCH37, CGI-70, INO80R	uc001gsm.3	Q9Y5K5	OTTHUMG00000035561	ENST00000367455.4:c.434+1T>A	1.37:g.192998516A>T						UCHL5_uc001gsn.2_Splice_Site|UCHL5_uc001gso.2_Splice_Site_p.R145_splice|UCHL5_uc010pov.1_Intron|UCHL5_uc001gsp.2_Splice_Site_p.R145_splice|UCHL5_uc001gsq.2_Splice_Site_p.R145_splice|UCHL5_uc010pow.1_Splice_Site_p.R21_splice|UCHL5_uc010pox.1_Splice_Site_p.R21_splice	p.R145_splice	NM_015984	NP_057068	Q9Y5K5	UCHL5_HUMAN			5	565	-								Q5LJA6|Q5LJA7|Q8TBS4|Q96BJ9|Q9H1W5|Q9P0I3|Q9UQN2	Splice_Site	SNP	ENST00000367455.4	37	c.434_splice	CCDS1378.1	.	.	.	.	.	.	.	.	.	.	A	17.74	3.463051	0.63513	.	.	ENSG00000116750	ENST00000420791;ENST00000367455;ENST00000367454;ENST00000367450;ENST00000367451;ENST00000367448;ENST00000367449;ENST00000367452;ENST00000530098;ENST00000391991;ENST00000421683	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.607	0.76682	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	UCHL5	191265139	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	5.358000	0.66064	2.149000	0.67028	0.383000	0.25322	.		PASS	0.299	UCHL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086318.3	NM_015984	Intron	9	31	9	31	---	---	---	---
CRB1	23418	broad.mit.edu	37	1	197390837	197390837	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr1:197390837C>A	ENST00000367400.3	+	6	2014	c.1879C>A	c.(1879-1881)Ctg>Atg	p.L627M	CRB1_ENST00000538660.1_Missense_Mutation_p.L627M|CRB1_ENST00000544212.1_Missense_Mutation_p.L108M|CRB1_ENST00000535699.1_Missense_Mutation_p.L558M|CRB1_ENST00000367399.2_Missense_Mutation_p.L515M|CRB1_ENST00000367397.1_Missense_Mutation_p.L8M|CRB1_ENST00000543483.1_Intron	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	627	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L627M(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TGGTGTTGCTCTGCTTAACTT	0.418																																						uc001gtz.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(3)|large_intestine(1)	9						c.(1879-1881)CTG>ATG		crumbs homolog 1 precursor							154.0	141.0	145.0					1																	197390837		2203	4300	6503	SO:0001583	missense	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197390837C>A		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.1879C>A	1.37:g.197390837C>A	ENSP00000356370:p.Leu627Met					CRB1_uc010poz.1_Missense_Mutation_p.L558M|CRB1_uc010ppa.1_Intron|CRB1_uc009wza.2_Missense_Mutation_p.L515M|CRB1_uc010ppb.1_Missense_Mutation_p.L627M|CRB1_uc010ppc.1_Intron|CRB1_uc010ppd.1_Missense_Mutation_p.L108M|CRB1_uc001gub.1_Missense_Mutation_p.L276M	p.L627M	NM_201253	NP_957705	P82279	CRUM1_HUMAN			6	2014	+			627			Extracellular (Potential).|Laminin G-like 1.		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	c.1879C>A	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	C	10.10	1.258721	0.23051	.	.	ENSG00000134376	ENST00000535699;ENST00000538660;ENST00000367400;ENST00000367399;ENST00000544212;ENST00000367397;ENST00000367401	T;T;T;T;T;D	0.87256	-1.19;-1.19;-1.19;-1.19;-1.19;-2.23	5.96	4.07	0.47477	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	D	0.91666	0.7366	M	0.76574	2.34	0.09310	N	1	D;D;D;D;D	0.69078	0.966;0.984;0.991;0.98;0.997	P;P;D;P;D	0.65874	0.833;0.805;0.914;0.8;0.939	T	0.83174	-0.0092	9	0.51188	T	0.08	.	9.9504	0.41636	0.0:0.7838:0.1433:0.0728	.	627;558;515;276;627	B7Z5T2;F5H0L2;P82279-3;P82279-4;P82279	.;.;.;.;CRUM1_HUMAN	M	558;627;627;515;108;8;276	ENSP00000438786:L558M;ENSP00000438091:L627M;ENSP00000356370:L627M;ENSP00000356369:L515M;ENSP00000444556:L108M;ENSP00000356367:L8M	ENSP00000356367:L8M	L	+	1	2	CRB1	195657460	0.000000	0.05858	0.001000	0.08648	0.020000	0.10135	0.208000	0.17415	0.834000	0.34852	0.650000	0.86243	CTG		PASS	0.418	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		7	124	7	124	---	---	---	---
CACNA1S	779	broad.mit.edu	37	1	201021734	201021734	+	Silent	SNP	G	G	T			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr1:201021734G>T	ENST00000362061.3	-	32	4130	c.3904C>A	c.(3904-3906)Cgg>Agg	p.R1302R	CACNA1S_ENST00000367338.3_Silent_p.R1283R	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1302					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.R1302R(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TTGTTGTTCCGGTTTATTTGG	0.557																																						uc001gvv.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(1)|skin(1)	5						c.(3904-3906)CGG>AGG		calcium channel, voltage-dependent, L type,	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						277.0	238.0	251.0					1																	201021734		2203	4300	6503	SO:0001819	synonymous_variant	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201021734G>T	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.3904C>A	1.37:g.201021734G>T							p.R1302R	NM_000069	NP_000060	Q13698	CAC1S_HUMAN			32	4131	-			1302			Extracellular (Potential).|IV.		A4IF51|B1ALM2|Q12896|Q13934	Silent	SNP	ENST00000362061.3	37	c.3904C>A	CCDS1407.1																																																																																				PASS	0.557	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		13	59	13	59	---	---	---	---
ATP2B4	493	broad.mit.edu	37	1	203678504	203678504	+	Missense_Mutation	SNP	G	G	A			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr1:203678504G>A	ENST00000357681.5	+	11	2756	c.1633G>A	c.(1633-1635)Gat>Aat	p.D545N	ATP2B4_ENST00000367219.3_Missense_Mutation_p.D533N|ATP2B4_ENST00000341360.2_Missense_Mutation_p.D545N|ATP2B4_ENST00000391954.2_Missense_Mutation_p.D545N|ATP2B4_ENST00000367218.3_Missense_Mutation_p.D545N	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	545					blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)	p.D545N(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CTTTGTCACAGATCTGAAGCA	0.532																																						uc001gzw.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(1633-1635)GAT>AAT		plasma membrane calcium ATPase 4 isoform 4b							101.0	90.0	94.0					1																	203678504		2203	4300	6503	SO:0001583	missense	493				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	g.chr1:203678504G>A	M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"""ATPases / P-type"""	817	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 4"""	108732	"""matrix-remodelling associated 1"""	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000357681.5:c.1633G>A	1.37:g.203678504G>A	ENSP00000350310:p.Asp545Asn					ATP2B4_uc001gzv.2_Missense_Mutation_p.D545N|ATP2B4_uc009xaq.2_Missense_Mutation_p.D545N	p.D545N	NM_001684	NP_001675	P23634	AT2B4_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		11	2517	+	all_cancers(21;0.071)|all_epithelial(62;0.228)		545			Cytoplasmic (Potential).		B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Missense_Mutation	SNP	ENST00000357681.5	37	c.1633G>A	CCDS1440.1	.	.	.	.	.	.	.	.	.	.	G	17.09	3.299509	0.60195	.	.	ENSG00000058668	ENST00000357681;ENST00000367218;ENST00000367219;ENST00000391954;ENST00000341360	D;D;D;D;D	0.95949	-3.86;-3.86;-3.86;-3.86;-3.86	5.52	3.58	0.41010	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.226341	0.31268	N	0.007947	D	0.91623	0.7353	L	0.35644	1.08	0.49915	D	0.999832	B;B;B	0.14438	0.01;0.005;0.003	B;B;B	0.21546	0.016;0.035;0.007	D	0.88499	0.3081	10	0.51188	T	0.08	-27.3651	10.7625	0.46272	0.072:0.1316:0.7964:0.0	.	545;545;545	P23634;P23634-6;B1APW5	AT2B4_HUMAN;.;.	N	545;545;533;545;545	ENSP00000350310:D545N;ENSP00000356187:D545N;ENSP00000356188:D533N;ENSP00000375816:D545N;ENSP00000340930:D545N	ENSP00000340930:D545N	D	+	1	0	ATP2B4	201945127	1.000000	0.71417	0.768000	0.31515	0.748000	0.42578	5.735000	0.68587	1.332000	0.45431	0.563000	0.77884	GAT		PASS	0.532	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087462.1	NM_001001396		11	70	11	70	---	---	---	---
OR2M2	391194	broad.mit.edu	37	1	248343741	248343741	+	Missense_Mutation	SNP	G	G	A			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr1:248343741G>A	ENST00000359682.2	+	1	454	c.454G>A	c.(454-456)Ggc>Agc	p.G152S		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	152						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G152S(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CTGGATCCTGGGCTCTACAGA	0.443																																						uc010pzf.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(454-456)GGC>AGC		olfactory receptor, family 2, subfamily M,							180.0	185.0	183.0					1																	248343741		2203	4300	6503	SO:0001583	missense	391194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248343741G>A	AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601		"""GPCR / Class A : Olfactory receptors"""	8268	protein-coding gene	gene with protein product						12213199	Standard	NM_001004688		Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	ENST00000359682.2:c.454G>A	1.37:g.248343741G>A	ENSP00000352710:p.Gly152Ser						p.G152S	NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	454	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		152			Helical; Name=4; (Potential).		A3KFT4	Missense_Mutation	SNP	ENST00000359682.2	37	c.454G>A	CCDS31106.1	.	.	.	.	.	.	.	.	.	.	g	13.76	2.333896	0.41297	.	.	ENSG00000198601	ENST00000359682	T	0.32988	1.43	1.88	-0.402	0.12404	GPCR, rhodopsin-like superfamily (1);	0.000000	0.31392	U	0.007733	T	0.43743	0.1261	M	0.62016	1.91	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.17592	-1.0364	10	0.66056	D	0.02	.	5.5661	0.17170	0.1302:0.0:0.6738:0.1961	.	152	Q96R28	OR2M2_HUMAN	S	152	ENSP00000352710:G152S	ENSP00000352710:G152S	G	+	1	0	OR2M2	246410364	0.941000	0.31946	0.000000	0.03702	0.004000	0.04260	2.234000	0.43035	0.091000	0.17302	0.454000	0.30748	GGC		PASS	0.443	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097356.2	NM_001004688		69	252	69	252	---	---	---	---
LPIN1	23175	broad.mit.edu	37	2	11911570	11911570	+	Nonsense_Mutation	SNP	A	A	T			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr2:11911570A>T	ENST00000256720.2	+	4	454	c.361A>T	c.(361-363)Aaa>Taa	p.K121*	LPIN1_ENST00000396098.1_Nonsense_Mutation_p.K127*|LPIN1_ENST00000425416.2_Nonsense_Mutation_p.K127*|LPIN1_ENST00000449576.2_Nonsense_Mutation_p.K170*|LPIN1_ENST00000396099.1_Nonsense_Mutation_p.K127*	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	121					cellular lipid metabolic process (GO:0044255)|fatty acid catabolic process (GO:0009062)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)|triglyceride mobilization (GO:0006642)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)	p.K121*(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		ATGCCAGCTGAAAAGGGGCTC	0.532																																						uc010yjn.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|large_intestine(1)|skin(1)	4						c.(361-363)AAA>TAA		lipin 1							56.0	59.0	58.0					2																	11911570		2203	4300	6503	SO:0001587	stop_gained	23175				fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity	g.chr2:11911570A>T	D80010	CCDS1682.1, CCDS58699.1, CCDS58700.1, CCDS58701.1	2p25.1	2008-05-23			ENSG00000134324	ENSG00000134324			13345	protein-coding gene	gene with protein product		605518				11138012, 8724849, 16950137	Standard	NM_145693		Approved	KIAA0188	uc010yjm.3	Q14693	OTTHUMG00000119082	ENST00000256720.2:c.361A>T	2.37:g.11911570A>T	ENSP00000256720:p.Lys121*					LPIN1_uc010yjm.1_Nonsense_Mutation_p.K170*|LPIN1_uc002rbt.2_Nonsense_Mutation_p.K121*|LPIN1_uc002rbs.2_Nonsense_Mutation_p.K121*	p.K121*	NM_145693	NP_663731	Q14693	LPIN1_HUMAN		Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)	5	635	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		121					A8MU38|B4DET9|B4DGS4|B4DGZ6|B5MC18|B7Z858|D6W506|E7ESE7|F5GY24|Q53T25	Nonsense_Mutation	SNP	ENST00000256720.2	37	c.361A>T	CCDS1682.1	.	.	.	.	.	.	.	.	.	.	A	38	7.158736	0.98103	.	.	ENSG00000134324	ENST00000449576;ENST00000396098;ENST00000396099;ENST00000425416;ENST00000256720	.	.	.	5.8	4.62	0.57501	.	0.173235	0.52532	D	0.000077	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.2213	12.9679	0.58494	0.8647:0.1353:0.0:0.0	.	.	.	.	X	170;127;127;127;121	.	ENSP00000256720:K121X	K	+	1	0	LPIN1	11829021	0.949000	0.32298	0.751000	0.31187	0.441000	0.31987	2.401000	0.44513	0.998000	0.38996	0.533000	0.62120	AAA		PASS	0.532	LPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239296.3	NM_145693		4	33	4	33	---	---	---	---
HEATR5B	54497	broad.mit.edu	37	2	37241016	37241016	+	Missense_Mutation	SNP	C	C	G			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr2:37241016C>G	ENST00000233099.5	-	27	4347	c.4252G>C	c.(4252-4254)Gaa>Caa	p.E1418Q	HEATR5B_ENST00000354531.2_Missense_Mutation_p.E1418Q	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1418						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)		p.E1418Q(1)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				GCCAGTTTTTCCATGGTCGTG	0.448																																						uc002rpp.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(2)|breast(1)	8						c.(4252-4254)GAA>CAA		HEAT repeat containing 5B							145.0	140.0	142.0					2																	37241016		2203	4300	6503	SO:0001583	missense	54497						binding	g.chr2:37241016C>G	AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.4252G>C	2.37:g.37241016C>G	ENSP00000233099:p.Glu1418Gln					HEATR5B_uc010ezy.1_Missense_Mutation_p.E2Q|HEATR5B_uc002rpq.3_Missense_Mutation_p.E2Q	p.E1418Q	NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN			27	4348	-		all_hematologic(82;0.21)	1418					B5MDU8|Q7Z3B2|Q9NVL7	Missense_Mutation	SNP	ENST00000233099.5	37	c.4252G>C	CCDS33181.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.873444	0.91664	.	.	ENSG00000008869	ENST00000233099;ENST00000354531	T;T	0.55413	0.52;0.52	5.69	5.69	0.88448	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.75838	0.3904	M	0.80616	2.505	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.991	T	0.76958	-0.2766	10	0.56958	D	0.05	-23.0862	19.7983	0.96495	0.0:1.0:0.0:0.0	.	1418;1418	Q9P2D3-3;Q9P2D3	.;HTR5B_HUMAN	Q	1418	ENSP00000233099:E1418Q;ENSP00000346531:E1418Q	ENSP00000233099:E1418Q	E	-	1	0	HEATR5B	37094520	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	7.630000	0.83225	2.693000	0.91896	0.313000	0.20887	GAA		PASS	0.448	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		5	72	5	72	---	---	---	---
SLC8A1	6546	broad.mit.edu	37	2	40656383	40656383	+	Missense_Mutation	SNP	T	T	C			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr2:40656383T>C	ENST00000403092.1	-	2	1071	c.1038A>G	c.(1036-1038)atA>atG	p.I346M	SLC8A1_ENST00000332839.4_Missense_Mutation_p.I346M|SLC8A1_ENST00000406391.2_Missense_Mutation_p.I346M|SLC8A1_ENST00000542756.1_Missense_Mutation_p.I346M|SLC8A1_ENST00000402441.1_Missense_Mutation_p.I346M|SLC8A1_ENST00000542024.1_Missense_Mutation_p.I346M|SLC8A1_ENST00000405269.1_Missense_Mutation_p.I346M|SLC8A1_ENST00000406785.2_Missense_Mutation_p.I346M|SLC8A1_ENST00000408028.2_Missense_Mutation_p.I346M|SLC8A1_ENST00000405901.3_Missense_Mutation_p.I346M			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	346					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)	p.I346M(1)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TAGCTAATTCTATTAATTGCT	0.403																																						uc002rrx.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(1036-1038)ATA>ATG		solute carrier family 8 (sodium/calcium	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						165.0	166.0	166.0					2																	40656383		2203	4300	6503	SO:0001583	missense	6546				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	g.chr2:40656383T>C		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.1038A>G	2.37:g.40656383T>C	ENSP00000384763:p.Ile346Met					SLC8A1_uc002rry.2_Missense_Mutation_p.I346M|SLC8A1_uc002rrz.2_Missense_Mutation_p.I346M|SLC8A1_uc002rsa.2_Missense_Mutation_p.I346M|SLC8A1_uc002rsd.3_Missense_Mutation_p.I346M|SLC8A1_uc002rsb.1_Missense_Mutation_p.I346M|SLC8A1_uc010fan.1_Missense_Mutation_p.I346M|SLC8A1_uc002rsc.1_Missense_Mutation_p.I346M	p.I346M	NM_021097	NP_066920	P32418	NAC1_HUMAN			1	1062	-			346			Cytoplasmic (Potential).		A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Missense_Mutation	SNP	ENST00000403092.1	37	c.1038A>G	CCDS1806.1	.	.	.	.	.	.	.	.	.	.	T	8.898	0.955541	0.18507	.	.	ENSG00000183023	ENST00000406785;ENST00000378715;ENST00000542756;ENST00000403092;ENST00000405901;ENST00000402441;ENST00000405269;ENST00000332839;ENST00000408028;ENST00000535962;ENST00000406391;ENST00000542024	T;T;T;T;T;T;T;T;T;T	0.28666	1.6;1.64;1.65;1.64;1.6;1.6;1.65;1.61;1.6;1.6	6.17	-0.778	0.10977	Heat shock protein DnaJ, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.33381	0.0861	L	0.28014	0.82	0.58432	D	0.999995	B;D;B;B;B	0.65815	0.41;0.995;0.41;0.196;0.124	B;D;B;B;B	0.80764	0.257;0.994;0.257;0.072;0.031	T	0.06058	-1.0848	10	0.45353	T	0.12	.	6.7316	0.23387	0.4667:0.0:0.2404:0.293	.	346;346;346;346;346	P32418-4;P32418-2;P32418-3;F6VPY9;P32418	.;.;.;.;NAC1_HUMAN	M	346	ENSP00000383886:I346M;ENSP00000440727:I346M;ENSP00000384763:I346M;ENSP00000385678:I346M;ENSP00000385188:I346M;ENSP00000385535:I346M;ENSP00000332931:I346M;ENSP00000384908:I346M;ENSP00000385811:I346M;ENSP00000443515:I346M	ENSP00000332931:I346M	I	-	3	3	SLC8A1	40509887	0.006000	0.16342	0.949000	0.38748	0.996000	0.88848	-1.357000	0.02607	-0.343000	0.08351	0.533000	0.62120	ATA		PASS	0.403	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		11	119	11	119	---	---	---	---
SPTBN1	6711	broad.mit.edu	37	2	54870178	54870178	+	Missense_Mutation	SNP	C	C	G			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr2:54870178C>G	ENST00000356805.4	+	19	4198	c.3917C>G	c.(3916-3918)gCc>gGc	p.A1306G	SPTBN1_ENST00000333896.5_Missense_Mutation_p.A1293G	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1306					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.A1306G(1)|p.A1293G(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)			TACGATGAAGCCAGAAATCTG	0.423																																						uc002rxu.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8						c.(3916-3918)GCC>GGC		spectrin, beta, non-erythrocytic 1 isoform 1							112.0	111.0	111.0					2																	54870178		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.chr2:54870178C>G		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.3917C>G	2.37:g.54870178C>G	ENSP00000349259:p.Ala1306Gly					SPTBN1_uc002rxx.2_Missense_Mutation_p.A1293G	p.A1306G	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	Lung(47;0.24)		19	4166	+			1306			Spectrin 10.		B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	ENST00000356805.4	37	c.3917C>G	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.644229	0.87859	.	.	ENSG00000115306	ENST00000356805;ENST00000333896	T;T	0.52754	0.65;0.65	5.73	4.83	0.62350	.	0.106561	0.64402	D	0.000004	T	0.61961	0.2389	M	0.79805	2.47	0.54753	D	0.999986	B;B	0.27951	0.182;0.195	B;B	0.41036	0.14;0.346	T	0.65553	-0.6140	10	0.66056	D	0.02	.	16.6266	0.84972	0.0:0.8699:0.1301:0.0	.	1293;1306	Q01082-3;Q01082	.;SPTB2_HUMAN	G	1306;1293	ENSP00000349259:A1306G;ENSP00000334156:A1293G	ENSP00000334156:A1293G	A	+	2	0	SPTBN1	54723682	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.770000	0.85390	1.382000	0.46385	0.655000	0.94253	GCC		PASS	0.423	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			3	66	3	66	---	---	---	---
IGKV1-8	28942	broad.mit.edu	37	2	89292023	89292023	+	RNA	SNP	C	C	G	rs376344757		TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr2:89292023C>G	ENST00000495489.1	-	0	302									immunoglobulin kappa variable 1-8																		GATCCACTGCCGCTGAACCTT	0.473																																						uc010ytr.1																			0													Parts of antibodies, mostly variable regions.							139.0	136.0	137.0					2																	89292023		1877	4094	5971			0							g.chr2:89292023C>G	Z00014		2p11.2	2012-02-10			ENSG00000240671	ENSG00000240671		"""Immunoglobulins / IGK locus"""	5743	other	immunoglobulin gene							Standard	NG_000834		Approved	IGKV18, L9			OTTHUMG00000151634		2.37:g.89292023C>G						uc002stl.2_Intron								82		-									RNA	SNP	ENST00000495489.1	37	c.7183G>C																																																																																					PASS	0.473	IGKV1-8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323358.1	NG_000834		19	133	19	133	---	---	---	---
IGKV3D-20	28874	broad.mit.edu	37	2	90078197	90078197	+	RNA	SNP	C	C	A			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr2:90078197C>A	ENST00000390270.2	+	0	331									immunoglobulin kappa variable 3D-20																		GGGCCACTGGCATCCCAGACA	0.552																																						uc010fhm.2																			0													Parts of antibodies, mostly variable regions.							64.0	62.0	63.0					2																	90078197		1877	4113	5990			0							g.chr2:90078197C>A	X12687		2p11.2	2012-02-08			ENSG00000211625	ENSG00000211625		"""Immunoglobulins / IGK locus"""	5825	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000151615		2.37:g.90078197C>A														14		+									RNA	SNP	ENST00000390270.2	37	c.1587C>A																																																																																					PASS	0.552	IGKV3D-20-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323287.1	NG_000833		12	42	12	42	---	---	---	---
R3HDM1	23518	broad.mit.edu	37	2	136409402	136409402	+	Missense_Mutation	SNP	C	C	T			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr2:136409402C>T	ENST00000264160.4	+	17	2093	c.1723C>T	c.(1723-1725)Ctt>Ttt	p.L575F	R3HDM1_ENST00000409606.1_Missense_Mutation_p.L576F|R3HDM1_ENST00000409478.1_Missense_Mutation_p.L447F|R3HDM1_ENST00000410054.1_Missense_Mutation_p.L520F|R3HDM1_ENST00000329971.3_Missense_Mutation_p.L446F	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	575							poly(A) RNA binding (GO:0044822)	p.L575F(1)		breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		CACTGTGGTTCTTCAGTCTCC	0.572																																						uc002tuo.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1723-1725)CTT>TTT		R3H domain containing 1							188.0	162.0	171.0					2																	136409402		2203	4300	6503	SO:0001583	missense	23518						nucleic acid binding	g.chr2:136409402C>T	D21852	CCDS2177.1, CCDS63024.1, CCDS63025.1, CCDS63026.1	2q21.3	2012-09-20	2005-09-02	2005-09-02	ENSG00000048991	ENSG00000048991			9757	protein-coding gene	gene with protein product			"""R3H domain (binds single-stranded nucleic acids) containing"""	R3HDM		7584026	Standard	NM_001282798		Approved	KIAA0029	uc002tuo.3	Q15032	OTTHUMG00000131740	ENST00000264160.4:c.1723C>T	2.37:g.136409402C>T	ENSP00000264160:p.Leu575Phe					R3HDM1_uc010fni.2_Missense_Mutation_p.L574F|R3HDM1_uc002tup.2_Missense_Mutation_p.L520F|R3HDM1_uc010zbh.1_Missense_Mutation_p.L323F	p.L575F	NM_015361	NP_056176	Q15032	R3HD1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.127)	17	2093	+			575					A8K1V0|B3KXQ9|E9PBB4|E9PG42|G5E9G8|Q8IW32	Missense_Mutation	SNP	ENST00000264160.4	37	c.1723C>T	CCDS2177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.4|24.4	4.528963|4.528963	0.85706|0.85706	.|.	.|.	ENSG00000048991|ENSG00000048991	ENST00000409478;ENST00000264160;ENST00000329971;ENST00000410054;ENST00000409606|ENST00000429703;ENST00000425804	T;T;T;T;T|.	0.52526|.	0.66;0.66;0.66;0.66;0.66|.	5.42|5.42	5.42|5.42	0.78866|0.78866	.|.	0.541634|.	0.19821|.	N|.	0.105311|.	T|T	0.74966|0.74966	0.3786|0.3786	M|M	0.65975|0.65975	2.015|2.015	0.46901|0.46901	D|D	0.999243|0.999243	D;P;P;P|.	0.76494|.	0.999;0.668;0.938;0.857|.	D;P;P;P|.	0.66979|.	0.948;0.448;0.58;0.58|.	T|T	0.73244|0.73244	-0.4044|-0.4044	10|5	0.10111|.	T|.	0.7|.	-2.7299|-2.7299	19.2069|19.2069	0.93734|0.93734	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	447;576;520;575|.	G5E9G8;E9PBB4;E9PG42;Q15032|.	.;.;.;R3HD1_HUMAN|.	F|F	447;575;446;520;576|298;158	ENSP00000386457:L447F;ENSP00000264160:L575F;ENSP00000331396:L446F;ENSP00000386877:L520F;ENSP00000387010:L576F|.	ENSP00000264160:L575F|.	L|S	+|+	1|2	0|0	R3HDM1|R3HDM1	136125872|136125872	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.012000|7.012000	0.76366|0.76366	2.520000|2.520000	0.84964|0.84964	0.561000|0.561000	0.74099|0.74099	CTT|TCT		PASS	0.572	R3HDM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254659.1	NM_015361		18	145	18	145	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141232732	141232732	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr2:141232732G>T	ENST00000389484.3	-	60	10571	c.9600C>A	c.(9598-9600)aaC>aaA	p.N3200K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3200					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.N3200K(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)		ATCCATCCATGTTGCTAAATT	0.299										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.(9598-9600)AAC>AAA		low density lipoprotein-related protein 1B							96.0	89.0	91.0					2																	141232732		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141232732G>T	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.9600C>A	2.37:g.141232732G>T	ENSP00000374135:p.Asn3200Lys	TSP Lung(27;0.18)					p.N3200K	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)	60	10572	-		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)	3200			Extracellular (Potential).|LDL-receptor class B 31.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.9600C>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	17.04	3.286702	0.59867	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.91631	-2.88	5.63	3.59	0.41128	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.058025	0.64402	D	0.000003	D	0.87059	0.6083	L	0.42487	1.325	0.48087	D	0.999585	B	0.32245	0.361	B	0.28139	0.086	T	0.82746	-0.0305	10	0.51188	T	0.08	.	10.4506	0.44520	0.1804:0.0:0.8196:0.0	.	3200	Q9NZR2	LRP1B_HUMAN	K	3200;3138	ENSP00000374135:N3200K	ENSP00000374135:N3200K	N	-	3	2	LRP1B	140949202	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.745000	0.74860	0.552000	0.29026	0.650000	0.86243	AAC		PASS	0.299	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		7	70	7	70	---	---	---	---
MBD5	55777	broad.mit.edu	37	2	149226272	149226272	+	Missense_Mutation	SNP	A	A	T			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr2:149226272A>T	ENST00000407073.1	+	9	1757	c.760A>T	c.(760-762)Aat>Tat	p.N254Y	MBD5_ENST00000404807.1_Missense_Mutation_p.N254Y	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	254					glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708)	chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.N254Y(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		CACAAGAAGTAATCCTGGTTT	0.473																																						uc002twm.3																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)	5						c.(760-762)AAT>TAT		methyl-CpG binding domain protein 5							90.0	97.0	94.0					2																	149226272		2203	4300	6503	SO:0001583	missense	55777					chromosome|nucleus	chromatin binding|DNA binding	g.chr2:149226272A>T	AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.760A>T	2.37:g.149226272A>T	ENSP00000386049:p.Asn254Tyr					MBD5_uc010zbs.1_RNA|MBD5_uc010fns.2_Missense_Mutation_p.N254Y|MBD5_uc002twn.1_5'Flank	p.N254Y	NM_018328	NP_060798	Q9P267	MBD5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0569)	9	1748	+			254					A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Missense_Mutation	SNP	ENST00000407073.1	37	c.760A>T	CCDS33302.1	.	.	.	.	.	.	.	.	.	.	A	15.12	2.738050	0.49045	.	.	ENSG00000204406	ENST00000407073;ENST00000404807	T;T	0.41758	0.99;0.99	5.16	5.16	0.70880	.	0.000000	0.64402	D	0.000004	T	0.47525	0.1450	N	0.14661	0.345	0.53005	D	0.999961	D	0.76494	0.999	D	0.70935	0.971	T	0.56183	-0.8021	10	0.87932	D	0	-6.8688	15.288	0.73843	1.0:0.0:0.0:0.0	.	254	Q9P267	MBD5_HUMAN	Y	254	ENSP00000386049:N254Y;ENSP00000384672:N254Y	ENSP00000384672:N254Y	N	+	1	0	MBD5	148942742	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.052000	0.76634	2.079000	0.62486	0.482000	0.46254	AAT		PASS	0.473	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318111.2			7	96	7	96	---	---	---	---
NEB	4703	broad.mit.edu	37	2	152501057	152501057	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr2:152501057C>A	ENST00000172853.10	-	56	7716	c.7569G>T	c.(7567-7569)aaG>aaT	p.K2523N	NEB_ENST00000604864.1_Missense_Mutation_p.K2523N|NEB_ENST00000427231.2_Missense_Mutation_p.K2523N|NEB_ENST00000603639.1_Missense_Mutation_p.K2523N|NEB_ENST00000409198.1_Missense_Mutation_p.K2523N|NEB_ENST00000397345.3_Missense_Mutation_p.K2523N			P20929	NEBU_HUMAN	nebulin	2523					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.K2523N(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)		AACCTTTTCTCTTCAGCTCCT	0.383																																						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.(7567-7569)AAG>AAT		nebulin isoform 3							151.0	141.0	144.0					2																	152501057		1843	4096	5939	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.chr2:152501057C>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.7569G>T	2.37:g.152501057C>A	ENSP00000172853:p.Lys2523Asn						p.K2523N	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	56	7760	-			2523					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.7569G>T		.	.	.	.	.	.	.	.	.	.	C	18.63	3.664315	0.67700	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.81465	0.4828	M	0.87900	2.915	0.80722	D	1	P	0.44260	0.83	P	0.58780	0.845	D	0.83784	0.0227	10	0.87932	D	0	.	19.533	0.95237	0.0:1.0:0.0:0.0	.	2523	P20929	NEBU_HUMAN	N	2523	ENSP00000386259:K2523N;ENSP00000380505:K2523N;ENSP00000416578:K2523N;ENSP00000172853:K2523N	ENSP00000172853:K2523N	K	-	3	2	NEB	152209303	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	2.303000	0.43646	2.697000	0.92050	0.557000	0.71058	AAG		PASS	0.383	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		6	68	6	68	---	---	---	---
SCN3A	6328	broad.mit.edu	37	2	165984203	165984203	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr2:165984203C>A	ENST00000360093.3	-	18	3822	c.3331G>T	c.(3331-3333)Gac>Tac	p.D1111Y	SCN3A_ENST00000409101.3_Missense_Mutation_p.D1062Y|SCN3A_ENST00000283254.7_Missense_Mutation_p.D1111Y	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1111					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.D1062Y(1)|p.D1111Y(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TTTTCAAAGTCAGACTCTCCA	0.363																																						uc002ucx.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10						c.(3331-3333)GAC>TAC		sodium channel, voltage-gated, type III, alpha	Lamotrigine(DB00555)						94.0	91.0	92.0					2																	165984203		2203	4300	6503	SO:0001583	missense	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:165984203C>A	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.3331G>T	2.37:g.165984203C>A	ENSP00000353206:p.Asp1111Tyr					SCN3A_uc002ucy.2_Missense_Mutation_p.D1062Y|SCN3A_uc002ucz.2_Missense_Mutation_p.D1062Y|SCN3A_uc002uda.1_Missense_Mutation_p.D931Y|SCN3A_uc002udb.1_Missense_Mutation_p.D931Y	p.D1111Y	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN			18	3823	-			1111					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37	c.3331G>T		.	.	.	.	.	.	.	.	.	.	C	24.1	4.489719	0.84962	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431	D;D;D;D	0.94758	-3.51;-3.51;-3.51;-3.51	5.93	5.93	0.95920	Sodium ion transport-associated (1);	0.000000	0.64402	D	0.000004	D	0.98391	0.9465	H	0.96208	3.785	0.80722	D	1	D;D;D;D;D	0.89917	0.992;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.978;0.999;0.999;0.999;0.993	D	0.98847	1.0757	10	0.87932	D	0	.	20.3437	0.98782	0.0:1.0:0.0:0.0	.	1111;1062;1062;1062;1111	Q9NY46;E7EUE6;Q9NY46-2;Q9NY46-4;Q9NY46-3	SCN3A_HUMAN;.;.;.;.	Y	1111;1111;1062;1062	ENSP00000353206:D1111Y;ENSP00000283254:D1111Y;ENSP00000386726:D1062Y;ENSP00000403348:D1062Y	ENSP00000283254:D1111Y	D	-	1	0	SCN3A	165692449	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.772000	0.85439	2.815000	0.96918	0.561000	0.74099	GAC		PASS	0.363	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		4	82	4	82	---	---	---	---
SCN1A	6323	broad.mit.edu	37	2	166892650	166892650	+	Missense_Mutation	SNP	C	C	T			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr2:166892650C>T	ENST00000303395.4	-	16	3336	c.3337G>A	c.(3337-3339)Gtg>Atg	p.V1113M	AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000423058.2_Missense_Mutation_p.V1113M|SCN1A_ENST00000375405.3_Missense_Mutation_p.V1102M|SCN1A_ENST00000409050.1_Missense_Mutation_p.V1085M|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1113					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)	p.V1102M(1)|p.V1113M(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GGTACAGTCACAGTAAGACTG	0.363																																						uc010zcz.1																			2	Substitution - Missense(2)		lung(2)	ovary(6)|skin(6)|large_intestine(1)	13						c.(3304-3306)GTG>ATG		sodium channel, voltage-gated, type I, alpha	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						192.0	187.0	189.0					2																	166892650		2203	4300	6503	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166892650C>T	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.3337G>A	2.37:g.166892650C>T	ENSP00000303540:p.Val1113Met					SCN1A_uc002udo.3_Missense_Mutation_p.V982M|SCN1A_uc010fpk.2_Missense_Mutation_p.V954M	p.V1102M	NM_006920	NP_008851	P35498	SCN1A_HUMAN			16	3322	-			1113					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.3304G>A	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	C	19.37	3.815084	0.70912	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.85702	-2.02;-2.02;-2.02;-2.02	5.44	5.44	0.79542	Sodium ion transport-associated (1);	0.193879	0.36268	N	0.002692	D	0.93301	0.7865	M	0.85859	2.78	0.54753	D	0.999987	D;D;D	0.71674	0.998;0.977;0.996	D;P;D	0.72625	0.978;0.867;0.969	D	0.93735	0.7045	10	0.72032	D	0.01	.	19.6179	0.95643	0.0:1.0:0.0:0.0	.	1102;1085;1113	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	M	1113;1113;1102;1085	ENSP00000407030:V1113M;ENSP00000303540:V1113M;ENSP00000364554:V1102M;ENSP00000386312:V1085M	ENSP00000303540:V1113M	V	-	1	0	SCN1A	166600896	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.936000	0.70153	2.709000	0.92574	0.655000	0.94253	GTG		PASS	0.363	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		7	85	7	85	---	---	---	---
ITGA6	3655	broad.mit.edu	37	2	173349564	173349564	+	Nonsense_Mutation	SNP	C	C	G			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr2:173349564C>G	ENST00000264106.6	+	13	1924	c.1721C>G	c.(1720-1722)tCa>tGa	p.S574*	AC093818.1_ENST00000442417.1_RNA|ITGA6_ENST00000409532.1_Nonsense_Mutation_p.S416*|ITGA6_ENST00000343713.4_Nonsense_Mutation_p.S530*|ITGA6_ENST00000375221.2_Nonsense_Mutation_p.S574*|ITGA6_ENST00000264107.7_Nonsense_Mutation_p.S535*|ITGA6_ENST00000409080.1_Nonsense_Mutation_p.S535*			P23229	ITA6_HUMAN	integrin, alpha 6	574					amelogenesis (GO:0097186)|blood coagulation (GO:0007596)|brown fat cell differentiation (GO:0050873)|cell adhesion mediated by integrin (GO:0033627)|cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|cellular response to extracellular stimulus (GO:0031668)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|nail development (GO:0035878)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|renal system development (GO:0072001)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|external side of plasma membrane (GO:0009897)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha6-beta4 complex (GO:0034676)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)	p.S535*(2)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			GGGCTATCCTCAAGAGTTCAG	0.393																																						uc002uhp.1																			2	Substitution - Nonsense(2)		lung(2)	ovary(1)|lung(1)	2						c.(1603-1605)TCA>TGA		integrin alpha chain, alpha 6 isoform a							67.0	68.0	67.0					2																	173349564		2203	4300	6503	SO:0001587	stop_gained	3655				blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity	g.chr2:173349564C>G		CCDS2249.1, CCDS46451.1	2q31.1	2010-09-20			ENSG00000091409	ENSG00000091409		"""CD molecules"", ""Integrins"""	6142	protein-coding gene	gene with protein product		147556					Standard	NM_001079818		Approved	CD49f	uc002uhp.1	P23229	OTTHUMG00000132277	ENST00000264106.6:c.1721C>G	2.37:g.173349564C>G	ENSP00000264106:p.Ser574*					ITGA6_uc010zdy.1_Nonsense_Mutation_p.S416*|ITGA6_uc002uho.1_Nonsense_Mutation_p.S535*|ITGA6_uc010fqm.1_Nonsense_Mutation_p.S181*	p.S535*	NM_001079818	NP_001073286	P23229	ITA6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0979)		12	1807	+			574			Extracellular (Potential).		B2RMU9|B4DG69|B4DKB8|C4AM96|G5E9H1|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03	Nonsense_Mutation	SNP	ENST00000264106.6	37	c.1604C>G		.	.	.	.	.	.	.	.	.	.	C	37	6.171350	0.97343	.	.	ENSG00000091409	ENST00000409532;ENST00000264107;ENST00000264106;ENST00000375221;ENST00000343713;ENST00000409080;ENST00000442250;ENST00000458358	.	.	.	5.77	5.77	0.91146	.	0.168649	0.56097	D	0.000037	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	17.7714	0.88494	0.0:1.0:0.0:0.0	.	.	.	.	X	416;535;574;574;530;535;574;530	.	ENSP00000264106:S574X	S	+	2	0	ITGA6	173057810	0.988000	0.35896	0.986000	0.45419	0.992000	0.81027	6.101000	0.71479	2.724000	0.93272	0.561000	0.74099	TCA		PASS	0.393	ITGA6-201	KNOWN	basic	protein_coding	protein_coding				4	61	4	61	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179574506	179574506	+	Missense_Mutation	SNP	C	C	T			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr2:179574506C>T	ENST00000591111.1	-	97	27813	c.27589G>A	c.(27589-27591)Gag>Aag	p.E9197K	TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E8270K|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E9514K			Q8WZ42	TITIN_HUMAN	titin	13323	Ig-like 75.				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.E8270K(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)			ACACGTCCCTCAAGTTTGAAA	0.383																																						uc010zfg.1																			1	Substitution - Missense(1)		lung(1)	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.(24808-24810)GAG>AAG		titin isoform N2-A							107.0	108.0	108.0					2																	179574506		1833	4086	5919	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179574506C>T	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.27589G>A	2.37:g.179574506C>T	ENSP00000465570:p.Glu9197Lys					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E4931K	p.E8270K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		96	25032	-			9197					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.24808G>A		.	.	.	.	.	.	.	.	.	.	C	21.6	4.170874	0.78452	.	.	ENSG00000155657	ENST00000342992	T	0.67865	-0.29	5.91	5.91	0.95273	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.83027	0.5165	M	0.74546	2.27	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.83639	0.0149	9	0.87932	D	0	.	20.2985	0.98592	0.0:1.0:0.0:0.0	.	9197	Q8WZ42	TITIN_HUMAN	K	8270	ENSP00000343764:E8270K	ENSP00000343764:E8270K	E	-	1	0	TTN	179282751	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.793000	0.96121	0.655000	0.94253	GAG		PASS	0.383	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		11	75	11	75	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179590615	179590615	+	Nonsense_Mutation	SNP	T	T	A			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr2:179590615T>A	ENST00000591111.1	-	68	19707	c.19483A>T	c.(19483-19485)Aaa>Taa	p.K6495*	TTN_ENST00000342992.6_Nonsense_Mutation_p.K5568*|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.K6812*			Q8WZ42	TITIN_HUMAN	titin	12096	Ig-like 46.				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.K5568*(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)			TGGAAGTTTTTGGATGCAATC	0.433																																						uc010zfg.1																			1	Substitution - Nonsense(1)		lung(1)	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.(16702-16704)AAA>TAA		titin isoform N2-A							118.0	114.0	115.0					2																	179590615		1904	4145	6049	SO:0001587	stop_gained	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179590615T>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.19483A>T	2.37:g.179590615T>A	ENSP00000465570:p.Lys6495*					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Nonsense_Mutation_p.K2229*	p.K5568*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		67	16926	-			6495					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.16702A>T		.	.	.	.	.	.	.	.	.	.	T	57	28.577734	0.99974	.	.	ENSG00000155657	ENST00000342992	.	.	.	5.72	4.56	0.56223	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	12.0099	0.53280	0.0:0.0678:0.0:0.9322	.	.	.	.	X	5568	.	ENSP00000343764:K5568X	K	-	1	0	TTN	179298860	0.996000	0.38824	0.781000	0.31783	0.610000	0.37248	1.742000	0.38248	1.096000	0.41439	0.533000	0.62120	AAA		PASS	0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		3	36	3	36	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179632624	179632624	+	Silent	SNP	G	G	C			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr2:179632624G>C	ENST00000591111.1	-	40	9557	c.9333C>G	c.(9331-9333)gtC>gtG	p.V3111V	TTN_ENST00000342992.6_Silent_p.V3111V|TTN_ENST00000360870.5_Silent_p.V3111V|TTN_ENST00000342175.6_Silent_p.V3065V|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000359218.5_Silent_p.V3065V|TTN_ENST00000460472.2_Silent_p.V3065V|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Silent_p.V3111V			Q8WZ42	TITIN_HUMAN	titin	13443	Ig-like 18.				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.V3111V(3)|p.V3065V(3)		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)			GAAGGCGGTGGACATATTTCT	0.453																																						uc010zfg.1																			6	Substitution - coding silent(6)		lung(6)	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.(9331-9333)GTC>GTG		titin isoform N2-A							84.0	86.0	86.0					2																	179632624		2203	4300	6503	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179632624G>C	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.9333C>G	2.37:g.179632624G>C						TTN_uc010zfh.1_Silent_p.V3065V|TTN_uc010zfi.1_Silent_p.V3065V|TTN_uc010zfj.1_Silent_p.V3065V|TTN_uc002unb.2_Silent_p.V3111V	p.V3111V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		40	9557	-			3111					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	Silent	SNP	ENST00000591111.1	37	c.9333C>G																																																																																					PASS	0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		3	56	3	56	---	---	---	---
SESTD1	91404	broad.mit.edu	37	2	180011185	180011185	+	Splice_Site	SNP	C	C	A			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr2:180011185C>A	ENST00000428443.3	-	8	898		c.e8-1			NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1								phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)	p.?(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			ATCCACAGACCTGGAAAACAC	0.308																																						uc002uni.3																			1	Unknown(1)		lung(1)	ovary(1)	1						c.e8-1		SEC14 and spectrin domains 1							56.0	58.0	57.0					2																	180011185		2203	4300	6503	SO:0001630	splice_region_variant	91404				regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding	g.chr2:180011185C>A	AK096232	CCDS33338.1	2q31.3	2014-01-28			ENSG00000187231	ENSG00000187231			18379	protein-coding gene	gene with protein product						12837271	Standard	NM_178123		Approved	DKFZp434O0515, Solo	uc002uni.4	Q86VW0	OTTHUMG00000154554	ENST00000428443.3:c.582-1G>T	2.37:g.180011185C>A							p.R194_splice	NM_178123	NP_835224	Q86VW0	SESD1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)		8	732	-								Q53R38|Q53SP3|Q5GM69|Q8N6M1|Q96LQ2	Splice_Site	SNP	ENST00000428443.3	37	c.582_splice	CCDS33338.1	.	.	.	.	.	.	.	.	.	.	C	16.87	3.241388	0.58995	.	.	ENSG00000187231	ENST00000428443	.	.	.	5.27	5.27	0.74061	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8522	0.92237	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SESTD1	179719430	1.000000	0.71417	0.994000	0.49952	0.817000	0.46193	5.179000	0.65043	2.599000	0.87857	0.591000	0.81541	.		PASS	0.308	SESTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335916.2	NM_178123	Intron	4	42	4	42	---	---	---	---
MAP2	4133	broad.mit.edu	37	2	210560608	210560608	+	Silent	SNP	G	G	A			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr2:210560608G>A	ENST00000360351.4	+	7	4220	c.3714G>A	c.(3712-3714)gaG>gaA	p.E1238E	MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000447185.1_Silent_p.E1234E|MAP2_ENST00000392194.1_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	1238					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)	p.E1238E(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	AGGAAGAAGAGATAGAAGCCC	0.483																																					Pancreas(27;423 979 28787 29963)	uc002vde.1																			1	Substitution - coding silent(1)		lung(1)	ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17						c.(3712-3714)GAG>GAA		microtubule-associated protein 2 isoform 1	Estramustine(DB01196)						72.0	76.0	74.0					2																	210560608		2203	4300	6503	SO:0001819	synonymous_variant	4133				central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	g.chr2:210560608G>A		CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.3714G>A	2.37:g.210560608G>A						MAP2_uc002vdc.1_Silent_p.E1238E|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Silent_p.E1234E	p.E1238E	NM_002374	NP_002365	P11137	MAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	7	3962	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	1238					Q17S04|Q8IUX2|Q99975|Q99976	Silent	SNP	ENST00000360351.4	37	c.3714G>A	CCDS2384.1																																																																																				PASS	0.483	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		4	35	4	35	---	---	---	---
CPS1	1373	broad.mit.edu	37	2	211469853	211469853	+	Missense_Mutation	SNP	G	G	C			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr2:211469853G>C	ENST00000233072.5	+	17	2060	c.1864G>C	c.(1864-1866)Gtg>Ctg	p.V622L	CPS1_ENST00000451903.2_Missense_Mutation_p.V171L|CPS1_ENST00000430249.2_Missense_Mutation_p.V628L	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	622	ATP-grasp 1.		V -> M (in CPS1D). {ECO:0000269|PubMed:21120950}.		anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)	p.V622L(1)|p.V628L(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	CCAAATTCTGGTGGAGAAGTC	0.383																																						uc002vee.3																			2	Substitution - Missense(2)		lung(2)	ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13						c.(1864-1866)GTG>CTG		carbamoyl-phosphate synthetase 1 isoform b							114.0	106.0	109.0					2																	211469853		2203	4300	6503	SO:0001583	missense	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211469853G>C	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.1864G>C	2.37:g.211469853G>C	ENSP00000233072:p.Val622Leu					CPS1_uc010fur.2_Missense_Mutation_p.V628L|CPS1_uc010fus.2_Missense_Mutation_p.V171L	p.V622L	NM_001875	NP_001866	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	17	1996	+			622			ATP-grasp 1.		B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	c.1864G>C	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.066287	0.76187	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	D;D;D	0.97279	-4.32;-4.32;-4.32	5.8	4.92	0.64577	ATP-grasp fold (1);ATP-grasp fold, subdomain 2 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);Carbamoyl-phosphate synthase, large subunit, CPS-domain (1);	0.058940	0.64402	D	0.000002	D	0.96889	0.8984	L	0.48218	1.51	0.54753	D	0.999986	D;D	0.59767	0.986;0.986	P;P	0.57502	0.822;0.822	D	0.96381	0.9281	10	0.41790	T	0.15	-4.606	14.9304	0.70911	0.0684:0.0:0.9316:0.0	.	632;622	Q59HF8;P31327	.;CPSM_HUMAN	L	628;630;622;171	ENSP00000402608:V628L;ENSP00000233072:V622L;ENSP00000406136:V171L	ENSP00000233072:V622L	V	+	1	0	CPS1	211178098	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	1.463000	0.47967	0.650000	0.86243	GTG		PASS	0.383	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			7	59	7	59	---	---	---	---
SPHKAP	80309	broad.mit.edu	37	2	228884364	228884364	+	Missense_Mutation	SNP	A	A	T			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr2:228884364A>T	ENST00000392056.3	-	7	1252	c.1206T>A	c.(1204-1206)gaT>gaA	p.D402E	SPHKAP_ENST00000344657.5_Missense_Mutation_p.D402E	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	402						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.D402E(2)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TAATAAATGCATCCTGCAGCA	0.448																																						uc002vpq.2																			2	Substitution - Missense(2)		lung(2)	skin(5)|ovary(4)|lung(1)	10						c.(1204-1206)GAT>GAA		sphingosine kinase type 1-interacting protein							161.0	144.0	150.0					2																	228884364		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228884364A>T		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.1206T>A	2.37:g.228884364A>T	ENSP00000375909:p.Asp402Glu					SPHKAP_uc002vpp.2_Missense_Mutation_p.D402E|SPHKAP_uc010zlx.1_Missense_Mutation_p.D402E	p.D402E	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	1253	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	402					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.1206T>A	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	A	17.49	3.401691	0.62288	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.16196	2.36;2.36	5.79	1.94	0.25998	.	0.045523	0.85682	D	0.000000	T	0.28896	0.0717	M	0.66506	2.035	0.46927	D	0.999256	D;D	0.67145	0.976;0.996	P;D	0.64776	0.514;0.929	T	0.10428	-1.0630	10	0.20046	T	0.44	.	6.323	0.21229	0.7252:0.1335:0.1412:0.0	.	402;402	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	E	402	ENSP00000375909:D402E;ENSP00000339886:D402E	ENSP00000339886:D402E	D	-	3	2	SPHKAP	228592608	0.997000	0.39634	1.000000	0.80357	0.818000	0.46254	0.674000	0.25218	0.468000	0.27243	-0.290000	0.09829	GAT		PASS	0.448	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		8	76	8	76	---	---	---	---
COL6A3	1293	broad.mit.edu	37	2	238249779	238249779	+	Missense_Mutation	SNP	C	C	T			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr2:238249779C>T	ENST00000295550.4	-	38	8232	c.7780G>A	c.(7780-7782)Gac>Aac	p.D2594N	COL6A3_ENST00000347401.3_Missense_Mutation_p.D2393N|COL6A3_ENST00000353578.4_Missense_Mutation_p.D2388N|COL6A3_ENST00000409809.1_Missense_Mutation_p.D2388N|COL6A3_ENST00000472056.1_Missense_Mutation_p.D1987N|COL6A3_ENST00000346358.4_Missense_Mutation_p.D2394N	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2594	Nonhelical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.D2594N(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CAGGATGGGTCGATGTTGCAG	0.532																																						uc002vwl.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18						c.(7780-7782)GAC>AAC		alpha 3 type VI collagen isoform 1 precursor							106.0	105.0	105.0					2																	238249779		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238249779C>T	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.7780G>A	2.37:g.238249779C>T	ENSP00000295550:p.Asp2594Asn					COL6A3_uc002vwo.2_Missense_Mutation_p.D2388N|COL6A3_uc010znj.1_Missense_Mutation_p.D1987N|COL6A3_uc002vwj.2_5'UTR	p.D2594N	NM_004369	NP_004360	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	38	8065	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	2594			Nonhelical region.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.7780G>A	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	12.06	1.823214	0.32237	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	D;D;D;D;D;D	0.88741	-2.42;-2.42;-2.39;-2.38;-2.39;-2.37	5.05	4.11	0.48088	.	0.112160	0.38897	N	0.001532	D	0.88496	0.6452	L	0.27053	0.805	0.44302	D	0.997178	D;D;D	0.76494	0.993;0.996;0.999	P;P;D	0.63597	0.47;0.67;0.916	D	0.88126	0.2835	10	0.54805	T	0.06	.	10.6059	0.45394	0.1309:0.6282:0.2409:0.0	.	1987;2388;2594	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	N	2594;2393;2388;1987;2388;2394	ENSP00000295550:D2594N;ENSP00000315609:D2393N;ENSP00000315873:D2388N;ENSP00000418285:D1987N;ENSP00000386844:D2388N;ENSP00000295546:D2394N	ENSP00000295550:D2594N	D	-	1	0	COL6A3	237914518	0.987000	0.35691	0.990000	0.47175	0.787000	0.44495	1.902000	0.39848	2.478000	0.83669	0.655000	0.94253	GAC		PASS	0.532	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		5	76	5	76	---	---	---	---
TRANK1	9881	broad.mit.edu	37	3	36872686	36872686	+	Silent	SNP	C	C	T			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr3:36872686C>T	ENST00000429976.2	-	21	8503	c.8256G>A	c.(8254-8256)gaG>gaA	p.E2752E	TRANK1_ENST00000301807.6_Silent_p.E2202E|TRANK1_ENST00000428977.2_Silent_p.E2202E	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2752							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)	p.E2202E(1)|p.E2195E(1)|p.E2752E(1)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GGACTGCCACCTCGGAAGCTG	0.562																																						uc003cgj.2																			3	Substitution - coding silent(3)		lung(3)	ovary(1)|central_nervous_system(1)	2						c.(6604-6606)GAG>GAA		lupus brain antigen 1							80.0	81.0	81.0					3																	36872686		2000	4182	6182	SO:0001819	synonymous_variant	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36872686C>T	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.8256G>A	3.37:g.36872686C>T							p.E2202E	NM_014831	NP_055646	O15050	TRNK1_HUMAN			12	6908	-			2752					Q8N8K0	Silent	SNP	ENST00000429976.2	37	c.6606G>A	CCDS46789.2																																																																																				PASS	0.562	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		16	39	16	39	---	---	---	---
NISCH	11188	broad.mit.edu	37	3	52526102	52526102	+	Silent	SNP	C	C	G			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr3:52526102C>G	ENST00000479054.1	+	22	4191	c.4119C>G	c.(4117-4119)ctC>ctG	p.L1373L	NISCH_ENST00000345716.4_Silent_p.L1373L			Q9Y2I1	NISCH_HUMAN	nischarin	1373					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|glucose metabolic process (GO:0006006)|negative regulation of cell migration (GO:0030336)|norepinephrine secretion (GO:0048243)|Rac protein signal transduction (GO:0016601)|regulation of blood pressure (GO:0008217)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled amine receptor activity (GO:0008227)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)	p.L1373L(1)		NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	Tizanidine(DB00697)	CCAAGACACTCCTGCTCACCA	0.652																																						uc011beg.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(4117-4119)CTC>CTG		nischarin							34.0	41.0	39.0					3																	52526102		2203	4299	6502	SO:0001819	synonymous_variant	11188				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity	g.chr3:52526102C>G	AF082516	CCDS33767.1, CCDS63651.1, CCDS63652.1	3p21.1	2008-07-18			ENSG00000010322	ENSG00000010322			18006	protein-coding gene	gene with protein product	"""imidazoline receptor candidate"", ""I-1 receptor candidate protein"", ""imidazoline receptor antisera selected"""	615507				11912194, 10882231	Standard	NM_007184		Approved	KIAA0975, I-1, IRAS	uc003ded.4	Q9Y2I1	OTTHUMG00000158571	ENST00000479054.1:c.4119C>G	3.37:g.52526102C>G						NISCH_uc003ded.3_Silent_p.L1373L|NISCH_uc003dee.3_Silent_p.L862L|NISCH_uc003deg.1_RNA|NISCH_uc003deh.3_Silent_p.L122L	p.L1373L	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	22	4191	+			1373					C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Silent	SNP	ENST00000479054.1	37	c.4119C>G	CCDS33767.1																																																																																				PASS	0.652	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351357.1	NM_007184		7	40	7	40	---	---	---	---
PXK	54899	broad.mit.edu	37	3	58381473	58381473	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr3:58381473G>T	ENST00000356151.2	+	9	918	c.809G>T	c.(808-810)cGg>cTg	p.R270L	PXK_ENST00000463280.1_Missense_Mutation_p.R237L|PXK_ENST00000484288.1_Missense_Mutation_p.R270L|PXK_ENST00000536660.1_Missense_Mutation_p.R133L|PXK_ENST00000479241.1_Missense_Mutation_p.R253L|PXK_ENST00000383716.3_Missense_Mutation_p.R237L|PXK_ENST00000383715.4_Missense_Mutation_p.R253L|PXK_ENST00000302779.5_Missense_Mutation_p.R253L	NM_017771.3	NP_060241.2			PX domain containing serine/threonine kinase									p.R270L(2)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)		ACATATGGACGGCAAATATTA	0.353																																						uc003djz.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(808-810)CGG>CTG		PX domain containing serine/threonine kinase							57.0	59.0	58.0					3																	58381473		2203	4300	6503	SO:0001583	missense	54899				cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission	centrosome|cytoplasm|nucleus|plasma membrane	actin binding|ATP binding|phosphatidylinositol binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity	g.chr3:58381473G>T	AY274811	CCDS2889.1, CCDS74952.1, CCDS74954.1, CCDS74955.1	3p21.2	2008-02-05			ENSG00000168297	ENSG00000168297			23326	protein-coding gene	gene with protein product		611450					Standard	XM_005265255		Approved	FLJ20335	uc003djz.1	Q7Z7A4	OTTHUMG00000159149	ENST00000356151.2:c.809G>T	3.37:g.58381473G>T	ENSP00000348472:p.Arg270Leu					PXK_uc003djx.1_Missense_Mutation_p.R270L|PXK_uc003djy.1_Missense_Mutation_p.R253L|PXK_uc003dka.1_Missense_Mutation_p.R270L|PXK_uc003dkb.1_Missense_Mutation_p.R187L|PXK_uc003dkc.1_Missense_Mutation_p.R253L|PXK_uc011bfe.1_Missense_Mutation_p.R237L|PXK_uc010hnj.1_Missense_Mutation_p.R237L|PXK_uc003dkd.1_Missense_Mutation_p.R133L|PXK_uc010hnk.1_Missense_Mutation_p.R44L	p.R270L	NM_017771	NP_060241	Q7Z7A4	PXK_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)	9	908	+			270			Protein kinase.			Missense_Mutation	SNP	ENST00000356151.2	37	c.809G>T	CCDS2889.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.3|29.3	4.992382|4.992382	0.93167|0.93167	.|.	.|.	ENSG00000168297|ENSG00000168297	ENST00000479134|ENST00000356151;ENST00000302779;ENST00000383716;ENST00000463280;ENST00000383715;ENST00000484288;ENST00000479241;ENST00000536660;ENST00000536750	.|T;T;T;T;T;T;T;T	.|0.63913	.|-0.07;-0.07;-0.07;-0.07;-0.07;-0.07;-0.07;-0.07	5.22|5.22	5.22|5.22	0.72569|0.72569	.|Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.76011|0.76011	0.3928|0.3928	L|L	0.60012|0.60012	1.86|1.86	0.80722|0.80722	D|D	1|1	.|P;B;B;D;B;D	.|0.76494	.|0.868;0.009;0.099;0.999;0.015;0.994	.|P;B;B;D;B;P	.|0.66351	.|0.536;0.025;0.127;0.943;0.017;0.773	T|T	0.76413|0.76413	-0.2968|-0.2968	5|10	.|0.52906	.|T	.|0.07	-13.7926|-13.7926	19.138|19.138	0.93436|0.93436	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|237;237;237;270;253;270	.|E9PD56;Q7Z7A4-6;B4DID9;Q7Z7A4;Q7Z7A4-4;Q7Z7A4-2	.|.;.;.;PXK_HUMAN;.;.	C|L	25|270;253;237;237;253;270;253;133;133	.|ENSP00000348472:R270L;ENSP00000305045:R253L;ENSP00000373222:R237L;ENSP00000417903:R237L;ENSP00000373221:R253L;ENSP00000417915:R270L;ENSP00000419049:R253L;ENSP00000438356:R133L	.|ENSP00000305045:R253L	G|R	+|+	1|2	0|0	PXK|PXK	58356513|58356513	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.977000|0.977000	0.68977|0.68977	5.869000|5.869000	0.69613|0.69613	2.606000|2.606000	0.88127|0.88127	0.514000|0.514000	0.50259|0.50259	GGC|CGG		PASS	0.353	PXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353499.1	NM_017771		7	33	7	33	---	---	---	---
PPP4R2	151987	broad.mit.edu	37	3	73114104	73114104	+	Missense_Mutation	SNP	G	G	C			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr3:73114104G>C	ENST00000356692.5	+	8	993	c.740G>C	c.(739-741)aGa>aCa	p.R247T	PPP4R2_ENST00000295862.9_Missense_Mutation_p.R191T|PPP4R2_ENST00000394284.3_Missense_Mutation_p.R190T			Q9NY27	PP4R2_HUMAN	protein phosphatase 4, regulatory subunit 2	247					cellular protein modification process (GO:0006464)|hematopoietic progenitor cell differentiation (GO:0002244)|mRNA processing (GO:0006397)|regulation of catalytic activity (GO:0050790)|regulation of double-strand break repair via homologous recombination (GO:0010569)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)	protein binding, bridging (GO:0030674)|protein phosphatase type 4 regulator activity (GO:0030362)	p.R247T(1)		breast(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)|urinary_tract(2)	12		Prostate(10;0.0187)|Lung SC(41;0.236)		Epithelial(33;1.76e-07)|BRCA - Breast invasive adenocarcinoma(55;9.42e-05)|LUSC - Lung squamous cell carcinoma(21;0.00211)|Lung(16;0.00643)|KIRC - Kidney renal clear cell carcinoma(39;0.0164)|Kidney(39;0.0193)|OV - Ovarian serous cystadenocarcinoma(275;0.031)		GAGGTAAAAAGACTCAGGTTT	0.433																																						uc003dph.1																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(739-741)AGA>ACA		protein phosphatase 4, regulatory subunit 2							59.0	61.0	60.0					3																	73114104		2203	4300	6503	SO:0001583	missense	151987				mRNA processing|protein modification process|regulation of double-strand break repair via homologous recombination|RNA splicing	centrosome|nucleus|protein phosphatase 4 complex	protein binding, bridging|protein phosphatase type 4 regulator activity	g.chr3:73114104G>C	AJ271448	CCDS2917.1	3q29	2010-06-18			ENSG00000163605	ENSG00000163605		"""Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"""	18296	protein-coding gene	gene with protein product		613822				10769191	Standard	NM_174907		Approved		uc003dph.1	Q9NY27	OTTHUMG00000158816	ENST00000356692.5:c.740G>C	3.37:g.73114104G>C	ENSP00000349124:p.Arg247Thr					PPP4R2_uc003dpi.1_Missense_Mutation_p.R190T	p.R247T	NM_174907	NP_777567	Q9NY27	PP4R2_HUMAN		Epithelial(33;1.76e-07)|BRCA - Breast invasive adenocarcinoma(55;9.42e-05)|LUSC - Lung squamous cell carcinoma(21;0.00211)|Lung(16;0.00643)|KIRC - Kidney renal clear cell carcinoma(39;0.0164)|Kidney(39;0.0193)|OV - Ovarian serous cystadenocarcinoma(275;0.031)	8	810	+		Prostate(10;0.0187)|Lung SC(41;0.236)	247					A8K1I6|Q2TAJ9|Q498B8|Q8WXX6	Missense_Mutation	SNP	ENST00000356692.5	37	c.740G>C	CCDS2917.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.8|22.8	4.331166|4.331166	0.81690|0.81690	.|.	.|.	ENSG00000163605|ENSG00000163605	ENST00000460360|ENST00000356692;ENST00000488810;ENST00000394284;ENST00000295862	.|T;T;T;T	.|0.43688	.|0.94;0.94;0.94;0.94	5.29|5.29	5.29|5.29	0.74685|0.74685	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.66107|0.66107	0.2756|0.2756	M|M	0.72479|0.72479	2.2|2.2	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.87578	.|0.998;0.998	T|T	0.68247|0.68247	-0.5459|-0.5459	5|10	.|0.66056	.|D	.|0.02	.|.	19.3048|19.3048	0.94157|0.94157	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|190;247	.|Q9NY27-2;Q9NY27	.|.;PP4R2_HUMAN	H|T	79|247;222;190;191	.|ENSP00000349124:R247T;ENSP00000418750:R222T;ENSP00000377825:R190T;ENSP00000295862:R191T	.|ENSP00000295862:R191T	D|R	+|+	1|2	0|0	PPP4R2|PPP4R2	73196794|73196794	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	8.860000|8.860000	0.92272|0.92272	2.622000|2.622000	0.88805|0.88805	0.650000|0.650000	0.86243|0.86243	GAC|AGA		PASS	0.433	PPP4R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352321.1	NM_174907		7	39	7	39	---	---	---	---
PDZRN3	23024	broad.mit.edu	37	3	73433601	73433601	+	Missense_Mutation	SNP	G	G	C			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr3:73433601G>C	ENST00000263666.4	-	10	2230	c.2116C>G	c.(2116-2118)Cac>Gac	p.H706D	PDZRN3_ENST00000466780.1_Missense_Mutation_p.H363D|PDZRN3_ENST00000462146.2_Missense_Mutation_p.H363D|PDZRN3_ENST00000466348.1_5'Flank|PDZRN3_ENST00000535920.1_Missense_Mutation_p.H428D|PDZRN3_ENST00000479530.1_Missense_Mutation_p.H423D	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	706					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.H706D(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TGCATCTTGTGGGCGCGCACG	0.617																																						uc003dpl.1																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|ovary(2)|skin(2)|large_intestine(1)	7						c.(2116-2118)CAC>GAC		PDZ domain containing ring finger 3							45.0	39.0	41.0					3																	73433601		2203	4300	6503	SO:0001583	missense	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73433601G>C	AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"""RING-type (C3HC4) zinc fingers"""	17704	protein-coding gene	gene with protein product	"""likely ortholog of mouse semaF cytoplasmic domain associated protein 3"""	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.2116C>G	3.37:g.73433601G>C	ENSP00000263666:p.His706Asp					PDZRN3_uc011bgh.1_Missense_Mutation_p.H363D|PDZRN3_uc010hoe.1_Missense_Mutation_p.H404D|PDZRN3_uc011bgf.1_Missense_Mutation_p.H423D|PDZRN3_uc011bgg.1_Missense_Mutation_p.H426D	p.H706D	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)	10	2212	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	706					A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Missense_Mutation	SNP	ENST00000263666.4	37	c.2116C>G	CCDS33789.1	.	.	.	.	.	.	.	.	.	.	G	19.88	3.908735	0.72868	.	.	ENSG00000121440	ENST00000263666;ENST00000535920;ENST00000462146;ENST00000466780;ENST00000479530;ENST00000492909	T;T;T;T;T;T	0.12879	2.64;3.35;3.26;3.26;3.36;3.31	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.43277	0.1240	M	0.84846	2.72	0.80722	D	1	D;D;D;D	0.89917	0.997;1.0;1.0;0.994	D;D;D;D	0.91635	0.972;0.996;0.999;0.985	T	0.45775	-0.9238	10	0.46703	T	0.11	.	17.7395	0.88404	0.0:0.0:1.0:0.0	.	428;423;423;706	F5H8I9;B7ZAG0;B7Z5X9;Q9UPQ7	.;.;.;PZRN3_HUMAN	D	706;428;363;363;423;404	ENSP00000263666:H706D;ENSP00000442026:H428D;ENSP00000418168:H363D;ENSP00000418484:H363D;ENSP00000418624:H423D;ENSP00000419250:H404D	ENSP00000263666:H706D	H	-	1	0	PDZRN3	73516291	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.558000	0.98132	2.276000	0.75962	0.591000	0.81541	CAC		PASS	0.617	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363		3	37	3	37	---	---	---	---
PROS1	5627	broad.mit.edu	37	3	93619761	93619761	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr3:93619761C>A	ENST00000394236.3	-	7	930	c.614G>T	c.(613-615)tGc>tTc	p.C205F	PROS1_ENST00000407433.1_Missense_Mutation_p.C74F	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	205	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|negative regulation of endopeptidase activity (GO:0010951)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|endopeptidase inhibitor activity (GO:0004866)	p.C205F(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	CTTCAAAGAGCATTCATCCAC	0.383																																						uc003drb.3																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(613-615)TGC>TTC		protein S, alpha preproprotein	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)						51.0	48.0	49.0					3																	93619761		2203	4300	6503	SO:0001583	missense	5627				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity	g.chr3:93619761C>A		CCDS2923.1	3q11.1	2013-06-03			ENSG00000184500	ENSG00000184500			9456	protein-coding gene	gene with protein product		176880		PROS		214811, 1833851	Standard	NM_000313		Approved		uc003drb.4	P07225	OTTHUMG00000150354	ENST00000394236.3:c.614G>T	3.37:g.93619761C>A	ENSP00000377783:p.Cys205Phe					PROS1_uc010hoo.2_Missense_Mutation_p.C74F|PROS1_uc003dqz.3_Missense_Mutation_p.C74F	p.C205F	NM_000313	NP_000304	P07225	PROS_HUMAN			7	955	-			205			EGF-like 3; calcium-binding (Potential).		A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	Missense_Mutation	SNP	ENST00000394236.3	37	c.614G>T	CCDS2923.1	.	.	.	.	.	.	.	.	.	.	C	16.45	3.126294	0.56721	.	.	ENSG00000184500	ENST00000394236;ENST00000407433	D;D	0.99445	-5.91;-5.91	4.19	4.19	0.49359	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.104827	0.64402	D	0.000002	D	0.99792	0.9912	H	0.99600	4.65	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.96444	0.9329	10	0.87932	D	0	.	17.061	0.86547	0.0:1.0:0.0:0.0	.	205	P07225	PROS_HUMAN	F	205;74	ENSP00000377783:C205F;ENSP00000385794:C74F	ENSP00000377783:C205F	C	-	2	0	PROS1	95102451	1.000000	0.71417	0.933000	0.37362	0.645000	0.38454	6.018000	0.70811	2.341000	0.79615	0.591000	0.81541	TGC		PASS	0.383	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317762.1	NM_000313		11	28	11	28	---	---	---	---
DCBLD2	131566	broad.mit.edu	37	3	98518445	98518445	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr3:98518445G>T	ENST00000326840.6	-	16	2461	c.2099C>A	c.(2098-2100)aCt>aAt	p.T700N	DCBLD2_ENST00000326857.9_Missense_Mutation_p.T714N	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	700					cell adhesion (GO:0007155)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cell growth (GO:0030308)|wound healing (GO:0042060)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)		p.T700N(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						AGCCTTGAAAGTGGATGTGGA	0.547																																						uc003dtd.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(2098-2100)ACT>AAT		discoidin, CUB and LCCL domain containing 2							157.0	159.0	158.0					3																	98518445		1936	4156	6092	SO:0001583	missense	131566				cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane		g.chr3:98518445G>T		CCDS46878.1	3q12.2	2006-04-12			ENSG00000057019	ENSG00000057019			24627	protein-coding gene	gene with protein product		608698				11447234	Standard	NM_080927		Approved	CLCP1, ESDN	uc003dtd.3	Q96PD2	OTTHUMG00000151985	ENST00000326840.6:c.2099C>A	3.37:g.98518445G>T	ENSP00000321573:p.Thr700Asn					DCBLD2_uc003dte.2_Missense_Mutation_p.T714N	p.T700N	NM_080927	NP_563615	Q96PD2	DCBD2_HUMAN			16	2462	-			700			Cytoplasmic (Potential).		B7WNL1|D3DN41|Q8N6M4|Q8TDX2	Missense_Mutation	SNP	ENST00000326840.6	37	c.2099C>A	CCDS46878.1	.	.	.	.	.	.	.	.	.	.	G	18.47	3.630975	0.67015	.	.	ENSG00000057019	ENST00000326840;ENST00000326857	T;T	0.37752	1.18;1.18	5.87	5.87	0.94306	.	0.122857	0.53938	D	0.000046	T	0.57681	0.2070	M	0.63428	1.95	0.48135	D	0.99959	D;P	0.76494	0.999;0.791	D;B	0.67382	0.951;0.342	T	0.54483	-0.8287	10	0.51188	T	0.08	-21.5064	17.712	0.88324	0.0:0.0:1.0:0.0	.	714;700	Q96PD2-2;Q96PD2	.;DCBD2_HUMAN	N	700;714	ENSP00000321573:T700N;ENSP00000321646:T714N	ENSP00000321573:T700N	T	-	2	0	DCBLD2	100001135	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.494000	0.60347	2.785000	0.95823	0.655000	0.94253	ACT		PASS	0.547	DCBLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324675.2	NM_080927		17	93	17	93	---	---	---	---
ATR	545	broad.mit.edu	37	3	142259785	142259786	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr3:142259785_142259786CC>AA	ENST00000350721.4	-	18	3662_3663	c.3541_3542GG>TT	c.(3541-3543)GGc>TTc	p.G1181F	ATR_ENST00000383101.3_Missense_Mutation_p.G1117F	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	1181					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.G1181V(1)|p.G1181F(1)|p.G1181C(1)		NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GAATCGAAGGCCAGTTCTCAGT	0.381								Other conserved DNA damage response genes																														uc003eux.3																			3	Substitution - Missense(3)		lung(3)	lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1)	20						c.(3541-3543)GGC>GTC|c.(3541-3543)GGC>TGC	Other_conserved_DNA_damage_response_genes	ataxia telangiectasia and Rad3 related protein																																				SO:0001583	missense	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142259785C>A|g.chr3:142259786C>A	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.3541_3542delinsAA	3.37:g.142259785_142259786delinsAA	ENSP00000343741:p.Gly1181Phe						p.G1181V|p.G1181C	NM_001184	NP_001175	Q13535	ATR_HUMAN			18	3664|3663	-			1181					Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	c.3542G>T|c.3541G>T	CCDS3124.1																																																																																				PASS	0.381	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		6	42|44	6	42	---	---	---	---
HLTF	6596	broad.mit.edu	37	3	148786123	148786123	+	Splice_Site	SNP	C	C	T			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr3:148786123C>T	ENST00000310053.5	-	8	1088		c.e8-1		HLTF_ENST00000494055.1_Splice_Site|HLTF_ENST00000465259.1_Splice_Site|HLTF_ENST00000392912.2_Splice_Site	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor						chromatin modification (GO:0016568)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.?(1)		breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			GAGTTTTACCCTTAAAAATGT	0.333																																						uc003ewq.1																			1	Unknown(1)		lung(1)	ovary(1)	1						c.e8-1		helicase-like transcription factor							85.0	92.0	90.0					3																	148786123		2203	4300	6503	SO:0001630	splice_region_variant	6596				chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr3:148786123C>T	L34673	CCDS33875.1	3q25.1-q26.1	2006-11-09	2006-11-09	2006-11-09	ENSG00000071794	ENSG00000071794		"""RING-type (C3HC4) zinc fingers"""	11099	protein-coding gene	gene with protein product		603257	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 3"""	SNF2L3, SMARCA3		7558014	Standard	NM_139048		Approved	HIP116A, HLTF1, RNF80	uc003ewr.1	Q14527	OTTHUMG00000159534	ENST00000310053.5:c.895-1G>A	3.37:g.148786123C>T						HLTF_uc003ewr.1_Splice_Site_p.G299_splice|HLTF_uc003ews.1_Splice_Site_p.G299_splice|HLTF_uc010hve.1_Splice_Site_p.G299_splice	p.G299_splice	NM_139048	NP_620636	Q14527	HLTF_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		8	1113	-								D3DNH3|Q14536|Q16051|Q7KYJ6|Q86YA5|Q92652|Q96KM9	Splice_Site	SNP	ENST00000310053.5	37	c.895_splice	CCDS33875.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.582356	0.86748	.	.	ENSG00000071794	ENST00000465259;ENST00000310053;ENST00000392912;ENST00000494055;ENST00000416117;ENST00000392913	.	.	.	6.01	6.01	0.97437	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4379	0.87557	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HLTF	150268813	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.673000	0.74482	2.861000	0.98227	0.650000	0.86243	.		PASS	0.333	HLTF-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356064.1		Intron	17	127	17	127	---	---	---	---
RNF13	11342	broad.mit.edu	37	3	149678729	149678729	+	Missense_Mutation	SNP	A	A	T			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr3:149678729A>T	ENST00000344229.3	+	11	1686	c.984A>T	c.(982-984)gaA>gaT	p.E328D	RNF13_ENST00000361785.6_Missense_Mutation_p.E209D|RNF13_ENST00000392894.3_Missense_Mutation_p.E328D	NM_007282.4	NP_009213.1	O43567	RNF13_HUMAN	ring finger protein 13	328					protein autoubiquitination (GO:0051865)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E328D(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	11		all_neural(597;0.0138)|Myeloproliferative disorder(1037;0.0255)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CTTTATCGGAATCCCGCTCAC	0.413																																						uc003exn.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(982-984)GAA>GAT		ring finger protein 13							94.0	82.0	86.0					3																	149678729		2203	4300	6503	SO:0001583	missense	11342				protein autoubiquitination	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane|nuclear inner membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr3:149678729A>T	AF037204	CCDS3146.1	3q25.1	2013-01-09			ENSG00000082996	ENSG00000082996		"""RING-type (C3HC4) zinc fingers"""	10057	protein-coding gene	gene with protein product		609247					Standard	NM_183381		Approved	RZF	uc003exp.4	O43567	OTTHUMG00000150338	ENST00000344229.3:c.984A>T	3.37:g.149678729A>T	ENSP00000341361:p.Glu328Asp					RNF13_uc003exp.3_Missense_Mutation_p.E328D|RNF13_uc010hvh.2_Missense_Mutation_p.E209D	p.E328D	NM_007282	NP_009213	O43567	RNF13_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)		11	1768	+		all_neural(597;0.0138)|Myeloproliferative disorder(1037;0.0255)	328			Cytoplasmic (Potential).		A6NC87|B3KR12|Q05D66|Q6IBJ9	Missense_Mutation	SNP	ENST00000344229.3	37	c.984A>T	CCDS3146.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.97|12.97	2.096435|2.096435	0.36952|0.36952	.|.	.|.	ENSG00000082996|ENSG00000082996	ENST00000392894;ENST00000344229;ENST00000491086;ENST00000361785;ENST00000482083|ENST00000468289	T;T;T;T;T|.	0.12672|.	3.68;3.68;2.71;2.66;2.71|.	5.52|5.52	0.595|0.595	0.17490|0.17490	.|.	0.217994|.	0.49305|.	D|.	0.000157|.	T|T	0.46870|0.46870	0.1415|0.1415	L|L	0.27053|0.27053	0.805|0.805	0.41929|0.41929	D|D	0.990553|0.990553	P;P|.	0.44986|.	0.847;0.61|.	B;B|.	0.42138|.	0.377;0.197|.	T|T	0.23797|0.23797	-1.0178|-1.0178	10|5	0.23891|.	T|.	0.37|.	-28.4985|-28.4985	10.3297|10.3297	0.43816|0.43816	0.5989:0.0:0.4011:0.0|0.5989:0.0:0.4011:0.0	.|.	209;328|.	B3KR12;O43567|.	.;RNF13_HUMAN|.	D|F	328;328;209;209;209|130	ENSP00000376628:E328D;ENSP00000341361:E328D;ENSP00000420667:E209D;ENSP00000355268:E209D;ENSP00000418863:E209D|.	ENSP00000341361:E328D|.	E|I	+|+	3|1	2|0	RNF13|RNF13	151161419|151161419	0.989000|0.989000	0.36119|0.36119	0.990000|0.990000	0.47175|0.47175	0.810000|0.810000	0.45777|0.45777	0.388000|0.388000	0.20735|0.20735	0.150000|0.150000	0.19136|0.19136	0.528000|0.528000	0.53228|0.53228	GAA|ATC		PASS	0.413	RNF13-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356876.1	NM_183384		5	65	5	65	---	---	---	---
ZBBX	79740	broad.mit.edu	37	3	167016091	167016091	+	Splice_Site	SNP	A	A	T			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr3:167016091A>T	ENST00000392766.2	-	18	2220		c.e18+1		ZBBX_ENST00000307529.5_Splice_Site|ZBBX_ENST00000392764.1_Splice_Site|ZBBX_ENST00000392767.2_Splice_Site|ZBBX_ENST00000455345.2_Splice_Site	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing							intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.?(2)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						CTAGAAATTTACCTGCAAGTG	0.328																																						uc003fep.2																			2	Unknown(2)		lung(2)	ovary(2)	2						c.e18+1		zinc finger, B-box domain containing							91.0	91.0	91.0					3																	167016091		1829	4081	5910	SO:0001630	splice_region_variant	79740					intracellular	zinc ion binding	g.chr3:167016091A>T	AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.1879+1T>A	3.37:g.167016091A>T						ZBBX_uc011bpc.1_Splice_Site_p.E627_splice|ZBBX_uc003feq.2_Splice_Site_p.G598_splice	p.G627_splice	NM_024687	NP_078963	A8MT70	ZBBX_HUMAN			18	2202	-								A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Splice_Site	SNP	ENST00000392766.2	37	c.1879_splice	CCDS3199.2	.	.	.	.	.	.	.	.	.	.	A	12.61	1.988704	0.35131	.	.	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000392764	.	.	.	4.89	4.89	0.63831	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.1779	0.48610	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZBBX	168498785	1.000000	0.71417	1.000000	0.80357	0.268000	0.26511	4.551000	0.60740	1.952000	0.56665	0.477000	0.44152	.		PASS	0.328	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3	NM_024687	Intron	12	60	12	60	---	---	---	---
TACC3	10460	broad.mit.edu	37	4	1730122	1730122	+	Silent	SNP	G	G	C	rs368079610		TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr4:1730122G>C	ENST00000313288.4	+	4	1099	c.993G>C	c.(991-993)tcG>tcC	p.S331S		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	331					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|cytoplasmic sequestering of transcription factor (GO:0042994)|hemopoiesis (GO:0030097)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of cell cycle (GO:0051726)|regulation of microtubule-based process (GO:0032886)|response to hypoxia (GO:0001666)	centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.S331S(1)		central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			CCAGCTCCTCGAGGAGCGGAC	0.597																																					Ovarian(120;482 2294 11894 35824)	uc003gdo.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(991-993)TCG>TCC		transforming, acidic coiled-coil containing							32.0	37.0	35.0					4																	1730122		2203	4298	6501	SO:0001819	synonymous_variant	10460					centrosome		g.chr4:1730122G>C	AF093543	CCDS3352.1	4p16.3	2008-07-29			ENSG00000013810	ENSG00000013810			11524	protein-coding gene	gene with protein product		605303				17675670	Standard	NM_006342		Approved	ERIC1	uc003gdo.3	Q9Y6A5	OTTHUMG00000089535	ENST00000313288.4:c.993G>C	4.37:g.1730122G>C						TACC3_uc010ibz.2_Silent_p.S331S|TACC3_uc003gdp.2_Intron|TACC3_uc010ica.2_5'Flank	p.S331S	NM_006342	NP_006333	Q9Y6A5	TACC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)		4	1101	+		Breast(71;0.212)|all_epithelial(65;0.241)	331					Q2NKK4|Q3KQS5|Q9UMQ1	Silent	SNP	ENST00000313288.4	37	c.993G>C	CCDS3352.1																																																																																				PASS	0.597	TACC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000203730.2			5	37	5	37	---	---	---	---
JAKMIP1	152789	broad.mit.edu	37	4	6107434	6107434	+	Silent	SNP	C	C	G			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr4:6107434C>G	ENST00000282924.5	-	3	875	c.390G>C	c.(388-390)acG>acC	p.T130T	JAKMIP1_ENST00000457227.2_Intron|JAKMIP1_ENST00000409371.3_Intron|JAKMIP1_ENST00000409021.3_Silent_p.T130T|JAKMIP1_ENST00000409831.1_Silent_p.T130T|JAKMIP1_ENST00000410077.2_Intron	NM_144720.3	NP_653321.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	130	Mediates association with microtubules.				cognition (GO:0050890)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|microtubule (GO:0005874)|ribonucleoprotein complex (GO:0030529)	GABA receptor binding (GO:0050811)|RNA binding (GO:0003723)	p.T130T(2)		NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCAGCAGCGCCGTCTTGACCT	0.716																																						uc003giu.3																			2	Substitution - coding silent(2)		lung(2)	large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4						c.(388-390)ACG>ACC		janus kinase and microtubule interacting protein							14.0	14.0	14.0					4																	6107434		2197	4282	6479	SO:0001819	synonymous_variant	152789				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding	g.chr4:6107434C>G	AK056126	CCDS3385.1, CCDS47005.1	4p16.1	2013-10-11	2009-08-13		ENSG00000152969	ENSG00000152969			26460	protein-coding gene	gene with protein product		611195				18941173	Standard	NM_144720		Approved	MARLIN1, JAMIP1, Gababrbp, FLJ31564	uc010idb.1	Q96N16	OTTHUMG00000125491	ENST00000282924.5:c.390G>C	4.37:g.6107434C>G						JAKMIP1_uc010idb.1_Silent_p.T130T|JAKMIP1_uc010idc.1_Intron|JAKMIP1_uc010idd.1_Silent_p.T130T|JAKMIP1_uc011bwc.1_Intron|JAKMIP1_uc003giv.3_Silent_p.T130T|JAKMIP1_uc010ide.2_Silent_p.T130T	p.T130T	NM_144720	NP_653321	Q96N16	JKIP1_HUMAN			3	666	-			130			Potential.|Mediates association with microtubules.		A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B4DHZ8|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	Silent	SNP	ENST00000282924.5	37	c.390G>C	CCDS3385.1																																																																																				PASS	0.716	JAKMIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246816.2	NM_144720		4	20	4	20	---	---	---	---
DRD5	1816	broad.mit.edu	37	4	9783788	9783788	+	Silent	SNP	C	C	T			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr4:9783788C>T	ENST00000304374.2	+	1	531	c.135C>T	c.(133-135)tgC>tgT	p.C45C		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	45					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)	p.C45C(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	TCACCGCCTGCCTGCTGACCC	0.692																																						uc003gmb.3																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(133-135)TGC>TGT		dopamine receptor D5	Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)						19.0	16.0	17.0					4																	9783788		2201	4299	6500	SO:0001819	synonymous_variant	1816				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		g.chr4:9783788C>T	X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"""GPCR / Class A : Dopamine receptors"""	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.135C>T	4.37:g.9783788C>T							p.C45C	NM_000798	NP_000789	P21918	DRD5_HUMAN			1	531	+			45			Helical; Name=1; (Potential).		B2R9S3|Q8NEQ8	Silent	SNP	ENST00000304374.2	37	c.135C>T	CCDS3405.1																																																																																				PASS	0.692	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1			4	17	4	17	---	---	---	---
CWH43	80157	broad.mit.edu	37	4	49040076	49040076	+	Missense_Mutation	SNP	A	A	G			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr4:49040076A>G	ENST00000226432.4	+	13	1865	c.1682A>G	c.(1681-1683)cAg>cGg	p.Q561R	CWH43_ENST00000513409.1_Missense_Mutation_p.Q534R	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	561					GPI anchor biosynthetic process (GO:0006506)	integral component of membrane (GO:0016021)		p.Q561R(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						AGGAAACTGCAGGCTATTGCT	0.363																																						uc003gyv.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(1681-1683)CAG>CGG		cell wall biogenesis 43 C-terminal homolog							130.0	136.0	134.0					4																	49040076		2203	4300	6503	SO:0001583	missense	80157				GPI anchor biosynthetic process	integral to membrane		g.chr4:49040076A>G		CCDS3486.1, CCDS68697.1	4p12-p11	2010-09-21			ENSG00000109182	ENSG00000109182			26133	protein-coding gene	gene with protein product						17714445, 17761529	Standard	NM_025087		Approved	FLJ21511, CWH43-C	uc003gyv.3	Q9H720	OTTHUMG00000128627	ENST00000226432.4:c.1682A>G	4.37:g.49040076A>G	ENSP00000226432:p.Gln561Arg					CWH43_uc011bzl.1_Missense_Mutation_p.Q534R	p.Q561R	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN			13	1864	+			561					B2RPD7	Missense_Mutation	SNP	ENST00000226432.4	37	c.1682A>G	CCDS3486.1	.	.	.	.	.	.	.	.	.	.	A	17.78	3.472413	0.63737	.	.	ENSG00000109182	ENST00000226432;ENST00000513409	T;T	0.38722	1.12;1.12	3.72	3.72	0.42706	Endonuclease/exonuclease/phosphatase (1);	0.000000	0.56097	D	0.000029	T	0.63094	0.2482	M	0.80847	2.515	0.38492	D	0.948009	D	0.71674	0.998	D	0.80764	0.994	T	0.69194	-0.5209	9	.	.	.	.	11.6604	0.51343	1.0:0.0:0.0:0.0	.	561	Q9H720	PG2IP_HUMAN	R	561;534	ENSP00000226432:Q561R;ENSP00000422802:Q534R	.	Q	+	2	0	CWH43	48734833	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	3.894000	0.56250	1.926000	0.55796	0.454000	0.30748	CAG		PASS	0.363	CWH43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250496.2	NM_025087		29	143	29	143	---	---	---	---
AMBN	258	broad.mit.edu	37	4	71467241	71467241	+	Missense_Mutation	SNP	C	C	T			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr4:71467241C>T	ENST00000322937.6	+	6	504	c.401C>T	c.(400-402)aCc>aTc	p.T134I	AMBN_ENST00000449493.2_Missense_Mutation_p.T119I	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	ameloblastin (enamel matrix protein)	134					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|odontogenesis of dentin-containing tooth (GO:0042475)	proteinaceous extracellular matrix (GO:0005578)	growth factor activity (GO:0008083)|structural constituent of tooth enamel (GO:0030345)	p.T134I(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			GCTGCAACCACCAACCAGGCC	0.547											OREG0016218	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003hfl.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(400-402)ACC>ATC		ameloblastin precursor							146.0	139.0	141.0					4																	71467241		2203	4300	6503	SO:0001583	missense	258				bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel	g.chr4:71467241C>T	AF209780	CCDS3543.1	4q21	2006-11-28	2006-04-27		ENSG00000178522	ENSG00000178522			452	protein-coding gene	gene with protein product		601259	"""ameloblastin, enamel matrix protein"""			9126491	Standard	NM_016519		Approved		uc003hfl.3	Q9NP70	OTTHUMG00000129913	ENST00000322937.6:c.401C>T	4.37:g.71467241C>T	ENSP00000313809:p.Thr134Ile		OREG0016218	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1130		p.T134I	NM_016519	NP_057603	Q9NP70	AMBN_HUMAN	Lung(101;0.235)		6	476	+			134					Q3B862|Q9H2X1|Q9H4L1	Missense_Mutation	SNP	ENST00000322937.6	37	c.401C>T	CCDS3543.1	.	.	.	.	.	.	.	.	.	.	C	9.254	1.041369	0.19669	.	.	ENSG00000178522	ENST00000322937;ENST00000538728;ENST00000449493	T;T	0.32988	1.43;1.43	5.62	1.8	0.24995	.	0.870147	0.09913	N	0.739594	T	0.17238	0.0414	N	0.08118	0	0.09310	N	1	B	0.24768	0.111	B	0.22152	0.038	T	0.25984	-1.0116	10	0.52906	T	0.07	-0.0126	10.3398	0.43870	0.14:0.4288:0.4312:0.0	.	134	Q9NP70	AMBN_HUMAN	I	134;134;119	ENSP00000313809:T134I;ENSP00000391234:T119I	ENSP00000313809:T134I	T	+	2	0	AMBN	71501830	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.374000	0.07484	0.088000	0.17205	0.563000	0.77884	ACC		PASS	0.547	AMBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252165.1	NM_016519		17	100	17	100	---	---	---	---
ANKRD17	26057	broad.mit.edu	37	4	73941987	73941987	+	Silent	SNP	T	T	C			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr4:73941987T>C	ENST00000358602.4	-	34	7889	c.7773A>G	c.(7771-7773)gcA>gcG	p.A2591A	ANKRD17_ENST00000509867.2_Silent_p.A2478A|ANKRD17_ENST00000330838.6_Silent_p.A2340A	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	2591					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.A2591A(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TCATGTGAGGTGCCCAGGGTC	0.378																																						uc003hgp.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10						c.(7771-7773)GCA>GCG		ankyrin repeat domain protein 17 isoform a							70.0	63.0	65.0					4																	73941987		2203	4300	6503	SO:0001819	synonymous_variant	26057				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	g.chr4:73941987T>C	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.7773A>G	4.37:g.73941987T>C						ANKRD17_uc003hgo.2_Silent_p.A2478A|ANKRD17_uc003hgq.2_Silent_p.A2340A|ANKRD17_uc003hgr.2_Silent_p.A2590A	p.A2591A	NM_032217	NP_115593	O75179	ANR17_HUMAN	Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		34	7890	-	Breast(15;0.000295)		2591					E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Silent	SNP	ENST00000358602.4	37	c.7773A>G	CCDS34004.1																																																																																				PASS	0.378	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		3	13	3	13	---	---	---	---
ANKRD17	26057	broad.mit.edu	37	4	74005579	74005579	+	Silent	SNP	T	T	G			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr4:74005579T>G	ENST00000358602.4	-	15	2870	c.2754A>C	c.(2752-2754)ggA>ggC	p.G918G	ANKRD17_ENST00000509867.2_Silent_p.G805G|ANKRD17_ENST00000330838.6_Intron|ANKRD17_ENST00000514252.1_5'UTR	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	918	Gln-rich.				blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.G918G(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AAAGCTGCTCTCCAACTCCAA	0.463																																						uc003hgp.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10						c.(2752-2754)GGA>GGC		ankyrin repeat domain protein 17 isoform a							130.0	121.0	124.0					4																	74005579		2203	4300	6503	SO:0001819	synonymous_variant	26057				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	g.chr4:74005579T>G	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.2754A>C	4.37:g.74005579T>G						ANKRD17_uc003hgo.2_Silent_p.G805G|ANKRD17_uc003hgq.2_Intron|ANKRD17_uc003hgr.2_Silent_p.G918G|ANKRD17_uc011cbd.1_Silent_p.G483G	p.G918G	NM_032217	NP_115593	O75179	ANR17_HUMAN	Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		15	2871	-	Breast(15;0.000295)		918			Gln-rich.		E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Silent	SNP	ENST00000358602.4	37	c.2754A>C	CCDS34004.1																																																																																				PASS	0.463	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		12	79	12	79	---	---	---	---
ENPEP	2028	broad.mit.edu	37	4	111482632	111482632	+	Missense_Mutation	SNP	C	C	T			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr4:111482632C>T	ENST00000265162.5	+	20	3134	c.2792C>T	c.(2791-2793)aCa>aTa	p.T931I	ENPEP_ENST00000504100.1_3'UTR	NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	931					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.T931I(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		GTGCTGGAAACAGTGAAAAAC	0.363																																						uc003iab.3																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)|breast(1)	5						c.(2791-2793)ACA>ATA		glutamyl aminopeptidase	L-Glutamic Acid(DB00142)						104.0	103.0	103.0					4																	111482632		2203	4300	6503	SO:0001583	missense	2028				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding	g.chr4:111482632C>T	L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"""CD molecules"""	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.2792C>T	4.37:g.111482632C>T	ENSP00000265162:p.Thr931Ile						p.T931I	NM_001977	NP_001968	Q07075	AMPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	20	3134	+		Hepatocellular(203;0.217)	931			Extracellular (Potential).		Q504U2	Missense_Mutation	SNP	ENST00000265162.5	37	c.2792C>T	CCDS3691.1	.	.	.	.	.	.	.	.	.	.	C	19.62	3.861878	0.71949	.	.	ENSG00000138792	ENST00000265162	T	0.01422	4.91	5.14	5.14	0.70334	.	0.093156	0.64402	D	0.000001	T	0.08447	0.0210	M	0.80847	2.515	0.49582	D	0.999806	D	0.69078	0.997	D	0.70716	0.97	T	0.00862	-1.1536	10	0.52906	T	0.07	.	14.5639	0.68162	0.1469:0.8531:0.0:0.0	.	931	Q07075	AMPE_HUMAN	I	931	ENSP00000265162:T931I	ENSP00000265162:T931I	T	+	2	0	ENPEP	111702081	1.000000	0.71417	0.996000	0.52242	0.976000	0.68499	5.104000	0.64584	2.547000	0.85894	0.655000	0.94253	ACA		PASS	0.363	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255747.2			5	25	5	25	---	---	---	---
NDST4	64579	broad.mit.edu	37	4	115856388	115856388	+	Missense_Mutation	SNP	G	G	C			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr4:115856388G>C	ENST00000264363.2	-	6	2188	c.1510C>G	c.(1510-1512)Ctt>Gtt	p.L504V		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	504	Heparan sulfate N-deacetylase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)	p.L504V(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		GTGAGAAAAAGTTCACCTCCT	0.368																																						uc003ibu.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)	4						c.(1510-1512)CTT>GTT		heparan sulfate N-deacetylase/N-sulfotransferase							199.0	201.0	200.0					4																	115856388		2203	4300	6503	SO:0001583	missense	64579					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:115856388G>C	AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"""Sulfotransferases, membrane-bound"""	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.1510C>G	4.37:g.115856388G>C	ENSP00000264363:p.Leu504Val					NDST4_uc010imw.2_RNA	p.L504V	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000562)	6	2189	-		Ovarian(17;0.156)	504			Lumenal (Potential).|Heparan sulfate N-deacetylase 4.		Q2KHM8	Missense_Mutation	SNP	ENST00000264363.2	37	c.1510C>G	CCDS3706.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.613695	0.87359	.	.	ENSG00000138653	ENST00000264363	T	0.58652	0.32	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.81221	0.4777	M	0.91510	3.215	0.80722	D	1	D	0.67145	0.996	D	0.69142	0.962	D	0.86075	0.1540	10	0.87932	D	0	.	18.5549	0.91080	0.0:0.0:1.0:0.0	.	504	Q9H3R1	NDST4_HUMAN	V	504	ENSP00000264363:L504V	ENSP00000264363:L504V	L	-	1	0	NDST4	116075837	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.952000	0.87827	2.359000	0.80004	0.591000	0.81541	CTT		PASS	0.368	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569		8	52	8	52	---	---	---	---
PCDH10	57575	broad.mit.edu	37	4	134075494	134075494	+	Silent	SNP	A	A	T			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr4:134075494A>T	ENST00000264360.5	+	2	3490	c.2664A>T	c.(2662-2664)ctA>ctT	p.L888L		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	888					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L888L(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		TCAGCTATCTAGTTGACAGAC	0.378																																						uc003iha.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(2662-2664)CTA>CTT		protocadherin 10 isoform 1 precursor							77.0	75.0	76.0					4																	134075494		2203	4300	6503	SO:0001819	synonymous_variant	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134075494A>T	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.2664A>T	4.37:g.134075494A>T							p.L888L	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	2	3490	+			888			Cytoplasmic (Potential).		Q4W5F6|Q96SF0	Silent	SNP	ENST00000264360.5	37	c.2664A>T	CCDS34063.1																																																																																				PASS	0.378	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		6	32	6	32	---	---	---	---
FSTL5	56884	broad.mit.edu	37	4	162841620	162841620	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr4:162841620G>T	ENST00000306100.5	-	4	781	c.345C>A	c.(343-345)caC>caA	p.H115Q	FSTL5_ENST00000536695.1_Missense_Mutation_p.H114Q|FSTL5_ENST00000427802.2_Missense_Mutation_p.H114Q|FSTL5_ENST00000379164.4_Missense_Mutation_p.H114Q	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	115	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.H115Q(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		AAGCAGCTCTGTGCACTTCAC	0.438																																						uc003iqh.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8						c.(343-345)CAC>CAA		follistatin-like 5 isoform a							144.0	130.0	135.0					4																	162841620		2203	4300	6503	SO:0001583	missense	56884					extracellular region	calcium ion binding	g.chr4:162841620G>T	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.345C>A	4.37:g.162841620G>T	ENSP00000305334:p.His115Gln					FSTL5_uc003iqi.2_Missense_Mutation_p.H114Q|FSTL5_uc010iqv.2_Missense_Mutation_p.H114Q	p.H115Q	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	4	781	-	all_hematologic(180;0.24)		115			Kazal-like.		E9PCP6|Q9NSW7|Q9ULF7	Missense_Mutation	SNP	ENST00000306100.5	37	c.345C>A	CCDS3802.1	.	.	.	.	.	.	.	.	.	.	G	17.99	3.524042	0.64747	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	T;T;T;T	0.03772	3.81;3.81;3.81;3.81	5.86	5.0	0.66597	Proteinase inhibitor I1, Kazal (1);Protease inhibitor, Kazal-type (1);	0.000000	0.85682	D	0.000000	T	0.13543	0.0328	L	0.45470	1.425	0.58432	D	0.999991	D;D;D	0.76494	0.984;0.999;0.991	P;D;D	0.69479	0.855;0.964;0.93	T	0.00668	-1.1618	10	0.87932	D	0	.	9.9338	0.41539	0.1589:0.0:0.8411:0.0	.	114;114;115	E9PCP6;F8VZ90;Q8N475	.;.;FSTL5_HUMAN	Q	115;114;114;114	ENSP00000305334:H115Q;ENSP00000368462:H114Q;ENSP00000389270:H114Q;ENSP00000440409:H114Q	ENSP00000305334:H115Q	H	-	3	2	FSTL5	163061070	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.201000	0.42734	1.557000	0.49525	0.650000	0.86243	CAC		PASS	0.438	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116		8	45	8	45	---	---	---	---
ADAMTS16	170690	broad.mit.edu	37	5	5237108	5237108	+	Missense_Mutation	SNP	A	A	G			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr5:5237108A>G	ENST00000274181.7	+	14	2188	c.2050A>G	c.(2050-2052)Atc>Gtc	p.I684V	ADAMTS16_ENST00000513709.1_Intron	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	684	Cys-rich.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.I684V(2)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						ACTCTACTGTATCGCAGAAGG	0.338																																						uc003jdl.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						c.(2050-2052)ATC>GTC		ADAM metallopeptidase with thrombospondin type 1							154.0	141.0	145.0					5																	5237108		1853	4091	5944	SO:0001583	missense	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5237108A>G	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.2050A>G	5.37:g.5237108A>G	ENSP00000274181:p.Ile684Val					ADAMTS16_uc003jdk.1_Missense_Mutation_p.I684V|ADAMTS16_uc010itk.1_Intron	p.I684V	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN			14	2188	+			684			Cys-rich.		C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	c.2050A>G	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	A	12.75	2.030314	0.35797	.	.	ENSG00000145536	ENST00000274181;ENST00000536857	T	0.58940	0.3	5.75	4.59	0.56863	.	0.063549	0.64402	D	0.000007	T	0.61788	0.2375	M	0.71581	2.175	0.32701	N	0.512845	P;P	0.41524	0.702;0.753	B;P	0.46299	0.182;0.511	T	0.70673	-0.4807	10	0.39692	T	0.17	.	10.7842	0.46395	0.9247:0.0:0.0753:0.0	.	684;684	Q8TE57;Q8TE57-2	ATS16_HUMAN;.	V	684	ENSP00000274181:I684V	ENSP00000274181:I684V	I	+	1	0	ADAMTS16	5290108	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	3.310000	0.51911	1.010000	0.39314	-0.250000	0.11733	ATC		PASS	0.338	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		7	103	7	103	---	---	---	---
CDH12	1010	broad.mit.edu	37	5	22078623	22078623	+	Missense_Mutation	SNP	C	C	A	rs147912407		TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr5:22078623C>A	ENST00000382254.1	-	5	1249	c.163G>T	c.(163-165)Ggc>Tgc	p.G55C	CDH12_ENST00000522262.1_Missense_Mutation_p.G55C|CDH12_ENST00000504376.2_Missense_Mutation_p.G55C	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	55	Cadherin 1. {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.G55C(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						CATACCCAGCCACGTTTAACA	0.468										HNSCC(59;0.17)																												uc010iuc.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(163-165)GGC>TGC		cadherin 12, type 2 preproprotein							156.0	155.0	155.0					5																	22078623		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.chr5:22078623C>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.163G>T	5.37:g.22078623C>A	ENSP00000371689:p.Gly55Cys	HNSCC(59;0.17)				CDH12_uc011cno.1_Missense_Mutation_p.G55C|CDH12_uc003jgk.2_Missense_Mutation_p.G55C	p.G55C	NM_004061	NP_004052	P55289	CAD12_HUMAN			2	621	-			55			Cadherin 1.|Extracellular (Potential).		B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	ENST00000382254.1	37	c.163G>T	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.737488	0.89482	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.00792	5.69;5.69;5.69	5.5	5.5	0.81552	Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.04318	0.0119	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.995;1.0	T	0.41106	-0.9527	10	0.87932	D	0	.	19.3983	0.94617	0.0:1.0:0.0:0.0	.	55;55	B7Z2U6;P55289	.;CAD12_HUMAN	C	55	ENSP00000423577:G55C;ENSP00000371689:G55C;ENSP00000428786:G55C	ENSP00000371689:G55C	G	-	1	0	CDH12	22114380	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.294000	0.78760	2.596000	0.87737	0.650000	0.86243	GGC		PASS	0.468	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		63	93	63	93	---	---	---	---
ADAMTS12	81792	broad.mit.edu	37	5	33624455	33624455	+	Splice_Site	SNP	A	A	C			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr5:33624455A>C	ENST00000504830.1	-	14	2359	c.2024T>G	c.(2023-2025)aTg>aGg	p.M675R	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Intron	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	675	Cys-rich.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.M675R(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						ACAGCCAACCATCTGTGGGGA	0.532										HNSCC(64;0.19)																												uc003jia.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(2023-2025)ATG>AGG		ADAM metallopeptidase with thrombospondin type 1							95.0	69.0	78.0					5																	33624455		2203	4300	6503	SO:0001630	splice_region_variant	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33624455A>C	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.2023-1T>G	5.37:g.33624455A>C		HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Intron	p.M675R	NM_030955	NP_112217	P58397	ATS12_HUMAN			14	2187	-			675			Cys-rich.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.2024T>G	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	A	2.900	-0.227671	0.06022	.	.	ENSG00000151388	ENST00000504830	T	0.66995	-0.24	5.87	2.1	0.27182	.	0.671848	0.17235	N	0.181783	T	0.27524	0.0676	N	0.01168	-0.975	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.03898	-1.0994	10	0.15066	T	0.55	.	0.2845	0.00249	0.3985:0.1501:0.1793:0.2721	.	675	P58397	ATS12_HUMAN	R	675	ENSP00000422554:M675R	ENSP00000422554:M675R	M	-	2	0	ADAMTS12	33660212	0.000000	0.05858	0.992000	0.48379	0.340000	0.28889	-0.350000	0.07721	0.184000	0.20083	0.533000	0.62120	ATG		PASS	0.532	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955	Missense_Mutation	5	34	5	34	---	---	---	---
ADAMTS12	81792	broad.mit.edu	37	5	33649789	33649789	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr5:33649789G>T	ENST00000504830.1	-	8	1539	c.1204C>A	c.(1204-1206)Cat>Aat	p.H402N	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.H402N	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	402	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.H402N(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TTCCCATCATGCTGGATGCCG	0.512										HNSCC(64;0.19)																												uc003jia.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(1204-1206)CAT>AAT		ADAM metallopeptidase with thrombospondin type 1							126.0	111.0	116.0					5																	33649789		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33649789G>T	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.1204C>A	5.37:g.33649789G>T	ENSP00000422554:p.His402Asn	HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Missense_Mutation_p.H402N	p.H402N	NM_030955	NP_112217	P58397	ATS12_HUMAN			8	1367	-			402			Peptidase M12B.	Zinc; catalytic (By similarity).	A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.1204C>A	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.091204	0.76756	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	D;D	0.97138	-4.26;-4.26	5.73	5.73	0.89815	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	D	0.99118	0.9696	H	0.96996	3.92	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.99072	1.0834	10	0.87932	D	0	.	19.895	0.96954	0.0:0.0:1.0:0.0	.	402;402	P58397-3;P58397	.;ATS12_HUMAN	N	402	ENSP00000422554:H402N;ENSP00000344847:H402N	ENSP00000344847:H402N	H	-	1	0	ADAMTS12	33685546	1.000000	0.71417	1.000000	0.80357	0.337000	0.28794	9.717000	0.98755	2.709000	0.92574	0.542000	0.68232	CAT		PASS	0.512	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		20	36	20	36	---	---	---	---
C6	729	broad.mit.edu	37	5	41181587	41181587	+	Silent	SNP	T	T	C			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr5:41181587T>C	ENST00000263413.3	-	7	1065	c.801A>G	c.(799-801)caA>caG	p.Q267Q	C6_ENST00000337836.5_Silent_p.Q267Q|C6_ENST00000475349.1_5'UTR	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	267	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)		p.Q267Q(1)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				ATGAGCCTTGTTGATTTTCAT	0.358																																						uc003jmk.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(2)|skin(2)	7						c.(799-801)CAA>CAG		complement component 6 precursor							76.0	74.0	75.0					5																	41181587		2203	4300	6503	SO:0001819	synonymous_variant	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41181587T>C	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.801A>G	5.37:g.41181587T>C						C6_uc003jml.1_Silent_p.Q267Q	p.Q267Q	NM_000065	NP_000056	P13671	CO6_HUMAN			7	1011	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	267			MACPF.			Silent	SNP	ENST00000263413.3	37	c.801A>G	CCDS3936.1																																																																																				PASS	0.358	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			28	40	28	40	---	---	---	---
VCAN	1462	broad.mit.edu	37	5	82816206	82816206	+	Missense_Mutation	SNP	T	T	C			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr5:82816206T>C	ENST00000265077.3	+	7	2646	c.2081T>C	c.(2080-2082)aTg>aCg	p.M694T	VCAN_ENST00000342785.4_Missense_Mutation_p.M694T|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.M646T	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	694	GAG-alpha (glucosaminoglycan attachment domain).				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)	p.M694T(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	ATACCAGAGATGAGAACAGAT	0.333																																						uc003kii.3																			1	Substitution - Missense(1)		lung(1)	ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16						c.(2080-2082)ATG>ACG		versican isoform 1 precursor							52.0	54.0	53.0					5																	82816206		2189	4291	6480	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82816206T>C	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.2081T>C	5.37:g.82816206T>C	ENSP00000265077:p.Met694Thr					VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.M694T|VCAN_uc003kik.3_Intron	p.M694T	NM_004385	NP_004376	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	7	2437	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	694			GAG-alpha (glucosaminoglycan attachment domain).		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.2081T>C	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	T	4.478	0.088596	0.08583	.	.	ENSG00000038427	ENST00000265077;ENST00000342785;ENST00000512590	T;T;T	0.18960	2.18;2.18;2.18	5.54	-1.74	0.08056	.	1.205380	0.05820	N	0.615516	T	0.14270	0.0345	L	0.54323	1.7	0.09310	N	1	B;B	0.29162	0.235;0.081	B;B	0.25614	0.062;0.028	T	0.28073	-1.0055	10	0.09084	T	0.74	.	1.4895	0.02453	0.1275:0.1652:0.2541:0.4533	.	694;694	P13611-3;P13611	.;CSPG2_HUMAN	T	694;694;646	ENSP00000265077:M694T;ENSP00000342768:M694T;ENSP00000425959:M646T	ENSP00000265077:M694T	M	+	2	0	VCAN	82851962	0.007000	0.16637	0.006000	0.13384	0.367000	0.29736	0.729000	0.26028	0.044000	0.15775	0.533000	0.62120	ATG		PASS	0.333	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		7	39	7	39	---	---	---	---
ZNF608	57507	broad.mit.edu	37	5	123982838	123982838	+	Missense_Mutation	SNP	T	T	C			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr5:123982838T>C	ENST00000306315.5	-	4	3674	c.3239A>G	c.(3238-3240)tAt>tGt	p.Y1080C	ZNF608_ENST00000504926.1_Missense_Mutation_p.Y653C|ZNF608_ENST00000513985.1_5'Flank	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	1080							metal ion binding (GO:0046872)	p.Y1080C(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		ATACTGGCCATAATAAAGTGA	0.483																																						uc003ktq.1																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|lung(1)	6						c.(3238-3240)TAT>TGT		zinc finger protein 608							67.0	64.0	65.0					5																	123982838		2203	4300	6503	SO:0001583	missense	57507					intracellular	zinc ion binding	g.chr5:123982838T>C	AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"""Zinc fingers, C2H2-type"""	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.3239A>G	5.37:g.123982838T>C	ENSP00000307746:p.Tyr1080Cys					ZNF608_uc003ktr.1_Intron|ZNF608_uc003kts.1_Missense_Mutation_p.Y1080C|ZNF608_uc003ktt.1_Missense_Mutation_p.Y1080C|ZNF608_uc003ktp.1_5'Flank	p.Y1080C	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)	4	3362	-		all_cancers(142;0.186)|Prostate(80;0.081)	1080					A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Missense_Mutation	SNP	ENST00000306315.5	37	c.3239A>G	CCDS34219.1	.	.	.	.	.	.	.	.	.	.	T	17.25	3.340823	0.60963	.	.	ENSG00000168916	ENST00000504926;ENST00000306315	T;T	0.69435	-0.39;-0.4	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.81645	0.4866	M	0.73962	2.25	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.83652	0.0156	10	0.66056	D	0.02	-14.4817	16.0213	0.80499	0.0:0.0:0.0:1.0	.	1080	Q9ULD9	ZN608_HUMAN	C	653;1080	ENSP00000427657:Y653C;ENSP00000307746:Y1080C	ENSP00000307746:Y1080C	Y	-	2	0	ZNF608	124010737	1.000000	0.71417	0.784000	0.31847	0.973000	0.67179	7.980000	0.88113	2.239000	0.73571	0.523000	0.50628	TAT		PASS	0.483	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1	XM_114432		8	37	8	37	---	---	---	---
PCDHB16	57717	broad.mit.edu	37	5	140564188	140564188	+	Missense_Mutation	SNP	C	C	T			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr5:140564188C>T	ENST00000361016.2	+	1	3209	c.2054C>T	c.(2053-2055)tCg>tTg	p.S685L		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	685					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S685L(1)		breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAGGCCAACTCGCTCACTGTC	0.692																																						uc003liv.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(2053-2055)TCG>TTG		protocadherin beta 16 precursor							58.0	63.0	61.0					5																	140564188		2200	4300	6500	SO:0001583	missense	57717				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140564188C>T	AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.2054C>T	5.37:g.140564188C>T	ENSP00000354293:p.Ser685Leu					PCDHB9_uc003liw.1_5'Flank	p.S685L	NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	3209	+			685			Extracellular (Potential).		B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Missense_Mutation	SNP	ENST00000361016.2	37	c.2054C>T	CCDS4251.1	.	.	.	.	.	.	.	.	.	.	c	9.441	1.088114	0.20390	.	.	ENSG00000196963	ENST00000361016	T	0.53423	0.62	3.7	2.82	0.32997	.	1.005940	0.08024	N	0.992481	T	0.40670	0.1126	L	0.49640	1.575	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.30995	-0.9959	10	0.35671	T	0.21	.	6.0649	0.19858	0.0:0.6709:0.1805:0.1486	.	685	Q9NRJ7	PCDBG_HUMAN	L	685	ENSP00000354293:S685L	ENSP00000354293:S685L	S	+	2	0	PCDHB16	140544372	0.000000	0.05858	0.023000	0.16930	0.171000	0.22731	-0.651000	0.05372	0.536000	0.28733	-0.422000	0.05995	TCG		PASS	0.692	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		5	92	5	92	---	---	---	---
KIF4B	285643	broad.mit.edu	37	5	154395721	154395721	+	Missense_Mutation	SNP	C	C	T			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr5:154395721C>T	ENST00000435029.4	+	1	2462	c.2302C>T	c.(2302-2304)Ctt>Ttt	p.L768F		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	768	Interaction with PRC1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)	p.L768F(2)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GAATGACCTCCTTGAAGACAG	0.453																																						uc010jih.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(2302-2304)CTT>TTT		kinesin family member 4B							71.0	69.0	70.0					5																	154395721		2203	4300	6503	SO:0001583	missense	285643				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	g.chr5:154395721C>T	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"""Kinesins"""	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.2302C>T	5.37:g.154395721C>T	ENSP00000387875:p.Leu768Phe						p.L768F	NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		1	2462	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	768			Interaction with PRC1 (By similarity).|Potential.			Missense_Mutation	SNP	ENST00000435029.4	37	c.2302C>T	CCDS47324.1	.	.	.	.	.	.	.	.	.	.	c	17.11	3.305792	0.60305	.	.	ENSG00000226650	ENST00000435029	T	0.70399	-0.48	2.14	2.14	0.27477	.	.	.	.	.	T	0.79052	0.4381	M	0.68593	2.085	0.58432	D	0.999999	D	0.64830	0.994	D	0.66602	0.945	T	0.79711	-0.1689	9	0.66056	D	0.02	.	10.3225	0.43775	0.0:1.0:0.0:0.0	.	768	Q2VIQ3	KIF4B_HUMAN	F	768	ENSP00000387875:L768F	ENSP00000387875:L768F	L	+	1	0	KIF4B	154375914	1.000000	0.71417	0.998000	0.56505	0.959000	0.62525	4.730000	0.62015	1.138000	0.42230	0.563000	0.77884	CTT		PASS	0.453	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			6	23	6	23	---	---	---	---
KIAA0319	9856	broad.mit.edu	37	6	24556934	24556934	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr6:24556934G>T	ENST00000378214.3	-	18	3282	c.2758C>A	c.(2758-2760)Cat>Aat	p.H920N	KIAA0319_ENST00000430948.2_Missense_Mutation_p.H875N|KIAA0319_ENST00000535378.1_Missense_Mutation_p.H911N|KIAA0319_ENST00000543707.1_Missense_Mutation_p.H920N|KIAA0319_ENST00000537886.1_Missense_Mutation_p.H920N	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	920					negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.H920N(1)		breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						CAGTGACCATGGCCAGAACAC	0.502																																						uc011djo.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(2758-2760)CAT>AAT		KIAA0319 precursor							87.0	78.0	81.0					6																	24556934		2203	4300	6503	SO:0001583	missense	9856				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding	g.chr6:24556934G>T	AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261			21580	protein-coding gene	gene with protein product	"""neuronal migration"""	609269				9205841, 15514892	Standard	NM_014809		Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.2758C>A	6.37:g.24556934G>T	ENSP00000367459:p.His920Asn					KIAA0319_uc011djp.1_Missense_Mutation_p.H875N|KIAA0319_uc003neh.1_Missense_Mutation_p.H920N|KIAA0319_uc011djq.1_Missense_Mutation_p.H911N|KIAA0319_uc011djr.1_Missense_Mutation_p.H920N|KIAA0319_uc010jpt.1_Missense_Mutation_p.H331N	p.H920N	NM_014809	NP_055624	Q5VV43	K0319_HUMAN			18	2995	-			920			Extracellular (Potential).		A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Missense_Mutation	SNP	ENST00000378214.3	37	c.2758C>A	CCDS34348.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400512	0.62177	.	.	ENSG00000137261	ENST00000537886;ENST00000535378;ENST00000430948;ENST00000378214;ENST00000543707	T;T;T;T;T	0.11385	2.83;2.79;2.8;2.78;2.78	4.02	4.02	0.46733	.	0.218400	0.39985	N	0.001212	T	0.28599	0.0708	M	0.84082	2.675	0.58432	D	0.999998	D;D;D	0.71674	0.998;0.998;0.997	D;D;D	0.81914	0.995;0.991;0.98	T	0.21348	-1.0248	10	0.87932	D	0	-15.5456	16.7505	0.85484	0.0:0.0:1.0:0.0	.	920;911;920	F5H123;Q5VV43-2;Q5VV43	.;.;K0319_HUMAN	N	920;911;875;920;920	ENSP00000439700:H920N;ENSP00000442403:H911N;ENSP00000401086:H875N;ENSP00000367459:H920N;ENSP00000437656:H920N	ENSP00000367459:H920N	H	-	1	0	KIAA0319	24664913	1.000000	0.71417	0.984000	0.44739	0.309000	0.27889	6.765000	0.74965	2.226000	0.72624	0.555000	0.69702	CAT		PASS	0.502	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040009.1	NM_014809		6	29	6	29	---	---	---	---
HIST1H2AH	85235	broad.mit.edu	37	6	27114908	27114908	+	Start_Codon_SNP	SNP	A	A	G			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr6:27114908A>G	ENST00000377459.1	+	1	48	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	HIST1H2BK_ENST00000356950.1_5'Flank|MIR3143_ENST00000584253.1_RNA|HIST1H2BK_ENST00000396891.4_5'Flank	NM_080596.1	NP_542163.1	Q96KK5	H2A1H_HUMAN	histone cluster 1, H2ah	1						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.M1V(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|prostate(1)|skin(1)	12						TGTGACCAGTATGTCTGGACG	0.542																																						uc003niz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1-3)ATG>GTG		histone cluster 1, H2ah							65.0	72.0	70.0					6																	27114908		2203	4300	6503	SO:0001582	initiator_codon_variant	85235				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27114908A>G	AY131988	CCDS4622.1	6p22.1	2011-01-27	2006-10-11			ENSG00000274997		"""Histones / Replication-dependent"""	13671	protein-coding gene	gene with protein product		615013	"""histone 1, H2ah"""			12408966	Standard	NM_080596		Approved	H2AFALii, dJ86C11.1, H2A/S	uc003niz.4	Q96KK5		ENST00000377459.1:c.1A>G	6.37:g.27114908A>G	ENSP00000366679:p.Met1Val					HIST1H2BK_uc003nix.1_5'Flank|hsa-mir-3143|MI0014167_5'Flank	p.M1V	NM_080596	NP_542163	Q96KK5	H2A1H_HUMAN			1	1	+			1						Missense_Mutation	SNP	ENST00000377459.1	37	c.1A>G	CCDS4622.1	.	.	.	.	.	.	.	.	.	.	A	7.727	0.698409	0.15106	.	.	ENSG00000184825	ENST00000377459	D	0.92647	-3.08	3.95	3.95	0.45737	.	0.000000	0.49916	D	0.000135	D	0.83834	0.5340	.	.	.	0.80722	D	1	B	0.12630	0.006	B	0.17722	0.019	D	0.84563	0.0651	9	0.87932	D	0	.	11.4199	0.49976	1.0:0.0:0.0:0.0	.	1	Q96KK5	H2A1H_HUMAN	V	1	ENSP00000366679:M1V	ENSP00000366679:M1V	M	+	1	0	HIST1H2AH	27222887	1.000000	0.71417	0.958000	0.39756	0.066000	0.16364	6.495000	0.73665	1.740000	0.51718	0.533000	0.62120	ATG		PASS	0.542	HIST1H2AH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040136.1	NM_080596	Missense_Mutation	17	63	17	63	---	---	---	---
OR2J2	26707	broad.mit.edu	37	6	29141953	29141953	+	Nonsense_Mutation	SNP	G	G	T			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr6:29141953G>T	ENST00000377167.2	+	1	643	c.541G>T	c.(541-543)Gaa>Taa	p.E181*		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	181						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E181*(1)		endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						CTTCTTCTGTGAAGTTCCAGC	0.448																																						uc011dlm.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(541-543)GAA>TAA		olfactory receptor, family 2, subfamily J,							180.0	159.0	165.0					6																	29141953		1942	4154	6096	SO:0001587	stop_gained	26707				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29141953G>T		CCDS43434.1	6p22.2-p21.31	2012-08-09			ENSG00000204700	ENSG00000204700		"""GPCR / Class A : Olfactory receptors"""	8260	protein-coding gene	gene with protein product							Standard	NM_030905		Approved	OR6-8, hs6M1-6, dJ80I19.4	uc011dlm.2	O76002	OTTHUMG00000031091	ENST00000377167.2:c.541G>T	6.37:g.29141953G>T	ENSP00000366372:p.Glu181*						p.E181*	NM_030905	NP_112167	O76002	OR2J2_HUMAN			1	643	+			181			Extracellular (Potential).		A6NCU9|A6NLD0|B0UY53|Q32N09|Q5ST39|Q5SUJ6|Q6IF24|Q9GZK2|Q9GZL3	Nonsense_Mutation	SNP	ENST00000377167.2	37	c.541G>T	CCDS43434.1	.	.	.	.	.	.	.	.	.	.	G	18.43	3.622440	0.66787	.	.	ENSG00000204700	ENST00000377167	.	.	.	2.3	2.3	0.28687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	11.4287	0.50027	0.0:0.0:1.0:0.0	.	.	.	.	X	181	.	ENSP00000366372:E181X	E	+	1	0	OR2J2	29249932	1.000000	0.71417	1.000000	0.80357	0.636000	0.38137	6.491000	0.73649	1.265000	0.44215	0.205000	0.17691	GAA		PASS	0.448	OR2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076131.2			5	133	5	133	---	---	---	---
PKHD1	5314	broad.mit.edu	37	6	51752042	51752042	+	Splice_Site	SNP	C	C	A			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr6:51752042C>A	ENST00000371117.3	-	44	7273	c.6998G>T	c.(6997-6999)gGg>gTg	p.G2333V	PKHD1_ENST00000340994.4_Splice_Site_p.G2333V	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2333					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.G2333V(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CACTCTGTTCCCCTACAGAAA	0.393																																						uc003pah.1																			2	Substitution - Missense(2)		lung(2)	lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44						c.(6997-6999)GGG>GTG		fibrocystin isoform 1							86.0	80.0	82.0					6																	51752042		2203	4300	6503	SO:0001630	splice_region_variant	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51752042C>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.6997-1G>T	6.37:g.51752042C>A						PKHD1_uc010jzn.1_Missense_Mutation_p.G316V|PKHD1_uc003pai.2_Missense_Mutation_p.G2333V	p.G2333V	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			44	7274	-	Lung NSC(77;0.0605)		2333			PbH1 4.|Extracellular (Potential).		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.6998G>T	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	16.79	3.220971	0.58560	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	T;T	0.81415	-1.49;-1.49	5.8	5.8	0.92144	Pectin lyase fold/virulence factor (1);Pectin lyase fold (1);	0.068040	0.64402	D	0.000011	D	0.88897	0.6562	M	0.80982	2.52	0.80722	D	1	D;D;D	0.89917	1.0;0.997;1.0	D;D;D	0.85130	0.997;0.954;0.992	D	0.89190	0.3550	10	0.62326	D	0.03	.	17.2168	0.86946	0.0:1.0:0.0:0.0	.	2333;2333;2333	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	V	2333	ENSP00000360158:G2333V;ENSP00000341097:G2333V	ENSP00000341097:G2333V	G	-	2	0	PKHD1	51860001	0.904000	0.30761	0.990000	0.47175	0.403000	0.30841	1.553000	0.36255	2.755000	0.94549	0.655000	0.94253	GGG		PASS	0.393	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694	Missense_Mutation	8	47	8	47	---	---	---	---
CD109	135228	broad.mit.edu	37	6	74521937	74521937	+	Missense_Mutation	SNP	G	G	A			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr6:74521937G>A	ENST00000287097.5	+	29	3824	c.3712G>A	c.(3712-3714)Gta>Ata	p.V1238I	CD109_ENST00000422508.2_Missense_Mutation_p.V1161I|CD109_ENST00000437994.2_Missense_Mutation_p.V1221I			Q6YHK3	CD109_HUMAN	CD109 molecule	1238					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)	p.V1238I(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GCTTGCTGTGGTACAGCCAAC	0.353																																						uc003php.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(2)	4						c.(3712-3714)GTA>ATA		CD109 antigen isoform 1 precursor							156.0	147.0	150.0					6																	74521937		2203	4300	6503	SO:0001583	missense	135228					anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr6:74521937G>A	AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"""CD molecules"""	21685	protein-coding gene	gene with protein product		608859	"""CD109 antigen (Gov platelet alloantigens)"""			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.3712G>A	6.37:g.74521937G>A	ENSP00000287097:p.Val1238Ile					CD109_uc010kaz.2_Intron|CD109_uc003phq.2_Missense_Mutation_p.V1221I|CD109_uc010kba.2_Missense_Mutation_p.V1161I	p.V1238I	NM_133493	NP_598000	Q6YHK3	CD109_HUMAN			29	4137	+			1238					A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Missense_Mutation	SNP	ENST00000287097.5	37	c.3712G>A	CCDS4982.1	.	.	.	.	.	.	.	.	.	.	G	9.594	1.126992	0.20959	.	.	ENSG00000156535	ENST00000437994;ENST00000422508;ENST00000287097	T;T;T	0.24350	1.86;2.14;1.93	5.25	0.0176	0.14113	.	0.838313	0.09257	U	0.827133	T	0.03136	0.0092	N	0.13003	0.285	0.09310	N	1	B;B;B	0.25486	0.127;0.064;0.037	B;B;B	0.23419	0.046;0.029;0.008	T	0.44483	-0.9325	10	0.12766	T	0.61	.	2.9387	0.05823	0.1905:0.338:0.3556:0.1159	.	1161;1221;1238	Q6YHK3-2;Q6YHK3-4;Q6YHK3	.;.;CD109_HUMAN	I	1221;1161;1238	ENSP00000388062:V1221I;ENSP00000404475:V1161I;ENSP00000287097:V1238I	ENSP00000287097:V1238I	V	+	1	0	CD109	74578658	0.001000	0.12720	0.088000	0.20740	0.972000	0.66771	-0.238000	0.08977	0.319000	0.23209	0.563000	0.77884	GTA		PASS	0.353	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041230.3	NM_133493		12	74	12	74	---	---	---	---
COL12A1	1303	broad.mit.edu	37	6	75847265	75847265	+	Missense_Mutation	SNP	A	A	T			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr6:75847265A>T	ENST00000322507.8	-	31	5591	c.5282T>A	c.(5281-5283)gTg>gAg	p.V1761E	COL12A1_ENST00000416123.2_Missense_Mutation_p.V1761E|COL12A1_ENST00000345356.6_Missense_Mutation_p.V597E|COL12A1_ENST00000483888.2_Missense_Mutation_p.V1761E	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1761	Fibronectin type-III 13. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)	p.V1761E(1)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TGCATTGTACACTTGAAGGTT	0.453																																						uc003phs.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						c.(5281-5283)GTG>GAG		collagen, type XII, alpha 1 long isoform							94.0	88.0	90.0					6																	75847265		1894	4114	6008	SO:0001583	missense	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75847265A>T	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.5282T>A	6.37:g.75847265A>T	ENSP00000325146:p.Val1761Glu					COL12A1_uc003pht.2_Missense_Mutation_p.V597E	p.V1761E	NM_004370	NP_004361	Q99715	COCA1_HUMAN			31	5448	-			1761			Fibronectin type-III 13.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	c.5282T>A	CCDS43482.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	25.1|25.1	4.600120|4.600120	0.87055|0.87055	.|.	.|.	ENSG00000111799|ENSG00000111799	ENST00000419671|ENST00000322507;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888	.|T;T;T;T	.|0.61627	.|0.09;0.09;0.09;0.09	5.76|5.76	5.76|5.76	0.90799|0.90799	.|Fibronectin, type III (4);Immunoglobulin-like fold (1);	.|0.000000	.|0.64402	.|D	.|0.000007	T|T	0.78780|0.78780	0.4337|0.4337	M|M	0.93939|0.93939	3.475|3.475	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D	.|0.76494	.|0.999;0.996	.|D;D	.|0.71414	.|0.973;0.936	D|D	0.85073|0.85073	0.0941|0.0941	5|10	.|0.87932	.|D	.|0	.|.	16.0592|16.0592	0.80826|0.80826	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|597;1761	.|Q99715-2;Q99715	.|.;COCA1_HUMAN	R|E	495|1761;1761;597;1761;1761	.|ENSP00000325146:V1761E;ENSP00000305147:V597E;ENSP00000412864:V1761E;ENSP00000421216:V1761E	.|ENSP00000325146:V1761E	S|V	-|-	3|2	2|0	COL12A1|COL12A1	75903985|75903985	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.810000|0.810000	0.45777|0.45777	8.809000|8.809000	0.91944|0.91944	2.196000|2.196000	0.70406|0.70406	0.482000|0.482000	0.46254|0.46254	AGT|GTG		PASS	0.453	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		12	32	12	32	---	---	---	---
ROS1	6098	broad.mit.edu	37	6	117710738	117710738	+	Missense_Mutation	SNP	T	T	A			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr6:117710738T>A	ENST00000368508.3	-	12	1732	c.1534A>T	c.(1534-1536)Aca>Tca	p.T512S	ROS1_ENST00000368507.3_Missense_Mutation_p.T521S|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	512					cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.T512S(2)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TTGCCATCTGTGACAAGAAAG	0.418			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																	uc003pxp.1				Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"""O, E"""	GOPC|ROS1		glioblastoma|NSCLC		2	Substitution - Missense(2)		lung(2)	lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25						c.(1534-1536)ACA>TCA		proto-oncogene c-ros-1 protein precursor							95.0	96.0	96.0					6																	117710738		2203	4300	6503	SO:0001583	missense	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117710738T>A	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.1534A>T	6.37:g.117710738T>A	ENSP00000357494:p.Thr512Ser					ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron	p.T512S	NM_002944	NP_002935	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	12	1733	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	512			Extracellular (Potential).		Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	c.1534A>T	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.430614	0.83776	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	D;D	0.91237	-2.81;-2.81	5.92	5.92	0.95590	.	0.082507	0.52532	D	0.000075	D	0.90707	0.7084	L	0.32530	0.975	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.92429	0.5952	10	0.66056	D	0.02	.	14.095	0.65016	0.0:0.0:0.0:1.0	.	512	P08922	ROS1_HUMAN	S	512;521	ENSP00000357494:T512S;ENSP00000357493:T521S	ENSP00000357493:T521S	T	-	1	0	ROS1	117817431	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.984000	0.70548	2.268000	0.75426	0.459000	0.35465	ACA		PASS	0.418	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			5	41	5	41	---	---	---	---
LAMA2	3908	broad.mit.edu	37	6	129722441	129722441	+	Missense_Mutation	SNP	G	G	A			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr6:129722441G>A	ENST00000421865.2	+	38	5567	c.5518G>A	c.(5518-5520)Gat>Aat	p.D1840N		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1840	Domain II and I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)	p.D1840N(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TGACATACTCGATGAAGCCAA	0.398																																						uc003qbn.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(1)|skin(1)	10						c.(5518-5520)GAT>AAT		laminin alpha 2 subunit isoform a precursor							136.0	132.0	134.0					6																	129722441		2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129722441G>A	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.5518G>A	6.37:g.129722441G>A	ENSP00000400365:p.Asp1840Asn					LAMA2_uc003qbo.2_Missense_Mutation_p.D1840N	p.D1840N	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	38	5623	+			1840			Domain II and I.|Potential.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.5518G>A	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	G	11.95	1.791187	0.31685	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.21932	1.98	5.28	3.5	0.40072	Laminin I (1);	0.636031	0.16513	N	0.211177	T	0.03739	0.0106	N	0.19112	0.55	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.09377	0.004;0.004	T	0.42531	-0.9446	10	0.22109	T	0.4	.	7.0244	0.24932	0.3877:0.0:0.6123:0.0	.	1840;1840	A6NF00;P24043	.;LAMA2_HUMAN	N	1840	ENSP00000400365:D1840N	ENSP00000346769:D1840N	D	+	1	0	LAMA2	129764134	0.578000	0.26717	0.262000	0.24481	0.815000	0.46073	0.556000	0.23438	0.714000	0.32081	0.655000	0.94253	GAT		PASS	0.398	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			12	48	12	48	---	---	---	---
THSD7A	221981	broad.mit.edu	37	7	11464372	11464372	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr7:11464372C>A	ENST00000423059.4	-	16	3585	c.3334G>T	c.(3334-3336)Gtg>Ttg	p.V1112L	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1112	TSP type-1 11. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V1112L(1)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CGCATATTCACAAAGGTCACC	0.483										HNSCC(18;0.044)																												uc003ssf.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(3334-3336)GTG>TTG		thrombospondin, type I, domain containing 7A							210.0	197.0	201.0					7																	11464372		1987	4185	6172	SO:0001583	missense	221981					integral to membrane		g.chr7:11464372C>A		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.3334G>T	7.37:g.11464372C>A	ENSP00000406482:p.Val1112Leu	HNSCC(18;0.044)					p.V1112L	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	15	3586	-			1112			TSP type-1 11.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000423059.4	37	c.3334G>T	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.620214	0.87460	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.58797	0.31	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.60064	0.2240	M	0.63843	1.955	0.80722	D	1	B	0.34226	0.443	B	0.39590	0.304	T	0.54879	-0.8227	10	0.10111	T	0.7	.	20.1577	0.98120	0.0:1.0:0.0:0.0	.	1112	Q9UPZ6	THS7A_HUMAN	L	1112	ENSP00000406482:V1112L	ENSP00000262042:V1112L	V	-	1	0	THSD7A	11430897	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.247000	0.78257	2.767000	0.95098	0.655000	0.94253	GTG		PASS	0.483	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		25	143	25	143	---	---	---	---
DNAH11	8701	broad.mit.edu	37	7	21779282	21779282	+	Silent	SNP	C	C	T			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr7:21779282C>T	ENST00000409508.3	+	48	7936	c.7905C>T	c.(7903-7905)ccC>ccT	p.P2635P	DNAH11_ENST00000328843.6_Silent_p.P2642P	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2642	AAA 3. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.P2642P(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CCATCAATCCCAGGCTACAGG	0.433									Kartagener syndrome																													uc003svc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(7924-7926)CCC>CCT		dynein, axonemal, heavy chain 11							116.0	103.0	107.0					7																	21779282		1909	4122	6031	SO:0001819	synonymous_variant	8701	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21779282C>T	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.7905C>T	7.37:g.21779282C>T							p.P2642P	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			49	7957	+			2642			AAA 3 (By similarity).		Q9UJ82	Silent	SNP	ENST00000409508.3	37	c.7926C>T																																																																																					PASS	0.433	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		7	39	7	39	---	---	---	---
NPVF	64111	broad.mit.edu	37	7	25266386	25266386	+	Missense_Mutation	SNP	C	C	T			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr7:25266386C>T	ENST00000222674.2	-	2	444	c.398G>A	c.(397-399)aGa>aAa	p.R133K		NM_022150.3	NP_071433	Q9HCQ7	NPVF_HUMAN	neuropeptide VF precursor	133					negative regulation of gonadotropin secretion (GO:0032277)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)		p.R133K(1)		cervix(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						TGTTGTTGTTCTCCCAAACCT	0.488																																						uc003sxo.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(397-399)AGA>AAA		neuropeptide VF precursor							221.0	209.0	213.0					7																	25266386		2203	4300	6503	SO:0001583	missense	64111				neuropeptide signaling pathway	extracellular region|membrane	G-protein coupled receptor activity	g.chr7:25266386C>T	AB040290	CCDS5395.1	7p21-p15	2013-02-28	2006-10-06	2006-10-06	ENSG00000105954	ENSG00000105954		"""Endogenous ligands"""	13782	protein-coding gene	gene with protein product	"""RFamide-related peptide precursor"", ""FMRFamide-related peptide precursor"""		"""chromosome 7 open reading frame 9"""	C7orf9		11951088, 11173868	Standard	NM_022150		Approved	RFRP	uc003sxo.3	Q9HCQ7	OTTHUMG00000128509	ENST00000222674.2:c.398G>A	7.37:g.25266386C>T	ENSP00000222674:p.Arg133Lys						p.R133K	NM_022150	NP_071433	Q9HCQ7	RFRP_HUMAN			2	445	-			133					A4D164|Q7LE27|Q96PI9	Missense_Mutation	SNP	ENST00000222674.2	37	c.398G>A	CCDS5395.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.161033	0.78226	.	.	ENSG00000105954	ENST00000222674	T	0.59772	0.24	5.67	5.67	0.87782	.	0.000000	0.64402	D	0.000002	T	0.78470	0.4288	M	0.81942	2.565	0.43994	D	0.996697	D	0.89917	1.0	D	0.83275	0.996	T	0.80274	-0.1451	10	0.87932	D	0	-16.2033	18.3222	0.90242	0.0:1.0:0.0:0.0	.	133	Q9HCQ7	RFRP_HUMAN	K	133	ENSP00000222674:R133K	ENSP00000222674:R133K	R	-	2	0	NPVF	25232911	1.000000	0.71417	1.000000	0.80357	0.552000	0.35366	3.480000	0.53172	2.836000	0.97738	0.655000	0.94253	AGA		PASS	0.488	NPVF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250315.1	NM_022150		26	139	26	139	---	---	---	---
NPVF	64111	broad.mit.edu	37	7	25266428	25266428	+	Missense_Mutation	SNP	C	C	T			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr7:25266428C>T	ENST00000222674.2	-	2	402	c.356G>A	c.(355-357)aGc>aAc	p.S119N		NM_022150.3	NP_071433	Q9HCQ7	NPVF_HUMAN	neuropeptide VF precursor	119					negative regulation of gonadotropin secretion (GO:0032277)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)		p.S119N(1)		cervix(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						TCTCACGAGGCTCACCTCCAT	0.493																																						uc003sxo.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(355-357)AGC>AAC		neuropeptide VF precursor							204.0	194.0	198.0					7																	25266428		2203	4300	6503	SO:0001583	missense	64111				neuropeptide signaling pathway	extracellular region|membrane	G-protein coupled receptor activity	g.chr7:25266428C>T	AB040290	CCDS5395.1	7p21-p15	2013-02-28	2006-10-06	2006-10-06	ENSG00000105954	ENSG00000105954		"""Endogenous ligands"""	13782	protein-coding gene	gene with protein product	"""RFamide-related peptide precursor"", ""FMRFamide-related peptide precursor"""		"""chromosome 7 open reading frame 9"""	C7orf9		11951088, 11173868	Standard	NM_022150		Approved	RFRP	uc003sxo.3	Q9HCQ7	OTTHUMG00000128509	ENST00000222674.2:c.356G>A	7.37:g.25266428C>T	ENSP00000222674:p.Ser119Asn						p.S119N	NM_022150	NP_071433	Q9HCQ7	RFRP_HUMAN			2	403	-			119					A4D164|Q7LE27|Q96PI9	Missense_Mutation	SNP	ENST00000222674.2	37	c.356G>A	CCDS5395.1	.	.	.	.	.	.	.	.	.	.	C	6.324	0.427926	0.11987	.	.	ENSG00000105954	ENST00000222674	T	0.23552	1.9	5.67	5.67	0.87782	.	0.284754	0.31601	N	0.007362	T	0.19406	0.0466	L	0.43757	1.38	0.09310	N	1	B	0.32753	0.383	B	0.30495	0.116	T	0.21109	-1.0255	10	0.07813	T	0.8	-0.5616	12.6164	0.56580	0.0:0.9214:0.0:0.0786	.	119	Q9HCQ7	RFRP_HUMAN	N	119	ENSP00000222674:S119N	ENSP00000222674:S119N	S	-	2	0	NPVF	25232953	0.004000	0.15560	0.025000	0.17156	0.009000	0.06853	1.895000	0.39778	2.836000	0.97738	0.655000	0.94253	AGC		PASS	0.493	NPVF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250315.1	NM_022150		24	151	24	151	---	---	---	---
MRPS24	64951	broad.mit.edu	37	7	43906544	43906544	+	Silent	SNP	C	C	A	rs9154	byFrequency	TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr7:43906544C>A	ENST00000317534.5	-	4	319	c.258G>T	c.(256-258)acG>acT	p.T86T	MRPS24_ENST00000467084.1_5'UTR|URGCP-MRPS24_ENST00000603700.1_3'UTR	NM_032014.2	NP_114403.1	Q96EL2	RT24_HUMAN	mitochondrial ribosomal protein S24	86					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrial small ribosomal subunit (GO:0005763)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.T86T(1)		large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	5						CATCCTCCACCGTTCGCTCTG	0.557																																						uc003tit.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(256-258)ACG>ACT		mitochondrial ribosomal protein S24 precursor							68.0	64.0	65.0					7																	43906544		2203	4300	6503	SO:0001819	synonymous_variant	64951				translation	mitochondrial large ribosomal subunit|mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome	g.chr7:43906544C>A	AB061207	CCDS5473.1	7p14	2012-09-13			ENSG00000062582	ENSG00000062582		"""Mitochondrial ribosomal proteins / small subunits"""	14510	protein-coding gene	gene with protein product		611986				8127713, 11279123	Standard	NM_032014		Approved	MRP-S24, HSPC335	uc003tit.1	Q96EL2	OTTHUMG00000023175	ENST00000317534.5:c.258G>T	7.37:g.43906544C>A							p.T86T	NM_032014	NP_114403	Q96EL2	RT24_HUMAN			4	309	-			86					A4D1U9|P82668|Q96Q23|Q9P047	Silent	SNP	ENST00000317534.5	37	c.258G>T	CCDS5473.1																																																																																				PASS	0.557	MRPS24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250949.1	NM_032014		3	53	3	53	---	---	---	---
ZPBP	11055	broad.mit.edu	37	7	50097591	50097591	+	Missense_Mutation	SNP	T	T	A	rs374608453		TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr7:50097591T>A	ENST00000046087.2	-	4	550	c.481A>T	c.(481-483)Ata>Tta	p.I161L	ZPBP_ENST00000491129.1_5'Flank|ZPBP_ENST00000419417.1_Missense_Mutation_p.I160L	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	161					acrosome assembly (GO:0001675)|binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|extracellular region (GO:0005576)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)		p.I161L(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					TTACCATATATAGCATATTTT	0.284																																						uc003tou.2																			1	Substitution - Missense(1)		lung(1)		0						c.(481-483)ATA>TTA		zona pellucida binding protein isoform 1							61.0	62.0	62.0					7																	50097591		2202	4296	6498	SO:0001583	missense	11055				binding of sperm to zona pellucida	extracellular region		g.chr7:50097591T>A	D17570	CCDS5509.1, CCDS55110.1	7p14.3	2013-01-11			ENSG00000042813	ENSG00000042813		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15662	protein-coding gene	gene with protein product		608498				9378618	Standard	NM_007009		Approved	SP38, ZPBP1	uc003tou.3	Q9BS86	OTTHUMG00000023528	ENST00000046087.2:c.481A>T	7.37:g.50097591T>A	ENSP00000046087:p.Ile161Leu					ZPBP_uc011kci.1_Missense_Mutation_p.I87L|ZPBP_uc010kyw.2_Missense_Mutation_p.I160L	p.I161L	NM_007009	NP_008940	Q9BS86	ZPBP1_HUMAN			4	551	-	Glioma(55;0.08)|all_neural(89;0.245)		161					A4D253|C9JPU1|Q15941|Q75KX9|Q75MI3	Missense_Mutation	SNP	ENST00000046087.2	37	c.481A>T	CCDS5509.1	.	.	.	.	.	.	.	.	.	.	T	10.08	1.253013	0.22965	.	.	ENSG00000042813	ENST00000046087;ENST00000419417	T;T	0.55760	0.5;0.5	5.66	-1.93	0.07594	.	0.751883	0.12015	N	0.507503	T	0.42040	0.1185	L	0.47190	1.495	0.09310	N	1	B;B	0.25312	0.123;0.123	B;B	0.26202	0.067;0.067	T	0.34800	-0.9814	9	.	.	.	-2.3088	11.1644	0.48535	0.0:0.2848:0.0:0.7152	.	160;161	C9JPU1;Q9BS86	.;ZPBP1_HUMAN	L	161;160	ENSP00000046087:I161L;ENSP00000402071:I160L	.	I	-	1	0	ZPBP	50068137	0.000000	0.05858	0.007000	0.13788	0.567000	0.35839	-0.973000	0.03798	-0.164000	0.10927	0.482000	0.46254	ATA		PASS	0.284	ZPBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251374.1	NM_007009		3	35	3	35	---	---	---	---
CACNA2D1	781	broad.mit.edu	37	7	81588591	81588591	+	Splice_Site	SNP	C	C	A			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr7:81588591C>A	ENST00000356253.5	-	38	3450	c.3195G>T	c.(3193-3195)ttG>ttT	p.L1065F	CACNA2D1_ENST00000356860.3_Splice_Site_p.L1053F|CACNA2D1_ENST00000535308.1_Splice_Site_p.L265F			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	1065					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.L1053F(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	GTGATCTTACCAAGACATTGT	0.368																																						uc003uhr.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(1)	6						c.(3157-3159)TTG>TTT		calcium channel, voltage-dependent, alpha	Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)						101.0	90.0	93.0					7																	81588591		2203	4300	6503	SO:0001630	splice_region_variant	781					voltage-gated calcium channel complex	metal ion binding	g.chr7:81588591C>A	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	1399	protein-coding gene	gene with protein product		114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.3195+1G>T	7.37:g.81588591C>A						CACNA2D1_uc011kgy.1_Missense_Mutation_p.L265F	p.L1053F	NM_000722	NP_000713	P54289	CA2D1_HUMAN			38	3415	-			1065			Extracellular (Potential).		Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	ENST00000356253.5	37	c.3159G>T		.	.	.	.	.	.	.	.	.	.	C	15.07	2.723070	0.48728	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253;ENST00000535308	T;T;T	0.54479	0.57;0.57;0.57	5.84	4.96	0.65561	.	0.781386	0.11882	N	0.520453	T	0.51736	0.1692	M	0.62723	1.935	0.36211	D	0.851366	B;B	0.32160	0.135;0.358	B;B	0.34722	0.096;0.188	T	0.54715	-0.8252	9	.	.	.	-0.8408	10.6554	0.45671	0.132:0.7996:0.0:0.0684	.	265;1053	B7Z658;P54289-2	.;.	F	1053;1072;1065;265	ENSP00000349320:L1053F;ENSP00000348589:L1065F;ENSP00000443124:L265F	.	L	-	3	2	CACNA2D1	81426527	1.000000	0.71417	0.976000	0.42696	0.980000	0.70556	3.399000	0.52586	1.474000	0.48178	0.563000	0.77884	TTG		PASS	0.368	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding			Missense_Mutation	11	50	11	50	---	---	---	---
ZNF804B	219578	broad.mit.edu	37	7	88956788	88956788	+	Splice_Site	SNP	G	G	C			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr7:88956788G>C	ENST00000333190.4	+	3	989	c.380G>C	c.(379-381)tGt>tCt	p.C127S		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	127							metal ion binding (GO:0046872)	p.C127S(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CAATCTGAATGGTAAGAATTA	0.363										HNSCC(36;0.09)																												uc011khi.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11						c.(379-381)TGT>TCT		zinc finger protein 804B							88.0	88.0	88.0					7																	88956788		2203	4300	6503	SO:0001630	splice_region_variant	219578					intracellular	zinc ion binding	g.chr7:88956788G>C	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.380+1G>C	7.37:g.88956788G>C		HNSCC(36;0.09)					p.C127S	NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		3	918	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		127					B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	c.380G>C	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.318261	0.81469	.	.	ENSG00000182348	ENST00000333190	T	0.20881	2.04	4.94	4.06	0.47325	.	0.418321	0.23989	N	0.042600	T	0.23846	0.0577	L	0.56124	1.755	0.48288	D	0.999622	P	0.49253	0.921	B	0.42882	0.401	T	0.04216	-1.0968	10	0.52906	T	0.07	-3.4114	13.5726	0.61856	0.0755:0.0:0.9245:0.0	.	127	A4D1E1	Z804B_HUMAN	S	127	ENSP00000329638:C127S	ENSP00000329638:C127S	C	+	2	0	ZNF804B	88794724	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	5.148000	0.64857	1.433000	0.47394	0.650000	0.86243	TGT		PASS	0.363	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646	Missense_Mutation	7	36	7	36	---	---	---	---
DYNC1I1	1780	broad.mit.edu	37	7	95499246	95499246	+	Silent	SNP	G	G	T			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr7:95499246G>T	ENST00000324972.6	+	6	670	c.477G>T	c.(475-477)ctG>ctT	p.L159L	DYNC1I1_ENST00000537881.1_Silent_p.L122L|DYNC1I1_ENST00000437599.1_Silent_p.L139L|DYNC1I1_ENST00000447467.2_Silent_p.L142L|DYNC1I1_ENST00000457059.1_Silent_p.L142L|DYNC1I1_ENST00000359388.4_Silent_p.L122L	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	159					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|metabolic process (GO:0008152)|vesicle transport along microtubule (GO:0047496)	cytoplasmic dynein complex (GO:0005868)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)|spectrin binding (GO:0030507)	p.L159L(1)		NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			TGGATTTCCTGCCAAGGGAAG	0.448																																						uc003uoc.3																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|kidney(1)	4						c.(475-477)CTG>CTT		dynein, cytoplasmic 1, intermediate chain 1							132.0	118.0	123.0					7																	95499246		2203	4300	6503	SO:0001819	synonymous_variant	1780				vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity	g.chr7:95499246G>T	AF063228	CCDS5644.1, CCDS47645.1, CCDS47646.1, CCDS64718.1	7q21.3-q22.1	2013-01-18	2005-11-24	2005-11-24	ENSG00000158560	ENSG00000158560		"""Cytoplasmic dyneins"", ""WD repeat domain containing"""	2963	protein-coding gene	gene with protein product		603772	"""dynein, cytoplasmic, intermediate polypeptide 1"""	DNCI1		10049579, 16260502	Standard	NM_004411		Approved	DNCIC1	uc003uoc.4	O14576	OTTHUMG00000153983	ENST00000324972.6:c.477G>T	7.37:g.95499246G>T						DYNC1I1_uc003uod.3_Silent_p.L142L|DYNC1I1_uc003uob.2_Silent_p.L122L|DYNC1I1_uc003uoe.3_Silent_p.L139L|DYNC1I1_uc010lfl.2_Silent_p.L148L	p.L159L	NM_004411	NP_004402	O14576	DC1I1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0957)		6	754	+	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		159					B4DME3|F5H050|G5E9K1|Q8TBF7|Q9Y2X1	Silent	SNP	ENST00000324972.6	37	c.477G>T	CCDS5644.1																																																																																				PASS	0.448	DYNC1I1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333432.1	NM_004411		13	61	13	61	---	---	---	---
PLOD3	8985	broad.mit.edu	37	7	100855937	100855937	+	Splice_Site	SNP	C	C	G			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr7:100855937C>G	ENST00000223127.3	-	9	1278		c.e9-1			NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3						basement membrane assembly (GO:0070831)|cellular protein modification process (GO:0006464)|cellular response to hormone stimulus (GO:0032870)|collagen fibril organization (GO:0030199)|endothelial cell morphogenesis (GO:0001886)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|lung morphogenesis (GO:0060425)|neural tube development (GO:0021915)|protein localization (GO:0008104)|vasodilation (GO:0042311)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen galactosyltransferase activity (GO:0050211)|procollagen glucosyltransferase activity (GO:0033823)|procollagen-lysine 5-dioxygenase activity (GO:0008475)	p.?(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	GGGGGGGAGGCTGGAAGATGC	0.642																																						uc003uyd.2																			1	Unknown(1)		lung(1)	ovary(1)|skin(1)	2						c.e9-1		procollagen-lysine, 2-oxoglutarate 5-dioxygenase	Succinic acid(DB00139)|Vitamin C(DB00126)						25.0	33.0	30.0					7																	100855937		2200	4296	6496	SO:0001630	splice_region_variant	8985				protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding	g.chr7:100855937C>G	AF046889	CCDS5715.1	7q22.1	2011-08-24			ENSG00000106397	ENSG00000106397	1.14.11.4		9083	protein-coding gene	gene with protein product	"""lysyl hydroxlase 3"""	603066				9724729, 9582318	Standard	NM_001084		Approved	LH3	uc003uyd.3	O60568	OTTHUMG00000157111	ENST00000223127.3:c.880-1G>C	7.37:g.100855937C>G						PLOD3_uc010lhs.2_Splice_Site	p.P294_splice	NM_001084	NP_001075	O60568	PLOD3_HUMAN			9	1336	-	Lung NSC(181;0.168)|all_lung(186;0.215)							B2R6W6|Q540C3	Splice_Site	SNP	ENST00000223127.3	37	c.880_splice	CCDS5715.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.82|16.82	3.227968|3.227968	0.58777|0.58777	.|.	.|.	ENSG00000106397|ENSG00000106397	ENST00000223127|ENST00000541462	.|.	.|.	.|.	4.24|4.24	4.24|4.24	0.50183|0.50183	.|.	.|.	.|.	.|.	.|.	.|T	.|0.63295	.|0.2499	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.61855	.|-0.6977	.|4	.|.	.|.	.|.	.|.	11.9984|11.9984	0.53216|0.53216	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	.|P	-1|198	.|.	.|.	.|A	-|-	.|1	.|0	PLOD3|PLOD3	100642657|100642657	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.940000|0.940000	0.58332|0.58332	5.682000|5.682000	0.68182|0.68182	2.180000|2.180000	0.69256|0.69256	0.462000|0.462000	0.41574|0.41574	.|GCC		PASS	0.642	PLOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347470.1		Intron	4	23	4	23	---	---	---	---
FLNC	2318	broad.mit.edu	37	7	128486411	128486411	+	Nonsense_Mutation	SNP	C	C	T			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr7:128486411C>T	ENST00000325888.8	+	23	4282	c.4021C>T	c.(4021-4023)Cga>Tga	p.R1341*	FLNC_ENST00000346177.6_Nonsense_Mutation_p.R1341*	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1341					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)	p.R1341*(1)		biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GAGCCCCTTCCGAGTGGGCGT	0.647																																						uc003vnz.3																			1	Substitution - Nonsense(1)		lung(1)	breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						c.(4021-4023)CGA>TGA		gamma filamin isoform a							51.0	62.0	58.0					7																	128486411		2127	4223	6350	SO:0001587	stop_gained	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128486411C>T	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.4021C>T	7.37:g.128486411C>T	ENSP00000327145:p.Arg1341*					FLNC_uc003voa.3_Nonsense_Mutation_p.R1341*	p.R1341*	NM_001458	NP_001449	Q14315	FLNC_HUMAN			23	4230	+			1341			Filamin 11.		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Nonsense_Mutation	SNP	ENST00000325888.8	37	c.4021C>T	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	C	45	11.944205	0.99620	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	.	.	.	5.07	4.18	0.49190	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	.	13.6136	0.62094	0.2965:0.7035:0.0:0.0	.	.	.	.	X	1341	.	ENSP00000327145:R1341X	R	+	1	2	FLNC	128273647	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	1.232000	0.32636	1.117000	0.41842	0.555000	0.69702	CGA		PASS	0.647	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			5	28	5	28	---	---	---	---
KIAA1549	57670	broad.mit.edu	37	7	138545946	138545946	+	Missense_Mutation	SNP	C	C	A	rs60797311	byFrequency	TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr7:138545946C>A	ENST00000422774.1	-	16	5234	c.5186G>T	c.(5185-5187)aGg>aTg	p.R1729M	KIAA1549_ENST00000242365.4_Missense_Mutation_p.R1679M|KIAA1549_ENST00000440172.1_Missense_Mutation_p.R1729M			Q9HCM3	K1549_HUMAN	KIAA1549	1729						integral component of membrane (GO:0016021)		p.R1729M(1)|p.R1679M(1)	KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GGTGGCTCGCCTCTCTTCCTG	0.647			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)	uc011kql.1				Dom	yes		7	7q34	57670	O	KIAA1549			O	BRAF		pilocytic astrocytoma	KIAA1549/BRAF(229)	2	Substitution - Missense(2)		lung(2)	central_nervous_system(229)|pancreas(1)	230						c.(5185-5187)AGG>ATG		hypothetical protein LOC57670 isoform 1							39.0	46.0	44.0					7																	138545946		1967	4138	6105	SO:0001583	missense	57670					integral to membrane		g.chr7:138545946C>A		CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.5186G>T	7.37:g.138545946C>A	ENSP00000416040:p.Arg1729Met					KIAA1549_uc011kqi.1_Missense_Mutation_p.R513M|KIAA1549_uc003vuk.3_Missense_Mutation_p.R1679M|KIAA1549_uc011kqj.1_Missense_Mutation_p.R1729M|KIAA1549_uc011kqk.1_Missense_Mutation_p.R513M	p.R1729M	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN			16	5235	-			1729					B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	ENST00000422774.1	37	c.5186G>T	CCDS56513.1	.	.	.	.	.	.	.	.	.	.	C	16.66	3.185619	0.57909	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.32988	1.43;1.44;1.54	4.6	3.72	0.42706	.	0.000000	0.85682	D	0.000000	T	0.48607	0.1509	M	0.61703	1.905	0.30605	N	0.760134	D;D;D;D	0.89917	1.0;0.999;1.0;0.999	D;D;D;D	0.91635	0.997;0.995;0.999;0.995	T	0.52208	-0.8606	10	0.87932	D	0	.	8.895	0.35458	0.1477:0.7715:0.0:0.0808	.	1729;513;1729;513	Q9HCM3;Q9HCM3-4;Q9HCM3-2;Q9HCM3-3	K1549_HUMAN;.;.;.	M	1729;1679;1729	ENSP00000406661:R1729M;ENSP00000242365:R1679M;ENSP00000416040:R1729M	ENSP00000242365:R1679M	R	-	2	0	KIAA1549	138196486	0.005000	0.15991	0.828000	0.32881	0.877000	0.50540	0.958000	0.29227	1.285000	0.44548	0.563000	0.77884	AGG		PASS	0.647	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1			7	36	7	36	---	---	---	---
SGCZ	137868	broad.mit.edu	37	8	13959919	13959919	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr8:13959919C>A	ENST00000382080.1	-	7	1425	c.710G>T	c.(709-711)aGg>aTg	p.R237M	SGCZ_ENST00000421524.2_Missense_Mutation_p.R190M	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	224					membrane organization (GO:0061024)|muscle cell cellular homeostasis (GO:0046716)|muscle cell development (GO:0055001)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|sarcoglycan complex (GO:0016012)		p.R237M(1)		NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		GAGCTCCTTCCTGCAGGTGGC	0.522																																						uc003wwq.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(709-711)AGG>ATG		sarcoglycan zeta							73.0	71.0	72.0					8																	13959919		2203	4300	6503	SO:0001583	missense	137868				cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma		g.chr8:13959919C>A	AY028700	CCDS5992.2	8p22	2014-09-17	2010-04-21		ENSG00000185053	ENSG00000185053			14075	protein-coding gene	gene with protein product		608113				12189167	Standard	XM_006716287		Approved	ZSG1	uc003wwq.3	Q96LD1	OTTHUMG00000090827	ENST00000382080.1:c.710G>T	8.37:g.13959919C>A	ENSP00000371512:p.Arg237Met					SGCZ_uc010lss.2_Missense_Mutation_p.R190M	p.R237M	NM_139167	NP_631906	Q96LD1	SGCZ_HUMAN		all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)	7	1370	-			224			Extracellular (Potential).		Q6REU0	Missense_Mutation	SNP	ENST00000382080.1	37	c.710G>T	CCDS5992.2	.	.	.	.	.	.	.	.	.	.	C	29.7	5.027974	0.93518	.	.	ENSG00000185053	ENST00000382080;ENST00000421524	T;T	0.11821	2.74;2.74	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.38295	0.1035	M	0.71581	2.175	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.01242	-1.1408	10	0.34782	T	0.22	.	18.5461	0.91047	0.0:1.0:0.0:0.0	.	190;237	Q08AT0;Q96LD1-2	.;.	M	237;190	ENSP00000371512:R237M;ENSP00000405224:R190M	ENSP00000371512:R237M	R	-	2	0	SGCZ	14004290	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.216000	0.77974	2.804000	0.96469	0.650000	0.86243	AGG		PASS	0.522	SGCZ-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207636.2	NM_139167		15	55	15	55	---	---	---	---
TEX15	56154	broad.mit.edu	37	8	30702473	30702473	+	Nonsense_Mutation	SNP	A	A	T			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr8:30702473A>T	ENST00000256246.2	-	1	4135	c.4061T>A	c.(4060-4062)tTg>tAg	p.L1354*		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1354					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)			p.L1354*(1)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CTGCTTATCCAAGTAAGATTT	0.393																																						uc003xil.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7						c.(4060-4062)TTG>TAG		testis expressed 15							94.0	100.0	98.0					8																	30702473		2203	4300	6503	SO:0001587	stop_gained	56154							g.chr8:30702473A>T	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.4061T>A	8.37:g.30702473A>T	ENSP00000256246:p.Leu1354*						p.L1354*	NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	1	4061	-			1354						Nonsense_Mutation	SNP	ENST00000256246.2	37	c.4061T>A	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	A	42	9.194820	0.99096	.	.	ENSG00000133863	ENST00000256246	.	.	.	5.5	2.71	0.32032	.	0.582363	0.14817	N	0.296734	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	5.4119	0.16352	0.7181:0.1798:0.1022:0.0	.	.	.	.	X	1354	.	ENSP00000256246:L1354X	L	-	2	0	TEX15	30822015	0.002000	0.14202	0.011000	0.14972	0.308000	0.27856	1.306000	0.33505	0.885000	0.36088	0.533000	0.62120	TTG		PASS	0.393	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			23	86	23	86	---	---	---	---
WHSC1L1	54904	broad.mit.edu	37	8	38187351	38187351	+	Missense_Mutation	SNP	C	C	T			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr8:38187351C>T	ENST00000317025.8	-	6	1643	c.1126G>A	c.(1126-1128)Gag>Aag	p.E376K	WHSC1L1_ENST00000527502.1_Missense_Mutation_p.E376K|WHSC1L1_ENST00000433384.2_Missense_Mutation_p.E376K|WHSC1L1_ENST00000316985.3_Missense_Mutation_p.E376K	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	376					histone lysine methylation (GO:0034968)|histone methylation (GO:0016571)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.E376K(2)		NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			AATGCTTTCTCTGCATGGGCA	0.383			T	NUP98	AML																																	uc003xli.2				Dom	yes		8	8p12	54904	T	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)			L	NUP98		AML		2	Substitution - Missense(2)		lung(2)	breast(1)	1						c.(1126-1128)GAG>AAG		WHSC1L1 protein isoform long							75.0	75.0	75.0					8																	38187351		2203	4300	6503	SO:0001583	missense	54904				cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding	g.chr8:38187351C>T	AF332469	CCDS6105.1, CCDS43729.1	8p11.2	2013-05-20			ENSG00000147548	ENSG00000147548			12767	protein-coding gene	gene with protein product		607083				10802047, 23269674	Standard	NM_023034		Approved	FLJ20353, NSD3	uc003xli.3	Q9BZ95		ENST00000317025.8:c.1126G>A	8.37:g.38187351C>T	ENSP00000313983:p.Glu376Lys					WHSC1L1_uc011lbm.1_Missense_Mutation_p.E376K|WHSC1L1_uc010lwe.2_Missense_Mutation_p.E376K|WHSC1L1_uc003xlj.2_Missense_Mutation_p.E376K	p.E376K	NM_023034	NP_075447	Q9BZ95	NSD3_HUMAN	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)		6	1644	-	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	376					B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	Missense_Mutation	SNP	ENST00000317025.8	37	c.1126G>A	CCDS43729.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.917234	0.92249	.	.	ENSG00000147548	ENST00000433384;ENST00000317025;ENST00000446459;ENST00000527502;ENST00000316985	T;T;T;T	0.71461	-0.57;-0.57;-0.57;-0.57	5.6	5.6	0.85130	.	0.000000	0.48767	U	0.000177	T	0.79240	0.4412	L	0.39020	1.185	0.80722	D	1	D;D;D;D	0.89917	0.998;0.975;1.0;0.958	D;D;D;P	0.91635	0.989;0.928;0.999;0.849	T	0.77335	-0.2626	10	0.39692	T	0.17	.	19.6104	0.95604	0.0:1.0:0.0:0.0	.	376;376;376;376	B7ZL11;Q9BZ95-2;Q9BZ95-3;Q9BZ95	.;.;.;NSD3_HUMAN	K	376;376;313;376;376	ENSP00000393284:E376K;ENSP00000313983:E376K;ENSP00000434730:E376K;ENSP00000313410:E376K	ENSP00000313410:E376K	E	-	1	0	WHSC1L1	38306508	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	7.270000	0.78493	2.634000	0.89283	0.650000	0.86243	GAG		PASS	0.383	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381924.3	NM_023034		7	295	7	295	---	---	---	---
GINS4	84296	broad.mit.edu	37	8	41397202	41397202	+	Silent	SNP	G	G	A	rs141057295		TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr8:41397202G>A	ENST00000276533.3	+	5	513	c.303G>A	c.(301-303)gaG>gaA	p.E101E	GINS4_ENST00000523277.2_Silent_p.E101E|GINS4_ENST00000518671.1_Silent_p.E101E|RP11-360L9.7_ENST00000524133.1_RNA|RP11-360L9.4_ENST00000523081.1_RNA|RP11-360L9.7_ENST00000578500.1_RNA	NM_032336.2	NP_115712.1	Q9BRT9	SLD5_HUMAN	GINS complex subunit 4 (Sld5 homolog)	101					DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)		p.E101E(2)		breast(1)|lung(2)|skin(1)	4	Ovarian(28;0.014)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.00732)|Lung NSC(58;0.0207)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	Colorectal(10;0.0014)|OV - Ovarian serous cystadenocarcinoma(14;0.00329)|LUSC - Lung squamous cell carcinoma(45;0.0137)|COAD - Colon adenocarcinoma(11;0.0147)			CACAGATAGAGAAGTTTTTCC	0.463																																						uc003xnx.2																			2	Substitution - coding silent(2)	p.E101E(1)	lung(1)|skin(1)	skin(1)	1						c.(301-303)GAG>GAA		GINS complex subunit 4							92.0	96.0	95.0					8																	41397202		2203	4300	6503	SO:0001819	synonymous_variant	84296				DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	cytoplasm|nucleoplasm		g.chr8:41397202G>A	BC005995	CCDS6116.1	8p11.21	2006-05-04			ENSG00000147536	ENSG00000147536			28226	protein-coding gene	gene with protein product		610611				12477932	Standard	NM_032336		Approved	MGC14799, SLD5	uc003xnx.3	Q9BRT9	OTTHUMG00000164079	ENST00000276533.3:c.303G>A	8.37:g.41397202G>A						GINS4_uc003xny.2_Silent_p.E101E	p.E101E	NM_032336	NP_115712	Q9BRT9	SLD5_HUMAN	Colorectal(10;0.0014)|OV - Ovarian serous cystadenocarcinoma(14;0.00329)|LUSC - Lung squamous cell carcinoma(45;0.0137)|COAD - Colon adenocarcinoma(11;0.0147)		5	513	+	Ovarian(28;0.014)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.00732)|Lung NSC(58;0.0207)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	101					B2R8H5|D3DSY0|Q8N648	Silent	SNP	ENST00000276533.3	37	c.303G>A	CCDS6116.1																																																																																				PASS	0.463	GINS4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377150.1	NM_032336		9	99	9	99	---	---	---	---
AP3M2	10947	broad.mit.edu	37	8	42015516	42015516	+	Missense_Mutation	SNP	G	G	C			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr8:42015516G>C	ENST00000518421.1	+	4	622	c.331G>C	c.(331-333)Gag>Cag	p.E111Q	AP3M2_ENST00000396926.3_Missense_Mutation_p.E111Q|AP3M2_ENST00000517922.1_Missense_Mutation_p.E111Q|AP3M2_ENST00000174653.3_Missense_Mutation_p.E111Q|AP3M2_ENST00000520685.1_Intron	NM_001134296.1	NP_001127768.1	P53677	AP3M2_HUMAN	adaptor-related protein complex 3, mu 2 subunit	111					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)		p.E111Q(1)		endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|stomach(1)	17	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)			TGTGGTTTATGAGGTATTGGA	0.403																																						uc003xop.2																			1	Substitution - Missense(1)		lung(1)		0						c.(331-333)GAG>CAG		adaptor-related protein complex 3, mu 2 subunit							239.0	217.0	224.0					8																	42015516		2203	4300	6503	SO:0001583	missense	10947				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus		g.chr8:42015516G>C	D38293	CCDS6125.1	8p11.2	2008-07-07			ENSG00000070718	ENSG00000070718			570	protein-coding gene	gene with protein product		610469				7601449	Standard	NM_006803		Approved	CLA20, AP47B	uc003xoo.3	P53677	OTTHUMG00000164060	ENST00000518421.1:c.331G>C	8.37:g.42015516G>C	ENSP00000428787:p.Glu111Gln					AP3M2_uc003xoo.2_Missense_Mutation_p.E111Q|AP3M2_uc010lxe.2_RNA|AP3M2_uc003xoq.1_5'UTR|AP3M2_uc003xor.1_Missense_Mutation_p.E111Q	p.E111Q	NM_001134296	NP_001127768	P53677	AP3M2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		4	622	+	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	111					B2RCR0|D3DSY2|Q7Z472	Missense_Mutation	SNP	ENST00000518421.1	37	c.331G>C	CCDS6125.1	.	.	.	.	.	.	.	.	.	.	G	19.90	3.913087	0.72983	.	.	ENSG00000070718	ENST00000518421;ENST00000174653;ENST00000396926;ENST00000522288;ENST00000517922;ENST00000517499	T;T;T;T	0.80033	-1.31;-1.31;-1.31;-1.33	4.79	4.79	0.61399	Longin-like (1);AP complex, mu/sigma subunit (1);	0.000000	0.85682	D	0.000000	D	0.87176	0.6112	L	0.55017	1.72	0.80722	D	1	P;D	0.60575	0.699;0.988	P;D	0.67382	0.557;0.951	D	0.87972	0.2737	10	0.56958	D	0.05	-28.1626	18.2325	0.89938	0.0:0.0:1.0:0.0	.	111;111	E7ER80;P53677	.;AP3M2_HUMAN	Q	111;111;111;111;111;20	ENSP00000428787:E111Q;ENSP00000174653:E111Q;ENSP00000380132:E111Q;ENSP00000429435:E111Q	ENSP00000174653:E111Q	E	+	1	0	AP3M2	42134673	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.330000	0.96422	2.363000	0.80096	0.650000	0.86243	GAG		PASS	0.403	AP3M2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376996.1			9	102	9	102	---	---	---	---
VCPIP1	80124	broad.mit.edu	37	8	67577946	67577946	+	Silent	SNP	A	A	G			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr8:67577946A>G	ENST00000310421.4	-	1	1506	c.1248T>C	c.(1246-1248)gcT>gcC	p.A416A	C8orf44_ENST00000521889.1_5'Flank|C8orf44-SGK3_ENST00000519289.1_5'Flank|C8orf44_ENST00000519561.1_5'Flank	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	416					endoplasmic reticulum membrane fusion (GO:0016320)|Golgi reassembly (GO:0090168)|mitotic nuclear division (GO:0007067)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	ubiquitin-specific protease activity (GO:0004843)	p.A416A(1)		breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			CTTCTTCCATAGCAGCAACAA	0.388																																					NSCLC(179;265 2915 6144 43644)	uc003xwn.2																			1	Substitution - coding silent(1)		lung(1)	lung(2)|ovary(2)|central_nervous_system(1)|breast(1)|skin(1)|kidney(1)	8						c.(1246-1248)GCT>GCC		valosin containing protein (p97)/p47 complex							132.0	132.0	132.0					8																	67577946		2203	4300	6503	SO:0001819	synonymous_variant	80124				protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity	g.chr8:67577946A>G	AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073		"""OTU domain containing"""	30897	protein-coding gene	gene with protein product		611745				11347906, 12509440	Standard	NM_025054		Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.1248T>C	8.37:g.67577946A>G						SGK3_uc003xwp.2_5'Flank|C8orf44_uc003xwo.1_5'Flank	p.A416A	NM_025054	NP_079330	Q96JH7	VCIP1_HUMAN	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)		1	1507	-		Lung NSC(129;0.142)|all_lung(136;0.227)	416					Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Silent	SNP	ENST00000310421.4	37	c.1248T>C	CCDS6192.1																																																																																				PASS	0.388	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379227.1			20	127	20	127	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77620155	77620155	+	Missense_Mutation	SNP	A	A	G			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr8:77620155A>G	ENST00000521891.2	+	3	3413	c.2965A>G	c.(2965-2967)Aag>Gag	p.K989E	ZFHX4_ENST00000455469.2_Missense_Mutation_p.K963E|ZFHX4_ENST00000518282.1_Missense_Mutation_p.K963E|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Missense_Mutation_p.K963E	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	963					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.K989E(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GTGGAGGTTGAAGTGTATTGC	0.433										HNSCC(33;0.089)																												uc003yav.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(2887-2889)AAG>GAG		zinc finger homeodomain 4							107.0	108.0	108.0					8																	77620155		2148	4260	6408	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77620155A>G		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.2965A>G	8.37:g.77620155A>G	ENSP00000430497:p.Lys989Glu	HNSCC(33;0.089)				ZFHX4_uc003yat.1_Missense_Mutation_p.K963E|ZFHX4_uc003yau.1_Missense_Mutation_p.K989E|ZFHX4_uc003yaw.1_Missense_Mutation_p.K963E	p.K963E	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		3	3274	+			963					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.2887A>G	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	A	12.60	1.986738	0.35036	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.53640	0.61;0.61;0.61;0.61	5.28	5.28	0.74379	.	0.000000	0.46442	U	0.000283	T	0.70141	0.3190	M	0.82056	2.57	0.80722	D	1	D;D;D;D	0.71674	0.997;0.998;0.998;0.995	D;D;D;D	0.80764	0.985;0.994;0.994;0.92	T	0.74919	-0.3500	10	0.72032	D	0.01	.	15.3829	0.74673	1.0:0.0:0.0:0.0	.	963;963;989;963	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	E	989;989;963;963;963	ENSP00000430497:K989E;ENSP00000399605:K963E;ENSP00000050961:K963E;ENSP00000430848:K963E	ENSP00000050961:K963E	K	+	1	0	ZFHX4	77782710	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.761000	0.91691	2.230000	0.72887	0.528000	0.53228	AAG		PASS	0.433	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		8	55	8	55	---	---	---	---
ZBTB10	65986	broad.mit.edu	37	8	81412556	81412556	+	Silent	SNP	A	A	G			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr8:81412556A>G	ENST00000430430.1	+	3	2579	c.1800A>G	c.(1798-1800)tcA>tcG	p.S600S	ZBTB10_ENST00000426744.2_Silent_p.S600S|ZBTB10_ENST00000379091.4_Silent_p.S308S|ZBTB10_ENST00000455036.3_Silent_p.S600S	NM_001277145.1	NP_001264074.1	Q96DT7	ZBT10_HUMAN	zinc finger and BTB domain containing 10	600					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.S600S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(4)	20	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)			AAGATTGCTCAGTAATGCAGC	0.343																																						uc003ybx.3																			1	Substitution - coding silent(1)		lung(1)	lung(1)	1						c.(1798-1800)TCA>TCG		zinc finger and BTB domain containing 10 isoform							9.0	9.0	9.0					8																	81412556		1819	4001	5820	SO:0001819	synonymous_variant	65986				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:81412556A>G	AK022814	CCDS47880.1, CCDS64920.1	8q13-q21.1	2013-01-09			ENSG00000205189	ENSG00000205189		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	30953	protein-coding gene	gene with protein product						12477932	Standard	NM_001105539		Approved	RINZF, FLJ12752	uc003ybx.5	Q96DT7	OTTHUMG00000155016	ENST00000430430.1:c.1800A>G	8.37:g.81412556A>G						ZBTB10_uc003ybv.3_Silent_p.S308S|ZBTB10_uc003ybw.3_Silent_p.S600S|ZBTB10_uc010lzt.2_Silent_p.S600S	p.S600S	NM_001105539	NP_001099009	Q96DT7	ZBT10_HUMAN	BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)		2	2398	+	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		600					A4FVD0|Q86W96|Q8IXI9|Q96MH9	Silent	SNP	ENST00000430430.1	37	c.1800A>G	CCDS47880.1																																																																																				PASS	0.343	ZBTB10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338055.2	NM_023929		3	6	3	6	---	---	---	---
CNGB3	54714	broad.mit.edu	37	8	87680270	87680270	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr8:87680270G>T	ENST00000320005.5	-	5	667	c.620C>A	c.(619-621)cCa>cAa	p.P207Q		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	207					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.P207Q(1)		NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						TATGCTGTTTGGAAGTTTAAT	0.388																																						uc003ydx.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(619-621)CCA>CAA		cyclic nucleotide gated channel beta 3							245.0	234.0	238.0					8																	87680270		2203	4300	6503	SO:0001583	missense	54714				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr8:87680270G>T	AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2153	protein-coding gene	gene with protein product		605080	"""achromatopsia (rod monochromacy) 3"", ""achromatopsia (rod monochromacy) 1"""	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.620C>A	8.37:g.87680270G>T	ENSP00000316605:p.Pro207Gln					CNGB3_uc010maj.2_Missense_Mutation_p.P69Q	p.P207Q	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN			5	666	-			207			Cytoplasmic (Potential).		C9JA51|Q9NRE9	Missense_Mutation	SNP	ENST00000320005.5	37	c.620C>A	CCDS6244.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.034043	0.75504	.	.	ENSG00000170289	ENST00000320005	D	0.97352	-4.35	6.1	6.1	0.99115	.	0.118777	0.56097	D	0.000023	D	0.98463	0.9488	M	0.83603	2.65	0.49915	D	0.999831	D;D	0.63880	0.993;0.988	D;P	0.65987	0.94;0.873	D	0.98554	1.0638	10	0.56958	D	0.05	.	19.7028	0.96062	0.0:0.0:1.0:0.0	.	207;207	Q9NQW8-2;Q9NQW8	.;CNGB3_HUMAN	Q	207	ENSP00000316605:P207Q	ENSP00000316605:P207Q	P	-	2	0	CNGB3	87749386	1.000000	0.71417	0.309000	0.25155	0.005000	0.04900	5.128000	0.64733	2.902000	0.99343	0.650000	0.86243	CCA		PASS	0.388	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375107.1	NM_019098		24	162	24	162	---	---	---	---
RUNX1T1	862	broad.mit.edu	37	8	93003993	93003993	+	Missense_Mutation	SNP	G	G	T	rs201542863		TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr8:93003993G>T	ENST00000523629.1	-	7	1319	c.865C>A	c.(865-867)Ctg>Atg	p.L289M	RUNX1T1_ENST00000518844.1_Missense_Mutation_p.L262M|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.L289M|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.L252M|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.L252M|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.L300M|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.L252M|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.L262M	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	289					fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L289M(1)|p.L252M(1)|p.L300M(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			GGGTGAGGCAGGCCATTGGGC	0.557																																						uc003yfd.2																			3	Substitution - Missense(3)		lung(3)	lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1)	16						c.(865-867)CTG>ATG		acute myelogenous leukemia 1 translocation 1							218.0	175.0	190.0					8																	93003993		2203	4300	6503	SO:0001583	missense	862				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:93003993G>T	D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"""Zinc fingers, MYND-type"""	1535	protein-coding gene	gene with protein product		133435	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"""	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.865C>A	8.37:g.93003993G>T	ENSP00000428543:p.Leu289Met					RUNX1T1_uc003yfc.1_Missense_Mutation_p.L262M|RUNX1T1_uc003yfe.1_Missense_Mutation_p.L252M|RUNX1T1_uc010mao.2_Missense_Mutation_p.L262M|RUNX1T1_uc011lgi.1_Missense_Mutation_p.L300M|RUNX1T1_uc010man.1_Translation_Start_Site|RUNX1T1_uc003yfb.1_Missense_Mutation_p.L252M	p.L289M	NM_175634	NP_783552	Q06455	MTG8_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0141)		6	949	-			289					B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Missense_Mutation	SNP	ENST00000523629.1	37	c.865C>A	CCDS6256.1	.	.	.	.	.	.	.	.	.	.	G	18.72	3.684909	0.68157	.	.	ENSG00000079102	ENST00000523629;ENST00000396218;ENST00000265814;ENST00000360348;ENST00000422361;ENST00000520724;ENST00000436581;ENST00000518844	T;T;T;T;T;T;T;T	0.33865	1.4;1.39;1.4;1.39;1.39;1.39;1.39;1.39	6.17	5.25	0.73442	.	0.063133	0.64402	D	0.000004	T	0.50394	0.1613	M	0.68317	2.08	0.54753	D	0.999989	P;P;P	0.47545	0.847;0.835;0.897	B;P;P	0.53401	0.416;0.535;0.725	T	0.34030	-0.9845	10	0.34782	T	0.22	-11.5454	16.0644	0.80861	0.0:0.0:0.8653:0.1347	.	300;289;262	E7EPN4;Q06455;Q06455-2	.;MTG8_HUMAN;.	M	289;262;289;252;252;252;300;262	ENSP00000428543:L289M;ENSP00000379520:L262M;ENSP00000265814:L289M;ENSP00000353504:L252M;ENSP00000390137:L252M;ENSP00000428742:L252M;ENSP00000402257:L300M;ENSP00000430728:L262M	ENSP00000265814:L289M	L	-	1	2	RUNX1T1	93073169	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.309000	0.65774	2.941000	0.99782	0.655000	0.94253	CTG		PASS	0.557	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635		8	70	8	70	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113326784	113326784	+	Missense_Mutation	SNP	G	G	C			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr8:113326784G>C	ENST00000297405.5	-	48	7667	c.7423C>G	c.(7423-7425)Cct>Gct	p.P2475A	CSMD3_ENST00000343508.3_Missense_Mutation_p.P2435A|CSMD3_ENST00000455883.2_Missense_Mutation_p.P2371A|CSMD3_ENST00000352409.3_Missense_Mutation_p.P2405A	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2475	CUB 14. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P2475A(1)|p.P2435A(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						TAACTGTCAGGATATCCAGGG	0.388										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2																			2	Substitution - Missense(2)		lung(2)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(7423-7425)CCT>GCT		CUB and Sushi multiple domains 3 isoform 1							100.0	96.0	97.0					8																	113326784		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113326784G>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.7423C>G	8.37:g.113326784G>C	ENSP00000297405:p.Pro2475Ala	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.P1677A|CSMD3_uc003ynt.2_Missense_Mutation_p.P2435A|CSMD3_uc011lhx.1_Missense_Mutation_p.P2371A|CSMD3_uc003ynw.1_Missense_Mutation_p.P186A	p.P2475A	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			48	7582	-			2475			CUB 14.|Extracellular (Potential).		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.7423C>G	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.659194	0.88154	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17;-0.17	4.98	4.98	0.66077	CUB (5);	0.000000	0.64402	D	0.000001	D	0.86912	0.6047	H	0.97962	4.115	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.91635	0.999;0.999;0.984	D	0.89669	0.3882	10	0.36615	T	0.2	.	18.4156	0.90568	0.0:0.0:1.0:0.0	.	2371;2475;2435	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	A	2435;2475;1745;2371;2405	ENSP00000345799:P2435A;ENSP00000297405:P2475A;ENSP00000341558:P1745A;ENSP00000412263:P2371A;ENSP00000343124:P2405A	ENSP00000297405:P2475A	P	-	1	0	CSMD3	113395960	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.652000	0.98499	2.576000	0.86940	0.579000	0.79373	CCT		PASS	0.388	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		8	47	8	47	---	---	---	---
MTBP	27085	broad.mit.edu	37	8	121509646	121509646	+	Silent	SNP	G	G	A			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr8:121509646G>A	ENST00000305949.1	+	14	1506	c.1461G>A	c.(1459-1461)ttG>ttA	p.L487L		NM_022045.4	NP_071328.2	Q96DY7	MTBP_HUMAN	MDM2 binding protein	487					cell cycle arrest (GO:0007050)|mitotic spindle checkpoint (GO:0071174)|negative regulation of cell proliferation (GO:0008285)|protein localization to kinetochore (GO:0034501)|traversing start control point of mitotic cell cycle (GO:0007089)	chromatin (GO:0000785)|kinetochore (GO:0000776)		p.L487L(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			GACGAAAGTTGGCAAAGCAGC	0.328																																						uc003ypc.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)	3						c.(1459-1461)TTG>TTA		Mdm2, transformed 3T3 cell double minute 2, p53							58.0	63.0	61.0					8																	121509646		2203	4297	6500	SO:0001819	synonymous_variant	27085				cell cycle arrest			g.chr8:121509646G>A		CCDS6333.1	8q24.1-q24.2	2014-03-03	2014-03-03		ENSG00000172167	ENSG00000172167			7417	protein-coding gene	gene with protein product		605927	"""MDM2 (mouse double minute 2)-binding protein, 104kD"", ""Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa"""			10906133, 11060448	Standard	NM_022045		Approved		uc003ypc.2	Q96DY7	OTTHUMG00000165040	ENST00000305949.1:c.1461G>A	8.37:g.121509646G>A							p.L487L	NM_022045	NP_071328	Q96DY7	MTBP_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		14	1506	+	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		487					B4DUR5|Q9HA89	Silent	SNP	ENST00000305949.1	37	c.1461G>A	CCDS6333.1																																																																																				PASS	0.328	MTBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381530.1	NM_022045		10	36	10	36	---	---	---	---
KLHL38	340359	broad.mit.edu	37	8	124664148	124664148	+	Missense_Mutation	SNP	A	A	T			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr8:124664148A>T	ENST00000325995.7	-	1	1042	c.1019T>A	c.(1018-1020)aTg>aAg	p.M340K	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	340								p.M340K(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						GCTGACAGCCATGCCCCCCAG	0.592																																						uc003yqs.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1018-1020)ATG>AAG		kelch-like 38							61.0	63.0	62.0					8																	124664148		2029	4185	6214	SO:0001583	missense	340359							g.chr8:124664148A>T		CCDS43766.1	8q24.13	2013-02-22	2013-02-22		ENSG00000175946	ENSG00000175946		"""Kelch-like"", ""BTB/POZ domain containing"""	34435	protein-coding gene	gene with protein product			"""kelch-like 38 (Drosophila)"""				Standard	NM_001081675		Approved	C8ORFK36	uc003yqs.1	Q2WGJ6	OTTHUMG00000164983	ENST00000325995.7:c.1019T>A	8.37:g.124664148A>T	ENSP00000321475:p.Met340Lys						p.M340K	NM_001081675	NP_001075144	Q2WGJ6	KLH38_HUMAN			1	1043	-			340			Kelch 2.		A0PK12	Missense_Mutation	SNP	ENST00000325995.7	37	c.1019T>A	CCDS43766.1	.	.	.	.	.	.	.	.	.	.	A	14.43	2.532708	0.45073	.	.	ENSG00000175946	ENST00000325995	T	0.65916	-0.18	5.18	5.18	0.71444	Kelch-type beta propeller (1);	0.045474	0.85682	D	0.000000	T	0.53546	0.1803	L	0.37897	1.145	0.48632	D	0.999684	B	0.29037	0.231	B	0.25987	0.065	T	0.55842	-0.8077	10	0.56958	D	0.05	.	15.3281	0.74182	1.0:0.0:0.0:0.0	.	340	Q2WGJ6	KLH38_HUMAN	K	340	ENSP00000321475:M340K	ENSP00000321475:M340K	M	-	2	0	KLHL38	124733329	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	6.125000	0.71627	2.079000	0.62486	0.459000	0.35465	ATG		PASS	0.592	KLHL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381288.1			17	51	17	51	---	---	---	---
COL22A1	169044	broad.mit.edu	37	8	139601533	139601533	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr8:139601533C>A	ENST00000303045.6	-	65	5290	c.4844G>T	c.(4843-4845)aGc>aTc	p.S1615I	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.S1595I	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1615					extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.S1615I(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GGCAGCAAGGCTGGCGAAGTA	0.607										HNSCC(7;0.00092)																												uc003yvd.2																			1	Substitution - Missense(1)		lung(1)	ovary(11)|pancreas(1)|skin(1)	13						c.(4843-4845)AGC>ATC		collagen, type XXII, alpha 1							40.0	41.0	40.0					8																	139601533		2203	4300	6503	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139601533C>A	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.4844G>T	8.37:g.139601533C>A	ENSP00000303153:p.Ser1615Ile	HNSCC(7;0.00092)				COL22A1_uc011ljo.1_Missense_Mutation_p.S895I	p.S1615I	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		65	5291	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1615					B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.4844G>T	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	C	19.63	3.863867	0.71949	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.89485	-2.52;-2.43	6.17	5.3	0.74995	.	0.097116	0.44902	D	0.000415	D	0.94169	0.8129	M	0.80746	2.51	0.58432	D	0.999996	D;P	0.55172	0.97;0.857	D;P	0.68192	0.956;0.58	D	0.94743	0.7920	10	0.72032	D	0.01	.	14.7151	0.69262	0.0:0.9314:0.0:0.0686	.	1595;1615	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	I	1615;1595;1308	ENSP00000303153:S1615I;ENSP00000387655:S1595I	ENSP00000303153:S1615I	S	-	2	0	COL22A1	139670715	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.599000	0.67592	1.637000	0.50538	0.655000	0.94253	AGC		PASS	0.607	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		7	26	7	26	---	---	---	---
COL22A1	169044	broad.mit.edu	37	8	139733018	139733018	+	Missense_Mutation	SNP	T	T	A			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr8:139733018T>A	ENST00000303045.6	-	27	2765	c.2319A>T	c.(2317-2319)agA>agT	p.R773S	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.R773S	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	773	Collagen-like 5.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.R773S(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CATCTTCCCCTCTTTCTCCTG	0.483										HNSCC(7;0.00092)																												uc003yvd.2																			1	Substitution - Missense(1)		lung(1)	ovary(11)|pancreas(1)|skin(1)	13						c.(2317-2319)AGA>AGT		collagen, type XXII, alpha 1							222.0	204.0	210.0					8																	139733018		2203	4300	6503	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139733018T>A	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.2319A>T	8.37:g.139733018T>A	ENSP00000303153:p.Arg773Ser	HNSCC(7;0.00092)				COL22A1_uc011ljo.1_Missense_Mutation_p.R73S	p.R773S	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		27	2766	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		773			Collagen-like 5.|Pro-rich.|Gly-rich.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.2319A>T	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	T	6.000	0.368341	0.11352	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.94232	-3.13;-3.38	4.56	0.465	0.16711	.	0.121588	0.35525	U	0.003151	D	0.84215	0.5423	N	0.25380	0.74	0.09310	N	0.999994	B;B	0.06786	0.001;0.001	B;B	0.12837	0.005;0.008	T	0.68671	-0.5347	10	0.21014	T	0.42	.	5.2117	0.15320	0.1799:0.0:0.3445:0.4755	.	773;773	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	S	773;773;486	ENSP00000303153:R773S;ENSP00000387655:R773S	ENSP00000303153:R773S	R	-	3	2	COL22A1	139802200	0.333000	0.24731	0.164000	0.22755	0.887000	0.51463	0.219000	0.17641	-0.002000	0.14469	0.460000	0.39030	AGA		PASS	0.483	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		15	143	15	143	---	---	---	---
LINGO2	158038	broad.mit.edu	37	9	27949789	27949789	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr9:27949789G>T	ENST00000379992.2	-	6	1330	c.881C>A	c.(880-882)tCt>tAt	p.S294Y	LINGO2_ENST00000308675.3_Missense_Mutation_p.S294Y	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	294						integral component of membrane (GO:0016021)		p.S294Y(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		GATCAGGTCAGAGAACATGCC	0.522																																						uc003zqu.1																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(880-882)TCT>TAT		leucine rich repeat and Ig domain containing 2							151.0	146.0	147.0					9																	27949789		2203	4300	6503	SO:0001583	missense	158038					integral to membrane		g.chr9:27949789G>T	AL353746	CCDS6524.1	9p21.2	2013-01-11	2007-02-01	2007-02-01	ENSG00000174482	ENSG00000174482		"""Immunoglobulin superfamily / I-set domain containing"""	21207	protein-coding gene	gene with protein product		609793	"""leucine rich repeat neuronal 6C"""	LRRN6C		14686891	Standard	NM_152570		Approved	LERN3	uc003zqu.2	Q7L985	OTTHUMG00000019721	ENST00000379992.2:c.881C>A	9.37:g.27949789G>T	ENSP00000369328:p.Ser294Tyr					LINGO2_uc010mjf.1_Missense_Mutation_p.S294Y|LINGO2_uc003zqv.1_Missense_Mutation_p.S294Y	p.S294Y	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)	2	1075	-	Melanoma(11;0.242)	all_neural(11;2.78e-09)	294			LRR 10.|Extracellular (Potential).		A8K4K7|B2RPM5|Q6ZMD0	Missense_Mutation	SNP	ENST00000379992.2	37	c.881C>A	CCDS6524.1	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.576205	0.00887	.	.	ENSG00000174482	ENST00000379992;ENST00000308675	T;T	0.80738	-1.41;-1.41	5.95	5.95	0.96441	.	0.242391	0.43579	D	0.000541	T	0.73567	0.3603	L	0.41079	1.255	0.49798	D	0.999827	B	0.06786	0.001	B	0.13407	0.009	T	0.66106	-0.6006	9	.	.	.	.	15.1469	0.72662	0.0:0.0:0.8588:0.1412	.	294	Q7L985	LIGO2_HUMAN	Y	294	ENSP00000369328:S294Y;ENSP00000310126:S294Y	.	S	-	2	0	LINGO2	27939789	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.314000	0.51943	2.824000	0.97209	0.655000	0.94253	TCT		PASS	0.522	LINGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051978.2	NM_152570		9	45	9	45	---	---	---	---
TAF1L	138474	broad.mit.edu	37	9	32635006	32635006	+	Missense_Mutation	SNP	G	G	C			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr9:32635006G>C	ENST00000242310.4	-	1	661	c.572C>G	c.(571-573)gCc>gGc	p.A191G	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	191					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)	p.A191G(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		AAAGGAAGGGGCAATGATGGA	0.483																																						uc003zrg.1																			1	Substitution - Missense(1)		lung(1)	lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26						c.(571-573)GCC>GGC		TBP-associated factor RNA polymerase 1-like							143.0	118.0	127.0					9																	32635006		2203	4300	6503	SO:0001583	missense	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32635006G>C	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.572C>G	9.37:g.32635006G>C	ENSP00000418379:p.Ala191Gly					uc003zrh.1_RNA	p.A191G	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	662	-			191					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.572C>G	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	G	8.128	0.782500	0.16189	.	.	ENSG00000122728	ENST00000242310	T	0.08458	3.09	1.04	1.04	0.20106	.	0.068988	0.53938	N	0.000049	T	0.06325	0.0163	N	0.22421	0.69	0.26931	N	0.966473	D	0.53745	0.962	P	0.46885	0.53	T	0.35847	-0.9772	10	0.25106	T	0.35	.	7.4859	0.27432	0.0:0.0:1.0:0.0	.	191	Q8IZX4	TAF1L_HUMAN	G	191	ENSP00000418379:A191G	ENSP00000418379:A191G	A	-	2	0	TAF1L	32625006	1.000000	0.71417	0.984000	0.44739	0.194000	0.23727	6.138000	0.71717	0.507000	0.28148	0.195000	0.17529	GCC		PASS	0.483	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			4	35	4	35	---	---	---	---
PCSK5	5125	broad.mit.edu	37	9	78965771	78965771	+	Missense_Mutation	SNP	G	G	C			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr9:78965771G>C	ENST00000545128.1	+	35	5451	c.4913G>C	c.(4912-4914)tGt>tCt	p.C1638S		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	1638	CRM (Cys-rich motif).				anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)	p.C1638S(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TGTTTATCCTGTGTGTGGAGT	0.478																																						uc004akc.1																			1	Substitution - Missense(1)		lung(1)								c.(1168-1170)TGT>TCT		Homo sapiens cDNA FLJ16215 fis, clone CTONG2025610, moderately similar to PC6B.							183.0	171.0	175.0					9																	78965771		876	1991	2867	SO:0001583	missense	0							g.chr9:78965771G>C		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.4913G>C	9.37:g.78965771G>C	ENSP00000446280:p.Cys1638Ser						p.C390S							8	1389	+								F5H2G7|Q13527|Q96EP4	Missense_Mutation	SNP	ENST00000545128.1	37	c.1169G>C	CCDS55320.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.321235	0.81580	.	.	ENSG00000099139	ENST00000545128;ENST00000376754;ENST00000424854	D;D	0.87887	-2.31;-2.31	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.96506	0.8860	H	0.98256	4.185	0.58432	D	0.999999	.	.	.	.	.	.	D	0.97219	0.9876	8	0.87932	D	0	-14.8459	20.1777	0.98189	0.0:0.0:1.0:0.0	.	.	.	.	S	1638;1368;1338	ENSP00000446280:C1638S;ENSP00000411654:C1338S	ENSP00000365945:C1368S	C	+	2	0	PCSK5	78155591	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	6.821000	0.75272	2.941000	0.99782	0.655000	0.94253	TGT		PASS	0.478	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				4	80	4	80	---	---	---	---
SPATA31D1	389763	broad.mit.edu	37	9	84608660	84608660	+	Missense_Mutation	SNP	C	C	T			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr9:84608660C>T	ENST00000344803.2	+	4	3322	c.3275C>T	c.(3274-3276)cCg>cTg	p.P1092L		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	1092					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.P1092L(2)									TTTCTGCCCCCGCCACACAGC	0.517																																						uc004amn.2																			2	Substitution - Missense(2)		lung(2)		0						c.(3274-3276)CCG>CTG		hypothetical protein LOC389763																																				SO:0001583	missense	389763					integral to membrane		g.chr9:84608660C>T		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.3275C>T	9.37:g.84608660C>T	ENSP00000341988:p.Pro1092Leu						p.P1092L	NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN			4	3322	+			1092						Missense_Mutation	SNP	ENST00000344803.2	37	c.3275C>T	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	C	0.362	-0.938723	0.02340	.	.	ENSG00000214929	ENST00000344803	T	0.03951	3.75	1.86	-3.71	0.04424	.	.	.	.	.	T	0.01627	0.0052	N	0.03608	-0.345	0.09310	N	1	B	0.21381	0.055	B	0.11329	0.006	T	0.44283	-0.9338	9	0.28530	T	0.3	1.068	0.4368	0.00480	0.2053:0.3109:0.2077:0.2761	.	1092	Q6ZQQ2	F75D1_HUMAN	L	1092	ENSP00000341988:P1092L	ENSP00000341988:P1092L	P	+	2	0	FAM75D1	83798480	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.743000	0.04845	-1.257000	0.02475	-1.319000	0.01295	CCG		PASS	0.517	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		4	43	4	43	---	---	---	---
SPATA31E1	286234	broad.mit.edu	37	9	90502826	90502826	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr9:90502826G>T	ENST00000325643.5	+	4	3490	c.3424G>T	c.(3424-3426)Gac>Tac	p.D1142Y		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	1142					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.D1142Y(1)									CACTGCCGCAGACAGGCTGCC	0.652																																						uc004app.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(3424-3426)GAC>TAC		chromosome 9 open reading frame 79							41.0	47.0	45.0					9																	90502826		2200	4300	6500	SO:0001583	missense	286234					integral to membrane		g.chr9:90502826G>T	AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 79"", ""family with sequence similarity 75, member E1"""	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.3424G>T	9.37:g.90502826G>T	ENSP00000322640:p.Asp1142Tyr						p.D1142Y	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN			4	3459	+			1142					B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Missense_Mutation	SNP	ENST00000325643.5	37	c.3424G>T	CCDS6676.1	.	.	.	.	.	.	.	.	.	.	g	8.848	0.943888	0.18281	.	.	ENSG00000177992	ENST00000325643	T	0.04360	3.64	3.03	3.03	0.35002	.	3.870670	0.00760	N	0.001131	T	0.07007	0.0178	L	0.32530	0.975	0.09310	N	1	P	0.46020	0.871	B	0.41764	0.366	T	0.34925	-0.9809	10	0.56958	D	0.05	.	9.7668	0.40565	0.0:0.0:1.0:0.0	.	1142	Q6ZUB1	CI079_HUMAN	Y	1142	ENSP00000322640:D1142Y	ENSP00000322640:D1142Y	D	+	1	0	C9orf79	89692646	0.007000	0.16637	0.004000	0.12327	0.006000	0.05464	0.983000	0.29552	2.008000	0.58898	0.655000	0.94253	GAC		PASS	0.652	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828		4	39	4	39	---	---	---	---
ZFP37	7539	broad.mit.edu	37	9	115805640	115805640	+	Missense_Mutation	SNP	G	G	C			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr9:115805640G>C	ENST00000374227.3	-	4	1285	c.1258C>G	c.(1258-1260)Ctt>Gtt	p.L420V	ZFP37_ENST00000553380.1_Missense_Mutation_p.L435V|ZFP37_ENST00000555206.1_Missense_Mutation_p.L421V	NM_001282515.1|NM_001282518.1	NP_001269444.1|NP_001269447.1	Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	420					regulation of transcription, DNA-templated (GO:0006355)|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.L420V(1)		NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						TGTTCGGTAAGAGATGAGTTA	0.388																																						uc004bgm.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1258-1260)CTT>GTT		zinc finger protein 37 homolog							125.0	120.0	122.0					9																	115805640		2203	4300	6503	SO:0001583	missense	7539					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:115805640G>C	AF022158	CCDS6787.1, CCDS65109.1, CCDS65110.1	9q32	2013-01-08	2012-11-27		ENSG00000136866	ENSG00000136866		"""Zinc fingers, C2H2-type"", ""-"""	12863	protein-coding gene	gene with protein product		602951	"""zinc finger protein homologous to Zfp37 in mouse"", ""zinc finger protein 37 homolog (mouse)"""				Standard	NM_001282515		Approved	ZNF906	uc004bgm.1	Q9Y6Q3	OTTHUMG00000021019	ENST00000374227.3:c.1258C>G	9.37:g.115805640G>C	ENSP00000363344:p.Leu420Val					ZFP37_uc011lwz.1_Missense_Mutation_p.L435V|ZFP37_uc011lxa.1_Missense_Mutation_p.L421V	p.L420V	NM_003408	NP_003399	Q9Y6Q3	ZFP37_HUMAN			4	1286	-			420			C2H2-type 5.		A0AVJ9|B4DVX4|G3V3L7|Q5T7Q4	Missense_Mutation	SNP	ENST00000374227.3	37	c.1258C>G	CCDS6787.1	.	.	.	.	.	.	.	.	.	.	G	12.17	1.856337	0.32791	.	.	ENSG00000136866	ENST00000374227;ENST00000555206;ENST00000553380	T;T;T	0.52983	0.64;0.64;0.64	4.02	4.02	0.46733	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.39544	N	0.001338	T	0.62502	0.2433	M	0.66439	2.03	0.33432	D	0.581315	D;D;D	0.65815	0.995;0.995;0.973	P;P;P	0.61132	0.884;0.884;0.882	T	0.74349	-0.3694	10	0.72032	D	0.01	-10.8241	14.4629	0.67465	0.0:0.0:1.0:0.0	.	421;435;420	G3V3L7;Q9Y6Q3-2;Q9Y6Q3	.;.;ZFP37_HUMAN	V	420;421;435	ENSP00000363344:L420V;ENSP00000451310:L421V;ENSP00000452552:L435V	ENSP00000363344:L420V	L	-	1	0	ZFP37	114845461	0.977000	0.34250	1.000000	0.80357	0.995000	0.86356	2.278000	0.43426	2.528000	0.85240	0.655000	0.94253	CTT		PASS	0.388	ZFP37-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055439.1	NM_003408		8	109	8	109	---	---	---	---
TLR4	7099	broad.mit.edu	37	9	120475061	120475061	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr9:120475061C>A	ENST00000355622.6	+	3	756	c.655C>A	c.(655-657)Caa>Aaa	p.Q219K	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.Q179K	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	219					activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|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 signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.Q219K(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	GAACTTTATCCAACCAGGTGC	0.363																																						uc004bjz.2																			1	Substitution - Missense(1)		lung(1)	lung(10)|ovary(4)|breast(1)|skin(1)	16						c.(655-657)CAA>AAA		toll-like receptor 4 precursor							54.0	60.0	58.0					9																	120475061		2188	4294	6482	SO:0001583	missense	7099				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	g.chr9:120475061C>A	U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"""CD molecules"""	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.655C>A	9.37:g.120475061C>A	ENSP00000363089:p.Gln219Lys					TLR4_uc004bka.2_Missense_Mutation_p.Q179K|TLR4_uc004bkb.2_Missense_Mutation_p.Q19K	p.Q219K	NM_138554	NP_612564	O00206	TLR4_HUMAN			3	946	+			219			LRR 7.|Extracellular (Potential).		A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Missense_Mutation	SNP	ENST00000355622.6	37	c.655C>A	CCDS6818.1	.	.	.	.	.	.	.	.	.	.	C	8.771	0.925943	0.18056	.	.	ENSG00000136869	ENST00000394487;ENST00000355622	T;T	0.37915	1.47;1.17	5.59	1.27	0.21489	.	0.514632	0.19280	N	0.118183	T	0.35770	0.0943	M	0.61703	1.905	0.09310	N	1	B	0.30104	0.268	B	0.27715	0.082	T	0.35773	-0.9775	10	0.72032	D	0.01	.	14.4625	0.67459	0.0:0.3066:0.6254:0.0679	.	219	O00206	TLR4_HUMAN	K	179;219	ENSP00000377997:Q179K;ENSP00000363089:Q219K	ENSP00000363089:Q219K	Q	+	1	0	TLR4	119514882	0.009000	0.17119	0.006000	0.13384	0.345000	0.29048	-0.008000	0.12788	0.261000	0.21753	0.655000	0.94253	CAA		PASS	0.363	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554		5	66	5	66	---	---	---	---
TRAF1	7185	broad.mit.edu	37	9	123675906	123675906	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr9:123675906C>A	ENST00000373887.3	-	5	2850	c.405G>T	c.(403-405)gaG>gaT	p.E135D	TRAF1_ENST00000540010.1_Missense_Mutation_p.E135D|TRAF1_ENST00000546084.1_Missense_Mutation_p.E13D	NM_005658.4	NP_005649.1	Q13077	TRAF1_HUMAN	TNF receptor-associated factor 1	135					apoptotic process (GO:0006915)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein complex assembly (GO:0006461)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.E135D(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(4)|pancreas(1)|skin(2)	22						TGGGCCCAGACTCCAGGCCAC	0.632																																						uc004bku.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(403-405)GAG>GAT		TNF receptor-associated factor 1							36.0	38.0	38.0					9																	123675906		2203	4300	6503	SO:0001583	missense	7185				apoptosis|positive regulation of NF-kappaB transcription factor activity|protein complex assembly|regulation of apoptosis|signal transduction	cytoplasm	protein binding|zinc ion binding	g.chr9:123675906C>A	AK090468	CCDS6825.1, CCDS55335.1	9q33-q34	2008-02-05			ENSG00000056558	ENSG00000056558			12031	protein-coding gene	gene with protein product		601711				8069916	Standard	NM_001190945		Approved	EBI6	uc010mvl.2	Q13077	OTTHUMG00000020578	ENST00000373887.3:c.405G>T	9.37:g.123675906C>A	ENSP00000362994:p.Glu135Asp					TRAF1_uc011lyg.1_Missense_Mutation_p.E13D|TRAF1_uc010mvl.1_Missense_Mutation_p.E135D	p.E135D	NM_005658	NP_005649	Q13077	TRAF1_HUMAN			5	977	-			135					B4DJ77|Q658U1|Q8NF13	Missense_Mutation	SNP	ENST00000373887.3	37	c.405G>T	CCDS6825.1	.	.	.	.	.	.	.	.	.	.	C	5.702	0.313984	0.10789	.	.	ENSG00000056558	ENST00000373887;ENST00000540010;ENST00000546084	T;T;T	0.44083	1.4;1.4;0.93	4.98	-1.34	0.09143	.	1.224790	0.05583	N	0.573196	T	0.25717	0.0626	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.23013	-1.0200	10	0.12766	T	0.61	-17.4459	12.4743	0.55803	0.1211:0.3736:0.5053:0.0	.	135	Q13077	TRAF1_HUMAN	D	135;135;13	ENSP00000362994:E135D;ENSP00000443183:E135D;ENSP00000438583:E13D	ENSP00000362994:E135D	E	-	3	2	TRAF1	122715727	0.000000	0.05858	0.014000	0.15608	0.646000	0.38490	-0.514000	0.06298	-0.104000	0.12154	0.455000	0.32223	GAG		PASS	0.632	TRAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053843.1	NM_005658		12	47	12	47	---	---	---	---
CNTRL	11064	broad.mit.edu	37	9	123874791	123874791	+	Missense_Mutation	SNP	G	G	A			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr9:123874791G>A	ENST00000373855.1	+	9	1317	c.1057G>A	c.(1057-1059)Gaa>Aaa	p.E353K	CNTRL_ENST00000238341.5_Missense_Mutation_p.E353K|CNTRL_ENST00000373865.2_Missense_Mutation_p.E353K			Q7Z7A1	CNTRL_HUMAN	centriolin	353					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)		p.E353K(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						ATATGAGCTGGAACAGGAATT	0.328																																						uc004bkx.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1057-1059)GAA>AAA		centrosomal protein 110kDa							112.0	109.0	110.0					9																	123874791		2203	4300	6503	SO:0001583	missense	11064				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding	g.chr9:123874791G>A	AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"""centrosomal protein 1"", ""centrosomal protein 110kDa"""	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.1057G>A	9.37:g.123874791G>A	ENSP00000362962:p.Glu353Lys					CEP110_uc004bkw.2_Missense_Mutation_p.E353K|CEP110_uc004bky.1_5'UTR	p.E353K	NM_007018	NP_008949	Q7Z7A1	CNTRL_HUMAN			7	1088	+			353					A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Missense_Mutation	SNP	ENST00000373855.1	37	c.1057G>A	CCDS35118.1	.	.	.	.	.	.	.	.	.	.	G	33	5.252717	0.95336	.	.	ENSG00000119397	ENST00000373865;ENST00000373855;ENST00000238341;ENST00000454238	T;T	0.34859	1.34;1.34	5.48	5.48	0.80851	.	.	.	.	.	T	0.56775	0.2008	L	0.55481	1.735	0.47778	D	0.999514	D	0.69078	0.997	D	0.75020	0.985	T	0.54616	-0.8267	9	0.54805	T	0.06	.	18.2801	0.90096	0.0:0.0:1.0:0.0	.	353	Q7Z7A1	CNTRL_HUMAN	K	353	ENSP00000362962:E353K;ENSP00000238341:E353K	ENSP00000238341:E353K	E	+	1	0	CNTRL	122914612	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.568000	0.82369	2.734000	0.93682	0.563000	0.77884	GAA		PASS	0.328	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250216.1	NM_007018		6	47	6	47	---	---	---	---
OR1L1	26737	broad.mit.edu	37	9	125423912	125423912	+	Missense_Mutation	SNP	A	A	G			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr9:125423912A>G	ENST00000373686.1	+	1	68	c.68A>G	c.(67-69)aAa>aGa	p.K23R	OR1L1_ENST00000309623.1_5'Flank			Q8NH94	OR1L1_HUMAN	olfactory receptor, family 1, subfamily L, member 1	23						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K23R(1)		breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						AAGAAGAATAAAAGGAGAAAT	0.284																																						uc011lza.1																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)	4						c.(67-69)AAA>AGA		olfactory receptor, family 1, subfamily L,							47.0	49.0	48.0					9																	125423912		2203	4300	6503	SO:0001583	missense	26737				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125423912A>G		CCDS35127.1, CCDS35127.2	9q33.2	2013-09-20			ENSG00000173679	ENSG00000173679		"""GPCR / Class A : Olfactory receptors"""	8213	protein-coding gene	gene with protein product				OR1L2			Standard	NM_001005236		Approved	OR9-C	uc022bmz.1	Q8NH94	OTTHUMG00000020618	ENST00000373686.1:c.68A>G	9.37:g.125423912A>G	ENSP00000362790:p.Lys23Arg						p.K23R	NM_001005236	NP_001005236	Q8NH94	OR1L1_HUMAN			1	68	+			23			Extracellular (Potential).		Q5T7Z3|Q6IFN2	Missense_Mutation	SNP	ENST00000373686.1	37	c.68A>G		.	.	.	.	.	.	.	.	.	.	A	9.193	1.026571	0.19512	.	.	ENSG00000173679	ENST00000373686	T	0.00051	8.81	2.87	1.74	0.24563	.	.	.	.	.	T	0.00073	0.0002	.	.	.	0.09310	N	1	P	0.51057	0.941	B	0.43889	0.435	T	0.02546	-1.1143	8	0.07325	T	0.83	.	5.3803	0.16187	0.8505:0.0:0.1495:0.0	.	23	Q8NH94	OR1L1_HUMAN	R	23	ENSP00000362790:K23R	ENSP00000362790:K23R	K	+	2	0	OR1L1	124463733	0.001000	0.12720	0.008000	0.14137	0.035000	0.12851	0.201000	0.17276	1.244000	0.43870	0.260000	0.18958	AAA		PASS	0.284	OR1L1-201	KNOWN	basic	protein_coding	protein_coding				6	34	6	34	---	---	---	---
LMX1B	4010	broad.mit.edu	37	9	129455563	129455563	+	Silent	SNP	C	C	T			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr9:129455563C>T	ENST00000373474.4	+	4	709	c.702C>T	c.(700-702)ttC>ttT	p.F234F	LMX1B_ENST00000561065.1_Silent_p.F211F|LMX1B_ENST00000526117.1_Silent_p.F234F|LMX1B_ENST00000355497.5_Silent_p.F234F|LMX1B_ENST00000425646.2_Silent_p.F211F			O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	234					cell proliferation (GO:0008283)|central nervous system neuron development (GO:0021954)|cerebellum morphogenesis (GO:0021587)|collagen fibril organization (GO:0030199)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral pattern formation (GO:0009953)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|midbrain development (GO:0030901)|multicellular organismal development (GO:0007275)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|organ growth (GO:0035265)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|trabecular meshwork development (GO:0002930)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.F211F(1)|p.F234F(1)		endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						GAAGAGCCTTCAAGGCCTCCT	0.687									Nail-Patella Syndrome																												Pancreas(110;1796 2278 18357 20466)	uc004bqj.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(631-633)TTC>TTT		LIM homeobox transcription factor 1, beta							35.0	38.0	37.0					9																	129455563		2200	4299	6499	SO:0001819	synonymous_variant	4010	Nail-Patella_Syndrome	Familial Cancer Database	Osteo-Onychodysplasia, Turner-Kieser syndrome, Fong disease	dorsal/ventral pattern formation|in utero embryonic development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:129455563C>T	U77457	CCDS6866.1, CCDS6866.2, CCDS55342.1, CCDS55343.1	9q33.3	2011-06-20			ENSG00000136944	ENSG00000136944		"""Homeoboxes / LIM class"""	6654	protein-coding gene	gene with protein product		602575		NPS1		9441763, 9590287	Standard	NM_002316		Approved		uc004bqj.3	O60663	OTTHUMG00000020692	ENST00000373474.4:c.702C>T	9.37:g.129455563C>T						LMX1B_uc004bqi.2_Silent_p.F211F|LMX1B_uc011maa.1_Silent_p.F211F	p.F211F	NM_002316	NP_002307	O60663	LMX1B_HUMAN			4	683	+			211			Homeobox.		F8W7W6|O75463|Q5JU95|Q6ISC9	Silent	SNP	ENST00000373474.4	37	c.633C>T	CCDS55342.1																																																																																				PASS	0.687	LMX1B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054123.2			3	13	3	13	---	---	---	---
PPP1R26	9858	broad.mit.edu	37	9	138379288	138379288	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr9:138379288G>T	ENST00000356818.2	+	4	3481	c.2932G>T	c.(2932-2934)Ggt>Tgt	p.G978C	PPP1R26_ENST00000401470.3_Missense_Mutation_p.G978C|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605286.1_Missense_Mutation_p.G978C|PPP1R26_ENST00000604351.1_Missense_Mutation_p.G978C|PPP1R26_ENST00000605660.1_Missense_Mutation_p.G978C	NM_014811.3	NP_055626.3	Q5T8A7	PPR26_HUMAN	protein phosphatase 1, regulatory subunit 26	978					negative regulation of phosphatase activity (GO:0010923)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)	p.G978C(1)									AAGTGCTTTTGGTCAGCTGCC	0.632																																						uc004cfr.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(2932-2934)GGT>TGT		1A6/DRIM (down-regulated in metastasis)							22.0	23.0	22.0					9																	138379288		2067	4052	6119	SO:0001583	missense	9858					nucleolus	protein binding	g.chr9:138379288G>T	AB014549	CCDS6988.1	9q34.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000196422	ENSG00000196422		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29089	protein-coding gene	gene with protein product	"""DRIM/UTP20 interacting protein"", ""1A6/DRIM (down-regulated in metastasis) interacting protein"""	614056	"""KIAA0649"""	KIAA0649		9734811, 16053918	Standard	NM_014811		Approved		uc004cfr.1	Q5T8A7	OTTHUMG00000020904	ENST00000356818.2:c.2932G>T	9.37:g.138379288G>T	ENSP00000349274:p.Gly978Cys						p.G978C	NM_014811	NP_055626	Q5T8A7	K0649_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.91e-08)|Epithelial(140;4.69e-07)|all cancers(34;9.33e-06)	4	3481	+			978					Q86WU0|Q8WVV0|Q9Y4D3	Missense_Mutation	SNP	ENST00000356818.2	37	c.2932G>T	CCDS6988.1	.	.	.	.	.	.	.	.	.	.	G	18.65	3.669628	0.67814	.	.	ENSG00000196422	ENST00000356818	T	0.12569	2.67	4.57	2.27	0.28462	.	0.435914	0.21652	N	0.071166	T	0.26048	0.0635	L	0.58101	1.795	0.09310	N	1	D	0.89917	1.0	D	0.70016	0.967	T	0.02333	-1.1175	10	0.87932	D	0	-16.0735	5.0988	0.14749	0.3083:0.0:0.6917:0.0	.	978	Q5T8A7	PPR26_HUMAN	C	978	ENSP00000349274:G978C	ENSP00000349274:G978C	G	+	1	0	KIAA0649	137519109	0.011000	0.17503	0.002000	0.10522	0.668000	0.39293	0.872000	0.28037	1.037000	0.40024	0.462000	0.41574	GGT		PASS	0.632	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054987.1	NM_014811		7	32	7	32	---	---	---	---
QSOX2	169714	broad.mit.edu	37	9	139100587	139100587	+	Missense_Mutation	SNP	T	T	G			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr9:139100587T>G	ENST00000358701.5	-	12	2121	c.2084A>C	c.(2083-2085)cAc>cCc	p.H695P		NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2	695					cell redox homeostasis (GO:0045454)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	thiol oxidase activity (GO:0016972)	p.H695P(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		CACGGCCGGGTGGTGGTGCTT	0.602																																						uc010nbi.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2083-2085)CAC>CCC		quiescin Q6 sulfhydryl oxidase 2 precursor							66.0	54.0	58.0					9																	139100587		2203	4300	6503	SO:0001583	missense	169714				cell redox homeostasis	extracellular region|integral to membrane|nuclear membrane|plasma membrane	thiol oxidase activity	g.chr9:139100587T>G	AJ318051	CCDS35178.1	9q34.3	2008-02-05	2007-04-23	2007-04-23	ENSG00000165661	ENSG00000165661			30249	protein-coding gene	gene with protein product		612860	"""quiescin Q6-like 1"""	QSCN6L1		12176051	Standard	NM_181701		Approved	SOXN, DKFZp762A2013	uc010nbi.2	Q6ZRP7	OTTHUMG00000020923	ENST00000358701.5:c.2084A>C	9.37:g.139100587T>G	ENSP00000351536:p.His695Pro						p.H695P	NM_181701	NP_859052	Q6ZRP7	QSOX2_HUMAN		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)	12	2122	-		Myeloproliferative disorder(178;0.0511)	695					A2CEE0|A6NLB0|Q5TB37|Q7Z7B6|Q86VV7|Q8N3G2	Missense_Mutation	SNP	ENST00000358701.5	37	c.2084A>C	CCDS35178.1	.	.	.	.	.	.	.	.	.	.	T	14.27	2.484629	0.44147	.	.	ENSG00000165661	ENST00000358701	T	0.05319	3.46	5.09	-5.53	0.02552	.	0.562899	0.17589	N	0.168823	T	0.04407	0.0121	L	0.36672	1.1	0.09310	N	1	P	0.38335	0.627	B	0.37650	0.255	T	0.18777	-1.0326	10	0.49607	T	0.09	-5.8304	7.8634	0.29522	0.0:0.4012:0.4498:0.149	.	695	Q6ZRP7	QSOX2_HUMAN	P	695	ENSP00000351536:H695P	ENSP00000351536:H695P	H	-	2	0	QSOX2	138240408	0.909000	0.30893	0.001000	0.08648	0.074000	0.17049	1.662000	0.37418	-0.795000	0.04462	0.456000	0.33151	CAC		PASS	0.602	QSOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055046.2	NM_181701		4	41	4	41	---	---	---	---
ABCA2	20	broad.mit.edu	37	9	139912284	139912285	+	Missense_Mutation	DNP	CA	CA	AT			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr9:139912284_139912285CA>AT	ENST00000371605.3	-	15	2309_2310	c.2162_2163TG>AT	c.(2161-2163)aTG>aAT	p.M721N	ABCA2_ENST00000265662.5_Missense_Mutation_p.M722N|ABCA2_ENST00000341511.6_Missense_Mutation_p.M722N|ABCA2_ENST00000492260.1_5'Flank			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	721					ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)	p.M722N(1)|p.M722I(1)|p.M722K(1)		central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GCTGGATGGTCATGGCCACGGA	0.673																																						uc011mem.1																			3	Substitution - Missense(3)		lung(3)		0						c.(2161-2163)ATG>ATT|c.(2161-2163)ATG>AAG		ATP-binding cassette, sub-family A, member 2																																				SO:0001583	missense	20				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr9:139912284C>A|g.chr9:139912285A>T	U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"""ATP binding cassette transporters / subfamily A"""	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.2162_2163delinsAT	9.37:g.139912284_139912285delinsAT	ENSP00000360666:p.Met721Asn					ABCA2_uc011mel.1_Missense_Mutation_p.M722I|ABCA2_uc004ckl.1_Missense_Mutation_p.M652I|ABCA2_uc004ckm.1_Missense_Mutation_p.M752I|ABCA2_uc004ckn.1_RNA|ABCA2_uc011mel.1_Missense_Mutation_p.M722K|ABCA2_uc004ckl.1_Missense_Mutation_p.M652K|ABCA2_uc004ckm.1_Missense_Mutation_p.M752K|ABCA2_uc004ckn.1_RNA	p.M721I|p.M721K	NM_001606	NP_001597	Q9BZC7	ABCA2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	15	2311|2310	-	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	721					A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Missense_Mutation	SNP	ENST00000371605.3	37	c.2163G>T|c.2162T>A																																																																																					PASS	0.673	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		NM_001606		4	15	4	15	---	---	---	---
GAD2	2572	broad.mit.edu	37	10	26506596	26506596	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr10:26506596G>T	ENST00000376261.3	+	2	637	c.134G>T	c.(133-135)tGc>tTc	p.C45F	GAD2_ENST00000259271.3_Missense_Mutation_p.C45F|GAD2_ENST00000376248.1_5'Flank	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	45					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.C45F(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						AACAAACTGTGCGGTGAGTGC	0.642																																						uc001isp.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(133-135)TGC>TTC		glutamate decarboxylase 2	L-Glutamic Acid(DB00142)						45.0	38.0	40.0					10																	26506596		2203	4300	6503	SO:0001583	missense	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.chr10:26506596G>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.134G>T	10.37:g.26506596G>T	ENSP00000365437:p.Cys45Phe					GAD2_uc009xkr.2_Missense_Mutation_p.C45F|GAD2_uc001isq.2_Missense_Mutation_p.C45F	p.C45F	NM_001134366	NP_001127838	Q05329	DCE2_HUMAN			2	637	+			45					Q9UD87	Missense_Mutation	SNP	ENST00000376261.3	37	c.134G>T	CCDS7149.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.697475	0.88830	.	.	ENSG00000136750	ENST00000376261;ENST00000259271;ENST00000428517	T;T;T	0.60171	0.21;0.21;0.21	5.7	5.7	0.88788	.	0.098210	0.64402	D	0.000001	T	0.77651	0.4162	M	0.76328	2.33	0.80722	D	1	P;D	0.76494	0.937;0.999	P;D	0.85130	0.777;0.997	T	0.79140	-0.1926	10	0.87932	D	0	-11.8776	19.4481	0.94855	0.0:0.0:1.0:0.0	.	45;45	Q4G154;Q05329	.;DCE2_HUMAN	F	45	ENSP00000365437:C45F;ENSP00000259271:C45F;ENSP00000390434:C45F	ENSP00000259271:C45F	C	+	2	0	GAD2	26546602	1.000000	0.71417	1.000000	0.80357	0.598000	0.36846	7.760000	0.85248	2.711000	0.92665	0.561000	0.74099	TGC		PASS	0.642	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047255.1	NM_000818		5	14	5	14	---	---	---	---
CHAT	1103	broad.mit.edu	37	10	50870714	50870714	+	Silent	SNP	C	C	T			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr10:50870714C>T	ENST00000337653.2	+	14	2016	c.1863C>T	c.(1861-1863)gaC>gaT	p.D621D	CHAT_ENST00000339797.1_Silent_p.D503D|CHAT_ENST00000395562.2_Silent_p.D539D|CHAT_ENST00000351556.3_Silent_p.D503D|CHAT_ENST00000395559.2_Silent_p.D503D|CHAT_ENST00000455728.2_Silent_p.D503D	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	621					adult walking behavior (GO:0007628)|dendrite development (GO:0016358)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|rhythmic behavior (GO:0007622)|rhythmic excitation (GO:0043179)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	choline O-acetyltransferase activity (GO:0004102)	p.D621D(1)		central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)|Nicotine(DB00184)	TGGCCATTGACAACCACCTGC	0.567																																						uc001jhz.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(3)	3						c.(1861-1863)GAC>GAT		choline acetyltransferase isoform 2	Choline(DB00122)						111.0	108.0	109.0					10																	50870714		2203	4300	6503	SO:0001819	synonymous_variant	1103				neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	g.chr10:50870714C>T	AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	2.3.1.6		1912	protein-coding gene	gene with protein product		118490	"""choline acetyltransferase"""			1840566	Standard	NM_020984		Approved		uc001jhz.2	P28329	OTTHUMG00000018198	ENST00000337653.2:c.1863C>T	10.37:g.50870714C>T						CHAT_uc001jhv.1_Silent_p.D503D|CHAT_uc001jhx.1_Silent_p.D503D|CHAT_uc001jhy.1_Silent_p.D503D|CHAT_uc001jia.2_Silent_p.D503D|CHAT_uc010qgs.1_Silent_p.D503D	p.D621D	NM_020549	NP_065574	P28329	CLAT_HUMAN		GBM - Glioblastoma multiforme(2;0.000585)	14	2016	+		all_neural(218;0.107)	621					A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Silent	SNP	ENST00000337653.2	37	c.1863C>T	CCDS7232.1																																																																																				PASS	0.567	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047997.1	NM_020549		14	55	14	55	---	---	---	---
SORCS1	114815	broad.mit.edu	37	10	108431020	108431020	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr10:108431020C>A	ENST00000263054.6	-	16	2171	c.2164G>T	c.(2164-2166)Gtc>Ttc	p.V722F	SORCS1_ENST00000369698.1_Missense_Mutation_p.V257F|SORCS1_ENST00000344440.6_Missense_Mutation_p.V722F	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	722					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)	p.V722F(2)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TCAGTGCAGACACAGGGTTCA	0.423																																						uc001kym.2																			2	Substitution - Missense(2)		lung(2)	breast(1)|central_nervous_system(1)	2						c.(2164-2166)GTC>TTC		SORCS receptor 1 isoform a							218.0	187.0	198.0					10																	108431020		2203	4300	6503	SO:0001583	missense	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108431020C>A	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.2164G>T	10.37:g.108431020C>A	ENSP00000263054:p.Val722Phe					SORCS1_uc001kyl.2_Missense_Mutation_p.V722F|SORCS1_uc009xxs.2_Missense_Mutation_p.V722F|SORCS1_uc001kyn.1_Missense_Mutation_p.V722F|SORCS1_uc001kyo.2_Missense_Mutation_p.V722F	p.V722F	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	16	2172	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	722			Lumenal (Potential).		A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	c.2164G>T	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	C	18.06	3.540225	0.65085	.	.	ENSG00000108018	ENST00000369698;ENST00000263054;ENST00000344440	T;T;T	0.22539	1.95;2.52;2.52	5.45	4.54	0.55810	VPS10 (1);	0.302116	0.32518	N	0.005998	T	0.37183	0.0994	L	0.54323	1.7	0.40808	D	0.98339	P;P;P;P;P	0.49559	0.877;0.925;0.925;0.877;0.925	P;P;P;P;P	0.57548	0.67;0.755;0.823;0.67;0.823	T	0.12477	-1.0546	9	.	.	.	-11.9921	16.5542	0.84481	0.0:0.8693:0.1307:0.0	.	722;722;722;722;722	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	F	257;722;722	ENSP00000358712:V257F;ENSP00000263054:V722F;ENSP00000345964:V722F	.	V	-	1	0	SORCS1	108421010	0.033000	0.19621	1.000000	0.80357	0.961000	0.63080	0.494000	0.22467	1.423000	0.47198	-0.176000	0.13171	GTC		PASS	0.423	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		8	46	8	46	---	---	---	---
ACSL5	51703	broad.mit.edu	37	10	114187011	114187011	+	Silent	SNP	C	C	T			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr10:114187011C>T	ENST00000393081.1	+	21	2254	c.1947C>T	c.(1945-1947)tcC>tcT	p.S649S	ACSL5_ENST00000433418.1_Silent_p.S625S|ACSL5_ENST00000354655.4_Silent_p.S649S|ACSL5_ENST00000356116.1_Silent_p.S705S|ACSL5_ENST00000369410.3_Silent_p.S431S|ACSL5_ENST00000354273.4_Silent_p.S649S	NM_203380.1	NP_976314.1	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	649					cellular lipid metabolic process (GO:0044255)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)	p.S705S(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		AGCCATTTTCCATTGAAAATG	0.458																																						uc001kzs.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(2)|skin(1)	3						c.(1945-1947)TCC>TCT		acyl-CoA synthetase long-chain family member 5							104.0	100.0	102.0					10																	114187011		2203	4300	6503	SO:0001819	synonymous_variant	51703				fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chr10:114187011C>T	AB033899	CCDS7572.1, CCDS7573.1	10q25.1-q25.2	2004-06-21	2004-02-19	2004-02-20	ENSG00000197142	ENSG00000197142		"""Acyl-CoA synthetase family"""	16526	protein-coding gene	gene with protein product	"""FACL5 for fatty acid coenzyme A ligase 5"", ""long-chain acyl-CoA synthetase 5"", ""long-chain fatty acid coenzyme A ligase 5"", ""fatty-acid-Coenzyme A ligase, long-chain 5"""	605677	"""fatty-acid-Coenzyme A ligase, long-chain 5"""	FACL5		11127823	Standard	NM_016234		Approved	ACS5, ACS2	uc001kzu.3	Q9ULC5	OTTHUMG00000019060	ENST00000393081.1:c.1947C>T	10.37:g.114187011C>T						ACSL5_uc001kzt.2_Silent_p.S649S|ACSL5_uc001kzu.2_Silent_p.S705S|ACSL5_uc009xxz.2_Silent_p.S625S|ACSL5_uc010qrj.1_Silent_p.S431S	p.S649S	NM_203379	NP_976313	Q9ULC5	ACSL5_HUMAN		Epithelial(162;0.0343)|all cancers(201;0.137)	21	2088	+		Colorectal(252;0.117)|Breast(234;0.222)	649			Cytoplasmic (Potential).		A6GV77|D3DRB3|Q6UX44|Q9UIU4	Silent	SNP	ENST00000393081.1	37	c.1947C>T	CCDS7573.1																																																																																				PASS	0.458	ACSL5-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050386.1	NM_016234		11	68	11	68	---	---	---	---
PNLIPRP3	119548	broad.mit.edu	37	10	118231330	118231330	+	Missense_Mutation	SNP	G	G	C			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr10:118231330G>C	ENST00000369230.3	+	10	1257	c.1111G>C	c.(1111-1113)Gga>Cga	p.G371R		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	371	PLAT.				lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	triglyceride lipase activity (GO:0004806)	p.G371R(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		AGTCACTCAAGGAACTGTCTT	0.463																																						uc001lcl.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1111-1113)GGA>CGA		pancreatic lipase-related protein 3 precursor							188.0	196.0	193.0					10																	118231330		2203	4300	6503	SO:0001583	missense	119548				lipid catabolic process	extracellular region	triglyceride lipase activity	g.chr10:118231330G>C	BC015840	CCDS31292.1	10q26.12	2014-03-14			ENSG00000203837	ENSG00000203837	3.1.1.3		23492	protein-coding gene	gene with protein product							Standard	NM_001011709		Approved		uc001lcl.4	Q17RR3	OTTHUMG00000019100	ENST00000369230.3:c.1111G>C	10.37:g.118231330G>C	ENSP00000358232:p.Gly371Arg						p.G371R	NM_001011709	NP_001011709	Q17RR3	LIPR3_HUMAN		all cancers(201;0.0131)	10	1212	+			371			PLAT.			Missense_Mutation	SNP	ENST00000369230.3	37	c.1111G>C	CCDS31292.1	.	.	.	.	.	.	.	.	.	.	G	15.16	2.751177	0.49257	.	.	ENSG00000203837	ENST00000369230	T	0.71698	-0.59	4.18	3.27	0.37495	Lipoxygenase, LH2 (2);Lipase/lipooxygenase, PLAT/LH2 (1);	0.320332	0.20368	N	0.093708	D	0.82921	0.5142	M	0.82517	2.595	0.20489	N	0.999894	D	0.89917	1.0	D	0.97110	1.0	T	0.72918	-0.4146	10	0.87932	D	0	.	9.7109	0.40245	0.102:0.0:0.898:0.0	.	371	Q17RR3	LIPR3_HUMAN	R	371	ENSP00000358232:G371R	ENSP00000358232:G371R	G	+	1	0	PNLIPRP3	118221320	0.904000	0.30761	0.034000	0.17996	0.013000	0.08279	4.017000	0.57167	1.067000	0.40740	0.591000	0.81541	GGA		PASS	0.463	PNLIPRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050520.1	XM_058404		11	85	11	85	---	---	---	---
KIAA1598	57698	broad.mit.edu	37	10	118728205	118728205	+	Missense_Mutation	SNP	C	C	T			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr10:118728205C>T	ENST00000355371.4	-	3	627	c.130G>A	c.(130-132)Gaa>Aaa	p.E44K	KIAA1598_ENST00000260777.10_Missense_Mutation_p.E44K|KIAA1598_ENST00000392903.2_Missense_Mutation_p.E44K|KIAA1598_ENST00000497044.1_5'UTR|KIAA1598_ENST00000392901.4_5'UTR	NM_001127211.2|NM_001258298.1|NM_001258299.1	NP_001120683.1|NP_001245227.1|NP_001245228.1	A0MZ66	SHOT1_HUMAN	KIAA1598	44					axon guidance (GO:0007411)|regulation of establishment of cell polarity (GO:2000114)|regulation of neuron migration (GO:2001222)	axonal growth cone (GO:0044295)		p.E44K(2)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10				all cancers(201;0.00494)		TCATCTCGTTCTTGCCTAATT	0.313																																						uc009xyw.2																			2	Substitution - Missense(2)		lung(2)		0						c.(130-132)GAA>AAA		shootin1 isoform a							118.0	106.0	110.0					10																	118728205		2201	4298	6499	SO:0001583	missense	57698				axon guidance	axon		g.chr10:118728205C>T	BC022348	CCDS31293.1, CCDS44482.1, CCDS58097.1, CCDS73207.1, CCDS73208.1	10q26.12	2007-01-30			ENSG00000187164	ENSG00000187164			29319	protein-coding gene	gene with protein product		611171				10997877, 17030985	Standard	NM_001127211		Approved	shootin1, shootin-1	uc009xyw.4	A0MZ66	OTTHUMG00000019114	ENST00000355371.4:c.130G>A	10.37:g.118728205C>T	ENSP00000347532:p.Glu44Lys					KIAA1598_uc001lcz.3_Missense_Mutation_p.E44K|KIAA1598_uc010qso.1_5'UTR|KIAA1598_uc010qsp.1_Missense_Mutation_p.E44K|KIAA1598_uc010qsq.1_5'UTR|KIAA1598_uc001lcy.3_Missense_Mutation_p.E14K	p.E44K	NM_001127211	NP_001120683	A0MZ66	SHOT1_HUMAN		all cancers(201;0.00494)	3	628	-			44			Potential.		A8MYU7|B3KRD3|B3KRH2|B3KTE0|B3KTJ7|B3KTJ8|B4E3U1|B7Z7Z9|Q68DG1|Q6PIM5|Q9HCH4|Q9NUV0	Missense_Mutation	SNP	ENST00000355371.4	37	c.130G>A	CCDS44482.1	.	.	.	.	.	.	.	.	.	.	C	32	5.171092	0.94807	.	.	ENSG00000187164	ENST00000392903;ENST00000260777;ENST00000355371	D;D;D	0.91577	-2.87;-2.87;-2.87	5.64	5.64	0.86602	.	0.090457	0.85682	D	0.000000	D	0.91676	0.7369	N	0.24115	0.695	0.80722	D	1	D;D;D	0.71674	0.998;0.996;0.998	D;D;D	0.80764	0.991;0.987;0.994	D	0.88744	0.3245	10	0.20046	T	0.44	-20.3946	20.0769	0.97748	0.0:1.0:0.0:0.0	.	44;44;14	A0MZ66;A0MZ66-2;A0MZ66-6	SHOT1_HUMAN;.;.	K	44	ENSP00000376636:E44K;ENSP00000260777:E44K;ENSP00000347532:E44K	ENSP00000260777:E44K	E	-	1	0	KIAA1598	118718195	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.757000	0.68766	2.820000	0.97059	0.650000	0.86243	GAA		PASS	0.313	KIAA1598-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018330		5	16	5	16	---	---	---	---
NUP98	4928	broad.mit.edu	37	11	3724058	3724058	+	Silent	SNP	T	T	C			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr11:3724058T>C	ENST00000324932.7	-	23	3567	c.3147A>G	c.(3145-3147)caA>caG	p.Q1049Q	NUP98_ENST00000355260.3_Silent_p.Q1049Q|NUP98_ENST00000359171.4_Silent_p.Q1049Q	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1066					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore organization (GO:0006999)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)	p.Q1049Q(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		TACGACATTCTTGCACAGAGA	0.458			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML																																	uc001lyh.2				Dom	yes		11	11p15	4928	T	nucleoporin 98kDa			L	HOXA9|NSD1|WHSC1L1|DDX10|TOP1|HOXD13|PMX1|HOXA13|HOXD11|HOXA11|RAP1GDS1|HOXC11		AML		1	Substitution - coding silent(1)		lung(1)	breast(4)|skin(3)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1)	12						c.(3145-3147)CAA>CAG		nucleoporin 98kD isoform 1							78.0	71.0	73.0					11																	3724058		2201	4298	6499	SO:0001819	synonymous_variant	4928				carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity	g.chr11:3724058T>C	AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"""nucleoporin 98kD"""			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.3147A>G	11.37:g.3724058T>C						NUP98_uc001lyi.2_Silent_p.Q1049Q|NUP98_uc001lyg.2_Silent_p.Q117Q	p.Q1049Q	NM_016320	NP_057404	P52948	NUP98_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)	23	3438	-		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	1066					Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Silent	SNP	ENST00000324932.7	37	c.3147A>G	CCDS7746.1	.	.	.	.	.	.	.	.	.	.	T	9.189	1.025480	0.19512	.	.	ENSG00000110713	ENST00000429801	.	.	.	5.29	5.29	0.74685	.	.	.	.	.	T	0.68723	0.3032	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68066	-0.5507	4	.	.	.	-9.652	13.2053	0.59793	0.0:0.0:0.0:1.0	.	.	.	.	G	105	.	.	R	-	1	2	NUP98	3680634	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	0.891000	0.28309	1.993000	0.58246	0.533000	0.62120	AGA		PASS	0.458	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032766.3	NM_016320		4	37	4	37	---	---	---	---
OR52E8	390079	broad.mit.edu	37	11	5878401	5878401	+	Missense_Mutation	SNP	G	G	C			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr11:5878401G>C	ENST00000537935.1	-	1	563	c.532C>G	c.(532-534)Cgt>Ggt	p.R178G	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	178						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R178G(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGATGATACGATGCCCACAG	0.502																																						uc010qzr.1																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(532-534)CGT>GGT		olfactory receptor, family 52, subfamily E,							112.0	119.0	117.0					11																	5878401		2148	4296	6444	SO:0001583	missense	390079				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5878401G>C	BK004301	CCDS31400.1	11p15.4	2012-08-09	2003-12-15		ENSG00000183269	ENSG00000183269		"""GPCR / Class A : Olfactory receptors"""	15217	protein-coding gene	gene with protein product			"""olfactory receptor, family 52, subfamily E, member 8 pseudogene"""				Standard	NM_001005168		Approved		uc010qzr.2	Q6IFG1	OTTHUMG00000168803	ENST00000537935.1:c.532C>G	11.37:g.5878401G>C	ENSP00000444054:p.Arg178Gly					TRIM5_uc001mbq.1_Intron	p.R178G	NM_001005168	NP_001005168	Q6IFG1	O52E8_HUMAN		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	532	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)	178			Extracellular (Potential).		B9EH38	Missense_Mutation	SNP	ENST00000537935.1	37	c.532C>G	CCDS31400.1	.	.	.	.	.	.	.	.	.	.	G	2.115	-0.402738	0.04865	.	.	ENSG00000183269	ENST00000537935	T	0.00115	8.71	4.35	1.33	0.21861	GPCR, rhodopsin-like superfamily (1);	1.147300	0.06461	N	0.729425	T	0.00178	0.0005	L	0.47078	1.49	0.09310	N	1	B	0.24533	0.105	B	0.30179	0.112	T	0.30387	-0.9980	10	0.59425	D	0.04	.	5.0856	0.14680	0.1679:0.0:0.5463:0.2858	.	178	Q6IFG1	O52E8_HUMAN	G	178	ENSP00000444054:R178G	ENSP00000444054:R178G	R	-	1	0	OR52E8	5834977	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-0.835000	0.04386	0.186000	0.20125	-0.236000	0.12185	CGT		PASS	0.502	OR52E8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401145.1	NM_001005168		6	100	6	100	---	---	---	---
ARFIP2	23647	broad.mit.edu	37	11	6499300	6499300	+	Silent	SNP	G	G	T			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr11:6499300G>T	ENST00000254584.2	-	6	749	c.666C>A	c.(664-666)ctC>ctA	p.L222L	ARFIP2_ENST00000423813.2_Silent_p.L184L|ARFIP2_ENST00000445086.2_Silent_p.L137L|ARFIP2_ENST00000396777.3_Silent_p.L222L	NM_012402.3	NP_036534.1	P53365	ARFP2_HUMAN	ADP-ribosylation factor interacting protein 2	222	AH. {ECO:0000255|PROSITE- ProRule:PRU00294}.				actin cytoskeleton organization (GO:0030036)|cellular component movement (GO:0006928)|lamellipodium assembly (GO:0030032)|ruffle organization (GO:0031529)|small GTPase mediated signal transduction (GO:0007264)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|Rac GTPase binding (GO:0048365)	p.L222L(1)		endometrium(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(2)	15		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;3.41e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TCACAGTCATGAGCGTGTCTT	0.512																																					Melanoma(119;796 1674 9049 20480 24794)	uc001mdk.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(664-666)CTC>CTA		ADP-ribosylation factor interacting protein 2							142.0	124.0	130.0					11																	6499300		2201	4296	6497	SO:0001819	synonymous_variant	23647				actin cytoskeleton organization|cellular component movement|lamellipodium assembly|ruffle organization|small GTPase mediated signal transduction	cell cortex|plasma membrane|ruffle	GTP binding|GTP-dependent protein binding|Rac GTPase binding	g.chr11:6499300G>T	BC000392	CCDS7765.1, CCDS55739.1, CCDS55740.1, CCDS73250.1	11p15	2008-08-01	2008-08-01		ENSG00000132254	ENSG00000132254			17160	protein-coding gene	gene with protein product	"""arfaptin 2"""	601638				8670882, 9038142	Standard	NM_012402		Approved	POR1	uc010ran.2	P53365	OTTHUMG00000133406	ENST00000254584.2:c.666C>A	11.37:g.6499300G>T						ARFIP2_uc001mdl.2_Silent_p.L222L|ARFIP2_uc010ral.1_Silent_p.L184L|ARFIP2_uc010ram.1_Silent_p.L128L|ARFIP2_uc010ran.1_Silent_p.L255L|ARFIP2_uc001mdm.2_RNA	p.L222L	NM_012402	NP_036534	P53365	ARFP2_HUMAN		Epithelial(150;3.41e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	6	803	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	222			AH.		B4DX86|B4E306|D3DQT5	Silent	SNP	ENST00000254584.2	37	c.666C>A	CCDS7765.1																																																																																				PASS	0.512	ARFIP2-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387044.1	NM_012402		4	52	4	52	---	---	---	---
OR5D18	219438	broad.mit.edu	37	11	55587763	55587763	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr11:55587763G>T	ENST00000333976.4	+	1	678	c.658G>T	c.(658-660)Gcg>Tcg	p.A220S		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	220						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A220S(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				CACATCTTATGCGTTCATTGT	0.483																																						uc010rin.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(658-660)GCG>TCG		olfactory receptor, family 5, subfamily D,							188.0	154.0	166.0					11																	55587763		2200	4296	6496	SO:0001583	missense	219438				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55587763G>T	AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"""GPCR / Class A : Olfactory receptors"""	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.658G>T	11.37:g.55587763G>T	ENSP00000335025:p.Ala220Ser						p.A220S	NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN			1	658	+		all_epithelial(135;0.208)	220			Cytoplasmic (Potential).		Q6IF67|Q6IFD3|Q96RB3	Missense_Mutation	SNP	ENST00000333976.4	37	c.658G>T	CCDS31510.1	.	.	.	.	.	.	.	.	.	.	.	5.104	0.204806	0.09704	.	.	ENSG00000186119	ENST00000333976	T	0.00137	8.68	4.85	0.0638	0.14350	GPCR, rhodopsin-like superfamily (1);	1.024280	0.07845	N	0.963771	T	0.00109	0.0003	L	0.33624	1.015	0.09310	N	1	B	0.14438	0.01	B	0.18561	0.022	T	0.08472	-1.0720	10	0.38643	T	0.18	0.0276	4.0862	0.09948	0.0791:0.1265:0.3606:0.4338	.	220	Q8NGL1	OR5DI_HUMAN	S	220	ENSP00000335025:A220S	ENSP00000335025:A220S	A	+	1	0	OR5D18	55344339	0.000000	0.05858	0.004000	0.12327	0.043000	0.13939	-2.509000	0.00960	0.129000	0.18514	0.567000	0.79289	GCG		PASS	0.483	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1	NM_001001952		15	83	15	83	---	---	---	---
OR5B3	441608	broad.mit.edu	37	11	58170189	58170189	+	Missense_Mutation	SNP	A	A	G			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr11:58170189A>G	ENST00000309403.2	-	1	693	c.694T>C	c.(694-696)Tac>Cac	p.Y232H		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	232						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y232H(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GGCTTCTGGTATACTGAAGCT	0.408																																						uc010rkf.1																			1	Substitution - Missense(1)		lung(1)		0						c.(694-696)TAC>CAC		olfactory receptor, family 5, subfamily B,							73.0	73.0	73.0					11																	58170189		2201	4295	6496	SO:0001583	missense	441608				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58170189A>G	AB065545	CCDS31549.1	11q12.1	2012-08-09			ENSG00000172769	ENSG00000172769		"""GPCR / Class A : Olfactory receptors"""	8324	protein-coding gene	gene with protein product				OR5B13			Standard	NM_001005469		Approved	OST129	uc010rkf.2	Q8NH48	OTTHUMG00000167516	ENST00000309403.2:c.694T>C	11.37:g.58170189A>G	ENSP00000308270:p.Tyr232His						p.Y232H	NM_001005469	NP_001005469	Q8NH48	OR5B3_HUMAN			1	694	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	232			Cytoplasmic (Potential).		Q6IEV6	Missense_Mutation	SNP	ENST00000309403.2	37	c.694T>C	CCDS31549.1	.	.	.	.	.	.	.	.	.	.	a	0.209	-1.038237	0.02013	.	.	ENSG00000172769	ENST00000309403	T	0.00076	8.76	4.05	-4.98	0.03019	GPCR, rhodopsin-like superfamily (1);	1.009650	0.07970	N	0.983837	T	0.00073	0.0002	N	0.04636	-0.2	0.09310	N	1	B	0.11235	0.004	B	0.15484	0.013	T	0.09443	-1.0674	10	0.48119	T	0.1	-7.4186	10.5529	0.45099	0.1505:0.0:0.7296:0.1199	.	232	Q8NH48	OR5B3_HUMAN	H	232	ENSP00000308270:Y232H	ENSP00000308270:Y232H	Y	-	1	0	OR5B3	57926765	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.751000	0.04803	-0.921000	0.03794	-0.417000	0.06048	TAC		PASS	0.408	OR5B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394886.1	NM_001005469		3	40	3	40	---	---	---	---
NDUFV1	4723	broad.mit.edu	37	11	67379895	67379895	+	Missense_Mutation	SNP	C	C	T			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr11:67379895C>T	ENST00000322776.6	+	10	1514	c.1361C>T	c.(1360-1362)gCc>gTc	p.A454V	NDUFV1_ENST00000529927.1_Missense_Mutation_p.A445V|NDUFV1_ENST00000532303.1_Missense_Mutation_p.A353V|NDUFV1_ENST00000415352.2_Missense_Mutation_p.A447V|DOC2GP_ENST00000495263.1_RNA	NM_001166102.1|NM_007103.3	NP_001159574.1|NP_009034.2	P49821	NDUV1_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa	454					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)	p.A454V(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	16						CAGCGGTTTGCCCAGCAGCAT	0.617																																						uc001omj.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1360-1362)GCC>GTC		NADH dehydrogenase ubiquinone flavoprotein 1	NADH(DB00157)						30.0	30.0	30.0					11																	67379895		2200	4294	6494	SO:0001583	missense	4723				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|FMN binding|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity	g.chr11:67379895C>T	AF092131	CCDS8173.1, CCDS53669.1	11q13	2011-07-04	2002-08-29		ENSG00000167792	ENSG00000167792	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7716	protein-coding gene	gene with protein product	"""complex I 51kDa subunit"", ""NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial"""	161015	"""NADH dehydrogenase (ubiquinone) flavoprotein 1 (51kD)"""			1478657	Standard	NM_007103		Approved	CI-51K	uc001omj.2	P49821	OTTHUMG00000166215	ENST00000322776.6:c.1361C>T	11.37:g.67379895C>T	ENSP00000322450:p.Ala454Val					NDUFV1_uc010rpv.1_Missense_Mutation_p.A353V|NDUFV1_uc001oml.2_Missense_Mutation_p.A447V|NDUFV1_uc001omk.3_Missense_Mutation_p.A445V|NDUFV1_uc010rpw.1_Missense_Mutation_p.A163V	p.A454V	NM_007103	NP_009034	P49821	NDUV1_HUMAN			10	1514	+			454					O60924|O60940|Q16104|Q6IBR3|Q96BF8|Q96HS7	Missense_Mutation	SNP	ENST00000322776.6	37	c.1361C>T	CCDS8173.1	.	.	.	.	.	.	.	.	.	.	C	15.72	2.916088	0.52546	.	.	ENSG00000167792	ENST00000322776;ENST00000532303;ENST00000529927;ENST00000415352;ENST00000453836	D;D;D;D	0.91577	-2.41;-2.87;-2.4;-2.4	5.31	4.34	0.51931	.	0.221723	0.41938	D	0.000786	D	0.83959	0.5367	L	0.41961	1.31	0.33421	D	0.579914	P;P;B	0.36354	0.549;0.549;0.414	B;B;B	0.33960	0.173;0.173;0.084	D	0.85154	0.0988	10	0.30854	T	0.27	-19.1539	8.2259	0.31568	0.1756:0.6547:0.1697:0.0	.	447;445;454	G3V0I5;P49821-2;P49821	.;.;NDUV1_HUMAN	V	454;353;445;447;325	ENSP00000322450:A454V;ENSP00000432015:A353V;ENSP00000436766:A445V;ENSP00000395368:A447V	ENSP00000322450:A454V	A	+	2	0	NDUFV1	67136471	0.982000	0.34865	1.000000	0.80357	0.954000	0.61252	1.449000	0.35123	2.466000	0.83321	0.561000	0.74099	GCC		PASS	0.617	NDUFV1-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388406.1	NM_007103		3	29	3	29	---	---	---	---
CCDC89	220388	broad.mit.edu	37	11	85396970	85396970	+	Silent	SNP	G	G	A			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr11:85396970G>A	ENST00000316398.3	-	1	350	c.204C>T	c.(202-204)tcC>tcT	p.S68S		NM_152723.1	NP_689936.1	Q8N998	CCD89_HUMAN	coiled-coil domain containing 89	68						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.S68S(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				CTTCAATGCGGGAGCGAAGCA	0.587																																						uc001pau.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(202-204)TCC>TCT		coiled-coil domain containing 89							71.0	62.0	65.0					11																	85396970		2203	4299	6502	SO:0001819	synonymous_variant	220388					cytoplasm|nucleus		g.chr11:85396970G>A	AK095478	CCDS8270.1	11q14.1	2006-03-16			ENSG00000179071	ENSG00000179071			26762	protein-coding gene	gene with protein product						12477932	Standard	NM_152723		Approved	FLJ38159	uc001pau.1	Q8N998	OTTHUMG00000166976	ENST00000316398.3:c.204C>T	11.37:g.85396970G>A							p.S68S	NM_152723	NP_689936	Q8N998	CCD89_HUMAN			1	351	-		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)	68			Potential.			Silent	SNP	ENST00000316398.3	37	c.204C>T	CCDS8270.1																																																																																				PASS	0.587	CCDC89-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392182.1	NM_152723		3	35	3	35	---	---	---	---
GRIA4	2893	broad.mit.edu	37	11	105845170	105845170	+	Splice_Site	SNP	A	A	T			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr11:105845170A>T	ENST00000530497.1	+	15	2543	c.2543A>T	c.(2542-2544)aAg>aTg	p.K848M	GRIA4_ENST00000533094.1_3'UTR|GRIA4_ENST00000282499.5_Splice_Site_p.K848M|GRIA4_ENST00000525187.1_Missense_Mutation_p.K848M|GRIA4_ENST00000393127.2_Missense_Mutation_p.K848M|RNU6-277P_ENST00000516272.1_RNA			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	848					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.K848M(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		AAGAGAATGAAGGTGGCAAAG	0.473																																						uc001pix.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8						c.(2542-2544)AAG>ATG		glutamate receptor, ionotrophic, AMPA 4 isoform	L-Glutamic Acid(DB00142)						148.0	136.0	140.0					11																	105845170		2201	4299	6500	SO:0001630	splice_region_variant	2893				glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chr11:105845170A>T	U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4574	protein-coding gene	gene with protein product		138246	"""glutamate receptor, ionotrophic, AMPA 4"""	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.2544+1A>T	11.37:g.105845170A>T						GRIA4_uc001piw.2_Missense_Mutation_p.K848M|GRIA4_uc010rvm.1_RNA|GRIA4_uc009yxl.1_RNA	p.K848M	NM_000829	NP_000820	P48058	GRIA4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	16	2989	+		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)	848			Cytoplasmic (Potential).		Q86XE8	Missense_Mutation	SNP	ENST00000530497.1	37	c.2543A>T	CCDS8333.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.515499	0.85389	.	.	ENSG00000152578	ENST00000282499;ENST00000393127;ENST00000530497;ENST00000525187	T;T;T;T	0.15487	2.53;2.42;2.53;2.42	5.83	5.83	0.93111	.	0.000000	0.64402	D	0.000001	T	0.47525	0.1450	M	0.84683	2.71	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.72625	0.95;0.978	T	0.54091	-0.8345	10	0.87932	D	0	.	16.1968	0.82036	1.0:0.0:0.0:0.0	.	848;848	P48058;G3V164	GRIA4_HUMAN;.	M	848	ENSP00000282499:K848M;ENSP00000376835:K848M;ENSP00000435775:K848M;ENSP00000432180:K848M	ENSP00000282499:K848M	K	+	2	0	GRIA4	105350380	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.307000	0.96226	2.225000	0.72522	0.533000	0.62120	AAG		PASS	0.473	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1		Missense_Mutation	6	62	6	62	---	---	---	---
EXPH5	23086	broad.mit.edu	37	11	108383971	108383971	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr11:108383971C>A	ENST00000265843.4	-	6	2373	c.2263G>T	c.(2263-2265)Ggg>Tgg	p.G755W	EXPH5_ENST00000443411.1_Missense_Mutation_p.G567W|EXPH5_ENST00000524840.1_5'Flank|EXPH5_ENST00000428840.1_Missense_Mutation_p.G679W|EXPH5_ENST00000525344.1_Missense_Mutation_p.G748W	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	755					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)	p.G755W(1)		breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		AAACCAAACCCGTTGCTCTTG	0.413																																						uc001pkk.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)	5						c.(2263-2265)GGG>TGG		exophilin 5 isoform a							89.0	97.0	94.0					11																	108383971		2201	4298	6499	SO:0001583	missense	23086				intracellular protein transport		Rab GTPase binding	g.chr11:108383971C>A		CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"""synaptotagmin-like homologue lacking C2 domains b"""	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.2263G>T	11.37:g.108383971C>A	ENSP00000265843:p.Gly755Trp					EXPH5_uc010rvy.1_Missense_Mutation_p.G567W|EXPH5_uc010rvz.1_Missense_Mutation_p.G599W|EXPH5_uc010rwa.1_Missense_Mutation_p.G679W	p.G755W	NM_015065	NP_055880	Q8NEV8	EXPH5_HUMAN		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)	6	2374	-		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)	755					Q2KHM1|Q9Y4D6	Missense_Mutation	SNP	ENST00000265843.4	37	c.2263G>T	CCDS8341.1	.	.	.	.	.	.	.	.	.	.	C	10.93	1.489173	0.26686	.	.	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000443411;ENST00000525344;ENST00000526312;ENST00000533052	T;T;T;T;T;T	0.04119	4.29;4.22;4.07;4.29;4.14;3.7	6.04	-0.422	0.12329	.	0.764540	0.12606	N	0.454260	T	0.06735	0.0172	L	0.36672	1.1	0.09310	N	1	P	0.48230	0.907	P	0.50352	0.638	T	0.30621	-0.9972	10	0.72032	D	0.01	0.0387	6.4793	0.22053	0.0:0.401:0.1514:0.4477	.	755	Q8NEV8	EXPH5_HUMAN	W	755;679;567;748;679;567	ENSP00000265843:G755W;ENSP00000391966:G679W;ENSP00000411390:G567W;ENSP00000432546:G748W;ENSP00000432683:G679W;ENSP00000446434:G567W	ENSP00000265843:G755W	G	-	1	0	EXPH5	107889181	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	0.032000	0.13732	-0.294000	0.08973	-0.339000	0.08088	GGG		PASS	0.413	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		12	85	12	85	---	---	---	---
OR8D2	283160	broad.mit.edu	37	11	124189347	124189347	+	Silent	SNP	G	G	T			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr11:124189347G>T	ENST00000357438.2	-	1	837	c.747C>A	c.(745-747)ggC>ggA	p.G249G		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	249						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G249G(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		CAAAAAAGATGCCCACAGCCA	0.423																																						uc010sah.1																			1	Substitution - coding silent(1)		lung(1)	breast(1)|central_nervous_system(1)|pancreas(1)	3						c.(745-747)GGC>GGA		olfactory receptor, family 8, subfamily D,							109.0	116.0	113.0					11																	124189347		2201	4299	6500	SO:0001819	synonymous_variant	283160				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124189347G>T	AF162668	CCDS31707.1	11q24.1	2012-08-09			ENSG00000197263	ENSG00000197263		"""GPCR / Class A : Olfactory receptors"""	8482	protein-coding gene	gene with protein product							Standard	NM_001002918		Approved		uc010sah.2	Q9GZM6	OTTHUMG00000165978	ENST00000357438.2:c.747C>A	11.37:g.124189347G>T							p.G249G	NM_001002918	NP_001002918	Q9GZM6	OR8D2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)	1	747	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	249			Helical; Name=6; (Potential).		B9EH49|Q6IFR0	Silent	SNP	ENST00000357438.2	37	c.747C>A	CCDS31707.1																																																																																				PASS	0.423	OR8D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387286.1	NM_001002918		7	90	7	90	---	---	---	---
ROBO3	64221	broad.mit.edu	37	11	124743726	124743726	+	Silent	SNP	T	T	A			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr11:124743726T>A	ENST00000397801.1	+	11	1944	c.1752T>A	c.(1750-1752)gcT>gcA	p.A584A	ROBO3_ENST00000538940.1_Silent_p.A562A	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	584	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)		p.A584A(2)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		AAACTGGGGCTGCAGTCACGT	0.527																																						uc001qbc.2																			2	Substitution - coding silent(2)		lung(2)	breast(1)|central_nervous_system(1)	2						c.(1750-1752)GCT>GCA		roundabout, axon guidance receptor, homolog 3							35.0	37.0	36.0					11																	124743726		1885	4117	6002	SO:0001819	synonymous_variant	64221				axon midline choice point recognition	integral to membrane	receptor activity	g.chr11:124743726T>A	AK024697	CCDS44755.1	11q24	2013-02-11	2001-11-28		ENSG00000154134	ENSG00000154134		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13433	protein-coding gene	gene with protein product		608630	"""roundabout (axon guidance receptor, Drosophila) homolog 3"", ""horizontal gaze palsy with progressive scoliosis"""	HGPPS		15105459	Standard	NM_022370		Approved	RBIG1, FLJ21044, HGPS	uc001qbc.3	Q96MS0	OTTHUMG00000165934	ENST00000397801.1:c.1752T>A	11.37:g.124743726T>A							p.A584A	NM_022370	NP_071765	Q96MS0	ROBO3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)	11	1944	+	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)	584			Fibronectin type-III 1.|Extracellular (Potential).			Silent	SNP	ENST00000397801.1	37	c.1752T>A	CCDS44755.1																																																																																				PASS	0.527	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387091.1	XM_370663		3	17	3	17	---	---	---	---
KCNJ1	3758	broad.mit.edu	37	11	128710050	128710050	+	Missense_Mutation	SNP	C	C	T			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr11:128710050C>T	ENST00000392664.2	-	2	262	c.146G>A	c.(145-147)tGc>tAc	p.C49Y	KCNJ1_ENST00000392666.1_Missense_Mutation_p.C30Y|KCNJ1_ENST00000392665.2_Missense_Mutation_p.C30Y|KCNJ1_ENST00000324036.3_Missense_Mutation_p.C30Y|KCNJ1_ENST00000440599.2_Missense_Mutation_p.C30Y	NM_000220.4	NP_000211.1	P48048	KCNJ1_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 1	49					cardiovascular system development (GO:0072358)|excretion (GO:0007588)|kidney development (GO:0001822)|post-embryonic development (GO:0009791)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of G-protein activated inward rectifier potassium channel activity (GO:1900128)|renal sodium ion absorption (GO:0070294)|synaptic transmission (GO:0007268)|tissue homeostasis (GO:0001894)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.C49Y(1)		breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Bethanidine(DB00217)|Glimepiride(DB00222)|Glyburide(DB01016)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Tolazamide(DB00839)|Tolbutamide(DB01124)|Yohimbine(DB01392)	TTCTATGTTGCACCTTCCATC	0.438																																						uc001qeo.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)	4	GRCh37	CM994544	KCNJ1	M		c.(145-147)TGC>TAC		potassium inwardly-rectifying channel J1 isoform	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)						175.0	165.0	168.0					11																	128710050		2201	4297	6498	SO:0001583	missense	3758				excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity	g.chr11:128710050C>T	BC063109	CCDS8476.1, CCDS8477.1	11q24	2011-07-05			ENSG00000151704	ENSG00000151704		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6255	protein-coding gene	gene with protein product		600359				7680431, 8190102, 16382105	Standard	NM_153765		Approved	Kir1.1, ROMK1	uc001qeo.2	P48048	OTTHUMG00000048247	ENST00000392664.2:c.146G>A	11.37:g.128710050C>T	ENSP00000376432:p.Cys49Tyr					KCNJ1_uc001qep.1_Missense_Mutation_p.C30Y|KCNJ1_uc001qeq.1_Missense_Mutation_p.C30Y|KCNJ1_uc001qer.1_Missense_Mutation_p.C30Y|KCNJ1_uc001qes.1_Missense_Mutation_p.C30Y	p.C49Y	NM_000220	NP_000211	P48048	IRK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	2	197	-	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)	49			Cytoplasmic (By similarity).		B2RMR4|Q6LD67	Missense_Mutation	SNP	ENST00000392664.2	37	c.146G>A	CCDS8476.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.400506	0.83120	.	.	ENSG00000151704	ENST00000392665;ENST00000392666;ENST00000440599;ENST00000324036;ENST00000392664;ENST00000324003	D;D;D;D;D;D	0.95482	-3.72;-3.72;-3.72;-3.72;-3.72;-3.72	5.66	5.66	0.87406	Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.000000	0.85682	D	0.000000	D	0.98516	0.9505	H	0.94698	3.57	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99222	1.0879	10	0.87932	D	0	.	19.7495	0.96261	0.0:1.0:0.0:0.0	.	49	P48048	IRK1_HUMAN	Y	30;30;30;30;49;30	ENSP00000376433:C30Y;ENSP00000376434:C30Y;ENSP00000406320:C30Y;ENSP00000316233:C30Y;ENSP00000376432:C49Y;ENSP00000316136:C30Y	ENSP00000316136:C30Y	C	-	2	0	KCNJ1	128215260	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.818000	0.86416	2.685000	0.91497	0.455000	0.32223	TGC		PASS	0.438	KCNJ1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386233.1	NM_000220		12	105	12	105	---	---	---	---
GRIN2B	2904	broad.mit.edu	37	12	14019082	14019082	+	Missense_Mutation	SNP	C	C	A	rs79046967		TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr12:14019082C>A	ENST00000609686.1	-	2	270	c.61G>T	c.(61-63)Gtg>Ttg	p.V21L		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	21					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.V21L(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)	CTGCCTGACACGGCCAGGACG	0.577																																						uc001rbt.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12						c.(61-63)GTG>TTG		N-methyl-D-aspartate receptor subunit 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						45.0	49.0	47.0					12																	14019082		2203	4300	6503	SO:0001583	missense	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:14019082C>A		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.61G>T	12.37:g.14019082C>A	ENSP00000477455:p.Val21Leu						p.V21L	NM_000834	NP_000825	Q13224	NMDE2_HUMAN			2	240	-			21					Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	c.61G>T	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	C	13.95	2.391150	0.42410	.	.	ENSG00000150086	ENST00000279593	T	0.11169	2.8	5.7	5.7	0.88788	.	0.165442	0.40144	N	0.001168	T	0.04497	0.0123	N	0.08118	0	0.23645	N	0.997217	B	0.02656	0.0	B	0.01281	0.0	T	0.44620	-0.9316	10	0.07325	T	0.83	.	7.4662	0.27322	0.0:0.8022:0.0:0.1978	.	21	Q13224	NMDE2_HUMAN	L	21	ENSP00000279593:V21L	ENSP00000279593:V21L	V	-	1	0	GRIN2B	13910349	0.986000	0.35501	0.990000	0.47175	0.938000	0.57974	2.450000	0.44943	2.680000	0.91292	0.563000	0.77884	GTG		PASS	0.577	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			3	15	3	15	---	---	---	---
GUCY2C	2984	broad.mit.edu	37	12	14809478	14809478	+	Missense_Mutation	SNP	C	C	G			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr12:14809478C>G	ENST00000261170.3	-	12	1574	c.1438G>C	c.(1438-1440)Gag>Cag	p.E480Q		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	480					intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)	p.E480Q(1)		breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	TCATTGGTCTCCAGAGGAAAG	0.373																																						uc001rcd.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)	6						c.(1438-1440)GAG>CAG		guanylate cyclase 2C precursor							187.0	183.0	184.0					12																	14809478		2203	4300	6503	SO:0001583	missense	2984				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity	g.chr12:14809478C>G		CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.1438G>C	12.37:g.14809478C>G	ENSP00000261170:p.Glu480Gln						p.E480Q	NM_004963	NP_004954	P25092	GUC2C_HUMAN			12	1575	-			480			Cytoplasmic (Potential).		B2RMY6	Missense_Mutation	SNP	ENST00000261170.3	37	c.1438G>C	CCDS8664.1	.	.	.	.	.	.	.	.	.	.	C	18.50	3.636814	0.67130	.	.	ENSG00000070019	ENST00000261170	D	0.81579	-1.51	5.64	5.64	0.86602	.	0.202632	0.52532	D	0.000079	D	0.86669	0.5988	M	0.74258	2.255	0.46279	D	0.998965	D	0.71674	0.998	D	0.65010	0.931	D	0.83795	0.0233	10	0.22109	T	0.4	.	11.9046	0.52703	0.0:0.9193:0.0:0.0807	.	480	P25092	GUC2C_HUMAN	Q	480	ENSP00000261170:E480Q	ENSP00000261170:E480Q	E	-	1	0	GUCY2C	14700745	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.511000	0.60462	2.658000	0.90341	0.655000	0.94253	GAG		PASS	0.373	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400835.1			7	91	7	91	---	---	---	---
KIF21A	55605	broad.mit.edu	37	12	39734052	39734052	+	Missense_Mutation	SNP	T	T	A			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr12:39734052T>A	ENST00000361418.5	-	16	2240	c.2225A>T	c.(2224-2226)cAt>cTt	p.H742L	KIF21A_ENST00000541463.2_Missense_Mutation_p.H729L|KIF21A_ENST00000395670.3_Missense_Mutation_p.H742L|KIF21A_ENST00000544797.2_Missense_Mutation_p.H729L|KIF21A_ENST00000361961.3_Missense_Mutation_p.H729L			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	742					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.H729L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				CAACCTTGCATGTTCTTTTTG	0.333																																						uc001rly.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)|lung(1)|skin(1)	7						c.(2224-2226)CAT>CTT		kinesin family member 21A							132.0	116.0	121.0					12																	39734052		2203	4298	6501	SO:0001583	missense	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39734052T>A	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.2225A>T	12.37:g.39734052T>A	ENSP00000354878:p.His742Leu					KIF21A_uc001rlw.2_Missense_Mutation_p.H59L|KIF21A_uc001rlx.2_Missense_Mutation_p.H729L|KIF21A_uc001rlz.2_Missense_Mutation_p.H729L|KIF21A_uc010skl.1_Missense_Mutation_p.H729L	p.H742L	NM_017641	NP_060111	Q7Z4S6	KI21A_HUMAN			16	2371	-		Lung NSC(34;0.179)|all_lung(34;0.213)	742					A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Missense_Mutation	SNP	ENST00000361418.5	37	c.2225A>T	CCDS53776.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.3|25.3	4.628555|4.628555	0.87560|0.87560	.|.	.|.	ENSG00000139116|ENSG00000139116	ENST00000361961;ENST00000395670;ENST00000341813;ENST00000544797;ENST00000361418;ENST00000541463|ENST00000552961	T;T;T;T;T|.	0.19806|.	2.12;2.12;2.12;2.12;2.12|.	5.22|5.22	5.22|5.22	0.72569|0.72569	.|.	0.000000|.	0.56097|.	D|.	0.000035|.	T|T	0.77418|0.77418	0.4127|0.4127	M|M	0.82517|0.82517	2.595|2.595	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	0.999;0.999;0.996;0.999;1.0|.	D;D;D;D;D|.	0.87578|.	0.994;0.994;0.943;0.994;0.998|.	T|T	0.79759|0.79759	-0.1668|-0.1668	10|5	0.46703|.	T|.	0.11|.	.|.	15.1155|15.1155	0.72397|0.72397	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	729;729;742;729;742|.	F5H219;F5H0C3;Q7Z4S6;Q7Z4S6-2;Q7Z4S6-3|.	.;.;KI21A_HUMAN;.;.|.	L|L	729;742;742;729;742;729|90	ENSP00000354851:H729L;ENSP00000379029:H742L;ENSP00000445606:H729L;ENSP00000354878:H742L;ENSP00000438075:H729L|.	ENSP00000344501:H742L|.	H|M	-|-	2|1	0|0	KIF21A|KIF21A	38020319|38020319	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.977000|0.977000	0.68977|0.68977	7.751000|7.751000	0.85126|0.85126	1.972000|1.972000	0.57404|0.57404	0.533000|0.533000	0.62120|0.62120	CAT|ATG		PASS	0.333	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		6	45	6	45	---	---	---	---
ANKS1B	56899	broad.mit.edu	37	12	99166848	99166848	+	Missense_Mutation	SNP	T	T	A			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr12:99166848T>A	ENST00000547776.2	-	24	3475	c.3476A>T	c.(3475-3477)tAc>tTc	p.Y1159F	ANKS1B_ENST00000547010.1_Missense_Mutation_p.Y675F|ANKS1B_ENST00000546568.1_Missense_Mutation_p.Y325F|ANKS1B_ENST00000546960.1_Missense_Mutation_p.Y385F|ANKS1B_ENST00000550693.2_Missense_Mutation_p.Y349F|ANKS1B_ENST00000333732.7_Missense_Mutation_p.Y189F|ANKS1B_ENST00000549025.2_Missense_Mutation_p.Y257F|ANKS1B_ENST00000341752.7_Missense_Mutation_p.Y165F|ANKS1B_ENST00000547446.1_Missense_Mutation_p.Y294F|ANKS1B_ENST00000549493.2_Missense_Mutation_p.Y409F|ANKS1B_ENST00000549558.2_Missense_Mutation_p.Y325F|ANKS1B_ENST00000329257.7_Missense_Mutation_p.Y1159F|ANKS1B_ENST00000332712.7_Missense_Mutation_p.Y349F	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	1159	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.					cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)	p.Y409F(1)|p.Y1159F(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		CACATGACAGTAGTGGTGATT	0.443																																						uc001tge.1																			2	Substitution - Missense(2)		lung(2)		0						c.(3475-3477)TAC>TTC		cajalin 2 isoform a							112.0	112.0	112.0					12																	99166848		1904	4137	6041	SO:0001583	missense	56899					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane		g.chr12:99166848T>A	AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.3476A>T	12.37:g.99166848T>A	ENSP00000449629:p.Tyr1159Phe					ANKS1B_uc001tgf.1_Missense_Mutation_p.Y675F|ANKS1B_uc001tgk.2_Missense_Mutation_p.Y456F|ANKS1B_uc010svd.1_Missense_Mutation_p.Y165F|ANKS1B_uc001tgd.1_Missense_Mutation_p.Y325F|ANKS1B_uc009ztq.2_Missense_Mutation_p.Y61F|ANKS1B_uc010sve.1_Missense_Mutation_p.Y189F|ANKS1B_uc001tgh.3_Missense_Mutation_p.Y165F|ANKS1B_uc001tgi.2_Missense_Mutation_p.Y409F|ANKS1B_uc009ztr.2_Missense_Mutation_p.Y349F|ANKS1B_uc001tgj.2_Missense_Mutation_p.Y325F|ANKS1B_uc009ztp.2_Missense_Mutation_p.Y190F|ANKS1B_uc010svf.1_Missense_Mutation_p.Y189F|ANKS1B_uc001tgg.3_Missense_Mutation_p.Y257F|ANKS1B_uc010svg.1_Missense_Mutation_p.Y294F|ANKS1B_uc009zts.1_Missense_Mutation_p.Y385F	p.Y1159F	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)	24	3893	-		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)	1159			PID.		A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Missense_Mutation	SNP	ENST00000547776.2	37	c.3476A>T	CCDS55872.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.8|22.8	4.337515|4.337515	0.81911|0.81911	.|.	.|.	ENSG00000185046|ENSG00000185046	ENST00000550778|ENST00000341752;ENST00000549558;ENST00000547776;ENST00000547010;ENST00000329257;ENST00000538702;ENST00000550693;ENST00000549025;ENST00000549493;ENST00000547446;ENST00000333732;ENST00000546568;ENST00000332712;ENST00000407362;ENST00000546960	.|T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.13901	.|2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55	5.66|5.66	5.66|5.66	0.87406|0.87406	.|Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	.|0.000000	.|0.64402	.|D	.|0.000007	T|T	0.25717|0.25717	0.0626|0.0626	N|N	0.25957|0.25957	0.775|0.775	0.58432|0.58432	D|D	0.999995|0.999995	.|D;D;D;B;D;D;P;B;D;B;P;D;B	.|0.76494	.|0.998;0.993;0.995;0.421;0.999;0.995;0.627;0.289;0.993;0.34;0.854;0.999;0.087	.|D;D;D;B;D;D;B;B;D;B;P;D;B	.|0.80764	.|0.987;0.99;0.994;0.399;0.994;0.994;0.399;0.174;0.99;0.315;0.704;0.992;0.174	T|T	0.01951|0.01951	-1.1241|-1.1241	5|10	.|0.46703	.|T	.|0.11	-7.8831|-7.8831	15.8881|15.8881	0.79269|0.79269	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|294;189;189;385;349;299;373;325;409;257;675;1159;325	.|F8VPM3;F8VR14;B7Z9I9;Q7Z6G8-4;Q7Z6G8-5;B1VKB5;F8VQW6;Q7Z6G8-2;Q7Z6G8-3;F8VZR9;Q7Z6G8-6;Q7Z6G8;Q7Z6G8-7	.|.;.;.;.;.;.;.;.;.;.;.;ANS1B_HUMAN;.	S|F	431|165;325;1159;675;1159;674;349;257;409;294;189;325;349;250;385	.|ENSP00000345510:Y165F;ENSP00000448993:Y325F;ENSP00000449629:Y1159F;ENSP00000448512:Y675F;ENSP00000331381:Y1159F;ENSP00000447999:Y349F;ENSP00000447312:Y257F;ENSP00000448203:Y409F;ENSP00000450015:Y294F;ENSP00000331256:Y189F;ENSP00000448205:Y325F;ENSP00000332683:Y349F;ENSP00000447839:Y385F	.|ENSP00000331381:Y1159F	T|Y	-|-	1|2	0|0	ANKS1B|ANKS1B	97690979|97690979	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	8.036000|8.036000	0.88901|0.88901	2.161000|2.161000	0.67846|0.67846	0.454000|0.454000	0.30748|0.30748	ACT|TAC		PASS	0.443	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000408421.3	NM_020140		4	24	4	24	---	---	---	---
NT5DC3	51559	broad.mit.edu	37	12	104187249	104187249	+	Missense_Mutation	SNP	C	C	T			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr12:104187249C>T	ENST00000392876.3	-	8	896	c.856G>A	c.(856-858)Gcc>Acc	p.A286T		NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	286						cytosol (GO:0005829)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.A211T(1)|p.A286T(1)		NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						GCCAGTTTGGCCAACACTGCG	0.443																																						uc010swe.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(856-858)GCC>ACC		5'-nucleotidase domain containing 3							104.0	94.0	98.0					12																	104187249		2203	4300	6503	SO:0001583	missense	51559						hydrolase activity|metal ion binding	g.chr12:104187249C>T	AB032786	CCDS41824.1	12q22-q23.1	2006-02-03			ENSG00000111696	ENSG00000111696			30826	protein-coding gene	gene with protein product		611076					Standard	NM_001031701		Approved	TU12B1-TY, FLJ11266	uc010swe.1	Q86UY8	OTTHUMG00000157017	ENST00000392876.3:c.856G>A	12.37:g.104187249C>T	ENSP00000376615:p.Ala286Thr						p.A286T	NM_001031701	NP_001026871	Q86UY8	NT5D3_HUMAN			8	897	-			286					Q9NUM7|Q9P2T2|Q9P2T3	Missense_Mutation	SNP	ENST00000392876.3	37	c.856G>A	CCDS41824.1	.	.	.	.	.	.	.	.	.	.	C	17.43	3.386535	0.61956	.	.	ENSG00000111696	ENST00000392876	T	0.22134	1.97	5.99	5.99	0.97316	HAD-like domain (2);	0.215655	0.50627	D	0.000120	T	0.08891	0.0220	N	0.01048	-1.04	0.40250	D	0.978063	B	0.11235	0.004	B	0.22152	0.038	T	0.36212	-0.9757	10	0.30854	T	0.27	-32.4841	15.2218	0.73316	0.1405:0.8595:0.0:0.0	.	286	Q86UY8	NT5D3_HUMAN	T	286	ENSP00000376615:A286T	ENSP00000376615:A286T	A	-	1	0	NT5DC3	102711379	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	2.948000	0.49066	2.840000	0.97914	0.655000	0.94253	GCC		PASS	0.443	NT5DC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347118.2	NM_016575		3	37	3	37	---	---	---	---
TMEM132D	121256	broad.mit.edu	37	12	129566354	129566354	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr12:129566354G>T	ENST00000422113.2	-	7	2199	c.1873C>A	c.(1873-1875)Caa>Aaa	p.Q625K	TMEM132D_ENST00000389441.4_Missense_Mutation_p.Q163K	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	625					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.Q625K(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TGTCCGCCTTGCAGCTTGGCG	0.527																																						uc009zyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14						c.(1873-1875)CAA>AAA		transmembrane protein 132D precursor							54.0	51.0	52.0					12																	129566354		2203	4300	6503	SO:0001583	missense	121256					integral to membrane		g.chr12:129566354G>T	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.1873C>A	12.37:g.129566354G>T	ENSP00000408581:p.Gln625Lys					TMEM132D_uc001uia.2_Missense_Mutation_p.Q163K	p.Q625K	NM_133448	NP_597705	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	7	2201	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	625			Extracellular (Potential).		Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	c.1873C>A	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	G	10.05	1.243361	0.22796	.	.	ENSG00000151952	ENST00000389441;ENST00000422113	T;T	0.13420	2.59;2.59	4.53	4.53	0.55603	.	0.268215	0.31747	N	0.007123	T	0.20901	0.0503	M	0.78456	2.415	0.31213	N	0.698438	B;B	0.33940	0.063;0.433	B;B	0.32805	0.022;0.153	T	0.14448	-1.0472	9	.	.	.	-7.1371	17.238	0.87005	0.0:0.0:1.0:0.0	.	625;163	Q14C87;Q14C87-2	T132D_HUMAN;.	K	163;625	ENSP00000374092:Q163K;ENSP00000408581:Q625K	.	Q	-	1	0	TMEM132D	128132307	0.985000	0.35326	0.507000	0.27676	0.095000	0.18619	5.452000	0.66638	2.042000	0.60477	0.561000	0.74099	CAA		PASS	0.527	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		6	54	6	54	---	---	---	---
ALG5	29880	broad.mit.edu	37	13	37524105	37524105	+	Missense_Mutation	SNP	G	G	A			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr13:37524105G>A	ENST00000239891.3	-	10	1015	c.949C>T	c.(949-951)Ctt>Ttt	p.L317F	ALG5_ENST00000443765.1_Missense_Mutation_p.L287F	NM_013338.4	NP_037470.1	Q9Y673	ALG5_HUMAN	ALG5, dolichyl-phosphate beta-glucosyltransferase	317					cellular protein metabolic process (GO:0044267)|determination of left/right symmetry (GO:0007368)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	dolichyl-phosphate beta-glucosyltransferase activity (GO:0004581)|oligosaccharyl transferase activity (GO:0004576)	p.L317F(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)		all cancers(112;5.79e-07)|Epithelial(112;1.81e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00785)|BRCA - Breast invasive adenocarcinoma(63;0.0127)|GBM - Glioblastoma multiforme(144;0.0472)		GTTTGCTCAAGCCTCCAGGCA	0.363																																						uc001uvy.2																			1	Substitution - Missense(1)		lung(1)		0						c.(949-951)CTT>TTT		dolichyl-phosphate beta-glucosyltransferase							85.0	83.0	84.0					13																	37524105		2203	4300	6503	SO:0001583	missense	29880				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate beta-glucosyltransferase activity|oligosaccharyl transferase activity	g.chr13:37524105G>A	AF088028	CCDS9361.1, CCDS45033.1	13q13.1	2013-02-22	2013-02-21		ENSG00000120697	ENSG00000120697	2.4.1.117	"""Glycosyltransferase family 2 domain containing"""	20266	protein-coding gene	gene with protein product		604565	"""asparagine-linked glycosylation 5 homolog (yeast, dolichyl-phosphate beta-glucosyltransferase)"", ""asparagine-linked glycosylation 5, dolichyl-phosphate beta-glucosyltransferase homolog (S. cerevisiae)"""			10359825	Standard	NM_013338		Approved	bA421P11.2	uc001uvy.3	Q9Y673	OTTHUMG00000016741	ENST00000239891.3:c.949C>T	13.37:g.37524105G>A	ENSP00000239891:p.Leu317Phe					ALG5_uc010teq.1_Missense_Mutation_p.L287F|ALG5_uc010ter.1_RNA	p.L317F	NM_013338	NP_037470	Q9Y673	ALG5_HUMAN		all cancers(112;5.79e-07)|Epithelial(112;1.81e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00785)|BRCA - Breast invasive adenocarcinoma(63;0.0127)|GBM - Glioblastoma multiforme(144;0.0472)	10	1016	-		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	317			Lumenal (Potential).		B4DR37|Q5TBA6	Missense_Mutation	SNP	ENST00000239891.3	37	c.949C>T	CCDS9361.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.097342	0.76870	.	.	ENSG00000120697	ENST00000443765;ENST00000239891	D	0.83755	-1.76	5.86	4.15	0.48705	.	0.181621	0.49916	N	0.000133	D	0.85013	0.5600	M	0.72894	2.215	0.80722	D	1	P;B	0.44877	0.845;0.015	P;B	0.51266	0.664;0.021	D	0.83929	0.0305	10	0.62326	D	0.03	.	7.5967	0.28052	0.136:0.0:0.7306:0.1333	.	287;317	Q9Y673-2;Q9Y673	.;ALG5_HUMAN	F	287;317	ENSP00000239891:L317F	ENSP00000239891:L317F	L	-	1	0	ALG5	36422105	1.000000	0.71417	0.989000	0.46669	0.958000	0.62258	3.584000	0.53936	0.840000	0.34995	-0.126000	0.14955	CTT		PASS	0.363	ALG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044528.2	NM_013338		6	42	6	42	---	---	---	---
CSNK1A1L	122011	broad.mit.edu	37	13	37678416	37678416	+	Missense_Mutation	SNP	T	T	A			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr13:37678416T>A	ENST00000379800.3	-	1	1387	c.978A>T	c.(976-978)caA>caT	p.Q326H		NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	326					cell morphogenesis (GO:0000902)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.Q326H(1)		NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		TTTTTTCAGTTTGCTTGCCTG	0.463																																						uc001uwm.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(976-978)CAA>CAT		casein kinase 1, alpha 1-like							148.0	145.0	146.0					13																	37678416		2203	4300	6503	SO:0001583	missense	122011				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr13:37678416T>A	BC028723	CCDS9363.1	13q13.2	2008-02-05			ENSG00000180138	ENSG00000180138			20289	protein-coding gene	gene with protein product							Standard	NM_145203		Approved	MGC33182	uc001uwm.1	Q8N752	OTTHUMG00000016748	ENST00000379800.3:c.978A>T	13.37:g.37678416T>A	ENSP00000369126:p.Gln326His						p.Q326H	NM_145203	NP_660204	Q8N752	KC1AL_HUMAN		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)	1	1386	-		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)	326					Q5T2N2	Missense_Mutation	SNP	ENST00000379800.3	37	c.978A>T	CCDS9363.1	.	.	.	.	.	.	.	.	.	.	T	15.27	2.783285	0.49891	.	.	ENSG00000180138	ENST00000379800	T	0.52057	0.68	0.858	0.858	0.19030	.	2.633920	0.03070	N	0.157058	T	0.43986	0.1272	N	0.14661	0.345	0.28984	N	0.888447	P	0.50943	0.94	P	0.54664	0.758	T	0.42749	-0.9433	10	0.44086	T	0.13	.	5.885	0.18876	0.0:0.0:0.0:1.0	.	326	Q8N752	KC1AL_HUMAN	H	326	ENSP00000369126:Q326H	ENSP00000369126:Q326H	Q	-	3	2	CSNK1A1L	36576416	1.000000	0.71417	0.001000	0.08648	0.002000	0.02628	5.171000	0.64996	0.616000	0.30141	0.459000	0.35465	CAA		PASS	0.463	CSNK1A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044563.1	NM_145203		17	54	17	54	---	---	---	---
PROSER1	80209	broad.mit.edu	37	13	39603489	39603489	+	Silent	SNP	T	T	C			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr13:39603489T>C	ENST00000352251.3	-	4	1037	c.204A>G	c.(202-204)acA>acG	p.T68T	PROSER1_ENST00000350125.3_Silent_p.T46T	NM_025138.4	NP_079414.3	Q86XN7	PRSR1_HUMAN	proline and serine rich 1	68								p.T68T(1)									TGACCACTTCTGTTGGCTGGA	0.303																																						uc001uwy.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)	5						c.(202-204)ACA>ACG		hypothetical protein LOC80209 isoform 1							76.0	75.0	76.0					13																	39603489		1808	4077	5885	SO:0001819	synonymous_variant	80209							g.chr13:39603489T>C	AK022723	CCDS9368.2	13q13.2	2011-08-09	2011-08-09	2011-08-09	ENSG00000120685	ENSG00000120685			20291	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 23"""	C13orf23			Standard	NM_025138		Approved	bA50D16.2, FLJ12661	uc001uwy.4	Q86XN7	OTTHUMG00000016764	ENST00000352251.3:c.204A>G	13.37:g.39603489T>C						C13orf23_uc001uwz.2_Silent_p.T46T	p.T68T	NM_025138	NP_079414	Q86XN7	CM023_HUMAN		all cancers(112;3.7e-08)|Epithelial(112;4.28e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00114)|BRCA - Breast invasive adenocarcinoma(63;0.00366)|GBM - Glioblastoma multiforme(144;0.0146)	4	1077	-		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)	68					A6NJ97|Q6P2S2|Q7Z3X5|Q8N3D2|Q8N3P1|Q9H9M1	Silent	SNP	ENST00000352251.3	37	c.204A>G	CCDS9368.2																																																																																				PASS	0.303	PROSER1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044607.5	NM_025138		5	56	5	56	---	---	---	---
DAOA	267012	broad.mit.edu	37	13	106142326	106142326	+	Nonsense_Mutation	SNP	A	A	T			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr13:106142326A>T	ENST00000375936.3	+	4	404	c.358A>T	c.(358-360)Aag>Tag	p.K120*	DAOA_ENST00000329625.5_Nonsense_Mutation_p.K49*|DAOA-AS1_ENST00000448407.1_RNA	NM_001161812.1|NM_172370.3	NP_001155284.1|NP_758958.3	P59103	DAOA_HUMAN	D-amino acid oxidase activator	120					negative regulation of D-amino-acid oxidase activity (GO:1900758)|positive regulation of catalytic activity (GO:0043085)	Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)	enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)	p.K120*(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	13	Lung NSC(43;0.01)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					tgaggcctctaaggaccgcag	0.468																																						uc001vqb.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(358-360)AAG>TAG		D-amino acid oxidase activator isoform 1							48.0	52.0	51.0					13																	106142326		2033	4192	6225	SO:0001587	stop_gained	267012					Golgi apparatus		g.chr13:106142326A>T	AY138547	CCDS41905.1, CCDS53880.1, CCDS59242.1	13q33.2	2011-08-01			ENSG00000182346	ENSG00000182346			21191	protein-coding gene	gene with protein product	"""G72 transcript"""	607408				12364586, 15057823	Standard	NM_001161814		Approved	G72	uc010tjg.2	P59103	OTTHUMG00000041333	ENST00000375936.3:c.358A>T	13.37:g.106142326A>T	ENSP00000365103:p.Lys120*					DAOA_uc010tjf.1_Nonsense_Mutation_p.K49*|DAOA_uc001vpz.2_RNA|DAOA_uc010agd.2_RNA|DAOA_uc010tjg.1_Nonsense_Mutation_p.K92*|DAOA_uc001vqc.2_RNA|DAOA_uc001vqe.2_RNA	p.K120*	NM_172370	NP_758958	P59103	DAOA_HUMAN			4	632	+	Lung NSC(43;0.01)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)		120					A6NKG7|Q0VAE6|Q5VX59|Q86Y17|Q8IWM4	Nonsense_Mutation	SNP	ENST00000375936.3	37	c.358A>T	CCDS41905.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.309042	0.81247	.	.	ENSG00000182346	ENST00000375936;ENST00000329625	.	.	.	2.25	-3.97	0.04094	.	.	.	.	.	.	.	.	.	.	.	0.53688	A	0.999972	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	2.352	0.04286	0.3245:0.0:0.2768:0.3987	.	.	.	.	X	120;49	.	ENSP00000329951:K49X	K	+	1	0	DAOA	104940327	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.484000	0.06528	-0.973000	0.03555	-0.297000	0.09499	AAG		PASS	0.468	DAOA-005	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000099040.2	NM_172370		7	27	7	27	---	---	---	---
OR4M1	441670	broad.mit.edu	37	14	20248835	20248836	+	Missense_Mutation	DNP	GG	GG	AT			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr14:20248835_20248836GG>AT	ENST00000315957.4	+	1	435_436	c.354_355GG>AT	c.(352-357)atGGcc>atATcc	p.118_119MA>IS		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	118						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M118_A119>IS(1)|p.M118I(1)|p.A119S(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCACAGTGATGGCCTATGACCG	0.51																																						uc010tku.1																			3	Substitution - Missense(2)|Complex - compound substitution(1)		lung(3)		0						c.(352-354)ATG>ATA|c.(355-357)GCC>TCC		olfactory receptor, family 4, subfamily M,																																				SO:0001583	missense	441670				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20248835G>A|g.chr14:20248836G>T		CCDS32021.1	14q11.2	2013-09-23			ENSG00000176299	ENSG00000176299		"""GPCR / Class A : Olfactory receptors"""	14735	protein-coding gene	gene with protein product							Standard	NM_001005500		Approved		uc010tku.2	Q8NGD0	OTTHUMG00000170599	Exception_encountered	14.37:g.20248835_20248836delinsAT	ENSP00000319654:p.M118_A119delinsIS						p.M118I|p.A119S	NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	354|355	+	all_cancers(95;0.00108)		118|119			Helical; Name=3; (Potential).		B9EH18|Q6IFA3	Missense_Mutation	SNP	ENST00000315957.4	37	c.354G>A|c.355G>T	CCDS32021.1																																																																																				PASS	0.510	OR4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409770.1			17|18	190|187	17	187	---	---	---	---
PRKD1	5587	broad.mit.edu	37	14	30066794	30066794	+	Silent	SNP	G	G	A			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr14:30066794G>A	ENST00000331968.5	-	16	2566	c.2337C>T	c.(2335-2337)ggC>ggT	p.G779G	PRKD1_ENST00000415220.2_Silent_p.G787G	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	779	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)	p.G779G(2)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		ATGGGAATGTGCCGCTTAGGC	0.463																																						uc001wqh.2																			2	Substitution - coding silent(2)		lung(2)	lung(3)|large_intestine(2)|ovary(2)|skin(1)	8						c.(2335-2337)GGC>GGT		protein kinase D1							155.0	144.0	147.0					14																	30066794		2203	4300	6503	SO:0001819	synonymous_variant	5587				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr14:30066794G>A		CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	9407	protein-coding gene	gene with protein product		605435	"""protein kinase C, mu"""	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.2337C>T	14.37:g.30066794G>A							p.G779G	NM_002742	NP_002733	Q15139	KPCD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)	16	2518	-	Hepatocellular(127;0.0604)		779			Protein kinase.		A6NL64|B2RAF6	Silent	SNP	ENST00000331968.5	37	c.2337C>T	CCDS9637.1																																																																																				PASS	0.463	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	NM_002742		9	82	9	82	---	---	---	---
BAZ1A	11177	broad.mit.edu	37	14	35231082	35231082	+	Missense_Mutation	SNP	G	G	A			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr14:35231082G>A	ENST00000382422.2	-	23	4451	c.4124C>T	c.(4123-4125)cCt>cTt	p.P1375L	BAZ1A_ENST00000360310.1_Missense_Mutation_p.P1375L|BAZ1A_ENST00000358716.4_Missense_Mutation_p.P1343L			Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	1375					chromatin remodeling (GO:0006338)|DNA-dependent DNA replication (GO:0006261)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	ACF complex (GO:0016590)|CHRAC (GO:0008623)|nuclear chromosome (GO:0000228)	zinc ion binding (GO:0008270)	p.P1375L(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		TCTGAAGTTAGGGAAGTTGGG	0.403																																						uc001wsk.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|central_nervous_system(2)|ovary(1)|breast(1)|skin(1)	7						c.(4123-4125)CCT>CTT		bromodomain adjacent to zinc finger domain, 1A							199.0	194.0	196.0					14																	35231082		2203	4300	6503	SO:0001583	missense	11177				chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding	g.chr14:35231082G>A	AB032252	CCDS9651.1, CCDS41943.1	14q13.2	2013-01-28			ENSG00000198604	ENSG00000198604		"""Zinc fingers, PHD-type"""	960	protein-coding gene	gene with protein product		605680				10662543	Standard	NM_013448		Approved	hACF1, ACF1, WALp1, WCRF180	uc001wsk.3	Q9NRL2	OTTHUMG00000140216	ENST00000382422.2:c.4124C>T	14.37:g.35231082G>A	ENSP00000371859:p.Pro1375Leu					BAZ1A_uc001wsl.2_Missense_Mutation_p.P1343L	p.P1375L	NM_013448	NP_038476	Q9NRL2	BAZ1A_HUMAN	LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)	24	4692	-	Breast(36;0.0388)|Hepatocellular(127;0.158)		1375					Q9NZ15|Q9P065|Q9UIG1|Q9Y3V3	Missense_Mutation	SNP	ENST00000382422.2	37	c.4124C>T	CCDS9651.1	.	.	.	.	.	.	.	.	.	.	.	12.26	1.885800	0.33348	.	.	ENSG00000198604	ENST00000358716;ENST00000382422;ENST00000360310;ENST00000543083	T;T;T	0.44482	0.92;0.92;0.92	5.86	3.98	0.46160	.	0.286819	0.33023	N	0.005361	T	0.20901	0.0503	N	0.17082	0.46	0.34937	D	0.749908	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.13629	-1.0502	10	0.25106	T	0.35	.	2.1647	0.03834	0.1548:0.1734:0.4937:0.1781	.	1343;1375	Q9NRL2-2;Q9NRL2	.;BAZ1A_HUMAN	L	1343;1375;1375;1027	ENSP00000351555:P1343L;ENSP00000371859:P1375L;ENSP00000353458:P1375L	ENSP00000351555:P1343L	P	-	2	0	BAZ1A	34300833	0.094000	0.21725	0.582000	0.28627	0.963000	0.63663	2.216000	0.42871	0.763000	0.33175	0.563000	0.77884	CCT		PASS	0.403	BAZ1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276646.1			10	114	10	114	---	---	---	---
ACOT2	10965	broad.mit.edu	37	14	74036497	74036497	+	Missense_Mutation	SNP	A	A	G			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr14:74036497A>G	ENST00000238651.5	+	1	735	c.553A>G	c.(553-555)Acg>Gcg	p.T185A	ACOT2_ENST00000538782.1_Intron	NM_006821.5	NP_006812.3	P49753	ACOT2_HUMAN	acyl-CoA thioesterase 2	185					acyl-CoA metabolic process (GO:0006637)|long-chain fatty acid metabolic process (GO:0001676)|very long-chain fatty acid metabolic process (GO:0000038)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)	p.T185A(1)		breast(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.0639)		GCTGTGCCAGACGCGGCACGA	0.736																																						uc001xon.3																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(553-555)ACG>GCG		acyl-CoA thioesterase 2							8.0	8.0	8.0					14																	74036497		1966	3905	5871	SO:0001583	missense	10965				acyl-CoA metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process	mitochondrion	carboxylesterase activity|palmitoyl-CoA hydrolase activity|protein binding	g.chr14:74036497A>G	AY005822, AK001939	CCDS9816.1	14q24.3	2013-09-20			ENSG00000119673	ENSG00000119673		"""Acyl CoA thioesterases"""	18431	protein-coding gene	gene with protein product	"""mitochondrial acyl-CoA thioesterase 1"""	609972				16103133, 16940157	Standard	NM_006821		Approved	Mte1, ZAP128	uc001xon.5	P49753	OTTHUMG00000171608	ENST00000238651.5:c.553A>G	14.37:g.74036497A>G	ENSP00000238651:p.Thr185Ala					ACOT1_uc010tuc.1_Intron|ACOT2_uc001xom.2_Intron	p.T185A	NM_006821	NP_006812	P49753	ACOT2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.0639)	1	726	+			185					Q3I5F8|Q53EK4|Q9NUX4	Missense_Mutation	SNP	ENST00000238651.5	37	c.553A>G	CCDS9816.1	.	.	.	.	.	.	.	.	.	.	a	0.005	-2.126007	0.00342	.	.	ENSG00000119673	ENST00000238651	T	0.69040	-0.37	3.38	0.388	0.16264	Acyl-CoA thioester hydrolase/bile acid-CoA amino acid N-acetyltransferase (1);	0.564702	0.18389	N	0.142713	T	0.27765	0.0683	N	0.01081	-1.03	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34104	-0.9842	10	0.02654	T	1	-2.5748	8.7631	0.34687	0.3703:0.0:0.6297:0.0	.	185	P49753	ACOT2_HUMAN	A	185	ENSP00000238651:T185A	ENSP00000238651:T185A	T	+	1	0	ACOT2	73106250	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.502000	0.22594	-0.539000	0.06273	-1.945000	0.00491	ACG		PASS	0.736	ACOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414435.1	NM_006821		3	9	3	9	---	---	---	---
SERPINA4	5267	broad.mit.edu	37	14	95035794	95035794	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr14:95035794C>A	ENST00000557004.1	+	5	1567	c.1146C>A	c.(1144-1146)agC>agA	p.S382R	SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000298841.5_Missense_Mutation_p.S382R|SERPINA4_ENST00000555095.1_Missense_Mutation_p.S382R			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	382				S -> T (in Ref. 1 and 2). {ECO:0000305}.	negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.S382R(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		CAGCCACCAGCTTCGCGATCA	0.557																																						uc001ydk.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(1144-1146)AGC>AGA		serine (or cysteine) proteinase inhibitor, clade							77.0	60.0	66.0					14																	95035794		2203	4300	6503	SO:0001583	missense	5267				regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	g.chr14:95035794C>A	L19684	CCDS9927.1	14q32.13	2014-02-18	2005-08-18		ENSG00000100665	ENSG00000100665		"""Serine (or cysteine) peptidase inhibitors"""	8948	protein-coding gene	gene with protein product		147935	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4"""	PI4		8227002, 24172014	Standard	NM_001289032		Approved	KST, KAL, KLST, kallistatin	uc001ydk.3	P29622	OTTHUMG00000170859	ENST00000557004.1:c.1146C>A	14.37:g.95035794C>A	ENSP00000450838:p.Ser382Arg					SERPINA4_uc010avd.2_Missense_Mutation_p.S419R|SERPINA4_uc001ydl.2_Missense_Mutation_p.S382R	p.S382R	NM_006215	NP_006206	P29622	KAIN_HUMAN		COAD - Colon adenocarcinoma(157;0.211)	5	1212	+			382	S -> T (in Ref. 1 and 2).				Q53XB5|Q86TR9|Q96BZ5	Missense_Mutation	SNP	ENST00000557004.1	37	c.1146C>A	CCDS9927.1	.	.	.	.	.	.	.	.	.	.	C	10.11	1.260437	0.23051	.	.	ENSG00000100665	ENST00000557004;ENST00000555095;ENST00000298841	D;D;D	0.82711	-1.64;-1.64;-1.64	5.38	-8.36	0.00980	Serpin domain (3);	1.339150	0.05358	N	0.533074	T	0.75838	0.3904	L	0.33293	1	0.09310	N	1	P;B	0.52463	0.953;0.292	P;B	0.56865	0.808;0.166	T	0.68273	-0.5452	10	0.23302	T	0.38	.	0.8311	0.01130	0.2452:0.1796:0.1634:0.4117	.	382;382	B2R815;P29622	.;KAIN_HUMAN	R	382	ENSP00000450838:S382R;ENSP00000451172:S382R;ENSP00000298841:S382R	ENSP00000298841:S382R	S	+	3	2	SERPINA4	94105547	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.608000	0.02068	-1.449000	0.01938	0.561000	0.74099	AGC		PASS	0.557	SERPINA4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410718.1	NM_006215		5	26	5	26	---	---	---	---
ATP10A	57194	broad.mit.edu	37	15	25959128	25959128	+	Silent	SNP	C	C	A			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr15:25959128C>A	ENST00000356865.6	-	10	2148	c.2037G>T	c.(2035-2037)tcG>tcT	p.S679S		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	679					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|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.S679S(1)		NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GAGCAAGCTCCGAGGCCCAGT	0.677																																						uc010ayu.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(2)|ovary(1)|breast(1)|liver(1)	5						c.(2035-2037)TCG>TCT		ATPase, class V, type 10A							26.0	29.0	28.0					15																	25959128		2203	4299	6502	SO:0001819	synonymous_variant	57194				ATP biosynthetic process|regulation of cell shape	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.chr15:25959128C>A	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.2037G>T	15.37:g.25959128C>A							p.S679S	NM_024490	NP_077816	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	10	2143	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	679			Cytoplasmic (Potential).		Q4G0S9|Q969I4	Silent	SNP	ENST00000356865.6	37	c.2037G>T	CCDS32178.1																																																																																				PASS	0.677	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		4	28	4	28	---	---	---	---
RPAP1	26015	broad.mit.edu	37	15	41827820	41827820	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr15:41827820G>T	ENST00000304330.4	-	5	547	c.431C>A	c.(430-432)gCa>gAa	p.A144E	RPAP1_ENST00000568413.1_5'Flank|RPAP1_ENST00000561603.1_Missense_Mutation_p.A144E	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	144						nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)	p.A144E(1)		NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		ACCAGATGTTGCTGATTTCCC	0.502																																						uc001zod.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(430-432)GCA>GAA		RNA polymerase II associated protein 1							78.0	79.0	79.0					15																	41827820		2203	4300	6503	SO:0001583	missense	26015					nucleus	DNA binding|DNA-directed RNA polymerase activity	g.chr15:41827820G>T	BC000246	CCDS10079.1	15q14	2004-03-16			ENSG00000103932	ENSG00000103932			24567	protein-coding gene	gene with protein product		611475				10718198	Standard	XM_005254297		Approved	DKFZP727M111, KIAA1403, MGC858, FLJ12732	uc001zod.3	Q9BWH6	OTTHUMG00000130342	ENST00000304330.4:c.431C>A	15.37:g.41827820G>T	ENSP00000306123:p.Ala144Glu						p.A144E	NM_015540	NP_056355	Q9BWH6	RPAP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)	5	555	-		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	144					Q9H9I2|Q9NSQ5|Q9P2E4|Q9UFS7	Missense_Mutation	SNP	ENST00000304330.4	37	c.431C>A	CCDS10079.1	.	.	.	.	.	.	.	.	.	.	G	15.33	2.802889	0.50315	.	.	ENSG00000103932	ENST00000304330	T	0.11385	2.78	5.38	2.46	0.29980	.	0.574233	0.17703	N	0.164874	T	0.09512	0.0234	L	0.47716	1.5	0.09310	N	1	B	0.29341	0.242	B	0.25291	0.059	T	0.23261	-1.0193	10	0.87932	D	0	-14.8908	6.5944	0.22664	0.1626:0.1472:0.6902:0.0	.	144	Q9BWH6	RPAP1_HUMAN	E	144	ENSP00000306123:A144E	ENSP00000306123:A144E	A	-	2	0	RPAP1	39615112	0.051000	0.20477	0.006000	0.13384	0.533000	0.34776	1.875000	0.39578	0.256000	0.21614	0.485000	0.47835	GCA		PASS	0.502	RPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252694.2	NM_015540		3	48	3	48	---	---	---	---
SLC24A5	283652	broad.mit.edu	37	15	48434509	48434509	+	Silent	SNP	A	A	T			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr15:48434509A>T	ENST00000341459.3	+	9	1537	c.1464A>T	c.(1462-1464)ggA>ggT	p.G488G	SLC24A5_ENST00000449382.2_Silent_p.G428G|MYEF2_ENST00000324324.7_3'UTR|MYEF2_ENST00000267836.6_3'UTR	NM_205850.2	NP_995322.1	Q71RS6	NCKX5_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 5	488					ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|negative regulation of melanin biosynthetic process (GO:0048022)|response to stimulus (GO:0050896)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)	p.G488G(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27		all_lung(180;0.00217)		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)		ATGAACTTGGAATTATTGGAA	0.373																																						uc001zwe.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1462-1464)GGA>GGT		solute carrier family 24, member 5 precursor							51.0	53.0	52.0					15																	48434509		2198	4294	6492	SO:0001819	synonymous_variant	283652				response to stimulus	integral to membrane|melanosome|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr15:48434509A>T	AF348468	CCDS10128.1	15q21.1	2014-01-28	2013-07-18		ENSG00000188467	ENSG00000188467		"""Solute carriers"""	20611	protein-coding gene	gene with protein product	"""oculocutaneous albinism 6 (autosomal recessive)"""	609802	"""solute carrier family 24, member 5"""			23364476	Standard	XM_005254308		Approved	JSX, OCA6	uc001zwe.3	Q71RS6	OTTHUMG00000131494	ENST00000341459.3:c.1464A>T	15.37:g.48434509A>T						SLC24A5_uc010bel.2_Silent_p.G428G|MYEF2_uc001zwg.3_3'UTR|MYEF2_uc001zwh.3_3'UTR|MYEF2_uc001zwi.3_3'UTR|MYEF2_uc001zwj.3_3'UTR|SLC24A5_uc001zwk.2_Silent_p.G119G	p.G488G	NM_205850	NP_995322	Q71RS6	NCKX5_HUMAN		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)	9	1537	+		all_lung(180;0.00217)	488			Helical; Name=11; (Potential).		A5X8Z8|A5X8Z9|Q14CT4|Q6DKH3	Silent	SNP	ENST00000341459.3	37	c.1464A>T	CCDS10128.1																																																																																				PASS	0.373	SLC24A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254340.2	NM_205850		7	57	7	57	---	---	---	---
WDR72	256764	broad.mit.edu	37	15	53908393	53908393	+	Silent	SNP	C	C	T			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr15:53908393C>T	ENST00000396328.1	-	15	2249	c.2010G>A	c.(2008-2010)gtG>gtA	p.V670V	WDR72_ENST00000360509.5_Silent_p.V670V|WDR72_ENST00000557913.1_Silent_p.V667V|WDR72_ENST00000559418.1_Silent_p.V680V	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	670								p.V670V(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		ATTTTGTCTTCACAGGCAAGA	0.343																																						uc002acj.2																			1	Substitution - coding silent(1)		lung(1)	lung(1)|skin(1)	2						c.(2008-2010)GTG>GTA		WD repeat domain 72							63.0	61.0	61.0					15																	53908393		2193	4292	6485	SO:0001819	synonymous_variant	256764							g.chr15:53908393C>T	BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"""WD repeat domain containing"""	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.2010G>A	15.37:g.53908393C>T						WDR72_uc010bfi.1_Silent_p.V670V	p.V670V	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN		all cancers(107;0.0511)	15	2052	-			670					Q7Z3I3|Q8N8X2	Silent	SNP	ENST00000396328.1	37	c.2010G>A	CCDS10151.1																																																																																				PASS	0.343	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758		3	28	3	28	---	---	---	---
ZNF280D	54816	broad.mit.edu	37	15	56961049	56961049	+	Missense_Mutation	SNP	T	T	A			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr15:56961049T>A	ENST00000267807.7	-	14	1733	c.1517A>T	c.(1516-1518)cAa>cTa	p.Q506L	ZNF280D_ENST00000396245.1_Missense_Mutation_p.Q210L|ZNF280D_ENST00000559237.1_Missense_Mutation_p.Q493L|ZNF280D_ENST00000559000.1_Missense_Mutation_p.Q493L	NM_017661.2	NP_060131.2	Q6N043	Z280D_HUMAN	zinc finger protein 280D	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.Q506L(1)		endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		TCCTTCTAGTTGTTTAGGTTT	0.333																																						uc002adu.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|skin(1)	3						c.(1516-1518)CAA>CTA		suppressor of hairy wing homolog 4 isoform 1							139.0	128.0	132.0					15																	56961049		2192	4292	6484	SO:0001583	missense	54816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:56961049T>A	AB046804	CCDS32245.1, CCDS42041.1, CCDS58364.1	15q21.2	2008-05-02	2007-09-20	2007-09-20					25953	protein-coding gene	gene with protein product			"""suppressor of hairy wing homolog 4 (Drosophila)"""	SUHW4		10997877	Standard	XM_005254481		Approved	FLJ20086, ZNF634	uc002adu.3	Q6N043		ENST00000267807.7:c.1517A>T	15.37:g.56961049T>A	ENSP00000267807:p.Gln506Leu					ZNF280D_uc002adv.2_Missense_Mutation_p.Q493L|ZNF280D_uc010bfq.2_Missense_Mutation_p.Q506L|ZNF280D_uc002adw.1_Missense_Mutation_p.Q534L|ZNF280D_uc010bfr.1_RNA|ZNF280D_uc010bfp.2_RNA	p.Q506L	NM_017661	NP_060131	Q6N043	Z280D_HUMAN		all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)	14	1734	-			506					A1L495|B2RMT6|Q6MZM6|Q6N085|Q6P2R6|Q7Z6J5|Q9H0U5|Q9HCI8|Q9NXS0	Missense_Mutation	SNP	ENST00000267807.7	37	c.1517A>T	CCDS32245.1	.	.	.	.	.	.	.	.	.	.	T	17.64	3.439624	0.63067	.	.	ENSG00000137871	ENST00000267807;ENST00000455329;ENST00000396245	T;T	0.03663	3.85;4.39	5.17	5.17	0.71159	.	.	.	.	.	T	0.07098	0.0180	L	0.60455	1.87	0.34949	D	0.751044	B;B	0.29936	0.262;0.194	B;B	0.32677	0.071;0.15	T	0.07309	-1.0779	9	0.87932	D	0	-7.232	14.197	0.65677	0.0:0.0:0.0:1.0	.	569;506	B4DHL1;Q6N043	.;Z280D_HUMAN	L	506;493;210	ENSP00000267807:Q506L;ENSP00000379545:Q210L	ENSP00000267807:Q506L	Q	-	2	0	ZNF280D	54748341	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.022000	0.57203	1.956000	0.56807	0.533000	0.62120	CAA		PASS	0.333	ZNF280D-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418891.2	XM_370867		4	60	4	60	---	---	---	---
SKOR1	390598	broad.mit.edu	37	15	68118713	68118713	+	Missense_Mutation	SNP	G	G	A			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr15:68118713G>A	ENST00000380035.2	+	2	605	c.547G>A	c.(547-549)Gtg>Atg	p.V183M	SKOR1_ENST00000554054.1_Missense_Mutation_p.V155M|SKOR1_ENST00000341418.5_Missense_Mutation_p.V369M|SKOR1_ENST00000389002.1_Missense_Mutation_p.V174M|SKOR1_ENST00000554240.1_Missense_Mutation_p.V144M			P84550	SKOR1_HUMAN	SKI family transcriptional corepressor 1	183					negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)	p.V183M(1)|p.V174M(1)		endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						CGCCTTCGATGTGGTGCACGA	0.607																																						uc002aqy.1																			2	Substitution - Missense(2)		lung(2)		0						c.(520-522)GTG>ATG		transcriptional corepressor Corl1							93.0	83.0	86.0					15																	68118713		2200	4298	6498	SO:0001583	missense	390598				negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|dendrite|neuronal cell body|nucleus	nucleotide binding|SMAD binding|transcription repressor activity	g.chr15:68118713G>A		CCDS58374.1	15q23	2011-08-04	2010-06-23	2010-06-23	ENSG00000188779	ENSG00000188779		"""SKI transcriptional corepressors"""	21326	protein-coding gene	gene with protein product	"""transcriptional corepressor CORL1"", ""functional smad suppressing element 15"", ""corepressor for LBX1"""	611273	"""Lbxcor1 homolog (mouse)"""	LBXCOR1		15528197	Standard	NM_001258024		Approved	CORL1, FUSSEL15	uc031qsn.1	P84550		ENST00000380035.2:c.547G>A	15.37:g.68118713G>A	ENSP00000369374:p.Val183Met						p.V174M	NM_001031807	NP_001026977	P84550	SKOR1_HUMAN			2	520	+			183					A6NIP4|A6NJY0|Q2VWA5	Missense_Mutation	SNP	ENST00000380035.2	37	c.520G>A		.	.	.	.	.	.	.	.	.	.	G	17.70	3.453247	0.63290	.	.	ENSG00000188779	ENST00000341418;ENST00000554240;ENST00000554054;ENST00000380035;ENST00000389002	D;D;D;D;D	0.86694	-2.09;-2.11;-2.13;-2.16;-2.16	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	D	0.94817	0.8326	M	0.92268	3.29	0.54753	D	0.999989	D	0.76494	0.999	D	0.73380	0.98	D	0.96137	0.9097	10	0.87932	D	0	-24.1148	16.3123	0.82883	0.0:0.0:1.0:0.0	.	174	P84550-3	.	M	369;144;155;183;174	ENSP00000343200:V369M;ENSP00000451193:V144M;ENSP00000452361:V155M;ENSP00000369374:V183M;ENSP00000373654:V174M	ENSP00000343200:V369M	V	+	1	0	SKOR1	65905767	1.000000	0.71417	1.000000	0.80357	0.248000	0.25809	9.750000	0.98875	2.184000	0.69523	0.561000	0.74099	GTG		PASS	0.607	SKOR1-003	KNOWN	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000410832.1	NM_001031807		6	57	6	57	---	---	---	---
RASGRF1	5923	broad.mit.edu	37	15	79339108	79339108	+	Silent	SNP	G	G	A			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr15:79339108G>A	ENST00000419573.3	-	5	1132	c.858C>T	c.(856-858)gtC>gtT	p.V286V	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Silent_p.V286V	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	286	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.V286V(1)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						AGATGCTGCTGACGTCGTCGT	0.572																																						uc002beq.2																			1	Substitution - coding silent(1)		lung(1)	skin(4)|ovary(1)|central_nervous_system(1)	6						c.(856-858)GTC>GTT		Ras protein-specific guanine							191.0	151.0	164.0					15																	79339108		2196	4293	6489	SO:0001819	synonymous_variant	5923				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity	g.chr15:79339108G>A	M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.858C>T	15.37:g.79339108G>A						RASGRF1_uc002bep.2_Silent_p.V286V|RASGRF1_uc010blm.1_Silent_p.V208V|RASGRF1_uc002ber.3_Silent_p.V286V	p.V286V	NM_002891	NP_002882	Q13972	RGRF1_HUMAN			5	1233	-			286			DH.		F8VPA5|H0YKF2|J3KQP9|Q16027	Silent	SNP	ENST00000419573.3	37	c.858C>T	CCDS10309.1																																																																																				PASS	0.572	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891		10	82	10	82	---	---	---	---
ALPK3	57538	broad.mit.edu	37	15	85383868	85383868	+	Missense_Mutation	SNP	G	G	A			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr15:85383868G>A	ENST00000258888.5	+	5	2131	c.1964G>A	c.(1963-1965)aGg>aAg	p.R655K		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	655					heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R655K(2)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GCACCCCTCAGGGCTAGAAGC	0.652																																						uc002ble.2																			2	Substitution - Missense(2)		lung(2)	stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1)	12						c.(1963-1965)AGG>AAG		alpha-kinase 3							28.0	30.0	30.0					15																	85383868		2203	4299	6502	SO:0001583	missense	57538				heart development	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr15:85383868G>A	AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17574	protein-coding gene	gene with protein product	"""myocyte induction differentiation originator"", ""muscle alpha-kinase"""					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.1964G>A	15.37:g.85383868G>A	ENSP00000258888:p.Arg655Lys						p.R655K	NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		5	2131	+			655					Q9P2L6	Missense_Mutation	SNP	ENST00000258888.5	37	c.1964G>A	CCDS10333.1	.	.	.	.	.	.	.	.	.	.	G	5.375	0.254518	0.10185	.	.	ENSG00000136383	ENST00000258888	T	0.57752	0.38	4.71	1.13	0.20643	.	2.548460	0.01256	N	0.009022	T	0.27313	0.0670	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35475	-0.9787	10	0.02654	T	1	-1.8531	6.3146	0.21184	0.673:0.0:0.327:0.0	.	655	Q96L96	ALPK3_HUMAN	K	655	ENSP00000258888:R655K	ENSP00000258888:R655K	R	+	2	0	ALPK3	83184872	0.001000	0.12720	0.002000	0.10522	0.001000	0.01503	0.263000	0.18478	0.337000	0.23665	-0.484000	0.04775	AGG		PASS	0.652	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778		3	43	3	43	---	---	---	---
CDH8	1006	broad.mit.edu	37	16	61747770	61747770	+	Silent	SNP	C	C	T			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr16:61747770C>T	ENST00000577390.1	-	10	2583	c.1629G>A	c.(1627-1629)ccG>ccA	p.P543P	CDH8_ENST00000577730.1_Silent_p.P543P|CDH8_ENST00000299345.6_Silent_p.P543P|CDH8_ENST00000580044.1_5'UTR	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	543	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)	p.P543P(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TGGTGAAATTCGGATTGTTGA	0.333																																						uc002eog.1																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|skin(2)|breast(1)	9						c.(1627-1629)CCG>CCA		cadherin 8, type 2 preproprotein							127.0	127.0	127.0					16																	61747770		2203	4299	6502	SO:0001819	synonymous_variant	1006				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:61747770C>T	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.1629G>A	16.37:g.61747770C>T							p.P543P	NM_001796	NP_001787	P55286	CADH8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	10	1881	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	543			Extracellular (Potential).|Cadherin 5.		B3KWC1|Q14DC6|Q9ULB2	Silent	SNP	ENST00000577390.1	37	c.1629G>A	CCDS10802.1																																																																																				PASS	0.333	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		5	35	5	35	---	---	---	---
COX4I1	1327	broad.mit.edu	37	16	85840455	85840455	+	Missense_Mutation	SNP	A	A	T			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr16:85840455A>T	ENST00000562336.1	+	5	678	c.485A>T	c.(484-486)tAc>tTc	p.Y162F	COX4I1_ENST00000561569.1_Missense_Mutation_p.Y162F|COX4I1_ENST00000564903.1_3'UTR|COX4I1_ENST00000253452.2_Missense_Mutation_p.Y162F			P13073	COX41_HUMAN	cytochrome c oxidase subunit IV isoform 1	162					cellular metabolic process (GO:0044237)|generation of precursor metabolites and energy (GO:0006091)|hydrogen ion transmembrane transport (GO:1902600)|respiratory electron transport chain (GO:0022904)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cytochrome-c oxidase activity (GO:0004129)	p.Y162F(1)		endometrium(1)|large_intestine(2)|lung(5)|skin(1)	9		Renal(780;0.228)				AAGTGGGACTACGAAAAGAAC	0.557																																						uc002fje.2																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(484-486)TAC>TTC		cytochrome c oxidase subunit IV isoform 1							77.0	63.0	67.0					16																	85840455		2198	4300	6498	SO:0001583	missense	1327				respiratory electron transport chain	mitochondrial inner membrane|nucleus	cytochrome-c oxidase activity|protein binding	g.chr16:85840455A>T	AF005889	CCDS10955.1	16q24.1	2012-10-02	2001-11-30	2001-12-07	ENSG00000131143	ENSG00000131143	1.9.3.1	"""Mitochondrial respiratory chain complex / Complex IV"""	2265	protein-coding gene	gene with protein product		123864	"""cytochrome c oxidase subunit IV"""	COX4		2444497, 2157630	Standard	NM_001861		Approved	COX4-1	uc002fje.3	P13073	OTTHUMG00000137649	ENST00000562336.1:c.485A>T	16.37:g.85840455A>T	ENSP00000457513:p.Tyr162Phe					COX4I1_uc002fjf.2_3'UTR|COX4I1_uc002fjg.1_3'UTR|COX4I1_uc010vom.1_Missense_Mutation_p.Y129F	p.Y162F	NM_001861	NP_001852	P13073	COX41_HUMAN			5	649	+		Renal(780;0.228)	162					B2R4J2|D3DUM7|Q6P666	Missense_Mutation	SNP	ENST00000562336.1	37	c.485A>T	CCDS10955.1	.	.	.	.	.	.	.	.	.	.	A	16.89	3.248427	0.59103	.	.	ENSG00000131143	ENST00000253452	T	0.67523	-0.27	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.69151	0.3079	M	0.85542	2.76	0.80722	D	1	B	0.22146	0.065	B	0.22386	0.039	T	0.71073	-0.4698	10	0.62326	D	0.03	-26.9937	11.1522	0.48466	0.8624:0.0:0.0:0.1376	.	162	P13073	COX41_HUMAN	F	162	ENSP00000253452:Y162F	ENSP00000253452:Y162F	Y	+	2	0	COX4I1	84397956	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	5.654000	0.67974	1.942000	0.56320	0.460000	0.39030	TAC		PASS	0.557	COX4I1-016	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430873.1	NM_001861		6	32	6	32	---	---	---	---
Unknown	0	broad.mit.edu	37	16	88620302	88620302	+	IGR	SNP	C	C	A			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr16:88620302C>A								ZFPM1 (16878 upstream) : ZC3H18 (16486 downstream)														p.E110*(1)									CCGGTGGGTTCCTGCAGGGCT	0.632																																						uc010vox.1																			1	Substitution - Nonsense(1)		lung(1)								c.(328-330)GAA>TAA		RecName: Full=Putative uncharacterized protein C16orf85;							54.0	55.0	55.0					16																	88620302		2198	4300	6498	SO:0001628	intergenic_variant	0							g.chr16:88620302C>A																													16.37:g.88620302C>A							p.E110*							2	328	-									Nonsense_Mutation	SNP		37	c.328G>T		.	.	.	.	.	.	.	.	.	.	C	53	21.057651	0.99936	.	.	ENSG00000205036	ENST00000378416	.	.	.	0.82	0.82	0.18793	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	4.8968	0.13755	0.0:1.0:0.0:0.0	.	.	.	.	X	110	.	ENSP00000367672:E110X	E	-	1	0	C16orf85	87147803	0.011000	0.17503	0.021000	0.16686	0.495000	0.33615	-0.646000	0.05403	0.707000	0.31934	0.205000	0.17691	GAA	0	PASS	0.632									3	31	3	31	---	---	---	---
TCF25	22980	broad.mit.edu	37	16	89973675	89973676	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr16:89973675_89973676GG>TT	ENST00000263346.8	+	16	1800_1801	c.1744_1745GG>TT	c.(1744-1746)GGg>TTg	p.G582L	TCF25_ENST00000263347.7_Missense_Mutation_p.G347L|RP11-566K11.7_ENST00000570217.1_RNA	NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN	transcription factor 25 (basic helix-loop-helix)	582					heart development (GO:0007507)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G582W(1)|p.G582V(1)|p.G582L(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		GTCTGTGATGGGGTTTGATCCT	0.569																																						uc002fpb.2																			3	Substitution - Missense(3)		lung(3)		0						c.(1744-1746)GGG>TGG|c.(1744-1746)GGG>GTG		NULP1																																				SO:0001583	missense	22980				heart development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr16:89973675G>T|g.chr16:89973676G>T	AF322111	CCDS10987.1	16q24.3	2008-02-05			ENSG00000141002	ENSG00000141002			29181	protein-coding gene	gene with protein product		612326				12107429, 16574069	Standard	NM_014972		Approved	Nulp1, KIAA1049	uc002fpb.2	Q9BQ70	OTTHUMG00000138986	Exception_encountered	16.37:g.89973675_89973676delinsTT	ENSP00000263346:p.Gly582Leu					TCF25_uc002fpc.2_Missense_Mutation_p.G347W|TCF25_uc002fpc.2_Missense_Mutation_p.G347V	p.G582W|p.G582V	NM_014972	NP_055787	Q9BQ70	TCF25_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0288)	16	1826|1827	+		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)	582					Q2MK75|Q9UPV3	Missense_Mutation	SNP	ENST00000263346.8	37	c.1744G>T|c.1745G>T	CCDS10987.1																																																																																				PASS	0.569	TCF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272875.2	NM_014972		35	169	35	169	---	---	---	---
SMG6	23293	broad.mit.edu	37	17	2203562	2203562	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr17:2203562C>A	ENST00000263073.6	-	2	535	c.485G>T	c.(484-486)cGg>cTg	p.R162L	SMG6_ENST00000544865.1_Missense_Mutation_p.R131L	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	162	Interaction with telomeric DNA.				gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)	p.R162L(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CTCCTCCACCCGACTGGCGGA	0.463																																					Melanoma(59;28 1088 11621 25887 46638 50814)	uc002fub.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|lung(1)|kidney(1)	4						c.(484-486)CGG>CTG		Smg-6 homolog, nonsense mediated mRNA decay							160.0	173.0	169.0					17																	2203562		2203	4300	6503	SO:0001583	missense	23293				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding	g.chr17:2203562C>A	AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog A (S. cerevisiae)"""	610963	"""chromosome 17 open reading frame 31"", ""smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.485G>T	17.37:g.2203562C>A	ENSP00000263073:p.Arg162Leu					SMG6_uc002fud.1_Missense_Mutation_p.R131L	p.R162L	NM_017575	NP_060045	Q86US8	EST1A_HUMAN			2	540	-			162			Interaction with telomeric DNA.		B7Z874|O94837|Q86VH6|Q9UF60	Missense_Mutation	SNP	ENST00000263073.6	37	c.485G>T	CCDS11016.1	.	.	.	.	.	.	.	.	.	.	C	9.086	1.000425	0.19121	.	.	ENSG00000070366	ENST00000263073;ENST00000544865	T;T	0.09255	3.0;3.0	5.48	2.14	0.27477	.	1.158280	0.06033	N	0.653493	T	0.09335	0.0230	L	0.29908	0.895	0.09310	N	1	B	0.28082	0.2	B	0.19946	0.027	T	0.37596	-0.9699	10	0.62326	D	0.03	-0.2178	7.9834	0.30196	0.0:0.6528:0.0:0.3472	.	162	Q86US8	EST1A_HUMAN	L	162;131	ENSP00000263073:R162L;ENSP00000443920:R131L	ENSP00000263073:R162L	R	-	2	0	SMG6	2150312	0.000000	0.05858	0.000000	0.03702	0.608000	0.37181	0.338000	0.19858	0.194000	0.20326	0.655000	0.94253	CGG		PASS	0.463	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437826.3			34	158	34	158	---	---	---	---
ITGAE	3682	broad.mit.edu	37	17	3663533	3663533	+	Missense_Mutation	SNP	G	G	A			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr17:3663533G>A	ENST00000263087.4	-	7	745	c.647C>T	c.(646-648)cCa>cTa	p.P216L		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	216	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	external side of plasma membrane (GO:0009897)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)	p.P216L(2)		NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		CTGAAAGTCTGGGGGATCAAT	0.488																																					NSCLC(182;635 2928 8995 38788)	uc002fwo.3																			2	Substitution - Missense(2)		lung(2)	large_intestine(2)|breast(1)|pancreas(1)	4						c.(646-648)CCA>CTA		integrin, alpha E precursor							107.0	89.0	95.0					17																	3663533		2203	4300	6503	SO:0001583	missense	3682				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr17:3663533G>A	L25851	CCDS32531.1	17p13	2010-03-23				ENSG00000083457		"""CD molecules"", ""Integrins"""	6147	protein-coding gene	gene with protein product		604682				8119947	Standard	NM_002208		Approved	CD103, HUMINAE	uc002fwo.4	P38570		ENST00000263087.4:c.647C>T	17.37:g.3663533G>A	ENSP00000263087:p.Pro216Leu						p.P216L	NM_002208	NP_002199	P38570	ITAE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)	7	746	-			216			VWFA.|Extracellular (Potential).		Q17RS6|Q9NZU9	Missense_Mutation	SNP	ENST00000263087.4	37	c.647C>T	CCDS32531.1	.	.	.	.	.	.	.	.	.	.	G	8.284	0.816245	0.16607	.	.	ENSG00000083457	ENST00000263087	T	0.78003	-1.14	5.54	2.16	0.27623	von Willebrand factor, type A (3);	.	.	.	.	T	0.75946	0.3919	L	0.34521	1.04	0.09310	N	1	D	0.54772	0.968	P	0.55303	0.773	T	0.64867	-0.6306	9	0.25751	T	0.34	.	12.2159	0.54406	0.0:0.0:0.4274:0.5726	.	216	P38570	ITAE_HUMAN	L	216	ENSP00000263087:P216L	ENSP00000263087:P216L	P	-	2	0	ITGAE	3610282	0.010000	0.17322	0.037000	0.18230	0.771000	0.43674	1.649000	0.37281	0.784000	0.33661	-0.251000	0.11542	CCA		PASS	0.488	ITGAE-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438169.1	NM_002208		7	28	7	28	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7579414	7579414	+	Nonsense_Mutation	SNP	C	C	T			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr17:7579414C>T	ENST00000269305.4	-	4	462	c.273G>A	c.(271-273)tgG>tgA	p.W91*	TP53_ENST00000359597.4_Nonsense_Mutation_p.W91*|TP53_ENST00000445888.2_Nonsense_Mutation_p.W91*|TP53_ENST00000420246.2_Nonsense_Mutation_p.W91*|TP53_ENST00000413465.2_Nonsense_Mutation_p.W91*|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Nonsense_Mutation_p.W91*	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	91	Interaction with WWOX.		W -> C (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.W91*(13)|p.0?(8)|p.G59fs*23(3)|p.V73fs*9(1)|p.D48fs*55(1)|p.P92fs*57(1)|p.W91fs*57(1)|p.A88fs*52(1)|p.W91fs*13(1)|p.P87fs*54(1)|p.P13fs*18(1)|p.S33fs*23(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)	ATGACAGGGGCCAGGAGGGGG	0.627		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		33	Substitution - Nonsense(13)|Deletion - Frameshift(11)|Whole gene deletion(8)|Insertion - Frameshift(1)	p.W91*(11)|p.0?(7)|p.G59fs*23(3)|p.V73fs*9(1)|p.D48fs*55(1)|p.P92fs*57(1)|p.W91fs*57(1)|p.A88fs*52(1)|p.W91fs*13(1)|p.P87fs*54(1)|p.P13fs*18(1)|p.S33fs*23(1)	lung(10)|upper_aerodigestive_tract(6)|breast(4)|bone(4)|central_nervous_system(2)|urinary_tract(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)|prostate(1)|liver(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	CM065495	TP53	M		c.(271-273)TGG>TGA	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							44.0	50.0	48.0					17																	7579414		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.chr17:7579414C>T	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.273G>A	17.37:g.7579414C>T	ENSP00000269305:p.Trp91*	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.W91*|TP53_uc002gih.2_Nonsense_Mutation_p.W91*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Nonsense_Mutation_p.W91*|TP53_uc010cni.1_Nonsense_Mutation_p.W91*|TP53_uc002gij.2_Nonsense_Mutation_p.W91*|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Nonsense_Mutation_p.W52*|TP53_uc010cnk.1_Nonsense_Mutation_p.W106*	p.W91*	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	467	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	91		W -> C (in a sporadic cancer; somatic mutation).	Interaction with WWOX.		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.273G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.552604	0.86127	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	.	.	.	4.62	4.62	0.57501	.	0.425160	0.22616	N	0.057766	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-8.1711	8.8476	0.35179	0.0:0.8991:0.0:0.1009	.	.	.	.	X	91	.	ENSP00000269305:W91X	W	-	3	0	TP53	7520139	1.000000	0.71417	1.000000	0.80357	0.680000	0.39746	1.567000	0.36407	2.561000	0.86390	0.561000	0.74099	TGG		PASS	0.627	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		14	40	14	40	---	---	---	---
DNAH9	1770	broad.mit.edu	37	17	11572717	11572717	+	Missense_Mutation	SNP	A	A	G			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr17:11572717A>G	ENST00000262442.4	+	17	3027	c.2959A>G	c.(2959-2961)Aac>Gac	p.N987D	DNAH9_ENST00000454412.2_Missense_Mutation_p.N987D	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	987	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.N987D(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGATTTGGCAAACATGCGGCG	0.557																																						uc002gne.2																			1	Substitution - Missense(1)		lung(1)	skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.(2959-2961)AAC>GAC		dynein, axonemal, heavy chain 9 isoform 2							51.0	45.0	47.0					17																	11572717		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11572717A>G	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.2959A>G	17.37:g.11572717A>G	ENSP00000262442:p.Asn987Asp					DNAH9_uc010coo.2_Missense_Mutation_p.N281D	p.N987D	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	17	3027	+		Breast(5;0.0122)|all_epithelial(5;0.131)	987			Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.2959A>G	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	A	1.824	-0.471609	0.04445	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.25085	1.86;1.82	4.8	1.32	0.21799	.	0.799447	0.11853	N	0.523118	T	0.07954	0.0199	N	0.01668	-0.77	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39860	-0.9593	10	0.09338	T	0.73	.	8.2627	0.31795	0.4938:0.0:0.5062:0.0	.	987	Q9NYC9	DYH9_HUMAN	D	987	ENSP00000262442:N987D;ENSP00000414874:N987D	ENSP00000262442:N987D	N	+	1	0	DNAH9	11513442	0.107000	0.21998	0.000000	0.03702	0.010000	0.07245	1.769000	0.38522	0.027000	0.15297	0.533000	0.62120	AAC		PASS	0.557	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		3	23	3	23	---	---	---	---
LLGL1	3996	broad.mit.edu	37	17	18136004	18136004	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr17:18136004C>A	ENST00000316843.4	+	4	376	c.280C>A	c.(280-282)Ctt>Att	p.L94I		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	94					axonogenesis (GO:0007409)|cortical actin cytoskeleton organization (GO:0030866)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|maintenance of apical/basal cell polarity (GO:0035090)|positive regulation of Rab GTPase activity (GO:0032851)|protein complex assembly (GO:0006461)	cell projection (GO:0042995)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome membrane (GO:0031901)|Golgi cis cisterna (GO:0000137)|myelin sheath abaxonal region (GO:0035748)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)|structural molecule activity (GO:0005198)	p.L94I(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					CCTGTCCCTGCTTGATGACAG	0.592																																						uc002gsp.2																			1	Substitution - Missense(1)		lung(1)	breast(2)|skin(2)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)	6						c.(280-282)CTT>ATT		lethal giant larvae homolog 1							89.0	85.0	87.0					17																	18136004		2203	4300	6503	SO:0001583	missense	3996				cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity	g.chr17:18136004C>A		CCDS32586.1	17p11.2	2013-01-10	2001-11-28		ENSG00000131899	ENSG00000131899		"""WD repeat domain containing"""	6628	protein-coding gene	gene with protein product		600966	"""lethal giant larvae (Drosophila) homolog 1"""	DLG4, LLGL, HUGL, HUGL-1		7542763, 8565641	Standard	XM_005256643		Approved		uc002gsp.3	Q15334	OTTHUMG00000059396	ENST00000316843.4:c.280C>A	17.37:g.18136004C>A	ENSP00000321537:p.Leu94Ile						p.L94I	NM_004140	NP_004131	Q15334	L2GL1_HUMAN			4	341	+	all_neural(463;0.228)		94			WD 2.		A7MBM7|O00188|Q58F11|Q86UK6	Missense_Mutation	SNP	ENST00000316843.4	37	c.280C>A	CCDS32586.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.526987	0.64860	.	.	ENSG00000131899	ENST00000316843	T	0.65916	-0.18	5.33	0.897	0.19258	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.72228	0.3434	M	0.75615	2.305	0.45330	D	0.998326	D	0.69078	0.997	P	0.62740	0.906	T	0.70641	-0.4816	10	0.54805	T	0.06	-16.5766	9.7457	0.40446	0.0:0.6334:0.0:0.3666	.	94	Q15334	L2GL1_HUMAN	I	94	ENSP00000321537:L94I	ENSP00000321537:L94I	L	+	1	0	LLGL1	18076729	0.993000	0.37304	0.994000	0.49952	0.990000	0.78478	0.403000	0.20982	0.034000	0.15491	0.585000	0.79938	CTT		PASS	0.592	LLGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132067.3			7	61	7	61	---	---	---	---
FOXN1	8456	broad.mit.edu	37	17	26851655	26851655	+	Silent	SNP	C	C	T			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr17:26851655C>T	ENST00000226247.2	+	2	287	c.258C>T	c.(256-258)ccC>ccT	p.P86P	FOXN1_ENST00000579795.1_Silent_p.P86P	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	86					defense response (GO:0006952)|epidermis development (GO:0008544)|epithelial cell proliferation (GO:0050673)|hair follicle development (GO:0001942)|keratinocyte differentiation (GO:0030216)|lymphocyte homeostasis (GO:0002260)|nail development (GO:0035878)|organ morphogenesis (GO:0009887)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P86P(1)		endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					CAGCCGGCCCCGGCCCTGGGC	0.687																																						uc010crm.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(256-258)CCC>CCT		forkhead box N1							24.0	28.0	27.0					17																	26851655		2201	4299	6500	SO:0001819	synonymous_variant	8456				defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus 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.chr17:26851655C>T	Y11739	CCDS11232.1	17q11-q12	2014-09-17	2003-06-12	2003-06-13	ENSG00000109101	ENSG00000109101		"""Forkhead boxes"""	12765	protein-coding gene	gene with protein product		600838	"""winged-helix nude"", ""Rowett nude"""	WHN, RONU		9321431	Standard	NM_003593		Approved	FKHL20	uc002hbj.3	O15353	OTTHUMG00000132603	ENST00000226247.2:c.258C>T	17.37:g.26851655C>T						FOXN1_uc002hbj.2_Silent_p.P86P	p.P86P	NM_003593	NP_003584	O15353	FOXN1_HUMAN			3	456	+	Lung NSC(42;0.00431)		86					B2R9Q7|O15352	Silent	SNP	ENST00000226247.2	37	c.258C>T	CCDS11232.1																																																																																				PASS	0.687	FOXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255832.1			9	27	9	27	---	---	---	---
CDK5R1	8851	broad.mit.edu	37	17	30815095	30815095	+	Missense_Mutation	SNP	C	C	G			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr17:30815095C>G	ENST00000313401.3	+	2	1146	c.457C>G	c.(457-459)Cgc>Ggc	p.R153G		NM_003885.2	NP_003876.1	Q15078	CD5R1_HUMAN	cyclin-dependent kinase 5, regulatory subunit 1 (p35)	153					axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|brain development (GO:0007420)|cell proliferation (GO:0008283)|cerebellum development (GO:0021549)|embryo development (GO:0009790)|ephrin receptor signaling pathway (GO:0048013)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|hippocampus development (GO:0021766)|ionotropic glutamate receptor signaling pathway (GO:0035235)|layer formation in cerebral cortex (GO:0021819)|negative regulation of axon extension (GO:0030517)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein targeting to membrane (GO:0090314)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of neuron differentiation (GO:0045664)|rhythmic process (GO:0048511)|serine phosphorylation of STAT3 protein (GO:0033136)|superior olivary nucleus maturation (GO:0021722)	axon (GO:0030424)|contractile fiber (GO:0043292)|cyclin-dependent protein kinase 5 holoenzyme complex (GO:0016533)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	cadherin binding (GO:0045296)|calcium ion binding (GO:0005509)|cyclin-dependent protein kinase 5 activator activity (GO:0016534)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activator activity (GO:0043539)	p.R153G(1)		cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.0938)			TGAGCTGCTTCGCTGCCTGGG	0.682																																						uc002hhn.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(457-459)CGC>GGC		cyclin-dependent kinase 5, regulatory subunit 1							44.0	45.0	45.0					17																	30815095		2203	4300	6503	SO:0001583	missense	8851				axon guidance|axonal fasciculation|brain development|cell proliferation|embryo development|ionotropic glutamate receptor signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of transcription, DNA-dependent|neuron cell-cell adhesion|neuron migration|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of neuron apoptosis|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation	axon|contractile fiber|cyclin-dependent protein kinase 5 holoenzyme complex|cytosol|dendritic spine|growth cone|neuromuscular junction|neuronal cell body|perinuclear region of cytoplasm|plasma membrane	cadherin binding|calcium ion binding|protein kinase binding	g.chr17:30815095C>G	X80343	CCDS11273.1	17q12	2006-03-28			ENSG00000176749	ENSG00000176749			1775	protein-coding gene	gene with protein product		603460				8090221	Standard	NM_003885		Approved	p35nck5a, Nck5a	uc002hhn.3	Q15078	OTTHUMG00000132814	ENST00000313401.3:c.457C>G	17.37:g.30815095C>G	ENSP00000318486:p.Arg153Gly					CDK5R1_uc010wca.1_Missense_Mutation_p.R153G|CDK5R1_uc010ctc.2_5'UTR	p.R153G	NM_003885	NP_003876	Q15078	CD5R1_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0938)		2	678	+		Breast(31;0.159)|Ovarian(249;0.182)	153					E1P664|Q5U0G3	Missense_Mutation	SNP	ENST00000313401.3	37	c.457C>G	CCDS11273.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.965453	0.74131	.	.	ENSG00000176749	ENST00000313401	T	0.80738	-1.41	5.55	5.55	0.83447	Cyclin-like (2);	0.000000	0.85682	D	0.000000	D	0.84817	0.5556	M	0.76574	2.34	0.58432	D	0.999999	D	0.54772	0.968	P	0.52424	0.698	D	0.86535	0.1824	10	0.87932	D	0	-21.4374	12.0084	0.53272	0.1727:0.8273:0.0:0.0	.	153	Q15078	CD5R1_HUMAN	G	153	ENSP00000318486:R153G	ENSP00000318486:R153G	R	+	1	0	CDK5R1	27839208	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.866000	0.48420	2.609000	0.88269	0.557000	0.71058	CGC		PASS	0.682	CDK5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256264.1	NM_003885		4	57	4	57	---	---	---	---
GRN	2896	broad.mit.edu	37	17	42426621	42426621	+	Missense_Mutation	SNP	G	G	A			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr17:42426621G>A	ENST00000053867.3	+	2	151	c.89G>A	c.(88-90)tGc>tAc	p.C30Y	GRN_ENST00000589265.1_Missense_Mutation_p.C30Y	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN	granulin	30					blastocyst hatching (GO:0001835)|cell death (GO:0008219)|embryo implantation (GO:0007566)|positive regulation of epithelial cell proliferation (GO:0050679)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)	growth factor activity (GO:0008083)|poly(A) RNA binding (GO:0044822)	p.C30Y(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CCTGTGGCCTGCTGCCTGGAC	0.647																																						uc002igp.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)|skin(1)	5						c.(88-90)TGC>TAC		granulin precursor							64.0	52.0	56.0					17																	42426621		2203	4300	6503	SO:0001583	missense	2896				signal transduction	extracellular space	cytokine activity|growth factor activity	g.chr17:42426621G>A	M75161	CCDS11483.1	17q21.32	2014-09-17				ENSG00000030582			4601	protein-coding gene	gene with protein product	"""progranulin"""	138945				1417868, 9826678	Standard	XM_005257253		Approved	PCDGF, PGRN, CLN11	uc002igp.1	P28799		ENST00000053867.3:c.89G>A	17.37:g.42426621G>A	ENSP00000053867:p.Cys30Tyr					GRN_uc002igq.1_Missense_Mutation_p.C30Y|GRN_uc002igr.1_5'Flank	p.C30Y	NM_002087	NP_002078	P28799	GRN_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.189)	2	308	+		Prostate(33;0.0181)	30					D3DX55|P23781|P23782|P23783|P23784|Q53HQ8|Q53Y88|Q540U8|Q9BWE7|Q9H8S1|Q9UCH0	Missense_Mutation	SNP	ENST00000053867.3	37	c.89G>A	CCDS11483.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.003794	0.74932	.	.	ENSG00000030582	ENST00000053867;ENST00000357351	T	0.79554	-1.28	4.68	4.68	0.58851	.	0.000000	0.64402	D	0.000014	D	0.86522	0.5953	L	0.54323	1.7	0.31880	N	0.61863	B;D	0.89917	0.001;1.0	B;D	0.91635	0.0;0.999	D	0.87557	0.2469	10	0.62326	D	0.03	-16.5256	13.4582	0.61212	0.0:0.0:1.0:0.0	.	30;30	B4E1G5;P28799	.;GRN_HUMAN	Y	30	ENSP00000053867:C30Y	ENSP00000053867:C30Y	C	+	2	0	GRN	39782147	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.579000	0.53900	2.319000	0.78375	0.457000	0.33378	TGC		PASS	0.647	GRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457766.1	NM_002087		3	42	3	42	---	---	---	---
SCN4A	6329	broad.mit.edu	37	17	62036723	62036723	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr17:62036723C>A	ENST00000435607.1	-	12	1997	c.1921G>T	c.(1921-1923)Ggt>Tgt	p.G641C	SCN4A_ENST00000578147.1_Missense_Mutation_p.G641C	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	641					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.G641C(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ATATTCCAACCCTGCTGGAAA	0.557																																						uc002jds.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(1921-1923)GGT>TGT		voltage-gated sodium channel type 4 alpha	Lamotrigine(DB00555)						85.0	88.0	87.0					17																	62036723		2093	4237	6330	SO:0001583	missense	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62036723C>A	U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.1921G>T	17.37:g.62036723C>A	ENSP00000396320:p.Gly641Cys						p.G641C	NM_000334	NP_000325	P35499	SCN4A_HUMAN			12	1998	-			641			Helical; Name=S3 of repeat II; (Potential).|II.		Q15478|Q16447|Q7Z6B1	Missense_Mutation	SNP	ENST00000435607.1	37	c.1921G>T	CCDS45761.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.406141	0.83230	.	.	ENSG00000007314	ENST00000435607	D	0.98531	-4.98	4.74	4.74	0.60224	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99083	0.9685	M	0.90369	3.11	0.58432	D	0.999997	D	0.89917	1.0	D	0.81914	0.995	D	0.99445	1.0939	10	0.87932	D	0	.	16.9521	0.86248	0.0:1.0:0.0:0.0	.	641	P35499	SCN4A_HUMAN	C	641	ENSP00000396320:G641C	ENSP00000396320:G641C	G	-	1	0	SCN4A	59390455	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.571000	0.82399	2.481000	0.83766	0.556000	0.70494	GGT		PASS	0.557	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		4	21	4	21	---	---	---	---
H3F3B	3021	broad.mit.edu	37	17	73775177	73775177	+	Missense_Mutation	SNP	T	T	C			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr17:73775177T>C	ENST00000254810.4	-	2	211	c.79A>G	c.(79-81)Agg>Ggg	p.R27G	H3F3B_ENST00000589599.1_Missense_Mutation_p.R27G|H3F3B_ENST00000591890.1_Missense_Mutation_p.R27G|H3F3B_ENST00000587560.1_Missense_Mutation_p.R27G|H3F3B_ENST00000593254.1_Intron|H3F3B_ENST00000586607.1_Missense_Mutation_p.R27G|H3F3B_ENST00000592643.1_Missense_Mutation_p.R27G	NM_005324.3	NP_005315.1	P84243	H33_HUMAN	H3 histone, family 3B (H3.3B)	27					blood coagulation (GO:0007596)|brain development (GO:0007420)|DNA replication-independent nucleosome assembly (GO:0006336)|positive regulation of cell growth (GO:0030307)|response to hormone (GO:0009725)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nuclear nucleosome (GO:0000788)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	nucleosomal DNA binding (GO:0031492)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)	p.R27G(1)		large_intestine(1)|lung(4)|ovary(2)|skin(1)	8	all_cancers(13;1.5e-07)		all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCGCTTTTCCTGGCGGCTTTC	0.622											OREG0024740	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002jpl.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(79-81)AGG>GGG		H3 histone, family 3B							26.0	29.0	28.0					17																	73775177		2203	4300	6503	SO:0001583	missense	3021				blood coagulation|nucleosome assembly	nucleoplasm|nucleosome	DNA binding	g.chr17:73775177T>C	Z48950	CCDS11729.1	17q25.1	2011-06-01			ENSG00000132475	ENSG00000132475		"""Histones / Replication-independent"""	4765	protein-coding gene	gene with protein product		601058				8586426	Standard	NM_005324		Approved	H3.3B	uc002jpl.3	P84243		ENST00000254810.4:c.79A>G	17.37:g.73775177T>C	ENSP00000254810:p.Arg27Gly		OREG0024740	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1147		p.R27G	NM_005324	NP_005315	P84243	H33_HUMAN	all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)		2	212	-	all_cancers(13;1.5e-07)		27					P06351|P33155|Q5VV55|Q5VV56|Q66I33|Q9V3W4	Missense_Mutation	SNP	ENST00000254810.4	37	c.79A>G	CCDS11729.1	.	.	.	.	.	.	.	.	.	.	T	9.189	1.025668	0.19512	.	.	ENSG00000132475	ENST00000254810	T	0.38240	1.15	5.08	-10.2	0.00374	.	0.000000	0.47852	U	0.000206	T	0.49795	0.1578	L	0.57536	1.79	0.29191	N	0.875842	.	.	.	.	.	.	T	0.64402	-0.6416	8	0.87932	D	0	.	28.8001	0.99999	0.0:0.0:0.8513:0.1487	.	.	.	.	G	27	ENSP00000254810:R27G	ENSP00000254810:R27G	R	-	1	2	H3F3B	71286772	0.903000	0.30736	0.137000	0.22149	0.985000	0.73830	-0.094000	0.11094	-2.098000	0.00850	-0.313000	0.08912	AGG		PASS	0.622	H3F3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448499.1	NM_005324		5	19	5	19	---	---	---	---
ZNF521	25925	broad.mit.edu	37	18	22669518	22669518	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr18:22669518G>T	ENST00000361524.3	-	7	3965	c.3817C>A	c.(3817-3819)Cag>Aag	p.Q1273K	ZNF521_ENST00000538137.2_Missense_Mutation_p.Q1273K|ZNF521_ENST00000584787.1_Missense_Mutation_p.Q1053K	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	1273					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)	p.Q1273K(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					AAAATATGCTGCTGCAACTTG	0.398			T	PAX5	ALL																																	uc002kvk.2				Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(2)|lung(1)	7						c.(3817-3819)CAG>AAG		zinc finger protein 521							168.0	154.0	158.0					18																	22669518		2203	4300	6503	SO:0001583	missense	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22669518G>T	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.3817C>A	18.37:g.22669518G>T	ENSP00000354794:p.Gln1273Lys					ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.Q1273K|ZNF521_uc002kvl.2_Missense_Mutation_p.Q1053K	p.Q1273K	NM_015461	NP_056276	Q96K83	ZN521_HUMAN			7	4064	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		1273			C2H2-type 29.		A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	c.3817C>A	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	G	17.57	3.423191	0.62733	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T	0.27720	1.65	5.79	5.79	0.91817	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.64402	D	0.000003	T	0.34600	0.0903	N	0.05078	-0.115	0.51233	D	0.999916	D	0.58620	0.983	D	0.79784	0.993	T	0.27020	-1.0086	10	0.12103	T	0.63	-27.6312	20.0132	0.97467	0.0:0.0:1.0:0.0	.	1273	Q96K83	ZN521_HUMAN	K	1273;1307;1273	ENSP00000354794:Q1273K	ENSP00000354794:Q1273K	Q	-	1	0	ZNF521	20923516	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.471000	0.97696	2.708000	0.92522	0.650000	0.86243	CAG		PASS	0.398	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		10	57	10	57	---	---	---	---
DSG4	147409	broad.mit.edu	37	18	28993227	28993228	+	Missense_Mutation	DNP	CC	CC	AG			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr18:28993227_28993228CC>AG	ENST00000308128.4	+	16	2927_2928	c.2792_2793CC>AG	c.(2791-2793)cCC>cAG	p.P931Q	RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000359747.4_Missense_Mutation_p.P950Q|RP11-534N16.1_ENST00000578477.1_RNA	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	931					anagen (GO:0042640)|BMP signaling pathway (GO:0030509)|homophilic cell adhesion (GO:0007156)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P931H(1)|p.P950Q(1)|p.P950P(1)|p.P950H(1)|p.P931P(1)|p.P931Q(1)		NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CAGCTTGCACCCAATGTTGTAG	0.416																																						uc002kwq.2																			6	Substitution - Missense(4)|Substitution - coding silent(2)		lung(6)	central_nervous_system(5)|ovary(3)	8						c.(2791-2793)CCC>CAC|c.(2791-2793)CCC>CCG		desmoglein 4 isoform 2 preproprotein																																				SO:0001583	missense	147409				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28993227C>A|g.chr18:28993228C>G	AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"""Cadherins / Major cadherins"""	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	Exception_encountered	18.37:g.28993227_28993228delinsAG	ENSP00000311859:p.Pro931Gln					DSG4_uc002kwr.2_Missense_Mutation_p.P950H|DSG4_uc002kwr.2_Silent_p.P950P	p.P931H|p.P931P	NM_177986	NP_817123	Q86SJ6	DSG4_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		16	2927|2928	+			931			Cytoplasmic (Potential).|Desmoglein repeat 2.		A2RUI1|Q6Y9L9|Q8IXV4	Missense_Mutation|Silent	SNP	ENST00000308128.4	37	c.2792C>A|c.2793C>G	CCDS11897.1																																																																																				PASS	0.416	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254941.1	NM_177986		28	124|128	28	124	---	---	---	---
DSG2	1829	broad.mit.edu	37	18	29126518	29126518	+	Silent	SNP	C	C	T			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr18:29126518C>T	ENST00000261590.8	+	15	3378	c.3169C>T	c.(3169-3171)Ctg>Ttg	p.L1057L	RP11-75N4.2_ENST00000583706.1_RNA	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	1057					apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|regulation of heart rate by cardiac conduction (GO:0086091)|response to progesterone (GO:0032570)|ventricular cardiac muscle cell action potential (GO:0086005)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L1057L(1)		breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			TGCTTCCACTCTGCAATCCAG	0.517																																						uc002kwu.3																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(5)|ovary(2)|breast(1)|skin(1)	9						c.(3169-3171)CTG>TTG		desmoglein 2 preproprotein							86.0	86.0	86.0					18																	29126518		1955	4158	6113	SO:0001819	synonymous_variant	1829				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:29126518C>T	Z26317	CCDS42423.1	18q12.1	2014-09-17				ENSG00000046604		"""Cadherins / Major cadherins"""	3049	protein-coding gene	gene with protein product		125671				1612610	Standard	NM_001943		Approved	CDHF5	uc002kwu.4	Q14126		ENST00000261590.8:c.3169C>T	18.37:g.29126518C>T						uc002kwv.3_Intron	p.L1057L	NM_001943	NP_001934	Q14126	DSG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0068)		15	3357	+			1057			Cytoplasmic (Potential).		Q4KKU6	Silent	SNP	ENST00000261590.8	37	c.3169C>T	CCDS42423.1																																																																																				PASS	0.517	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447506.1	NM_001943		7	64	7	64	---	---	---	---
DCC	1630	broad.mit.edu	37	18	50705330	50705330	+	Splice_Site	SNP	A	A	T	rs34244428		TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr18:50705330A>T	ENST00000442544.2	+	9	2034		c.e9-1		DCC_ENST00000412726.1_Splice_Site|DCC_ENST00000581580.1_Splice_Site	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor						anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)	p.?(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TTGATTTCTCAGGGAACGAGC	0.438																																						uc002lfe.1																			1	Unknown(1)		lung(1)	skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17						c.e9-2		netrin receptor DCC precursor							84.0	77.0	79.0					18																	50705330		2203	4300	6503	SO:0001630	splice_region_variant	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50705330A>T	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.1419-1A>T	18.37:g.50705330A>T						DCC_uc010xdr.1_Splice_Site_p.R321_splice|DCC_uc010dpf.1_Splice_Site_p.R128_splice	p.R473_splice	NM_005215	NP_005206	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	9	2006	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)							Splice_Site	SNP	ENST00000442544.2	37	c.1419_splice	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.557094	0.86231	.	.	ENSG00000187323	ENST00000442544;ENST00000304775;ENST00000412726	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0981	0.72250	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DCC	48959328	1.000000	0.71417	0.996000	0.52242	0.944000	0.59088	8.504000	0.90512	2.266000	0.75297	0.533000	0.62120	.		PASS	0.438	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215	Intron	4	27	4	27	---	---	---	---
C18orf54	162681	broad.mit.edu	37	18	51887006	51887006	+	Missense_Mutation	SNP	G	G	C			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr18:51887006G>C	ENST00000300091.5	+	2	396	c.64G>C	c.(64-66)Gca>Cca	p.A22P	C18orf54_ENST00000382911.4_Missense_Mutation_p.A22P|STARD6_ENST00000577499.1_5'Flank|STARD6_ENST00000581310.1_5'Flank|STARD6_ENST00000584040.1_5'Flank|C18orf54_ENST00000578138.1_Intron	NM_173529.4	NP_775800.3	Q8IYD9	LAS2_HUMAN	chromosome 18 open reading frame 54	22						extracellular region (GO:0005576)		p.A22P(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15				Colorectal(16;0.0206)|READ - Rectum adenocarcinoma(59;0.186)		TGCCCTGCTGGCAAGCTGCAC	0.418																																						uc002lfn.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(64-66)GCA>CCA		hypothetical protein LOC162681 precursor							122.0	109.0	114.0					18																	51887006		2203	4300	6503	SO:0001583	missense	162681					extracellular region		g.chr18:51887006G>C	AK126503	CCDS11956.1, CCDS74223.1	18q21	2012-10-24			ENSG00000166845	ENSG00000166845			13796	protein-coding gene	gene with protein product	"""lung adenoma susceptibility protein 2"""	613258					Standard	XM_005258201		Approved	MGC33382, LAS2	uc031rij.1	Q8IYD9	OTTHUMG00000132703	ENST00000300091.5:c.64G>C	18.37:g.51887006G>C	ENSP00000300091:p.Ala22Pro					C18orf54_uc002lfo.3_Missense_Mutation_p.A22P	p.A22P	NM_173529	NP_775800	Q8IYD9	CR054_HUMAN		Colorectal(16;0.0206)|READ - Rectum adenocarcinoma(59;0.186)	2	180	+			22					I7HFJ6|Q6MZU3|Q6ZTL6	Missense_Mutation	SNP	ENST00000300091.5	37	c.64G>C	CCDS11956.1	.	.	.	.	.	.	.	.	.	.	G	15.79	2.936428	0.52972	.	.	ENSG00000166845	ENST00000300091;ENST00000382911	T;T	0.32753	1.44;1.44	5.24	3.34	0.38264	.	0.224098	0.34750	N	0.003714	T	0.48295	0.1492	M	0.72894	2.215	0.24479	N	0.994358	D;D	0.76494	0.999;0.997	D;D	0.64410	0.925;0.925	T	0.27297	-1.0078	10	0.72032	D	0.01	.	9.9083	0.41390	0.0795:0.0:0.7795:0.141	.	22;22	Q8IYD9-2;Q8IYD9	.;CR054_HUMAN	P	22	ENSP00000300091:A22P;ENSP00000372368:A22P	ENSP00000300091:A22P	A	+	1	0	C18orf54	50141004	1.000000	0.71417	0.986000	0.45419	0.261000	0.26267	1.574000	0.36482	2.445000	0.82738	0.655000	0.94253	GCA		PASS	0.418	C18orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256001.1	NM_173529		17	71	17	71	---	---	---	---
KDSR	2531	broad.mit.edu	37	18	61022457	61022457	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr18:61022457G>T	ENST00000406396.3	-	5	788	c.397C>A	c.(397-399)Ctt>Att	p.L133I	KDSR_ENST00000326575.5_Missense_Mutation_p.L133I	NM_002035.2	NP_002026.1	Q06136	KDSR_HUMAN	3-ketodihydrosphingosine reductase	133					3-keto-sphinganine metabolic process (GO:0006666)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3-dehydrosphinganine reductase activity (GO:0047560)	p.L133I(1)		endometrium(2)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	9						CTAACTTCAAGATCTTCAAAT	0.413																																						uc010dpw.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(397-399)CTT>ATT		3-ketodihydrosphingosine reductase precursor							130.0	127.0	128.0					18																	61022457		2203	4300	6503	SO:0001583	missense	2531				3-keto-sphinganine metabolic process	endoplasmic reticulum membrane|extracellular space|integral to membrane	3-dehydrosphinganine reductase activity|binding	g.chr18:61022457G>T		CCDS11982.1	18q21	2011-09-20	2008-02-20	2008-02-20	ENSG00000119537	ENSG00000119537	1.1.1.102	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	4021	protein-coding gene	gene with protein product	"""3-dehydrosphinganine reductase"", ""short chain dehydrogenase/reductase family 35C, member 1"""	136440	"""follicular lymphoma variant translocation 1"""	FVT1		8417785, 15328338, 17420465, 19027726	Standard	NM_002035		Approved	DHSR, SDR35C1	uc010dpw.3	Q06136	OTTHUMG00000132792	ENST00000406396.3:c.397C>A	18.37:g.61022457G>T	ENSP00000385083:p.Leu133Ile					KDSR_uc010xem.1_Missense_Mutation_p.L133I	p.L133I	NM_002035	NP_002026	Q06136	KDSR_HUMAN			5	552	-			133			Cytoplasmic (Potential).		B2R5Y1|B4DMX0	Missense_Mutation	SNP	ENST00000406396.3	37	c.397C>A	CCDS11982.1	.	.	.	.	.	.	.	.	.	.	G	5.068	0.198143	0.09652	.	.	ENSG00000119537	ENST00000406396;ENST00000326575	D;D	0.89050	-2.46;-2.46	5.73	4.84	0.62591	NAD(P)-binding domain (1);	0.308549	0.38111	N	0.001811	T	0.80497	0.4634	N	0.21324	0.655	0.53688	D	0.999972	B;B	0.11235	0.002;0.004	B;B	0.14578	0.011;0.011	T	0.74182	-0.3748	10	0.36615	T	0.2	.	9.4224	0.38559	0.0:0.1169:0.6061:0.277	.	133;133	B4DMX0;Q06136	.;KDSR_HUMAN	I	133	ENSP00000385083:L133I;ENSP00000312939:L133I	ENSP00000312939:L133I	L	-	1	0	KDSR	59173437	0.936000	0.31750	0.932000	0.37286	0.991000	0.79684	1.595000	0.36708	1.384000	0.46424	0.655000	0.94253	CTT		PASS	0.413	KDSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256200.2			21	71	21	71	---	---	---	---
RBFA	79863	broad.mit.edu	37	18	77794645	77794645	+	Silent	SNP	G	G	C			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr18:77794645G>C	ENST00000306735.5	+	1	288	c.150G>C	c.(148-150)tcG>tcC	p.S50S	RBFA_ENST00000262197.7_Silent_p.S50S|RP11-795F19.5_ENST00000569722.1_Silent_p.S50S|TXNL4A_ENST00000592957.1_5'Flank|TXNL4A_ENST00000589926.1_5'Flank|RBFA_ENST00000586847.1_3'UTR|TXNL4A_ENST00000585474.1_5'Flank	NM_024805.2	NP_079081.2	Q8N0V3	RBFA_HUMAN	ribosome binding factor A (putative)	50					rRNA processing (GO:0006364)	mitochondrion (GO:0005739)		p.S50S(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						AATTTGCCTCGAAAACCAAGT	0.632																																						uc002lns.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(148-150)TCG>TCC		hypothetical protein LOC79863 precursor							31.0	36.0	34.0					18																	77794645		2202	4300	6502	SO:0001819	synonymous_variant	79863				rRNA processing	mitochondrion		g.chr18:77794645G>C	BC014195	CCDS12021.1, CCDS54194.1	18q23	2010-10-21	2010-10-21	2010-10-21	ENSG00000101546	ENSG00000101546			26120	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 22"""	C18orf22		12477932	Standard	NM_024805		Approved	FLJ21172, HsT169	uc002lns.3	Q8N0V3	OTTHUMG00000132923	ENST00000306735.5:c.150G>C	18.37:g.77794645G>C						TXNL4A_uc010drg.2_5'Flank|C18orf22_uc010drh.2_Silent_p.S50S|C18orf22_uc010dri.1_RNA	p.S50S	NM_024805	NP_079081	Q8N0V3	RBFA_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;6.46e-08)|BRCA - Breast invasive adenocarcinoma(31;0.00376)	1	288	+		all_cancers(4;3.21e-14)|all_epithelial(4;7.11e-09)|all_lung(4;0.00366)|Lung NSC(4;0.00683)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0545)|all_hematologic(56;0.15)|Melanoma(33;0.2)	50					Q6PF07|Q8WZ65|Q9H776	Silent	SNP	ENST00000306735.5	37	c.150G>C	CCDS12021.1																																																																																				PASS	0.632	RBFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256436.2	NM_024805		4	55	4	55	---	---	---	---
THEG	51298	broad.mit.edu	37	19	372678	372678	+	Missense_Mutation	SNP	T	T	A			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr19:372678T>A	ENST00000342640.4	-	5	630	c.588A>T	c.(586-588)gaA>gaT	p.E196D	THEG_ENST00000346878.2_Missense_Mutation_p.E172D	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	196					cell differentiation (GO:0030154)|chaperone-mediated protein complex assembly (GO:0051131)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)		p.E196D(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCGAGACAGTTCCTCCACGC	0.552																																						uc002lol.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(586-588)GAA>GAT		Theg homolog isoform 1							142.0	119.0	127.0					19																	372678		2203	4300	6503	SO:0001583	missense	51298				cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding	g.chr19:372678T>A	AF268610	CCDS12025.1, CCDS12026.1	19p13.3	2012-02-24	2012-02-24		ENSG00000105549	ENSG00000105549			13706	protein-coding gene	gene with protein product	"""cancer/testis antigen 56"""	609503	"""Theg homolog (mouse)"""			11173852	Standard	NM_016585		Approved	CT56, THEG1	uc002lol.3	Q9P2T0	OTTHUMG00000165491	ENST00000342640.4:c.588A>T	19.37:g.372678T>A	ENSP00000340088:p.Glu196Asp					THEG_uc002lom.2_Missense_Mutation_p.E172D	p.E196D	NM_016585	NP_057669	Q9P2T0	THEG_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	5	627	-		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	196			THEG 2.		A6NMJ8	Missense_Mutation	SNP	ENST00000342640.4	37	c.588A>T	CCDS12025.1	.	.	.	.	.	.	.	.	.	.	T	16.00	2.997867	0.54147	.	.	ENSG00000105549	ENST00000342640;ENST00000346878	T;T	0.20200	2.09;2.16	3.31	-5.16	0.02857	.	1.026890	0.07714	N	0.942519	T	0.34803	0.0910	L	0.55834	1.745	0.25468	N	0.987854	D;D	0.71674	0.996;0.998	D;D	0.77557	0.986;0.99	T	0.39522	-0.9610	10	0.44086	T	0.13	-18.1924	9.4466	0.38701	0.0:0.3177:0.0:0.6823	.	172;196	Q9P2T0-2;Q9P2T0	.;THEG_HUMAN	D	196;172	ENSP00000340088:E196D;ENSP00000264820:E172D	ENSP00000340088:E196D	E	-	3	2	THEG	323678	0.825000	0.29262	0.499000	0.27577	0.713000	0.41058	-1.033000	0.03571	-0.926000	0.03770	-0.411000	0.06167	GAA		PASS	0.552	THEG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384431.2			4	40	4	40	---	---	---	---
PLIN5	440503	broad.mit.edu	37	19	4529157	4529157	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr19:4529157C>A	ENST00000381848.3	-	5	528	c.448G>T	c.(448-450)Gct>Tct	p.A150S	CTB-50L17.14_ENST00000586020.1_3'UTR	NM_001013706.2	NP_001013728.2	Q00G26	PLIN5_HUMAN	perilipin 5	150	Essential for lipid droplet targeting. {ECO:0000250}.				lipid particle organization (GO:0034389)|lipid storage (GO:0019915)|mitochondrion localization (GO:0051646)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of lipase activity (GO:0060192)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of triglyceride catabolic process (GO:0010897)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of lipase activity (GO:0060193)|positive regulation of lipid storage (GO:0010884)|positive regulation of sequestering of triglyceride (GO:0010890)|positive regulation of triglyceride biosynthetic process (GO:0010867)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)		p.A150S(1)		endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						ACATCCACAGCATGGCTCACG	0.627																																						uc002mas.2																			1	Substitution - Missense(1)		lung(1)		0						c.(448-450)GCT>TCT		lipid storage droplet protein 5							84.0	92.0	89.0					19																	4529157		2076	4199	6275	SO:0001583	missense	440503					lipid particle		g.chr19:4529157C>A	DQ839131	CCDS42473.1	19p13.3	2009-08-12			ENSG00000214456	ENSG00000214456		"""Perilipins"""	33196	protein-coding gene	gene with protein product	"""lipid storage droplet protein 5"""	613248				17234449, 19638644	Standard	NM_001013706		Approved	LSDP5, LSDA5, OXPAT, MLDP	uc002mas.3	Q00G26		ENST00000381848.3:c.448G>T	19.37:g.4529157C>A	ENSP00000371272:p.Ala150Ser					PLIN5_uc002mat.1_3'UTR	p.A150S	NM_001013706	NP_001013728	Q00G26	PLIN5_HUMAN			5	501	-			150					A2RRC1|Q6ZS68	Missense_Mutation	SNP	ENST00000381848.3	37	c.448G>T	CCDS42473.1	.	.	.	.	.	.	.	.	.	.	.	12.51	1.958390	0.34565	.	.	ENSG00000214456	ENST00000381848	T	0.06218	3.33	4.83	4.83	0.62350	.	0.079584	0.49916	U	0.000130	T	0.06371	0.0164	L	0.27053	0.805	0.36823	D	0.886507	B	0.33883	0.43	B	0.35859	0.212	T	0.41928	-0.9481	10	0.42905	T	0.14	-14.03	13.401	0.60883	0.0:1.0:0.0:0.0	.	150	Q00G26	PLIN5_HUMAN	S	150	ENSP00000371272:A150S	ENSP00000371272:A150S	A	-	1	0	PLIN5	4480157	0.558000	0.26554	0.854000	0.33618	0.035000	0.12851	2.781000	0.47750	2.252000	0.74401	0.561000	0.74099	GCT		PASS	0.627	PLIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458647.1	NM_001013706		8	135	8	135	---	---	---	---
C3	718	broad.mit.edu	37	19	6707815	6707815	+	Missense_Mutation	SNP	C	C	G			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr19:6707815C>G	ENST00000245907.6	-	15	2063	c.1971G>C	c.(1969-1971)agG>agC	p.R657S		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	657					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)	p.R657S(1)		breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	CCTCACCTGCCCTCTGGGCGG	0.667																																						uc002mfm.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)|pancreas(1)	5						c.(1969-1971)AGG>AGC		complement component 3 precursor							54.0	57.0	56.0					19																	6707815		2203	4299	6502	SO:0001583	missense	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6707815C>G	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.1971G>C	19.37:g.6707815C>G	ENSP00000245907:p.Arg657Ser						p.R657S	NM_000064	NP_000055	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	15	2033	-			657					A7E236	Missense_Mutation	SNP	ENST00000245907.6	37	c.1971G>C	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	C	16.52	3.146853	0.57151	.	.	ENSG00000125730	ENST00000245907	T	0.34275	1.37	4.83	1.48	0.22813	.	0.330039	0.31370	N	0.007775	T	0.48714	0.1515	M	0.75447	2.3	0.30988	N	0.721727	D	0.54964	0.969	P	0.58620	0.842	T	0.52480	-0.8570	10	0.48119	T	0.1	.	7.3369	0.26615	0.0:0.5317:0.0:0.4683	.	657	P01024	CO3_HUMAN	S	657	ENSP00000245907:R657S	ENSP00000245907:R657S	R	-	3	2	C3	6658815	0.055000	0.20627	0.015000	0.15790	0.012000	0.07955	0.283000	0.18846	0.108000	0.17862	-0.888000	0.02935	AGG		PASS	0.667	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		5	78	5	78	---	---	---	---
ZNF763	284390	broad.mit.edu	37	19	12089452	12089452	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr19:12089452G>T	ENST00000358987.3	+	4	840	c.713G>T	c.(712-714)aGt>aTt	p.S238I	ZNF763_ENST00000343949.5_Missense_Mutation_p.S241I|ZNF763_ENST00000590798.1_Missense_Mutation_p.S258I|ZNF763_ENST00000538752.1_Missense_Mutation_p.S258I|ZNF763_ENST00000545530.1_Missense_Mutation_p.S116I			Q0D2J5	ZN763_HUMAN	zinc finger protein 763	238					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S240I(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)	15						AAATCCTTTAGTTATTCTGCT	0.378																																						uc002msw.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(712-714)AGT>ATT		zinc finger protein 763							62.0	64.0	63.0					19																	12089452		2203	4300	6503	SO:0001583	missense	284390				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12089452G>T	AK092240	CCDS45982.1	19p13.2	2014-02-12	2006-08-14		ENSG00000197054	ENSG00000197054		"""Zinc fingers, C2H2-type"", ""-"""	27614	protein-coding gene	gene with protein product							Standard	NM_001012753		Approved	ZNF440L		Q0D2J5	OTTHUMG00000156430	ENST00000358987.3:c.713G>T	19.37:g.12089452G>T	ENSP00000402017:p.Ser238Ile					ZNF763_uc010xmf.1_Missense_Mutation_p.S258I|ZNF763_uc002msv.2_Missense_Mutation_p.S241I|ZNF763_uc010xmg.1_Missense_Mutation_p.S116I	p.S238I	NM_001012753	NP_001012771	Q0D2J5	ZN763_HUMAN			4	868	+			238			C2H2-type 4.		B3KRU3|B4DRE7	Missense_Mutation	SNP	ENST00000358987.3	37	c.713G>T		.	.	.	.	.	.	.	.	.	.	g	6.194	0.404046	0.11754	.	.	ENSG00000197054	ENST00000538752;ENST00000343949;ENST00000545530;ENST00000358987	T;T;T;T	0.19938	2.11;2.11;2.11;2.11	1.65	-1.3	0.09259	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.23727	0.0574	L	0.49513	1.565	0.09310	N	1	P;D;B	0.56968	0.915;0.978;0.19	P;P;B	0.49752	0.494;0.621;0.065	T	0.20940	-1.0260	9	0.32370	T	0.25	.	9.4873	0.38937	0.0:0.6639:0.3361:0.0	.	258;238;241	F5H0A9;Q0D2J5;Q0D2J5-2	.;ZN763_HUMAN;.	I	258;241;116;238	ENSP00000438117:S258I;ENSP00000369774:S241I;ENSP00000446166:S116I;ENSP00000402017:S238I	ENSP00000369774:S241I	S	+	2	0	ZNF763	11950452	0.000000	0.05858	0.002000	0.10522	0.036000	0.12997	-3.645000	0.00405	-0.459000	0.07013	-0.987000	0.02553	AGT		PASS	0.378	ZNF763-002	KNOWN	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000344158.1	NM_001012753		6	55	6	55	---	---	---	---
ZNF98	148198	broad.mit.edu	37	19	22574667	22574667	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr19:22574667G>T	ENST00000357774.5	-	4	1491	c.1370C>A	c.(1369-1371)aCt>aAt	p.T457N		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	457					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.T457N(2)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				TTTCTCTCCAGTATGAATTAT	0.373																																						uc002nqt.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(1369-1371)ACT>AAT		zinc finger protein 98							22.0	22.0	22.0					19																	22574667		1683	3787	5470	SO:0001583	missense	148198				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22574667G>T		CCDS46031.1	19p12	2014-02-14	2010-04-20	2008-06-12	ENSG00000197360	ENSG00000197360		"""Zinc fingers, C2H2-type"", ""-"""	13174	protein-coding gene	gene with protein product	"""zinc finger protein 739"""	603980					Standard	NM_001098626		Approved	ZNF739, F7175	uc002nqt.2	A6NK75	OTTHUMG00000182940	ENST00000357774.5:c.1370C>A	19.37:g.22574667G>T	ENSP00000350418:p.Thr457Asn						p.T457N	NM_001098626	NP_001092096	A6NK75	ZNF98_HUMAN			4	1492	-		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)	457						Missense_Mutation	SNP	ENST00000357774.5	37	c.1370C>A	CCDS46031.1	.	.	.	.	.	.	.	.	.	.	.	14.46	2.543368	0.45280	.	.	ENSG00000197360	ENST00000357774	T	0.26067	1.76	1.26	-0.077	0.13720	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.41581	0.1165	M	0.68317	2.08	0.29895	N	0.824904	P	0.52577	0.954	D	0.66497	0.944	T	0.36768	-0.9734	9	0.66056	D	0.02	.	6.3829	0.21544	0.1872:0.0:0.8128:0.0	.	457	A6NK75	ZNF98_HUMAN	N	457	ENSP00000350418:T457N	ENSP00000350418:T457N	T	-	2	0	ZNF98	22366507	0.979000	0.34478	0.016000	0.15963	0.603000	0.37013	1.943000	0.40253	-0.157000	0.11059	0.289000	0.19496	ACT		PASS	0.373	ZNF98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464398.1	NM_001098626		3	76	3	76	---	---	---	---
FCGBP	8857	broad.mit.edu	37	19	40367871	40367871	+	Silent	SNP	T	T	G			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr19:40367871T>G	ENST00000221347.6	-	29	13096	c.13089A>C	c.(13087-13089)ccA>ccC	p.P4363P		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4363	TIL 10.					extracellular vesicular exosome (GO:0070062)		p.P4363P(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CTGGGCAGGGTGGGCCACAGA	0.622																																						uc002omp.3																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(4)|central_nervous_system(1)	9						c.(13087-13089)CCA>CCC		Fc fragment of IgG binding protein precursor							29.0	46.0	40.0					19																	40367871		2172	4068	6240	SO:0001819	synonymous_variant	8857					extracellular region	protein binding	g.chr19:40367871T>G	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.13089A>C	19.37:g.40367871T>G							p.P4363P	NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		29	13097	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		4363			TIL 10.		O95784	Silent	SNP	ENST00000221347.6	37	c.13089A>C	CCDS12546.1																																																																																				PASS	0.622	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		6	21	6	21	---	---	---	---
PNKP	11284	broad.mit.edu	37	19	50370414	50370414	+	Silent	SNP	A	A	G			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr19:50370414A>G	ENST00000322344.3	-	2	157	c.48T>C	c.(46-48)ccT>ccC	p.P16P	PNKP_ENST00000595792.1_5'UTR|PNKP_ENST00000600573.1_Silent_p.P16P|PNKP_ENST00000600910.1_Silent_p.P16P|PNKP_ENST00000596014.1_Silent_p.P16P	NM_007254.3	NP_009185.2	Q96T60	PNKP_HUMAN	polynucleotide kinase 3'-phosphatase	16	FHA.				dephosphorylation (GO:0016311)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide phosphorylation (GO:0046939)|nucleotide-excision repair, DNA damage removal (GO:0000718)|polynucleotide 3' dephosphorylation (GO:0098506)|response to oxidative stress (GO:0006979)|response to radiation (GO:0009314)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|endonuclease activity (GO:0004519)|nucleotide kinase activity (GO:0019201)|polynucleotide 3'-phosphatase activity (GO:0046403)|purine nucleotide binding (GO:0017076)	p.P16P(8)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		GCGCTCCCCCAGGGGGGCTCT	0.721								Other BER factors																														uc002pqh.2																			8	Substitution - coding silent(8)		lung(6)|urinary_tract(2)	ovary(1)|kidney(1)	2						c.(46-48)CCT>CCC	Other_BER_factors	polynucleotide kinase 3' phosphatase							10.0	13.0	12.0					19																	50370414		2073	4105	6178	SO:0001819	synonymous_variant	11284				DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation	nucleolus	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding	g.chr19:50370414A>G	AF126486	CCDS12783.1	19q13.3-q13.4	2008-02-05				ENSG00000039650			9154	protein-coding gene	gene with protein product		605610				10446192, 10446193	Standard	NM_007254		Approved	PNK	uc002pqj.3	Q96T60		ENST00000322344.3:c.48T>C	19.37:g.50370414A>G						PNKP_uc002pqg.2_5'Flank|PNKP_uc002pqi.2_5'UTR|PNKP_uc002pqj.2_Silent_p.P16P|PNKP_uc010enm.2_Silent_p.P16P|PNKP_uc002pqk.2_Silent_p.P16P	p.P16P	NM_007254	NP_009185	Q96T60	PNKP_HUMAN		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)	1	100	-		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	16					Q9BUL2|Q9P1V2|Q9UKU8|Q9UNF8|Q9UNI0	Silent	SNP	ENST00000322344.3	37	c.48T>C	CCDS12783.1																																																																																				PASS	0.721	PNKP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465830.1	NM_007254		6	30	6	30	---	---	---	---
PEG3	5178	broad.mit.edu	37	19	57328547	57328547	+	Silent	SNP	C	C	T			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr19:57328547C>T	ENST00000326441.9	-	10	1626	c.1263G>A	c.(1261-1263)gaG>gaA	p.E421E	ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000423103.2_Silent_p.E421E|PEG3_ENST00000593695.1_Silent_p.E295E|PEG3_ENST00000598410.1_Silent_p.E297E|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	421					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.E421E(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)		CTTTTCTCATCTCACTACCAC	0.493																																						uc002qnu.2																			2	Substitution - coding silent(2)		lung(2)	ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(1261-1263)GAG>GAA		paternally expressed 3 isoform 1							150.0	148.0	148.0					19																	57328547		2203	4300	6503	SO:0001819	synonymous_variant	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57328547C>T	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.1263G>A	19.37:g.57328547C>T						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_Silent_p.E392E|PEG3_uc002qnv.2_Silent_p.E421E|PEG3_uc002qnw.2_Silent_p.E297E|PEG3_uc002qnx.2_Silent_p.E295E|PEG3_uc010etr.2_Silent_p.E421E	p.E421E	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	7	1614	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	421					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Silent	SNP	ENST00000326441.9	37	c.1263G>A	CCDS12948.1																																																																																				PASS	0.493	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			18	106	18	106	---	---	---	---
IDH3B	3420	broad.mit.edu	37	20	2641562	2641562	+	Missense_Mutation	SNP	G	G	A			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr20:2641562G>A	ENST00000380843.4	-	5	421	c.391C>T	c.(391-393)Cgg>Tgg	p.R131W	IDH3B_ENST00000488299.1_5'UTR|IDH3B_ENST00000380851.5_Missense_Mutation_p.R131W	NM_006899.3	NP_008830.2	O43837	IDH3B_HUMAN	isocitrate dehydrogenase 3 (NAD+) beta	131					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|isocitrate metabolic process (GO:0006102)|NADH metabolic process (GO:0006734)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|isocitrate dehydrogenase (NAD+) activity (GO:0004449)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)	p.R131W(1)		breast(1)|endometrium(3)|kidney(2)|lung(7)|prostate(1)	14						TACCTCAGCCGCATATCATAG	0.567																																						uc002wgp.2																			1	Substitution - Missense(1)		lung(1)		0						c.(391-393)CGG>TGG		isocitrate dehydrogenase 3, beta subunit isoform	NADH(DB00157)						125.0	122.0	123.0					20																	2641562		2203	4300	6503	SO:0001583	missense	3420				isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	electron carrier activity|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding	g.chr20:2641562G>A		CCDS13031.1, CCDS13032.1, CCDS74696.1	20p13	2013-02-14			ENSG00000101365	ENSG00000101365	1.1.1.41		5385	protein-coding gene	gene with protein product		604526				10575215	Standard	NM_006899		Approved	RP46	uc002wgp.4	O43837	OTTHUMG00000031699	ENST00000380843.4:c.391C>T	20.37:g.2641562G>A	ENSP00000370223:p.Arg131Trp					IDH3B_uc002wgq.2_Missense_Mutation_p.R131W|IDH3B_uc002wgr.2_5'UTR|IDH3B_uc010zpz.1_Missense_Mutation_p.R131W	p.R131W	NM_006899	NP_008830	O43837	IDH3B_HUMAN			5	400	-			131					B2RDR1|D3DVX2|D3DVX3|O95106|Q5JXS8|Q9NQ06|Q9NQ07|Q9NUZ0|Q9UEX0|Q9UG99	Missense_Mutation	SNP	ENST00000380843.4	37	c.391C>T	CCDS13032.1	.	.	.	.	.	.	.	.	.	.	G	17.88	3.496745	0.64186	.	.	ENSG00000101365	ENST00000380851;ENST00000380843;ENST00000341825	T;T	0.69561	-0.41;-0.41	5.91	2.82	0.32997	Isopropylmalate dehydrogenase-like domain (2);	0.155759	0.56097	D	0.000031	T	0.79446	0.4447	M	0.83774	2.66	0.80722	D	1	P;D	0.69078	0.949;0.997	P;P	0.60345	0.655;0.873	T	0.81178	-0.1051	10	0.66056	D	0.02	-11.614	13.3641	0.60674	0.0:0.0:0.5468:0.4532	.	131;131	O43837-2;O43837	.;IDH3B_HUMAN	W	131	ENSP00000370232:R131W;ENSP00000370223:R131W	ENSP00000343215:R131W	R	-	1	2	IDH3B	2589562	1.000000	0.71417	0.922000	0.36590	0.966000	0.64601	0.806000	0.27126	0.343000	0.23821	-0.169000	0.13324	CGG		PASS	0.567	IDH3B-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077613.1			3	58	3	58	---	---	---	---
SIGLEC1	6614	broad.mit.edu	37	20	3677499	3677499	+	Missense_Mutation	SNP	T	T	C			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr20:3677499T>C	ENST00000344754.4	-	10	2416	c.2417A>G	c.(2416-2418)gAc>gGc	p.D806G	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.D806G	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	806	Ig-like C2-type 8.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.D806G(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						CTGGCCCATGTCTAGGAGGGC	0.622																																						uc002wja.2																			1	Substitution - Missense(1)		lung(1)	pancreas(4)|ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	10						c.(2416-2418)GAC>GGC		sialoadhesin precursor							35.0	32.0	33.0					20																	3677499		2203	4300	6503	SO:0001583	missense	6614				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr20:3677499T>C	AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	11127	protein-coding gene	gene with protein product		600751	"""sialoadhesin"""	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.2417A>G	20.37:g.3677499T>C	ENSP00000341141:p.Asp806Gly					SIGLEC1_uc002wiz.3_Missense_Mutation_p.D806G	p.D806G	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN			10	2417	-			806			Ig-like C2-type 8.|Extracellular (Potential).		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	ENST00000344754.4	37	c.2417A>G	CCDS13060.1	.	.	.	.	.	.	.	.	.	.	T	14.81	2.647584	0.47258	.	.	ENSG00000088827	ENST00000344754;ENST00000202578	T;T	0.25579	1.83;1.79	5.1	5.1	0.69264	Immunoglobulin subtype (1);Immunoglobulin-like (1);	0.000000	0.43579	D	0.000541	T	0.45236	0.1332	M	0.64997	1.995	0.40973	D	0.984711	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.31251	-0.9950	10	0.23302	T	0.38	.	12.8911	0.58071	0.0:0.0:0.0:1.0	.	806;806	Q9BZZ2;Q9BZZ2-3	SN_HUMAN;.	G	806	ENSP00000341141:D806G;ENSP00000202578:D806G	ENSP00000202578:D806G	D	-	2	0	SIGLEC1	3625499	0.996000	0.38824	0.933000	0.37362	0.027000	0.11550	3.109000	0.50345	2.152000	0.67230	0.533000	0.62120	GAC		PASS	0.622	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068		3	32	3	32	---	---	---	---
MKKS	8195	broad.mit.edu	37	20	10389284	10389284	+	Missense_Mutation	SNP	C	C	T			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr20:10389284C>T	ENST00000347364.3	-	4	1915	c.1153G>A	c.(1153-1155)Gag>Aag	p.E385K	MKKS_ENST00000399054.2_Missense_Mutation_p.E385K	NM_170784.2	NP_740754.1	Q9NPJ1	MKKS_HUMAN	McKusick-Kaufman syndrome	385					artery smooth muscle contraction (GO:0014824)|brain morphogenesis (GO:0048854)|cartilage development (GO:0051216)|cerebral cortex development (GO:0021987)|chaperone-mediated protein complex assembly (GO:0051131)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|determination of left/right symmetry (GO:0007368)|fat cell differentiation (GO:0045444)|gonad development (GO:0008406)|heart development (GO:0007507)|heart looping (GO:0001947)|hippocampus development (GO:0021766)|intracellular transport (GO:0046907)|melanosome transport (GO:0032402)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of multicellular organism growth (GO:0040018)|protein folding (GO:0006457)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|sensory perception of smell (GO:0007608)|social behavior (GO:0035176)|spermatid development (GO:0007286)|striatum development (GO:0021756)|vasodilation (GO:0042311)|visual perception (GO:0007601)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|motile cilium (GO:0031514)	ATP binding (GO:0005524)|RNA polymerase II repressing transcription factor binding (GO:0001103)|unfolded protein binding (GO:0051082)	p.E385K(1)		kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|stomach(2)	16						ACCTTCAGCTCATCCCAGGCA	0.388																																					Melanoma(79;1979 2212 6640)	uc002wnt.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1153-1155)GAG>AAG		McKusick-Kaufman syndrome protein							79.0	74.0	75.0					20																	10389284		2203	4300	6503	SO:0001583	missense	8195	Bardet-Biedl_syndrome			brain morphogenesis|cerebral cortex development|convergent extension involved in gastrulation|detection of mechanical stimulus involved in sensory perception of sound|fat cell differentiation|flagellum assembly|gonad development|heart looping|hippocampus development|intracellular transport|melanosome transport|photoreceptor cell maintenance|pigment granule aggregation in cell center|protein folding|regulation of cilium beat frequency involved in ciliary motility|sensory perception of smell|social behavior|spermatid development|striatum development	cytosol|microtubule organizing center|motile cilium	ATP binding|unfolded protein binding	g.chr20:10389284C>T	AF221993	CCDS13111.1	20p12	2013-01-08			ENSG00000125863	ENSG00000125863		"""Heat Shock Proteins / Chaperonins"""	7108	protein-coding gene	gene with protein product		604896		BBS6		9467007	Standard	NR_072977		Approved		uc002wnu.2	Q9NPJ1	OTTHUMG00000031868	ENST00000347364.3:c.1153G>A	20.37:g.10389284C>T	ENSP00000246062:p.Glu385Lys					MKKS_uc002wnu.1_Missense_Mutation_p.E385K|MKKS_uc010zrd.1_RNA	p.E385K	NM_018848	NP_061336	Q9NPJ1	MKKS_HUMAN			4	2040	-			385					A8K7B0|D3DW18	Missense_Mutation	SNP	ENST00000347364.3	37	c.1153G>A	CCDS13111.1	.	.	.	.	.	.	.	.	.	.	C	35	5.520946	0.96416	.	.	ENSG00000125863	ENST00000347364;ENST00000399054	D;D	0.90844	-2.74;-2.74	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	D	0.95245	0.8458	M	0.77616	2.38	0.80722	D	1	D	0.61697	0.99	D	0.63381	0.914	D	0.94917	0.8070	10	0.87932	D	0	-23.8608	20.5948	0.99439	0.0:1.0:0.0:0.0	.	385	Q9NPJ1	MKKS_HUMAN	K	385	ENSP00000246062:E385K;ENSP00000382008:E385K	ENSP00000246062:E385K	E	-	1	0	MKKS	10337284	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	7.298000	0.78815	2.873000	0.98535	0.563000	0.77884	GAG		PASS	0.388	MKKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077991.3			4	56	4	56	---	---	---	---
SEL1L2	80343	broad.mit.edu	37	20	13856732	13856732	+	Silent	SNP	C	C	T			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr20:13856732C>T	ENST00000284951.5	-	12	1130	c.1056G>A	c.(1054-1056)ccG>ccA	p.P352P	SEL1L2_ENST00000378072.5_Silent_p.P352P|SEL1L2_ENST00000486903.1_5'UTR			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	352						integral component of membrane (GO:0016021)		p.P352P(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						CGTTATTTTGCGGCACGGCAG	0.348																																						uc010gcf.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1054-1056)CCG>CCA		sel-1 suppressor of lin-12-like 2 precursor							173.0	165.0	168.0					20																	13856732		1915	4123	6038	SO:0001819	synonymous_variant	80343					integral to membrane	binding	g.chr20:13856732C>T	AL137678	CCDS59443.1	20p12.1	2011-03-31	2006-11-24	2006-11-24	ENSG00000101251	ENSG00000101251			15897	protein-coding gene	gene with protein product		614289	"""chromosome 20 open reading frame 50"""	C20orf50			Standard	NM_001271539		Approved	DKFZp434C1826	uc010zrl.3	Q5TEA6	OTTHUMG00000031910	ENST00000284951.5:c.1056G>A	20.37:g.13856732C>T						SEL1L2_uc002woq.3_Silent_p.P213P|SEL1L2_uc010zrl.1_Silent_p.P352P|SEL1L2_uc002wor.2_RNA	p.P352P	NM_025229	NP_079505	Q5TEA6	SE1L2_HUMAN			12	1138	-			352			Extracellular (Potential).|Sel1-like 6.		B4DXX5	Silent	SNP	ENST00000284951.5	37	c.1056G>A																																																																																					PASS	0.348	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078067.3	NM_025229		9	116	9	116	---	---	---	---
SEMG2	6407	broad.mit.edu	37	20	43850411	43850411	+	Silent	SNP	G	G	A			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr20:43850411G>A	ENST00000372769.3	+	2	228	c.138G>A	c.(136-138)caG>caA	p.Q46Q		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	46					sexual reproduction (GO:0019953)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)	p.Q46Q(1)		autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				AAAAGGGCCAGCACTATTTTG	0.388																																						uc010ggz.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(136-138)CAG>CAA		semenogelin II precursor							116.0	112.0	113.0					20																	43850411		2203	4300	6503	SO:0001819	synonymous_variant	6407				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity	g.chr20:43850411G>A		CCDS13346.1	20q12-q13.1	2008-07-02			ENSG00000124157	ENSG00000124157			10743	protein-coding gene	gene with protein product	"""Semenogelin 2"""	182141				1517240, 9523691	Standard	NM_003008		Approved	SGII	uc002xnk.3	Q02383	OTTHUMG00000032566	ENST00000372769.3:c.138G>A	20.37:g.43850411G>A						SEMG2_uc002xnk.2_Silent_p.Q46Q|SEMG2_uc002xnl.2_Silent_p.Q46Q	p.Q46Q	NM_003008	NP_002999	Q02383	SEMG2_HUMAN			2	195	+		Myeloproliferative disorder(115;0.0122)	46					Q53ZU2|Q6X2M5|Q6X2M6	Silent	SNP	ENST00000372769.3	37	c.138G>A	CCDS13346.1																																																																																				PASS	0.388	SEMG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079417.1	NM_003008		6	88	6	88	---	---	---	---
ZFP64	55734	broad.mit.edu	37	20	50769200	50769200	+	Missense_Mutation	SNP	T	T	A			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr20:50769200T>A	ENST00000216923.4	-	6	1880	c.1531A>T	c.(1531-1533)Atc>Ttc	p.I511F	ZFP64_ENST00000371515.4_Missense_Mutation_p.I509F|ZFP64_ENST00000346617.4_Missense_Mutation_p.I457F|ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000371518.2_Intron	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	511					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.I511F(2)		breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						GCCTGGACGATGGTGTTCGCC	0.647																																						uc002xwl.2																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(1531-1533)ATC>TTC		zinc finger protein 64 isoform a							23.0	26.0	25.0					20																	50769200		2202	4300	6502	SO:0001583	missense	55734				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50769200T>A	AK001596	CCDS13439.1, CCDS13440.1, CCDS13441.1, CCDS13442.1	20q13.11-q13.13	2013-01-08	2012-11-27		ENSG00000020256	ENSG00000020256		"""Zinc fingers, C2H2-type"""	15940	protein-coding gene	gene with protein product			"""zinc finger protein 338"", ""zinc finger protein 64 homolog (mouse)"", ""zinc finger protein 64"""	ZNF338		9034307	Standard	NM_199427		Approved	FLJ10734, dJ831D17.1, FLJ12628, dJ548G19.1	uc002xwl.3	Q9NPA5	OTTHUMG00000032756	ENST00000216923.4:c.1531A>T	20.37:g.50769200T>A	ENSP00000216923:p.Ile511Phe					ZFP64_uc002xwk.2_Intron|ZFP64_uc002xwm.2_Missense_Mutation_p.I509F|ZFP64_uc002xwn.2_Missense_Mutation_p.I457F	p.I511F	NM_018197	NP_060667	Q9NPA5	ZF64A_HUMAN			6	1880	-			511					Q9NTS7|Q9NVH4	Missense_Mutation	SNP	ENST00000216923.4	37	c.1531A>T	CCDS13440.1	.	.	.	.	.	.	.	.	.	.	T	0.920	-0.716212	0.03206	.	.	ENSG00000020256	ENST00000216923;ENST00000346617;ENST00000371515;ENST00000546083	T;T;T	0.08458	3.09;3.16;3.13	5.57	3.27	0.37495	.	0.191151	0.35903	N	0.002914	T	0.04452	0.0122	N	0.19112	0.55	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.003;0.001;0.001	T	0.39035	-0.9633	10	0.33940	T	0.23	-17.5672	2.1887	0.03893	0.1271:0.1431:0.1322:0.5976	.	457;509;511	Q9NPA5-2;Q5JWM1;Q9NPA5	.;.;ZF64A_HUMAN	F	511;457;509;353	ENSP00000216923:I511F;ENSP00000344615:I457F;ENSP00000360570:I509F	ENSP00000216923:I511F	I	-	1	0	ZFP64	50202607	0.968000	0.33430	0.756000	0.31282	0.001000	0.01503	0.538000	0.23160	0.379000	0.24794	-0.336000	0.08194	ATC		PASS	0.647	ZFP64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079744.1	NM_018197		3	27	3	27	---	---	---	---
ZNF217	7764	broad.mit.edu	37	20	52199112	52199112	+	Missense_Mutation	SNP	A	A	G	rs201521105		TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr20:52199112A>G	ENST00000371471.2	-	2	679	c.254T>C	c.(253-255)tTa>tCa	p.L85S	ZNF217_ENST00000540425.1_5'Flank|ZNF217_ENST00000302342.3_Missense_Mutation_p.L85S			O75362	ZN217_HUMAN	zinc finger protein 217	85					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.L85S(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			GTGTTGCATTAAGACATGTTT	0.458													A|||	1	0.000199681	0.0	0.0014	5008	,	,		20908	0.0		0.0	False		,,,				2504	0.0					uc002xwq.3																			2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)|large_intestine(1)|lung(1)|breast(1)	6						c.(253-255)TTA>TCA		zinc finger protein 217							139.0	136.0	137.0					20																	52199112		2203	4300	6503	SO:0001583	missense	7764				negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr20:52199112A>G	AF041259	CCDS13443.1	20q13.2	2013-01-08			ENSG00000171940	ENSG00000171940		"""Zinc fingers, C2H2-type"""	13009	protein-coding gene	gene with protein product		602967				9671742	Standard	NM_006526		Approved	ZABC1	uc002xwq.4	O75362	OTTHUMG00000032764	ENST00000371471.2:c.254T>C	20.37:g.52199112A>G	ENSP00000360526:p.Leu85Ser					ZNF217_uc010gij.1_Missense_Mutation_p.L77S	p.L85S	NM_006526	NP_006517	O75362	ZN217_HUMAN	BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)		1	525	-	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		85			C2H2-type 1.		E1P5Y6|Q14DB8	Missense_Mutation	SNP	ENST00000371471.2	37	c.254T>C	CCDS13443.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	A	12.92	2.083330	0.36758	.	.	ENSG00000171940	ENST00000371471;ENST00000302342;ENST00000431687	T;T	0.09350	2.99;2.99	5.79	5.79	0.91817	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.64402	D	0.000020	T	0.29620	0.0739	L	0.59436	1.845	0.09310	N	0.999995	D	0.89917	1.0	D	0.97110	1.0	T	0.09122	-1.0689	10	0.36615	T	0.2	-18.7018	15.7969	0.78420	1.0:0.0:0.0:0.0	.	85	O75362	ZN217_HUMAN	S	85	ENSP00000360526:L85S;ENSP00000304308:L85S	ENSP00000304308:L85S	L	-	2	0	ZNF217	51632519	0.882000	0.30256	0.003000	0.11579	0.112000	0.19704	7.108000	0.77055	2.207000	0.71202	0.533000	0.62120	TTA		PASS	0.458	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079757.2	NM_006526		24	134	24	134	---	---	---	---
CECR2	27443	broad.mit.edu	37	22	17956717	17956717	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr22:17956717G>T	ENST00000400573.5	+	2	155	c.148G>T	c.(148-150)Gat>Tat	p.D50Y	CECR2_ENST00000262608.8_Missense_Mutation_p.D31Y|CECR2_ENST00000400585.2_5'UTR|CECR2_ENST00000497534.1_3'UTR|CECR2_ENST00000342247.5_Missense_Mutation_p.D30Y			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	72					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)		p.D50Y(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		TCAACGAAGAGATATCACGTG	0.463																																						uc010gqw.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(88-90)GAT>TAT		cat eye syndrome chromosome region, candidate 2							112.0	108.0	109.0					22																	17956717		1930	4137	6067	SO:0001583	missense	27443				chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding	g.chr22:17956717G>T	AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400573.5:c.148G>T	22.37:g.17956717G>T	ENSP00000383417:p.Asp50Tyr					CECR2_uc010gqv.1_5'UTR|CECR2_uc002zml.2_5'UTR	p.D30Y	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN		Lung(27;0.146)	1	214	+		all_epithelial(15;0.139)	72					A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Missense_Mutation	SNP	ENST00000400573.5	37	c.88G>T		.	.	.	.	.	.	.	.	.	.	G	17.11	3.304634	0.60305	.	.	ENSG00000099954	ENST00000342247;ENST00000400573;ENST00000262608	T;T;T	0.50813	0.73;0.73;0.73	6.08	6.08	0.98989	.	0.000000	0.36778	U	0.002419	T	0.66906	0.2837	L	0.52126	1.63	0.58432	D	0.999997	D	0.89917	1.0	D	0.87578	0.998	T	0.65813	-0.6077	10	0.87932	D	0	-8.0522	20.6721	0.99693	0.0:0.0:1.0:0.0	.	72	Q9BXF3	CECR2_HUMAN	Y	30;50;31	ENSP00000341219:D30Y;ENSP00000383417:D50Y;ENSP00000262608:D31Y	ENSP00000262608:D31Y	D	+	1	0	CECR2	16336717	1.000000	0.71417	1.000000	0.80357	0.229000	0.25112	6.778000	0.75043	2.894000	0.99253	0.591000	0.81541	GAT		PASS	0.463	CECR2-001	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000316104.5	NM_031413		3	32	3	32	---	---	---	---
ZDHHC8	29801	broad.mit.edu	37	22	20126807	20126807	+	Silent	SNP	C	C	T	rs529792584		TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr22:20126807C>T	ENST00000334554.7	+	2	336	c.195C>T	c.(193-195)gcC>gcT	p.A65A	ZDHHC8_ENST00000320602.7_Silent_p.A65A|ZDHHC8_ENST00000405930.3_Silent_p.A65A|ZDHHC8_ENST00000468112.1_Intron	NM_013373.3	NP_037505.1	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC-type containing 8	65					locomotory behavior (GO:0007626)|protein palmitoylation (GO:0018345)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.A65A(1)		breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					TCAGCATGGCCACTTTCATGG	0.562																																						uc002zrq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(193-195)GCC>GCT		zinc finger, DHHC domain containing 8							185.0	157.0	167.0					22																	20126807		2203	4300	6503	SO:0001819	synonymous_variant	29801					cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding	g.chr22:20126807C>T	AB033118	CCDS13776.1, CCDS54502.1	22q11.21	2009-10-06		2003-02-28	ENSG00000099904	ENSG00000099904		"""Zinc fingers, DHHC-type"""	18474	protein-coding gene	gene with protein product		608784				10574462, 15184899	Standard	NM_013373		Approved	ZNF378, KIAA1292	uc002zrr.2	Q9ULC8	OTTHUMG00000150499	ENST00000334554.7:c.195C>T	22.37:g.20126807C>T						ZDHHC8_uc002zrr.1_Silent_p.A65A|ZDHHC8_uc010gsa.2_5'Flank	p.A65A	NM_013373	NP_037505	Q9ULC8	ZDHC8_HUMAN			2	301	+	Colorectal(54;0.0993)		65			Helical; (Potential).		Q2TGE9|Q6ICL1|Q6ZNF5|Q7Z6L9	Silent	SNP	ENST00000334554.7	37	c.195C>T	CCDS13776.1																																																																																				PASS	0.562	ZDHHC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318564.1	NM_013373		9	105	9	105	---	---	---	---
KCNJ4	3761	broad.mit.edu	37	22	38824079	38824079	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr22:38824079C>A	ENST00000303592.3	-	2	317	c.59G>T	c.(58-60)cGc>cTc	p.R20L	RP3-434P1.6_ENST00000433230.1_RNA	NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	KCNJ4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	20					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|PDZ domain binding (GO:0030165)	p.R20L(1)		endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					CTTGACGAAGCGGTTGCGGCG	0.642																																						uc003avs.1																			1	Substitution - Missense(1)		lung(1)		0						c.(58-60)CGC>CTC		potassium inwardly-rectifying channel J4							277.0	232.0	247.0					22																	38824079		2203	4300	6503	SO:0001583	missense	3761				synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding	g.chr22:38824079C>A	U07364	CCDS13971.1	22q13.1	2011-07-05			ENSG00000168135	ENSG00000168135		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6265	protein-coding gene	gene with protein product		600504				8016146, 16382105	Standard	NM_152868		Approved	Kir2.3, HIR, HRK1, hIRK2, IRK3	uc003avs.1	P48050	OTTHUMG00000151131	ENST00000303592.3:c.59G>T	22.37:g.38824079C>A	ENSP00000306497:p.Arg20Leu					KCNJ4_uc003avt.1_Missense_Mutation_p.R20L	p.R20L	NM_004981	NP_004972	P48050	IRK4_HUMAN			2	156	-	Melanoma(58;0.0286)		20			Cytoplasmic (By similarity).		Q14D44	Missense_Mutation	SNP	ENST00000303592.3	37	c.59G>T	CCDS13971.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.540176	0.85917	.	.	ENSG00000168135	ENST00000303592	D	0.96365	-3.99	4.4	4.4	0.53042	.	0.000000	0.85682	D	0.000000	D	0.98473	0.9491	M	0.92268	3.29	0.58432	D	0.999999	D	0.67145	0.996	D	0.70227	0.968	D	0.99761	1.1021	10	0.72032	D	0.01	.	17.4411	0.87565	0.0:1.0:0.0:0.0	.	20	P48050	IRK4_HUMAN	L	20	ENSP00000306497:R20L	ENSP00000306497:R20L	R	-	2	0	KCNJ4	37154025	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.784000	0.85713	2.182000	0.69389	0.555000	0.69702	CGC		PASS	0.642	KCNJ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321447.1	NM_004981		69	326	69	326	---	---	---	---
CSF2RA	1438	broad.mit.edu	37	X	1424412	1424412	+	Missense_Mutation	SNP	G	G	C			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chrX:1424412G>C	ENST00000381524.3	+	12	1303	c.1117G>C	c.(1117-1119)Gaa>Caa	p.E373Q	CSF2RA_ENST00000381500.1_3'UTR|CSF2RA_ENST00000498153.1_3'UTR|CSF2RA_ENST00000417535.2_Missense_Mutation_p.E407Q|CSF2RA_ENST00000432318.2_Missense_Mutation_p.E373Q|CSF2RA_ENST00000361536.3_3'UTR|CSF2RA_ENST00000381529.3_Missense_Mutation_p.E373Q|CSF2RA_ENST00000381509.3_Missense_Mutation_p.E373Q|CSF2RA_ENST00000355805.2_3'UTR|CSF2RA_ENST00000501036.2_Missense_Mutation_p.E240Q|CSF2RA_ENST00000355432.3_Intron|CSF2RA_ENST00000494969.2_Intron			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	373					response to ethanol (GO:0045471)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)	p.E373Q(2)		central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	CCATGAGGTGGAAGACGAGGT	0.557																																					Esophageal Squamous(131;723 1707 25334 40494 41806)	uc010nct.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1117-1119)GAA>CAA		colony stimulating factor 2 receptor alpha chain	Sargramostim(DB00020)						178.0	159.0	166.0					X																	1424412		2203	4296	6499	SO:0001583	missense	1438					extracellular region|integral to plasma membrane	cytokine receptor activity	g.chrX:1424412G>C	M64445	CCDS35190.1, CCDS35191.1, CCDS35192.1, CCDS35193.1, CCDS55359.1, CCDS55360.1, CCDS55361.1	Xp22.32 and Yp11.3	2014-09-17			ENSG00000198223	ENSG00000198223		"""CD molecules"", ""Pseudoautosomal regions / PAR1"""	2435	protein-coding gene	gene with protein product		306250, 425000		CSF2R		1702217	Standard	NM_006140		Approved	CD116	uc010ncv.2	P15509	OTTHUMG00000012533	ENST00000381524.3:c.1117G>C	X.37:g.1424412G>C	ENSP00000370935:p.Glu373Gln					CSF2RA_uc011mhb.1_Missense_Mutation_p.E373Q|CSF2RA_uc004cpq.2_3'UTR|CSF2RA_uc004cpn.2_Missense_Mutation_p.E373Q|CSF2RA_uc004cpo.2_Missense_Mutation_p.E373Q|CSF2RA_uc010ncu.2_RNA|CSF2RA_uc011mhc.1_Missense_Mutation_p.E240Q|CSF2RA_uc004cpp.2_Intron|CSF2RA_uc010ncv.2_Missense_Mutation_p.E407Q|CSF2RA_uc004cpr.2_3'UTR	p.E373Q	NM_001161529	NP_001155001	P15509	CSF2R_HUMAN			13	1439	+		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)	373			Cytoplasmic (Potential).		A7J003|A8KAM1|B4DW68|J3JS76|J3JS77|O00207|Q14429|Q14430|Q14431|Q16564	Missense_Mutation	SNP	ENST00000381524.3	37	c.1117G>C	CCDS35191.1	.	.	.	.	.	.	.	.	.	.	.	6.008	0.369801	0.11352	.	.	ENSG00000198223	ENST00000381529;ENST00000432318;ENST00000501036;ENST00000381524;ENST00000381509;ENST00000417535	T;T;T;T;D;T	0.94376	1.55;1.55;1.55;1.55;-3.41;1.55	0.598	0.598	0.17512	.	2.595370	0.03099	U	0.160885	D	0.91466	0.7306	.	.	.	0.09310	N	1	D;P;P	0.56968	0.978;0.92;0.791	P;B;B	0.47528	0.549;0.444;0.264	T	0.82420	-0.0466	8	0.34782	T	0.22	.	.	.	.	.	373;407;373	P15509-2;A7J003;P15509	.;.;CSF2R_HUMAN	Q	373;373;240;373;373;407	ENSP00000370940:E373Q;ENSP00000416437:E373Q;ENSP00000440491:E240Q;ENSP00000370935:E373Q;ENSP00000370920:E373Q;ENSP00000394227:E407Q	ENSP00000370920:E373Q	E	+	1	0	CSF2RA	1384412	0.002000	0.14202	0.004000	0.12327	0.164000	0.22412	1.192000	0.32150	0.594000	0.29761	0.110000	0.15639	GAA		PASS	0.557	CSF2RA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000035013.2			8	73	8	73	---	---	---	---
PPEF1	5475	broad.mit.edu	37	X	18822079	18822080	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chrX:18822079_18822080GG>TT	ENST00000361511.4	+	14	1629_1630	c.1135_1136GG>TT	c.(1135-1137)GGc>TTc	p.G379F	PPEF1_ENST00000544635.1_Missense_Mutation_p.G314F|PPEF1_ENST00000349874.5_Intron|PPEF1_ENST00000543630.1_Intron|PPEF1_ENST00000359763.6_Missense_Mutation_p.G326F	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	379	Catalytic.				detection of stimulus involved in sensory perception (GO:0050906)|phototransduction, visible light (GO:0007603)|protein dephosphorylation (GO:0006470)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)	p.G379F(1)|p.G379C(1)|p.G379V(1)		breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					CCGAGGAGGGGGCTGCTATTTT	0.421																																						uc004cyq.2																			3	Substitution - Missense(3)		lung(3)		0						c.(1135-1137)GGC>TGC|c.(1135-1137)GGC>GTC		protein phosphatase with EF hand calcium-binding																																				SO:0001583	missense	5475				detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity	g.chrX:18822079G>T|g.chrX:18822080G>T	BC036026	CCDS14188.1, CCDS43920.1	Xp22	2013-01-10			ENSG00000086717	ENSG00000086717		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""EF-hand domain containing"""	9243	protein-coding gene	gene with protein product	"""protein phosphatase 7, catalytic subunit, alpha isozyme"""	300109		PPEF		9215685, 9326663	Standard	NM_152224		Approved	PPP7CA	uc004cyq.3	O14829	OTTHUMG00000021219	Exception_encountered	X.37:g.18822079_18822080delinsTT	ENSP00000354871:p.Gly379Phe					PPEF1_uc004cyp.2_Missense_Mutation_p.G351C|PPEF1_uc004cyr.2_Intron|PPEF1_uc004cys.2_Missense_Mutation_p.G379C|PPEF1_uc011mja.1_Missense_Mutation_p.G314C|PPEF1_uc011mjb.1_Missense_Mutation_p.G323C|PPEF1_uc004cyp.2_Missense_Mutation_p.G351V|PPEF1_uc004cyr.2_Intron|PPEF1_uc004cys.2_Missense_Mutation_p.G379V|PPEF1_uc011mja.1_Missense_Mutation_p.G314V|PPEF1_uc011mjb.1_Missense_Mutation_p.G323V	p.G379C|p.G379V	NM_006240	NP_006231	O14829	PPE1_HUMAN			14	1616|1617	+	Hepatocellular(33;0.183)		379			Catalytic.		A6NHP4|A8K348|O15253|Q9NU21|Q9UJH0	Missense_Mutation	SNP	ENST00000361511.4	37	c.1135G>T|c.1136G>T	CCDS14188.1																																																																																				PASS	0.421	PPEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055953.3	NM_006240		5|6	84|83	5	83	---	---	---	---
YY2	404281	broad.mit.edu	37	X	21875391	21875391	+	Silent	SNP	G	G	A			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chrX:21875391G>A	ENST00000429584.2	+	1	1287	c.789G>A	c.(787-789)aaG>aaA	p.K263K	MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000365779.2_Intron|MBTPS2_ENST00000379484.5_Intron	NM_206923.3	NP_996806.2	O15391	TYY2_HUMAN	YY2 transcription factor	263	Mediates transcriptional repression.				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.K263K(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						GCTGCGAAAAGATGTTCCGGG	0.488																																						uc011mjp.1																			1	Substitution - coding silent(1)		lung(1)	breast(1)|skin(1)	2						c.(787-789)AAG>AAA		YY2 transcription factor							106.0	110.0	109.0					X																	21875391		2203	4300	6503	SO:0001819	synonymous_variant	404281				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding	g.chrX:21875391G>A	AK091850	CCDS14202.1	Xp22.2-p22.1	2011-02-11			ENSG00000230797	ENSG00000230797		"""Zinc fingers, C2H2-type"""	31684	protein-coding gene	gene with protein product	"""transcription factor yin yang 2"""	300570				14702039	Standard	NM_206923		Approved	ZNF631	uc011mjp.2	O15391	OTTHUMG00000021236	ENST00000429584.2:c.789G>A	X.37:g.21875391G>A						MBTPS2_uc004dae.2_Intron|MBTPS2_uc010nfr.2_Intron|YY2_uc010nfq.2_Silent_p.K481K|MBTPS2_uc004dab.2_Intron	p.K263K	NM_206923	NP_996806	O15391	TYY2_HUMAN			1	789	+			263			Mediates transcriptional repression.|C2H2-type 1.		B2RP10|Q6Q1S4	Silent	SNP	ENST00000429584.2	37	c.789G>A	CCDS14202.1																																																																																				PASS	0.488	YY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056025.1	NM_206923		10	162	10	162	---	---	---	---
POLA1	5422	broad.mit.edu	37	X	24760118	24760118	+	Splice_Site	SNP	G	G	C			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chrX:24760118G>C	ENST00000379059.3	+	22	2343		c.e22-1		POLA1_ENST00000379068.3_Splice_Site|SCARNA23_ENST00000516060.1_RNA	NM_016937.3	NP_058633.2	P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit						cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via nonhomologous end joining (GO:0006303)|G1/S transition of mitotic cell cycle (GO:0000082)|lagging strand elongation (GO:0006273)|leading strand elongation (GO:0006272)|mitotic cell cycle (GO:0000278)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|translesion synthesis (GO:0019985)|viral process (GO:0016032)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleoside binding (GO:0001882)|nucleotide binding (GO:0000166)|protein kinase binding (GO:0019901)	p.?(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Nelarabine(DB01280)	CCATTTAATAGTCCAGGACGC	0.378																																						uc004dbl.2																			1	Unknown(1)		lung(1)	ovary(2)|skin(1)	3						c.e22-1		DNA-directed DNA polymerase alpha 1	Clofarabine(DB00631)|Fludarabine(DB01073)						73.0	70.0	71.0					X																	24760118		2203	4299	6502	SO:0001630	splice_region_variant	5422				cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding	g.chrX:24760118G>C		CCDS14214.1	Xp22.1-p21.3	2014-01-30	2008-08-07	2006-09-26	ENSG00000101868	ENSG00000101868	2.7.7.7	"""DNA polymerases"""	9173	protein-coding gene	gene with protein product		312040	"""polymerase (DNA directed), alpha"", ""polymerase (DNA directed), alpha 1"", ""N syndrome (mental retardation, malformations, chromosome breakage)"""	POLA, NSX		1689958	Standard	NM_016937		Approved	p180	uc004dbl.3	P09884	OTTHUMG00000021277	ENST00000379059.3:c.2329-1G>C	X.37:g.24760118G>C						SCARNA23_uc004dbo.1_5'Flank	p.S777_splice	NM_016937	NP_058633	P09884	DPOLA_HUMAN			22	2352	+								Q86UQ7	Splice_Site	SNP	ENST00000379059.3	37	c.2329_splice	CCDS14214.1	.	.	.	.	.	.	.	.	.	.	G	19.81	3.895703	0.72639	.	.	ENSG00000101868	ENST00000379068;ENST00000379059	.	.	.	5.33	5.33	0.75918	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1211	0.89572	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	POLA1	24670039	1.000000	0.71417	0.999000	0.59377	0.922000	0.55478	7.362000	0.79507	2.471000	0.83476	0.600000	0.82982	.		PASS	0.378	POLA1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056111.1	NM_016937	Intron	18	69	18	69	---	---	---	---
MAGEB6	158809	broad.mit.edu	37	X	26212947	26212947	+	Silent	SNP	T	T	A			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chrX:26212947T>A	ENST00000379034.1	+	2	1133	c.984T>A	c.(982-984)gcT>gcA	p.A328A		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	328	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.A328A(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						ATGGGGATGCTCGGAAGATCA	0.498																																						uc004dbr.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(982-984)GCT>GCA		melanoma antigen family B, 6							159.0	155.0	156.0					X																	26212947		2202	4297	6499	SO:0001819	synonymous_variant	158809							g.chrX:26212947T>A	AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"""cancer/testis antigen family 3, member 4"""	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.984T>A	X.37:g.26212947T>A						MAGEB6_uc010ngc.1_Silent_p.A108A	p.A328A	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN			2	1133	+			328			MAGE.		Q6GS19|Q9H219	Silent	SNP	ENST00000379034.1	37	c.984T>A	CCDS14217.1																																																																																				PASS	0.498	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	NM_173523		14	131	14	131	---	---	---	---
CXorf21	80231	broad.mit.edu	37	X	30578234	30578234	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chrX:30578234C>A	ENST00000378962.3	-	3	561	c.239G>T	c.(238-240)aGa>aTa	p.R80I		NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN	chromosome X open reading frame 21	80								p.R80I(1)		kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						CACTGTGACTCTCTGACTTCT	0.453																																						uc004dcg.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(238-240)AGA>ATA		hypothetical protein LOC80231							167.0	162.0	164.0					X																	30578234		2202	4300	6502	SO:0001583	missense	80231							g.chrX:30578234C>A	BC020611	CCDS14224.1	Xp21.3	2006-04-12			ENSG00000120280	ENSG00000120280			25667	protein-coding gene	gene with protein product						12477932	Standard	NM_025159		Approved	FLJ11577	uc004dcg.2	Q9HAI6	OTTHUMG00000021325	ENST00000378962.3:c.239G>T	X.37:g.30578234C>A	ENSP00000368245:p.Arg80Ile						p.R80I	NM_025159	NP_079435	Q9HAI6	CX021_HUMAN			3	515	-			80						Missense_Mutation	SNP	ENST00000378962.3	37	c.239G>T	CCDS14224.1	.	.	.	.	.	.	.	.	.	.	C	12.71	2.020837	0.35606	.	.	ENSG00000120280	ENST00000378962	.	.	.	5.25	4.31	0.51392	.	0.353762	0.27031	N	0.021263	T	0.26412	0.0645	L	0.36672	1.1	0.25449	N	0.988025	P	0.40794	0.729	B	0.39419	0.299	T	0.19451	-1.0305	9	0.52906	T	0.07	-4.1692	6.5489	0.22423	0.0:0.7845:0.0:0.2155	.	80	Q9HAI6	CX021_HUMAN	I	80	.	ENSP00000368245:R80I	R	-	2	0	CXorf21	30488155	0.495000	0.26051	0.246000	0.24233	0.995000	0.86356	0.889000	0.28282	2.426000	0.82243	0.544000	0.68410	AGA		PASS	0.453	CXorf21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056164.1	NM_025159		18	149	18	149	---	---	---	---
FAM47A	158724	broad.mit.edu	37	X	34149282	34149282	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chrX:34149282C>A	ENST00000346193.3	-	1	1165	c.1114G>T	c.(1114-1116)Ggg>Tgg	p.G372W		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	372								p.G372W(2)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						AGACTGGACCCCCGACGAGTC	0.632																																						uc004ddg.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|central_nervous_system(1)	5						c.(1114-1116)GGG>TGG		hypothetical protein LOC158724							35.0	36.0	36.0					X																	34149282		2199	4299	6498	SO:0001583	missense	158724							g.chrX:34149282C>A	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.1114G>T	X.37:g.34149282C>A	ENSP00000345029:p.Gly372Trp						p.G372W	NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN			1	1147	-			372					A8K8I9|Q8TAA0	Missense_Mutation	SNP	ENST00000346193.3	37	c.1114G>T	CCDS43926.1	.	.	.	.	.	.	.	.	.	.	c	6.063	0.380011	0.11466	.	.	ENSG00000185448	ENST00000346193	T	0.23147	1.92	0.226	-0.452	0.12205	.	.	.	.	.	T	0.16727	0.0402	L	0.34521	1.04	0.09310	N	1	P	0.49447	0.924	B	0.43360	0.417	T	0.10894	-1.0610	8	0.37606	T	0.19	.	.	.	.	.	372	Q5JRC9	FA47A_HUMAN	W	372	ENSP00000345029:G372W	ENSP00000345029:G372W	G	-	1	0	FAM47A	34059203	0.056000	0.20664	0.001000	0.08648	0.001000	0.01503	0.663000	0.25053	-0.901000	0.03891	-0.907000	0.02831	GGG		PASS	0.632	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		8	46	8	46	---	---	---	---
FAM47C	442444	broad.mit.edu	37	X	37026659	37026659	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chrX:37026659G>T	ENST00000358047.3	+	1	228	c.176G>T	c.(175-177)cGc>cTc	p.R59L		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	59								p.R59L(2)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GACGACTTCCGCTACGGCTGT	0.557																																						uc004ddl.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(175-177)CGC>CTC		hypothetical protein LOC442444							81.0	71.0	74.0					X																	37026659		2202	4300	6502	SO:0001583	missense	442444							g.chrX:37026659G>T	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.176G>T	X.37:g.37026659G>T	ENSP00000367913:p.Arg59Leu						p.R59L	NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN			1	190	+			59					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.176G>T	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	G	7.509	0.654189	0.14580	.	.	ENSG00000198173	ENST00000358047	T	0.20738	2.05	0.502	-1.0	0.10196	.	.	.	.	.	T	0.32823	0.0842	M	0.76838	2.35	0.09310	N	1	D	0.55800	0.973	P	0.56865	0.808	T	0.30851	-0.9964	8	0.87932	D	0	.	.	.	.	.	59	Q5HY64	FA47C_HUMAN	L	59	ENSP00000367913:R59L	ENSP00000367913:R59L	R	+	2	0	FAM47C	36936580	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.279000	0.08479	-1.720000	0.01380	-2.143000	0.00337	CGC		PASS	0.557	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		3	42	3	42	---	---	---	---
FAM47C	442444	broad.mit.edu	37	X	37029127	37029127	+	Missense_Mutation	SNP	T	T	G			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chrX:37029127T>G	ENST00000358047.3	+	1	2696	c.2644T>G	c.(2644-2646)Tat>Gat	p.Y882D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	882								p.Y882D(2)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CAGAGCAACCTATCAAGACCA	0.458																																						uc004ddl.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(2644-2646)TAT>GAT		hypothetical protein LOC442444							120.0	114.0	116.0					X																	37029127		2202	4300	6502	SO:0001583	missense	442444							g.chrX:37029127T>G	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.2644T>G	X.37:g.37029127T>G	ENSP00000367913:p.Tyr882Asp						p.Y882D	NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN			1	2658	+			882					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.2644T>G	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	T	1.727	-0.495237	0.04322	.	.	ENSG00000198173	ENST00000358047	T	0.66099	-0.19	0.829	0.829	0.18847	.	.	.	.	.	T	0.49047	0.1534	L	0.52573	1.65	0.09310	N	1	B	0.29432	0.244	B	0.22753	0.041	T	0.30090	-0.9990	8	0.26408	T	0.33	.	.	.	.	.	882	Q5HY64	FA47C_HUMAN	D	882	ENSP00000367913:Y882D	ENSP00000367913:Y882D	Y	+	1	0	FAM47C	36939048	0.002000	0.14202	0.002000	0.10522	0.006000	0.05464	-0.172000	0.09868	0.563000	0.29222	0.229000	0.17801	TAT		PASS	0.458	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		5	80	5	80	---	---	---	---
BCOR	54880	broad.mit.edu	37	X	39933450	39933450	+	Silent	SNP	G	G	A			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chrX:39933450G>A	ENST00000378444.4	-	4	1377	c.1149C>T	c.(1147-1149)ttC>ttT	p.F383F	BCOR_ENST00000378455.4_Silent_p.F383F|BCOR_ENST00000397354.3_Silent_p.F383F|BCOR_ENST00000342274.4_Silent_p.F383F	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	383					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.F383F(1)		breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TGGCCGCGGGGAACTCGCTGC	0.602			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																															uc004den.3				Rec	yes		X	Xp11.4	54880		BCL6 corepressor	yes							1	Substitution - coding silent(1)		lung(1)	ovary(2)|kidney(1)|central_nervous_system(1)	4						c.(1147-1149)TTC>TTT		BCL-6 interacting corepressor isoform c							39.0	33.0	35.0					X																	39933450		2202	4300	6502	SO:0001819	synonymous_variant	54880				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:39933450G>A	AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.1149C>T	X.37:g.39933450G>A						BCOR_uc004dep.3_Silent_p.F383F|BCOR_uc004deo.3_Silent_p.F383F|BCOR_uc004dem.3_Silent_p.F383F|BCOR_uc004deq.3_Silent_p.F383F	p.F383F	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN			4	1441	-			383					D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Silent	SNP	ENST00000378444.4	37	c.1149C>T	CCDS48093.1																																																																																				PASS	0.602	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		4	25	4	25	---	---	---	---
JADE3	9767	broad.mit.edu	37	X	46918459	46918459	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chrX:46918459C>A	ENST00000218343.4	+	11	2750	c.2452C>A	c.(2452-2454)Cac>Aac	p.H818N	PHF16_ENST00000397189.1_Missense_Mutation_p.H818N	NM_014735.3	NP_055550.1												p.H818N(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						TCCCCTTTCCCACAGTTCAAT	0.448																																						uc004dgx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2452-2454)CAC>AAC		PHD finger protein 16							35.0	30.0	32.0					X																	46918459		2193	4264	6457	SO:0001583	missense	9767				histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding	g.chrX:46918459C>A																												ENST00000218343.4:c.2452C>A	X.37:g.46918459C>A	ENSP00000218343:p.His818Asn					PHF16_uc004dgy.2_Missense_Mutation_p.H818N	p.H818N	NM_001077445	NP_001070913	Q92613	JADE3_HUMAN			11	2503	+			818						Missense_Mutation	SNP	ENST00000218343.4	37	c.2452C>A	CCDS14271.1	.	.	.	.	.	.	.	.	.	.	C	15.51	2.854672	0.51376	.	.	ENSG00000102221	ENST00000397189;ENST00000218343	T;T	0.52295	0.67;0.67	5.18	5.18	0.71444	.	0.819371	0.10597	N	0.656078	T	0.60894	0.2304	L	0.29908	0.895	0.38986	D	0.959059	D	0.63880	0.993	D	0.70227	0.968	T	0.62081	-0.6929	10	0.66056	D	0.02	.	17.8312	0.88683	0.0:1.0:0.0:0.0	.	818	Q92613	JADE3_HUMAN	N	818	ENSP00000380373:H818N;ENSP00000218343:H818N	ENSP00000218343:H818N	H	+	1	0	PHF16	46803403	0.998000	0.40836	0.837000	0.33122	0.994000	0.84299	2.802000	0.47916	2.399000	0.81585	0.594000	0.82650	CAC		PASS	0.448	PHF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056376.1			3	30	3	30	---	---	---	---
WAS	7454	broad.mit.edu	37	X	48542349	48542349	+	Missense_Mutation	SNP	T	T	A			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chrX:48542349T>A	ENST00000376701.4	+	1	182	c.107T>A	c.(106-108)tTt>tAt	p.F36Y	WAS_ENST00000483750.1_3'UTR	NM_000377.2	NP_000368.1	P42768	WASP_HUMAN	Wiskott-Aldrich syndrome	36					actin filament polymerization (GO:0030041)|actin filament-based movement (GO:0030048)|actin polymerization or depolymerization (GO:0008154)|blood coagulation (GO:0007596)|defense response (GO:0006952)|endosomal transport (GO:0016197)|epidermis development (GO:0008544)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|protein complex assembly (GO:0006461)|regulation of catalytic activity (GO:0050790)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|vesicle membrane (GO:0012506)	identical protein binding (GO:0042802)|phospholipase binding (GO:0043274)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|small GTPase regulator activity (GO:0005083)	p.F36Y(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(315;1.27e-10)				CAGCGACTCTTTGAGATGCTT	0.627			"""Mis, N, F, S"""			lymphoma																																uc004dkm.3				X-linked recessive		Wiskott-Aldrich syndrome	X	Xp11.23-p11.22	7454	Mis|N|F|S	Wiskott-Aldrich syndrome			L		lymphoma			1	Substitution - Missense(1)		lung(1)	ovary(1)	1	GRCh37	CD951883	WAS	D		c.(106-108)TTT>TAT		Wiskott-Aldrich syndrome protein							109.0	87.0	95.0					X																	48542349		2203	4300	6503	SO:0001583	missense	7454	Wiskott-Aldrich_syndrome			blood coagulation|defense response|epidermis development|immune response|T cell receptor signaling pathway	actin cytoskeleton|cytosol	identical protein binding|small GTPase regulator activity	g.chrX:48542349T>A	AF115548	CCDS14303.1	Xp11.4-p11.21	2014-09-17	2012-07-12		ENSG00000015285	ENSG00000015285			12731	protein-coding gene	gene with protein product	"""eczema-thrombocytopenia"""	300392	"""thrombocytopenia 1 (X-linked)"", ""Wiskott-Aldrich syndrome (eczema-thrombocytopenia)"""	IMD2, THC		7795648	Standard	NM_000377		Approved	WASP	uc004dkm.4	P42768	OTTHUMG00000034483	ENST00000376701.4:c.107T>A	X.37:g.48542349T>A	ENSP00000365891:p.Phe36Tyr						p.F36Y	NM_000377	NP_000368	P42768	WASP_HUMAN			1	164	+		all_lung(315;1.27e-10)	36					Q9BU11|Q9UNJ9	Missense_Mutation	SNP	ENST00000376701.4	37	c.107T>A	CCDS14303.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.966335	0.74131	.	.	ENSG00000015285	ENST00000450772;ENST00000376701	D;D	0.98807	-5.15;-5.15	4.51	4.51	0.55191	EVH1 (1);Pleckstrin homology-type (1);	0.294724	0.33235	N	0.005126	D	0.98529	0.9509	M	0.62723	1.935	0.29740	N	0.837193	D	0.61697	0.99	D	0.68943	0.961	D	0.96198	0.9143	10	0.72032	D	0.01	-7.6204	9.3759	0.38283	0.0:0.0:0.0:1.0	.	36	P42768	WASP_HUMAN	Y	36	ENSP00000410537:F36Y;ENSP00000365891:F36Y	ENSP00000365891:F36Y	F	+	2	0	WAS	48427293	1.000000	0.71417	0.864000	0.33941	0.744000	0.42396	4.898000	0.63238	1.471000	0.48121	0.231000	0.17811	TTT		PASS	0.627	WAS-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083379.1	NM_000377		6	59	6	59	---	---	---	---
PRICKLE3	4007	broad.mit.edu	37	X	49032071	49032071	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chrX:49032071C>A	ENST00000376317.3	-	9	1893	c.1799G>T	c.(1798-1800)cGc>cTc	p.R600L	PRICKLE3_ENST00000538114.1_Missense_Mutation_p.R424L|PRICKLE3_ENST00000536904.1_Missense_Mutation_p.R519L|PRICKLE3_ENST00000540849.1_Missense_Mutation_p.R532L	NM_006150.3	NP_006141.2	O43900	PRIC3_HUMAN	prickle homolog 3 (Drosophila)	600							zinc ion binding (GO:0008270)	p.R600L(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|skin(2)	22						CATCCCTGCGCGAGAGTCCCT	0.602																																						uc004dmy.1																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(1798-1800)CGC>CTC		LIM domain only 6							51.0	49.0	50.0					X																	49032071		2203	4300	6503	SO:0001583	missense	4007						protein binding|zinc ion binding	g.chrX:49032071C>A	BC016856	CCDS14320.1	Xp11.23	2008-02-05	2007-09-18	2007-09-18	ENSG00000012211	ENSG00000012211			6645	protein-coding gene	gene with protein product		300111	"""LIM domain only 6"""	LMO6		9344658	Standard	XM_005272605		Approved		uc004dmy.1	O43900	OTTHUMG00000024134	ENST00000376317.3:c.1799G>T	X.37:g.49032071C>A	ENSP00000365494:p.Arg600Leu					PRICKLE3_uc011mmv.1_Missense_Mutation_p.R532L|PRICKLE3_uc011mmw.1_Missense_Mutation_p.R519L|PRICKLE3_uc011mmx.1_Missense_Mutation_p.R562L	p.R600L	NM_006150	NP_006141	O43900	PRIC3_HUMAN			9	1825	-			600					B7Z8F2|O76007|Q53XR5	Missense_Mutation	SNP	ENST00000376317.3	37	c.1799G>T	CCDS14320.1	.	.	.	.	.	.	.	.	.	.	-	12.56	1.976079	0.34848	.	.	ENSG00000012211	ENST00000376317;ENST00000536904;ENST00000540849;ENST00000538114	T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.4	4.44	-0.763	0.11030	.	0.826858	0.10174	N	0.706741	T	0.46367	0.1389	N	0.14661	0.345	0.09310	N	1	B;B;B	0.23891	0.039;0.093;0.039	B;B;B	0.20767	0.019;0.031;0.019	T	0.36311	-0.9753	10	0.72032	D	0.01	0.0236	8.2887	0.31943	0.0:0.4446:0.0:0.5554	.	562;519;600	B7Z6S4;B7Z8F2;O43900	.;.;PRIC3_HUMAN	L	600;519;532;424	ENSP00000365494:R600L;ENSP00000441385:R519L;ENSP00000446051:R532L;ENSP00000441743:R424L	ENSP00000365494:R600L	R	-	2	0	PRICKLE3	48919015	0.056000	0.20664	0.000000	0.03702	0.135000	0.20990	0.190000	0.17057	-0.282000	0.09128	-0.433000	0.05886	CGC		PASS	0.602	PRICKLE3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060811.1	NM_006150		4	51	4	51	---	---	---	---
AKAP4	8852	broad.mit.edu	37	X	49957892	49957892	+	Missense_Mutation	SNP	G	G	T	rs146755588		TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chrX:49957892G>T	ENST00000376056.2	-	5	1595	c.1445C>A	c.(1444-1446)aCt>aAt	p.T482N	AKAP4_ENST00000376064.3_Missense_Mutation_p.T482N|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376058.2_Intron|AKAP4_ENST00000358526.2_Missense_Mutation_p.T491N					A kinase (PRKA) anchor protein 4									p.T491N(1)		NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					CTCAGCACTAGTCAGTGACTT	0.458																																						uc004dow.1																			1	Substitution - Missense(1)		lung(1)	kidney(3)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	8						c.(1471-1473)ACT>AAT		A-kinase anchor protein 4 isoform 1							178.0	159.0	165.0					X																	49957892		2203	4300	6503	SO:0001583	missense	8852				cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding	g.chrX:49957892G>T	AF072756	CCDS14329.1, CCDS14330.1	Xp11.2	2009-03-12			ENSG00000147081	ENSG00000147081		"""A-kinase anchor proteins"""	374	protein-coding gene	gene with protein product	"""A-kinase anchor protein 82 kDa"", ""testis-specific gene HI"", ""protein kinase A anchoring protein 4"", ""cancer/testis antigen 99"""	300185				9822690, 9514854	Standard	NM_003886		Approved	p82, hAKAP82, AKAP82, Fsc1, HI, CT99	uc004dow.1	Q5JQC9	OTTHUMG00000021517	ENST00000376056.2:c.1445C>A	X.37:g.49957892G>T	ENSP00000365224:p.Thr482Asn					AKAP4_uc004dov.1_Intron|AKAP4_uc010njp.1_Missense_Mutation_p.T313N|AKAP4_uc004dou.1_Missense_Mutation_p.T482N	p.T491N	NM_003886	NP_003877	Q5JQC9	AKAP4_HUMAN			5	1596	-	Ovarian(276;0.236)		491						Missense_Mutation	SNP	ENST00000376056.2	37	c.1472C>A	CCDS14330.1	.	.	.	.	.	.	.	.	.	.	G	11.98	1.801851	0.31869	.	.	ENSG00000147081	ENST00000376056;ENST00000358526;ENST00000376064	T;T;T	0.10005	2.92;2.92;2.92	4.82	4.82	0.62117	A-kinase anchor 110kDa, C-terminal (1);	0.000000	0.53938	D	0.000052	T	0.31451	0.0797	M	0.74258	2.255	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.02457	-1.1156	9	.	.	.	-15.9619	12.4573	0.55712	0.0:0.0:1.0:0.0	.	491	Q5JQC9	AKAP4_HUMAN	N	482;491;482	ENSP00000365224:T482N;ENSP00000351327:T491N;ENSP00000365232:T482N	.	T	-	2	0	AKAP4	49844632	1.000000	0.71417	0.979000	0.43373	0.112000	0.19704	2.174000	0.42482	1.990000	0.58119	0.458000	0.33432	ACT		PASS	0.458	AKAP4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056552.1	NM_003886		13	123	13	123	---	---	---	---
MAGEH1	28986	broad.mit.edu	37	X	55479403	55479403	+	Nonsense_Mutation	SNP	C	C	A			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chrX:55479403C>A	ENST00000342972.1	+	1	866	c.596C>A	c.(595-597)tCg>tAg	p.S199*	hsa-mir-4536-2_ENST00000583537.1_RNA	NM_014061.3	NP_054780.2	Q9H213	MAGH1_HUMAN	melanoma antigen family H, 1	199					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)		p.S199*(1)|p.S199W(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|skin(2)	15						GACTGGGATTCGGACGATGAT	0.493																																						uc004dum.2																			2	Substitution - Nonsense(1)|Substitution - Missense(1)		lung(2)	ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(595-597)TCG>TAG		melanoma antigen, family H, 1 protein							95.0	89.0	91.0					X																	55479403		2203	4300	6503	SO:0001587	stop_gained	28986				apoptosis			g.chrX:55479403C>A	AF320912	CCDS14369.1	Xp11.22	2008-02-05			ENSG00000187601	ENSG00000187601			24092	protein-coding gene	gene with protein product		300548				12414813, 9485030	Standard	NM_014061		Approved	APR1	uc004dum.3	Q9H213	OTTHUMG00000021655	ENST00000342972.1:c.596C>A	X.37:g.55479403C>A	ENSP00000343706:p.Ser199*						p.S199*	NM_014061	NP_054780	Q9H213	MAGH1_HUMAN			1	866	+			199					B2R8V9|Q5JRJ3|Q9Y5M2	Nonsense_Mutation	SNP	ENST00000342972.1	37	c.596C>A	CCDS14369.1	.	.	.	.	.	.	.	.	.	.	.	14.65	2.599402	0.46318	.	.	ENSG00000187601	ENST00000342972	.	.	.	3.52	0.802	0.18686	.	0.000000	0.29159	N	0.012965	.	.	.	.	.	.	0.34685	D	0.725113	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	2.6903	5.3551	0.16057	0.0:0.5977:0.0:0.4023	.	.	.	.	X	199	.	ENSP00000343706:S199X	S	+	2	0	MAGEH1	55496128	0.845000	0.29573	0.012000	0.15200	0.002000	0.02628	1.329000	0.33770	0.046000	0.15833	-0.202000	0.12741	TCG		PASS	0.493	MAGEH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056868.1	NM_014061		5	85	5	85	---	---	---	---
LAS1L	81887	broad.mit.edu	37	X	64738141	64738141	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chrX:64738141C>A	ENST00000374811.3	-	12	1693	c.1653G>T	c.(1651-1653)aaG>aaT	p.K551N	LAS1L_ENST00000374807.5_Missense_Mutation_p.K534N|LAS1L_ENST00000374804.5_Missense_Mutation_p.K492N|LAS1L_ENST00000312391.8_3'UTR	NM_031206.4	NP_112483.1	Q9Y4W2	LAS1L_HUMAN	LAS1-like (S. cerevisiae)	551					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.K551N(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						GTTGCTGGGCCTTTGCTTCAG	0.547																																						uc004dwa.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)	4						c.(1651-1653)AAG>AAT		LAS1-like							104.0	95.0	98.0					X																	64738141		2203	4300	6503	SO:0001583	missense	81887					MLL1 complex|nucleolus	protein binding	g.chrX:64738141C>A	BC014545	CCDS14381.1, CCDS55433.1, CCDS55434.1	Xq12	2008-02-05			ENSG00000001497	ENSG00000001497			25726	protein-coding gene	gene with protein product						12477932	Standard	NM_031206		Approved	FLJ12525	uc004dwa.2	Q9Y4W2	OTTHUMG00000021720	ENST00000374811.3:c.1653G>T	X.37:g.64738141C>A	ENSP00000363944:p.Lys551Asn					LAS1L_uc004dwc.1_Missense_Mutation_p.K534N|LAS1L_uc004dwd.1_Missense_Mutation_p.K492N|LAS1L_uc004dvy.1_Missense_Mutation_p.K64N|LAS1L_uc004dvz.1_Missense_Mutation_p.K64N	p.K551N	NM_031206	NP_112483	Q9Y4W2	LAS1L_HUMAN			12	1725	-			551					A9X410|Q5JXQ0|Q8TEN5|Q9H9V5	Missense_Mutation	SNP	ENST00000374811.3	37	c.1653G>T	CCDS14381.1	.	.	.	.	.	.	.	.	.	.	C	5.752	0.323131	0.10900	.	.	ENSG00000001497	ENST00000374807;ENST00000374811;ENST00000374804	.	.	.	4.56	-1.76	0.08006	.	0.583858	0.15154	N	0.277538	T	0.08358	0.0208	N	0.02011	-0.69	0.09310	N	1	B;B;B;B	0.10296	0.001;0.002;0.001;0.003	B;B;B;B	0.10450	0.002;0.003;0.002;0.005	T	0.19257	-1.0311	9	0.36615	T	0.2	.	0.8062	0.01084	0.1818:0.1953:0.1694:0.4535	.	492;534;551;64	Q9Y4W2-3;Q9Y4W2-2;Q9Y4W2;B3KNR6	.;.;LAS1L_HUMAN;.	N	534;551;492	.	ENSP00000363937:K492N	K	-	3	2	LAS1L	64654866	0.048000	0.20356	0.012000	0.15200	0.225000	0.24961	0.827000	0.27421	-0.087000	0.12528	0.468000	0.43344	AAG		PASS	0.547	LAS1L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056974.1	NM_031206		16	106	16	106	---	---	---	---
AR	367	broad.mit.edu	37	X	66765158	66765158	+	Missense_Mutation	SNP	T	T	A	rs78686797|rs3032358|rs4045402		TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chrX:66765158T>A	ENST00000374690.3	+	1	694	c.170T>A	c.(169-171)cTg>cAg	p.L57Q	AR_ENST00000396044.3_Missense_Mutation_p.L57Q|AR_ENST00000504326.1_Missense_Mutation_p.L57Q|AR_ENST00000513847.1_3'UTR	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	57	Modulating.|Poly-Leu.		L -> Q (in prostate cancer).		androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.L57Q(3)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	TTGCTGCTGCTgcagcagcag	0.667									Androgen Insensitivity Syndrome																													uc004dwu.1																			3	Substitution - Missense(3)		lung(1)|endometrium(1)|central_nervous_system(1)	ovary(3)|lung(2)|breast(2)|central_nervous_system(1)	8						c.(169-171)CTG>CAG		androgen receptor isoform 1	Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)						9.0	12.0	11.0					X																	66765158		2134	4208	6342	SO:0001583	missense	367	Androgen_Insensitivity_Syndrome	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chrX:66765158T>A	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"""Nuclear hormone receptors"""	644	protein-coding gene	gene with protein product	"""testicular feminization"", ""Kennedy disease"""	313700	"""dihydrotestosterone receptor"", ""spinal and bulbar muscular atrophy"""	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.170T>A	X.37:g.66765158T>A	ENSP00000363822:p.Leu57Gln					AR_uc011mpd.1_Missense_Mutation_p.L57Q|AR_uc011mpe.1_RNA|AR_uc011mpf.1_Missense_Mutation_p.L57Q	p.L57Q	NM_000044	NP_000035	P10275	ANDR_HUMAN			1	1285	+	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)	57		L -> Q (in prostate cancer).	Poly-Leu.|Modulating.		A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	SNP	ENST00000374690.3	37	c.170T>A	CCDS14387.1	.	.	.	.	.	.	.	.	.	.	N	0.020	-1.439011	0.01098	.	.	ENSG00000169083	ENST00000374690;ENST00000504326;ENST00000396044;ENST00000538891	D;D;D	0.83992	-1.79;-1.79;-1.79	.	.	.	.	0.157526	0.30101	N	0.010412	T	0.56441	0.1985	N	0.03608	-0.345	0.09310	N	0.999999	.	.	.	.	.	.	T	0.48927	-0.8991	6	0.20519	T	0.43	.	.	.	.	.	57;57;55	E7EVX6;D3YPQ2;P10275	.;.;ANDR_HUMAN	Q	57	ENSP00000363822:L57Q;ENSP00000421155:L57Q;ENSP00000379359:L57Q	ENSP00000363822:L57Q	L	+	2	0	AR	66681883	0.999000	0.42202	0.884000	0.34674	0.488000	0.33401	0.326000	0.19646	0.000000	0.14550	0.000000	0.15137	CTG		PASS	0.667	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044		3	26	3	26	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76937558	76937558	+	Missense_Mutation	SNP	C	C	T			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chrX:76937558C>T	ENST00000373344.5	-	9	3404	c.3190G>A	c.(3190-3192)Gct>Act	p.A1064T	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.A1026T	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1064					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.A1064T(2)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						GACTTCTCAGCATAATCAGAT	0.338			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															uc004ecp.3				Rec	yes		X	Xq21.1	546	Mis|F|N	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			Pancreatic neuroendocrine tumors		3	Substitution - Missense(2)|Unknown(1)		lung(2)|bone(1)	haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30						c.(3190-3192)GCT>ACT		transcriptional regulator ATRX isoform 1	Phosphatidylserine(DB00144)						118.0	132.0	127.0					X																	76937558		2203	4291	6494	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76937558C>T	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.3190G>A	X.37:g.76937558C>T	ENSP00000362441:p.Ala1064Thr					ATRX_uc004ecq.3_Missense_Mutation_p.A1026T|ATRX_uc004eco.3_Missense_Mutation_p.A849T|ATRX_uc004ecr.2_Missense_Mutation_p.A996T|ATRX_uc010nlx.1_Missense_Mutation_p.A1035T|ATRX_uc010nly.1_Missense_Mutation_p.A1009T	p.A1064T	NM_000489	NP_000480	P46100	ATRX_HUMAN			9	3422	-			1064					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.3190G>A	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	C	4.611	0.113610	0.08831	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	D;D	0.92199	-2.98;-2.99	5.56	1.21	0.21127	.	0.949211	0.08766	N	0.897019	T	0.79770	0.4503	N	0.12182	0.205	0.27072	N	0.963288	B;B;B;B	0.13594	0.008;0.006;0.005;0.0	B;B;B;B	0.09377	0.003;0.004;0.004;0.002	T	0.64976	-0.6280	10	0.09843	T	0.71	-0.4135	3.3884	0.07280	0.1201:0.5244:0.1159:0.2396	.	1064;996;1026;1064	A4LAA3;P46100-6;P46100-4;P46100	.;.;.;ATRX_HUMAN	T	1064;1026;991	ENSP00000362441:A1064T;ENSP00000378967:A1026T	ENSP00000362441:A1064T	A	-	1	0	ATRX	76824214	0.969000	0.33509	0.174000	0.22961	0.488000	0.33401	0.127000	0.15790	0.153000	0.19213	0.513000	0.50165	GCT		PASS	0.338	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		20	184	20	184	---	---	---	---
COL4A6	1288	broad.mit.edu	37	X	107454957	107454958	+	Missense_Mutation	DNP	TG	TG	CT	rs184622613		TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chrX:107454957_107454958TG>CT	ENST00000372216.4	-	7	557_558	c.457_458CA>AG	c.(457-459)CAg>AGg	p.Q153R	COL4A6_ENST00000545689.1_Missense_Mutation_p.Q152R|COL4A6_ENST00000334504.7_Missense_Mutation_p.Q152R|COL4A6_ENST00000394872.2_Missense_Mutation_p.Q151R|COL4A6_ENST00000538570.1_Missense_Mutation_p.Q152R	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	153	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)	p.Q152R(2)|p.Q152K(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TGATCCTTTCTGACCAGGAAGC	0.401									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)	uc004enw.3																			3	Substitution - Missense(3)		lung(3)	ovary(6)|urinary_tract(1)|large_intestine(1)	8						c.(457-459)CAG>CGG|c.(457-459)CAG>AAG		type IV alpha 6 collagen isoform A precursor																																				SO:0001583	missense	1288	Alport_syndrome_with_Diffuse_Leiomyomatosis	Familial Cancer Database		cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107454957T>C|g.chrX:107454958G>T	U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"""Collagens"""	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.457_458delinsCT	X.37:g.107454957_107454958delinsCT	ENSP00000361290:p.Gln153Arg					COL4A6_uc004env.3_Missense_Mutation_p.Q152R|COL4A6_uc011msn.1_Missense_Mutation_p.Q152R|COL4A6_uc010npk.2_Missense_Mutation_p.Q152R|COL4A6_uc004env.3_Missense_Mutation_p.Q152K|COL4A6_uc011msn.1_Missense_Mutation_p.Q152K|COL4A6_uc010npk.2_Missense_Mutation_p.Q152K	p.Q153R|p.Q153K	NM_001847	NP_001838	Q14031	CO4A6_HUMAN			7	561|560	-			153			Triple-helical region.		Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Missense_Mutation	SNP	ENST00000372216.4	37	c.458A>G|c.457C>A	CCDS14541.1																																																																																				PASS	0.401	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2			10	101	10	101	---	---	---	---
WDR44	54521	broad.mit.edu	37	X	117576644	117576644	+	Splice_Site	SNP	G	G	T			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chrX:117576644G>T	ENST00000254029.3	+	17	2779		c.e17+1		WDR44_ENST00000371825.3_Splice_Site|WDR44_ENST00000371822.5_Splice_Site	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44							endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)		p.?(2)		breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						CAAGTTTCAGGTAAATTGGCA	0.388																																						uc004eqn.2																			2	Unknown(2)		lung(2)	lung(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	5						c.e17+1		WD repeat domain 44 protein							77.0	66.0	70.0					X																	117576644		2203	4300	6503	SO:0001630	splice_region_variant	54521					cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm		g.chrX:117576644G>T	AK001978	CCDS14572.1, CCDS55482.1, CCDS55483.1	Xq24	2013-01-09			ENSG00000131725	ENSG00000131725		"""WD repeat domain containing"""	30512	protein-coding gene	gene with protein product						12477932	Standard	NM_019045		Approved	DKFZp686L20145, RPH11, RAB11BP	uc004eqn.3	Q5JSH3	OTTHUMG00000022254	ENST00000254029.3:c.2384+1G>T	X.37:g.117576644G>T						WDR44_uc004eqo.2_Splice_Site_p.S795_splice|WDR44_uc011mtr.1_Splice_Site_p.S706_splice|WDR44_uc010nqi.2_Splice_Site_p.S505_splice	p.S795_splice	NM_019045	NP_061918	Q5JSH3	WDR44_HUMAN			17	2809	+								B4DSE9|F8W913|Q0JS52|Q0JTF3|Q5JSH2|Q6ZSC1|Q7Z365|Q7Z3P6|Q8NAU8|Q8NHU5|Q9NUV4	Splice_Site	SNP	ENST00000254029.3	37	c.2384_splice	CCDS14572.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.506185	0.85282	.	.	ENSG00000131725	ENST00000371822;ENST00000254029;ENST00000371825;ENST00000371848;ENST00000318919	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7947	0.91990	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	WDR44	117460672	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	9.414000	0.97362	2.384000	0.81235	0.525000	0.51046	.		PASS	0.388	WDR44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058001.1	NM_019045	Intron	8	36	8	36	---	---	---	---
GLUD2	2747	broad.mit.edu	37	X	120182743	120182743	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chrX:120182743C>A	ENST00000328078.1	+	1	1282	c.1205C>A	c.(1204-1206)gCt>gAt	p.A402D		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	402					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.A402D(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						AAGATCATTGCTGAAGGTGCC	0.483																																						uc004eto.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(1204-1206)GCT>GAT		glutamate dehydrogenase 2 precursor	L-Glutamic Acid(DB00142)|NADH(DB00157)						201.0	182.0	189.0					X																	120182743		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:120182743C>A	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.1205C>A	X.37:g.120182743C>A	ENSP00000327589:p.Ala402Asp						p.A402D	NM_012084	NP_036216	P49448	DHE4_HUMAN			1	1282	+			402					B2R8G0|Q9UDQ4	Missense_Mutation	SNP	ENST00000328078.1	37	c.1205C>A	CCDS14603.1	.	.	.	.	.	.	.	.	.	.	C	14.47	2.546235	0.45383	.	.	ENSG00000182890	ENST00000328078	D	0.97186	-4.28	1.7	0.811	0.18739	Glutamate/phenylalanine/leucine/valine dehydrogenase, C-terminal (2);NAD(P)-binding domain (1);	0.050402	0.85682	N	0.000000	D	0.98732	0.9574	H	0.98936	4.375	0.80722	D	1	D	0.71674	0.998	D	0.70016	0.967	D	0.96799	0.9588	10	0.87932	D	0	.	6.1221	0.20159	0.0:0.815:0.0:0.185	.	402	P49448	DHE4_HUMAN	D	402	ENSP00000327589:A402D	ENSP00000327589:A402D	A	+	2	0	GLUD2	120010424	1.000000	0.71417	0.671000	0.29857	0.755000	0.42902	4.990000	0.63876	0.227000	0.20999	0.472000	0.43445	GCT		PASS	0.483	GLUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058133.1	NM_012084		14	158	14	158	---	---	---	---
THOC2	57187	broad.mit.edu	37	X	122831592	122831592	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chrX:122831592G>T	ENST00000245838.8	-	5	315	c.284C>A	c.(283-285)aCa>aAa	p.T95K	THOC2_ENST00000355725.4_Missense_Mutation_p.T95K|THOC2_ENST00000491737.1_5'Flank	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	95					mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)	p.T16K(1)|p.T95K(1)		breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						TAAACAATTTGTCTCAATGTC	0.274																																						uc004etu.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(283-285)ACA>AAA		THO complex 2							55.0	47.0	49.0					X																	122831592		1756	4003	5759	SO:0001583	missense	57187				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding	g.chrX:122831592G>T	AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"""THO complex subunits"""	19073	protein-coding gene	gene with protein product		300395	"""chromosome X open reading frame 3"""	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.284C>A	X.37:g.122831592G>T	ENSP00000245838:p.Thr95Lys					THOC2_uc011muh.1_Missense_Mutation_p.T16K|THOC2_uc011mui.1_5'UTR	p.T95K	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN			5	316	-			95					A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Missense_Mutation	SNP	ENST00000245838.8	37	c.284C>A	CCDS43988.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.893756	0.91889	.	.	ENSG00000125676	ENST00000245838;ENST00000355725;ENST00000408933	.	.	.	5.37	5.37	0.77165	.	0.000000	0.64402	D	0.000004	T	0.76969	0.4062	M	0.75615	2.305	0.80722	D	1	D;D	0.89917	1.0;0.985	D;P	0.78314	0.991;0.858	T	0.73142	-0.4076	9	0.09843	T	0.71	-10.1421	18.1675	0.89733	0.0:0.0:1.0:0.0	.	16;95	B4DKZ6;Q8NI27	.;THOC2_HUMAN	K	95;95;16	.	ENSP00000245838:T95K	T	-	2	0	THOC2	122659273	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.271000	0.95698	2.228000	0.72767	0.544000	0.68410	ACA		PASS	0.274	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3			3	8	3	8	---	---	---	---
TENM1	10178	broad.mit.edu	37	X	123514829	123514829	+	Missense_Mutation	SNP	C	C	G			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chrX:123514829C>G	ENST00000371130.3	-	31	7798	c.7735G>C	c.(7735-7737)Ggg>Cgg	p.G2579R	TENM1_ENST00000422452.2_Missense_Mutation_p.G2586R|STAG2_ENST00000469481.1_Intron	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	2579					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.G2581R(1)									TCCAGAGACCCAAGCTTAATG	0.498																																						uc004euj.2																			1	Substitution - Missense(1)		lung(1)	ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						c.(7735-7737)GGG>CGG		odz, odd Oz/ten-m homolog 1 isoform 3							99.0	75.0	83.0					X																	123514829		2203	4300	6503	SO:0001583	missense	10178				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	g.chrX:123514829C>G	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.7735G>C	X.37:g.123514829C>G	ENSP00000360171:p.Gly2579Arg					ODZ1_uc011muj.1_Missense_Mutation_p.G2585R|ODZ1_uc010nqy.2_Missense_Mutation_p.G2586R	p.G2579R	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN			31	7799	-			2579			Extracellular (Potential).		B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.7735G>C	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	C	16.90	3.249831	0.59212	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.85484	-1.99;-1.95	5.83	5.83	0.93111	.	0.051039	0.85682	D	0.000000	T	0.81889	0.4918	L	0.42744	1.35	0.80722	D	1	B;B;B	0.30664	0.289;0.034;0.187	B;B;B	0.25759	0.048;0.021;0.063	T	0.80553	-0.1331	10	0.66056	D	0.02	.	19.0991	0.93266	0.0:1.0:0.0:0.0	.	2585;2586;2579	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	R	2579;2586	ENSP00000360171:G2579R;ENSP00000403954:G2586R	ENSP00000360171:G2579R	G	-	1	0	ODZ1	123342510	1.000000	0.71417	0.996000	0.52242	0.978000	0.69477	6.042000	0.70996	2.460000	0.83146	0.600000	0.82982	GGG		PASS	0.498	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		6	70	6	70	---	---	---	---
TENM1	10178	broad.mit.edu	37	X	123540170	123540170	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chrX:123540170G>T	ENST00000371130.3	-	25	5194	c.5131C>A	c.(5131-5133)Caa>Aaa	p.Q1711K	TENM1_ENST00000422452.2_Missense_Mutation_p.Q1718K|STAG2_ENST00000469481.1_Intron	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1711					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.Q1713K(1)									ATCTTACCTTGTTTTAAAATA	0.408																																						uc004euj.2																			1	Substitution - Missense(1)		lung(1)	ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						c.(5131-5133)CAA>AAA		odz, odd Oz/ten-m homolog 1 isoform 3							155.0	142.0	146.0					X																	123540170		2203	4300	6503	SO:0001583	missense	10178				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	g.chrX:123540170G>T	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.5131C>A	X.37:g.123540170G>T	ENSP00000360171:p.Gln1711Lys					ODZ1_uc011muj.1_Missense_Mutation_p.Q1717K|ODZ1_uc010nqy.2_Missense_Mutation_p.Q1718K	p.Q1711K	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN			25	5195	-			1711			Extracellular (Potential).		B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.5131C>A	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	G	16.26	3.072792	0.55646	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.85773	-2.03;-1.99	5.58	5.58	0.84498	Six-bladed beta-propeller, TolB-like (1);	0.056261	0.64402	D	0.000001	D	0.85305	0.5666	M	0.81341	2.54	0.58432	D	0.999998	B;B;B	0.32717	0.084;0.181;0.381	B;B;B	0.20767	0.022;0.014;0.031	D	0.84974	0.0884	10	0.48119	T	0.1	.	18.6316	0.91361	0.0:0.0:1.0:0.0	.	1717;1718;1711	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	K	1711;1718	ENSP00000360171:Q1711K;ENSP00000403954:Q1718K	ENSP00000360171:Q1711K	Q	-	1	0	ODZ1	123367851	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	9.476000	0.97823	2.343000	0.79666	0.600000	0.82982	CAA		PASS	0.408	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		6	98	6	98	---	---	---	---
SMARCA1	6594	broad.mit.edu	37	X	128645952	128645952	+	Silent	SNP	C	C	A			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chrX:128645952C>A	ENST00000371122.4	-	6	768	c.639G>T	c.(637-639)ggG>ggT	p.G213G	SMARCA1_ENST00000478420.1_5'UTR|SMARCA1_ENST00000371121.3_Silent_p.G213G|SMARCA1_ENST00000371123.1_Silent_p.G213G	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	213	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|DNA strand renaturation (GO:0000733)|neuron differentiation (GO:0030182)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)	CERF complex (GO:0090537)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NURF complex (GO:0016589)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.G213G(1)		biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						GTAAAGTTTTCCCAAGGCCCT	0.353																																						uc004eun.3																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(637-639)GGG>GGT		SWI/SNF-related matrix-associated							148.0	150.0	149.0					X																	128645952		2203	4300	6503	SO:0001819	synonymous_variant	6594				ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding	g.chrX:128645952C>A	M88163	CCDS14612.1, CCDS76018.1, CCDS76019.1	Xq25	2008-02-05			ENSG00000102038	ENSG00000102038			11097	protein-coding gene	gene with protein product		300012		SNF2L1, SNF2L		1408766, 14609955	Standard	XM_005262461		Approved	SNF2LB, NURF140, ISWI, SWI	uc004eun.4	P28370	OTTHUMG00000022370	ENST00000371122.4:c.639G>T	X.37:g.128645952C>A						SMARCA1_uc004eup.3_Silent_p.G213G|SMARCA1_uc011muk.1_Silent_p.G213G|SMARCA1_uc011mul.1_Silent_p.G213G	p.G213G	NM_003069	NP_003060	P28370	SMCA1_HUMAN			6	752	-			213			Helicase ATP-binding.|ATP (Potential).		Q5JV41|Q5JV42	Silent	SNP	ENST00000371122.4	37	c.639G>T	CCDS14612.1																																																																																				PASS	0.353	SMARCA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058206.1	NM_003069		15	169	15	169	---	---	---	---
ZDHHC9	51114	broad.mit.edu	37	X	128940418	128940418	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chrX:128940418G>T	ENST00000357166.6	-	11	1414	c.1023C>A	c.(1021-1023)agC>agA	p.S341R	ZDHHC9_ENST00000371064.3_Missense_Mutation_p.S341R	NM_016032.3	NP_057116.2	Q9Y397	ZDHC9_HUMAN	zinc finger, DHHC-type containing 9	341					peptidyl-L-cysteine S-palmitoylation (GO:0018230)|protein palmitoylation (GO:0018345)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|palmitoyltransferase complex (GO:0002178)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|Ras palmitoyltransferase activity (GO:0043849)|zinc ion binding (GO:0008270)	p.S341R(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	19						CGGGAGTGCTGCTGTCCTCCG	0.502																																						uc004euv.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1021-1023)AGC>AGA		zinc finger, DHHC domain containing 9							90.0	81.0	84.0					X																	128940418		2203	4300	6503	SO:0001583	missense	51114					endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acyltransferase activity|zinc ion binding	g.chrX:128940418G>T	AF151847	CCDS35395.1	Xq26.1	2008-02-05			ENSG00000188706	ENSG00000188706		"""Zinc fingers, DHHC-type"""	18475	protein-coding gene	gene with protein product		300646	"""zinc finger, DHHC-type containing 10"", ""chromosome X open reading frame 11"""	ZDHHC10, CXorf11		10810093	Standard	NM_001008222		Approved	ZNF379, CGI-89, ZNF380	uc004euw.3	Q9Y397	OTTHUMG00000022375	ENST00000357166.6:c.1023C>A	X.37:g.128940418G>T	ENSP00000349689:p.Ser341Arg					ZDHHC9_uc004euw.2_Missense_Mutation_p.S341R	p.S341R	NM_001008222	NP_001008223	Q9Y397	ZDHC9_HUMAN			10	1392	-			341			Cytoplasmic (Potential).		B4F6G2|D3DTF9|Q59EK4|Q5JSW5|Q8WWS7|Q9BPY4|Q9NSP0|Q9NVL0|Q9NVR6	Missense_Mutation	SNP	ENST00000357166.6	37	c.1023C>A	CCDS35395.1	.	.	.	.	.	.	.	.	.	.	G	11.40	1.627591	0.28978	.	.	ENSG00000188706	ENST00000357166;ENST00000371064	T;T	0.38401	1.14;1.14	5.43	4.57	0.56435	.	1.092010	0.06931	N	0.811048	T	0.23249	0.0562	N	0.14661	0.345	0.24134	N	0.995754	B	0.11235	0.004	B	0.13407	0.009	T	0.28586	-1.0039	10	0.14656	T	0.56	-6.9487	9.1506	0.36959	0.103:0.0:0.897:0.0	.	341	Q9Y397	ZDHC9_HUMAN	R	341	ENSP00000349689:S341R;ENSP00000360103:S341R	ENSP00000349689:S341R	S	-	3	2	ZDHHC9	128768099	1.000000	0.71417	0.994000	0.49952	0.798000	0.45092	0.910000	0.28571	1.057000	0.40506	0.600000	0.82982	AGC		PASS	0.502	ZDHHC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058213.1	NM_016032		16	83	16	83	---	---	---	---
IGSF1	3547	broad.mit.edu	37	X	130409717	130409717	+	Missense_Mutation	SNP	C	C	G			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chrX:130409717C>G	ENST00000361420.3	-	16	2998	c.2919G>C	c.(2917-2919)ttG>ttC	p.L973F	IGSF1_ENST00000370910.1_Missense_Mutation_p.L964F|IGSF1_ENST00000467244.1_5'Flank|IGSF1_ENST00000370903.3_Missense_Mutation_p.L978F|IGSF1_ENST00000370904.1_Missense_Mutation_p.L964F			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	973	Ig-like C2-type 10.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)	p.L973F(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GCTCAGCAAACAACCATGGCT	0.458																																						uc004ewd.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(1)|central_nervous_system(1)	5						c.(2917-2919)TTG>TTC		immunoglobulin superfamily, member 1 isoform 1							112.0	101.0	105.0					X																	130409717		2203	4300	6503	SO:0001583	missense	3547				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	g.chrX:130409717C>G	AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.2919G>C	X.37:g.130409717C>G	ENSP00000355010:p.Leu973Phe					IGSF1_uc004ewe.3_Missense_Mutation_p.L967F|IGSF1_uc004ewf.2_Missense_Mutation_p.L953F	p.L973F	NM_001555	NP_001546	Q8N6C5	IGSF1_HUMAN			16	3157	-			973			Extracellular (Potential).|Ig-like C2-type 10.		B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	ENST00000361420.3	37	c.2919G>C	CCDS14629.1	.	.	.	.	.	.	.	.	.	.	C	11.54	1.669847	0.29693	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.01265	5.08;5.08;5.08;5.08	5.19	-1.99	0.07457	Immunoglobulin-like fold (1);	2.084200	0.01941	N	0.041875	T	0.08313	0.0207	M	0.86651	2.83	0.22199	N	0.999293	P;D;D	0.76494	0.488;0.999;0.999	P;D;D	0.85130	0.574;0.997;0.996	T	0.32428	-0.9907	10	0.87932	D	0	.	2.1815	0.03876	0.1474:0.2148:0.4289:0.2089	.	964;417;973	Q8N6C5-2;C9JP68;Q8N6C5	.;.;IGSF1_HUMAN	F	964;973;964;978	ENSP00000359947:L964F;ENSP00000355010:L973F;ENSP00000359941:L964F;ENSP00000359940:L978F	ENSP00000355010:L973F	L	-	3	2	IGSF1	130237398	0.045000	0.20229	0.199000	0.23439	0.554000	0.35429	-0.772000	0.04694	-0.309000	0.08779	-0.346000	0.07831	TTG		PASS	0.458	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1			5	102	5	102	---	---	---	---
ATP11C	286410	broad.mit.edu	37	X	138886687	138886688	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chrX:138886687_138886688GG>TT	ENST00000327569.3	-	6	604_605	c.506_507CC>AA	c.(505-507)aCC>aAA	p.T169K	ATP11C_ENST00000359686.2_Missense_Mutation_p.T169K|ATP11C_ENST00000370543.1_Missense_Mutation_p.T169K|ATP11C_ENST00000370557.1_Missense_Mutation_p.T166K|ATP11C_ENST00000361648.2_Missense_Mutation_p.T169K	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	169					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|positive regulation of B cell differentiation (GO:0045579)|pre-B cell differentiation (GO:0002329)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|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.T169K(2)|p.T169N(2)|p.T169T(2)		breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					TTCCATCAGTGGTGCAAGATGA	0.381																																						uc004faz.2																			6	Substitution - Missense(4)|Substitution - coding silent(2)		lung(6)	ovary(5)|large_intestine(3)	8						c.(505-507)ACC>ACA|c.(505-507)ACC>AAC		ATPase, class VI, type 11C isoform a																																				SO:0001583	missense	286410				ATP biosynthetic process	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.chrX:138886687G>T|g.chrX:138886688G>T	AJ580094	CCDS14668.1, CCDS35410.1	Xq27.1	2011-06-09	2007-09-19		ENSG00000101974	ENSG00000101974		"""ATPases / P-type"""	13554	protein-coding gene	gene with protein product		300516	"""ATPase, Class VI, type 11C"""			11015572	Standard	NM_173694		Approved	ATPIG, ATPIQ	uc004faz.3	Q8NB49	OTTHUMG00000022538	ENST00000327569.3:c.506_507delinsTT	X.37:g.138886687_138886688delinsTT	ENSP00000332756:p.Thr169Lys					ATP11C_uc004fba.2_Silent_p.T169T|ATP11C_uc004fba.2_Missense_Mutation_p.T169N	p.T169T|p.T169N	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN			6	606|605	-	Acute lymphoblastic leukemia(192;0.000127)		169			Cytoplasmic (Potential).		Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Silent|Missense_Mutation	SNP	ENST00000327569.3	37	c.507C>A|c.506C>A	CCDS14668.1																																																																																				PASS	0.381	ATP11C-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354945.1	NM_173694		8	179|176	8	176	---	---	---	---
MAGEC3	139081	broad.mit.edu	37	X	140985527	140985527	+	Missense_Mutation	SNP	G	G	A			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chrX:140985527G>A	ENST00000298296.1	+	8	1841	c.1841G>A	c.(1840-1842)aGa>aAa	p.R614K	MAGEC3_ENST00000536088.1_3'UTR|MAGEC3_ENST00000544766.1_3'UTR|MAGEC3_ENST00000443323.2_3'UTR|MAGEC3_ENST00000409007.1_3'UTR	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	614	MAGE 2. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.R614K(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)					ATGGAAGACAGAGCCCAGGCC	0.478																																						uc011mwp.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|central_nervous_system(1)	3						c.(1840-1842)AGA>AAA		melanoma antigen family C, 3 isoform 1							91.0	79.0	83.0					X																	140985527		2203	4300	6503	SO:0001583	missense	139081							g.chrX:140985527G>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.1841G>A	X.37:g.140985527G>A	ENSP00000298296:p.Arg614Lys					MAGEC3_uc004fbs.2_3'UTR|MAGEC3_uc010nsj.2_3'UTR	p.R614K	NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN			8	1841	+	Acute lymphoblastic leukemia(192;6.56e-05)		614			MAGE 2.		Q3SYA7|Q5JZ43|Q9BZ80	Missense_Mutation	SNP	ENST00000298296.1	37	c.1841G>A	CCDS14676.1	.	.	.	.	.	.	.	.	.	.	g	8.675	0.903681	0.17760	.	.	ENSG00000165509	ENST00000298296	T	0.05319	3.46	1.25	0.302	0.15786	.	.	.	.	.	T	0.07818	0.0196	M	0.67625	2.065	0.09310	N	1	B	0.22909	0.077	B	0.24848	0.056	T	0.35301	-0.9794	9	0.62326	D	0.03	.	3.3878	0.07278	0.3037:0.0:0.6963:0.0	.	614	Q8TD91	MAGC3_HUMAN	K	614	ENSP00000298296:R614K	ENSP00000298296:R614K	R	+	2	0	MAGEC3	140813193	0.167000	0.22975	0.037000	0.18230	0.187000	0.23431	-0.071000	0.11505	0.024000	0.15214	0.284000	0.19432	AGA		PASS	0.478	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058606.1	NM_138702		3	76	3	76	---	---	---	---
MAGEC1	9947	broad.mit.edu	37	X	140995782	140995782	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chrX:140995782G>T	ENST00000285879.4	+	4	2878	c.2592G>T	c.(2590-2592)ttG>ttT	p.L864F	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	864								p.L864F(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CCACTTCATTGAGCCCATTCA	0.507										HNSCC(15;0.026)																												uc004fbt.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(2590-2592)TTG>TTT		melanoma antigen family C, 1							125.0	130.0	128.0					X																	140995782		2203	4300	6503	SO:0001583	missense	9947						protein binding	g.chrX:140995782G>T	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.2592G>T	X.37:g.140995782G>T	ENSP00000285879:p.Leu864Phe	HNSCC(15;0.026)				MAGEC1_uc010nsl.1_Intron	p.L864F	NM_005462	NP_005453	O60732	MAGC1_HUMAN			4	2878	+	Acute lymphoblastic leukemia(192;6.56e-05)		864					A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	c.2592G>T	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	g	10.82	1.457767	0.26161	.	.	ENSG00000155495	ENST00000285879	T	0.02280	4.36	0.724	0.724	0.18236	.	.	.	.	.	T	0.01287	0.0042	N	0.14661	0.345	0.19300	N	0.999976	P	0.36647	0.563	B	0.25987	0.065	T	0.50849	-0.8779	8	0.38643	T	0.18	.	.	.	.	.	864	O60732	MAGC1_HUMAN	F	864	ENSP00000285879:L864F	ENSP00000285879:L864F	L	+	3	2	MAGEC1	140823448	0.001000	0.12720	0.001000	0.08648	0.006000	0.05464	0.176000	0.16782	0.645000	0.30675	0.279000	0.19357	TTG		PASS	0.507	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		14	178	14	178	---	---	---	---
MAGEA6	4105	broad.mit.edu	37	X	151870130	151870130	+	Missense_Mutation	SNP	G	G	A			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chrX:151870130G>A	ENST00000329342.5	+	3	1045	c.820G>A	c.(820-822)Ggt>Agt	p.G274S		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	274	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.G274S(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)					GTTCCTGTGGGGTCCAAGGGC	0.532																																						uc004ffq.1																			1	Substitution - Missense(1)		lung(1)		0						c.(820-822)GGT>AGT		melanoma antigen family A, 6							149.0	144.0	146.0					X																	151870130		2202	4300	6502	SO:0001583	missense	4105						protein binding	g.chrX:151870130G>A		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.820G>A	X.37:g.151870130G>A	ENSP00000329199:p.Gly274Ser					MAGEA6_uc004ffr.1_Missense_Mutation_p.G274S|MAGEA2_uc010nto.2_Intron	p.G274S	NM_005363	NP_005354	P43360	MAGA6_HUMAN			3	1014	+	Acute lymphoblastic leukemia(192;6.56e-05)		274			MAGE.		A8IF93|Q6NW44	Missense_Mutation	SNP	ENST00000329342.5	37	c.820G>A	CCDS14708.1	.	.	.	.	.	.	.	.	.	.	g	13.75	2.331515	0.41297	.	.	ENSG00000197172	ENST00000329342	T	0.16743	2.32	0.879	0.879	0.19155	.	.	.	.	.	T	0.49423	0.1556	H	0.96748	3.875	0.09310	N	1	D	0.89917	1.0	D	0.83275	0.996	T	0.28776	-1.0033	9	0.87932	D	0	.	4.8218	0.13394	0.0:0.0:1.0:0.0	.	274	P43360	MAGA6_HUMAN	S	274	ENSP00000329199:G274S	ENSP00000329199:G274S	G	+	1	0	MAGEA6	151620786	0.996000	0.38824	0.248000	0.24265	0.125000	0.20455	1.881000	0.39638	0.718000	0.32166	0.181000	0.17075	GGT		PASS	0.532	MAGEA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058747.2	NM_005363		9	130	9	130	---	---	---	---
FLNA	2316	broad.mit.edu	37	X	153580937	153580937	+	Silent	SNP	G	G	T			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chrX:153580937G>T	ENST00000369850.3	-	40	6722	c.6486C>A	c.(6484-6486)ctC>ctA	p.L2162L	FLNA_ENST00000498491.1_5'Flank|FLNA_ENST00000344736.4_Silent_p.L2122L|FLNA_ENST00000360319.4_Silent_p.L2154L|FLNA_ENST00000369856.3_Silent_p.L295L|FLNA_ENST00000422373.1_Silent_p.L2154L	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	2162					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)	p.L2162L(1)		breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TTTTCAGGCTGAGGTCACAAT	0.637																																						uc004fkk.2																			1	Substitution - coding silent(1)		lung(1)	breast(6)	6						c.(6484-6486)CTC>CTA		filamin A, alpha isoform 2							46.0	47.0	47.0					X																	153580937		1926	4119	6045	SO:0001819	synonymous_variant	2316				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153580937G>T	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.6486C>A	X.37:g.153580937G>T						FLNA_uc004fki.2_Silent_p.L205L|FLNA_uc011mzn.1_Silent_p.L295L|FLNA_uc010nuu.1_Silent_p.L2154L	p.L2162L	NM_001110556	NP_001104026	P21333	FLNA_HUMAN			40	6735	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		2162			Filamin 20.		E9KL45|Q5HY53|Q5HY55|Q8NF52	Silent	SNP	ENST00000369850.3	37	c.6486C>A	CCDS48194.1																																																																																				PASS	0.637	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			5	68	5	68	---	---	---	---
PLXNA3	55558	broad.mit.edu	37	X	153698898	153698898	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chrX:153698898G>T	ENST00000369682.3	+	30	5275	c.5100G>T	c.(5098-5100)caG>caT	p.Q1700H	PLXNA3_ENST00000493546.1_3'UTR	NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	1700					axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)	p.Q1700H(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGGATGAGCAGGCGGACCAGC	0.622																																						uc004flm.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(5098-5100)CAG>CAT		plexin A3 precursor							93.0	84.0	87.0					X																	153698898		2203	4300	6503	SO:0001583	missense	55558				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	g.chrX:153698898G>T	X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"""Plexins"""	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.5100G>T	X.37:g.153698898G>T	ENSP00000358696:p.Gln1700His						p.Q1700H	NM_017514	NP_059984	P51805	PLXA3_HUMAN			30	5273	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		1700			Cytoplasmic (Potential).		Q5HY36	Missense_Mutation	SNP	ENST00000369682.3	37	c.5100G>T	CCDS14752.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.936887	0.73557	.	.	ENSG00000130827	ENST00000369682	T	0.13538	2.58	5.21	3.44	0.39384	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.42471	0.1204	M	0.90870	3.155	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	T	0.42172	-0.9467	10	0.87932	D	0	.	10.1204	0.42616	0.1599:0.0:0.8401:0.0	.	1700	P51805	PLXA3_HUMAN	H	1700	ENSP00000358696:Q1700H	ENSP00000358696:Q1700H	Q	+	3	2	PLXNA3	153352092	1.000000	0.71417	0.999000	0.59377	0.810000	0.45777	3.256000	0.51492	0.419000	0.25927	0.529000	0.55759	CAG		PASS	0.622	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514		10	97	10	97	---	---	---	---
IL9R	3581	broad.mit.edu	37	X	155235072	155235072	+	Nonsense_Mutation	SNP	G	G	T			TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chrX:155235072G>T	ENST00000244174.5	+	6	888	c.709G>T	c.(709-711)Gag>Tag	p.E237*	IL9R_ENST00000424344.3_Nonsense_Mutation_p.E216*|IL9R_ENST00000540897.1_Nonsense_Mutation_p.E262*|IL9R_ENST00000369423.2_Nonsense_Mutation_p.E272*	NM_002186.2	NP_002177.2	Q01113	IL9R_HUMAN	interleukin 9 receptor	237	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell proliferation (GO:0008283)|positive regulation of cell growth (GO:0030307)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	interleukin-9 receptor activity (GO:0004919)	p.E237*(1)		NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TGATGTGGTAGAGGAGGAGCG	0.582																																						uc004fnv.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(709-711)GAG>TAG		interleukin 9 receptor precursor							152.0	135.0	141.0					X																	155235072		2203	4296	6499	SO:0001587	stop_gained	3581				cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity	g.chrX:155235072G>T	M84747	CCDS14771.4, CCDS59180.1	Xq28 and Yq12	2008-02-05			ENSG00000124334	ENSG00000124334		"""Pseudoautosomal regions / PAR2"", ""Interleukins and interleukin receptors"", ""CD molecules"""	6030	protein-coding gene	gene with protein product		300007				1376929, 8666384	Standard	NM_002186		Approved	CD129	uc004fnv.1	Q01113	OTTHUMG00000022720	ENST00000244174.5:c.709G>T	X.37:g.155235072G>T	ENSP00000244174:p.Glu237*					IL9R_uc010nvn.2_Nonsense_Mutation_p.E216*|IL9R_uc004fnu.1_Nonsense_Mutation_p.E272*	p.E237*	NM_002186	NP_002177	Q01113	IL9R_HUMAN			6	888	+	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		237			Extracellular (Potential).|Fibronectin type-III.		B9ZVT0|Q14634|Q8WWU1|Q96TF0	Nonsense_Mutation	SNP	ENST00000244174.5	37	c.709G>T	CCDS14771.4	.	.	.	.	.	.	.	.	.	.	.	14.29	2.491594	0.44249	.	.	ENSG00000124334	ENST00000244174;ENST00000424344;ENST00000455739;ENST00000369423;ENST00000540897	.	.	.	1.29	0.317	0.15861	.	0.716531	0.12318	N	0.479580	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-22.8304	4.8864	0.13704	0.0:0.388:0.612:0.0	.	.	.	.	X	237;216;216;272;262	.	ENSP00000244174:E237X	E	+	1	0	IL9R	154888266	0.197000	0.23362	0.026000	0.17262	0.145000	0.21501	1.059000	0.30517	0.037000	0.15575	0.287000	0.19450	GAG		PASS	0.582	IL9R-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058981.1	NM_002186		6	35	6	35	---	---	---	---
PRR21	643905	broad.mit.edu	37	2	240982244	240982257	+	Frame_Shift_Del	DEL	TGGATGAAGGGCCA	TGGATGAAGGGCCA	-	rs143228404|rs138484612|rs62184587|rs75044548|rs140532642	byFrequency	TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr2:240982244_240982257delTGGATGAAGGGCCA	ENST00000408934.1	-	1	142_155	c.143_156delTGGCCCTTCATCCA	c.(142-156)atggcccttcatccafs	p.MALHP48fs		NM_001080835.1	NP_001074304.1	Q8WXC7	PRR21_HUMAN	proline rich 21	48	Pro-rich.							p.H51H(2)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(5)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	29						TGAAGAGCCGTGGATGAAGGGCCATGGGTGAAGA	0.575																																						uc010zod.1																			2	Substitution - coding silent(2)		ovary(2)	ovary(1)|skin(1)	2						c.(142-156)ATGGCCCTTCATCCAfs		proline rich 21																																				SO:0001589	frameshift_variant	643905							g.chr2:240982244_240982257delTGGATGAAGGGCCA	AF453950	CCDS33417.1	2q37.3	2009-04-20			ENSG00000221961	ENSG00000221961			33866	protein-coding gene	gene with protein product							Standard	NM_001080835		Approved		uc010zod.2	Q8WXC7	OTTHUMG00000159174	ENST00000408934.1:c.143_156delTGGCCCTTCATCCA	2.37:g.240982244_240982257delTGGATGAAGGGCCA	ENSP00000386166:p.Met48fs						p.M48fs	NM_001080835	NP_001074304	Q8WXC7	PRR21_HUMAN			1	143_156	-			48_52			Pro-rich.			Frame_Shift_Del	DEL	ENST00000408934.1	37	c.143_156delTGGCCCTTCATCCA	CCDS33417.1																																																																																					0.575	PRR21-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001080835		9	7	9	7	---	---	---	---
HNRNPKP3	399881	broad.mit.edu	37	11	43283606	43283606	+	RNA	DEL	A	A	-	rs377012965		TCGA-21-5784-01A-01D-1632-08	TCGA-21-5784-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f79285af-c364-4ec3-97d3-70a7d9b5800b	0f97a5be-e137-4732-8874-6b6d7443f271	g.chr11:43283606delA	ENST00000511537.1	-	0	1329					NR_033868.1				heterogeneous nuclear ribonucleoprotein K pseudogene 3																		AAGCAAATGTAAAAAAAAAAA	0.388																																						uc001mxe.1																			0													Homo sapiens cDNA FLJ44864 fis, clone BRALZ2013621, moderately similar to Heterogeneous nuclear ribonucleoprotein K.																																						0							g.chr11:43283606delA			11p12	2011-07-05				ENSG00000251557			42376	pseudogene	pseudogene							Standard	NR_033868		Approved		uc001mxe.2				11.37:g.43283606delA														2		-									RNA	DEL	ENST00000511537.1	37	c.1330delT																																																																																						0.388	HNRNPKP3-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000390385.1	NR_033868		6	3	6	3	---	---	---	---
